name term_id term_name term_namespace term_distance HP:0000118 HP:0000118 Phenotypic abnormality Phenotypic_abnormality 0 HP:0000119 HP:0000119 Abnormality of the genitourinary system Phenotypic_abnormality 1 HP:0000152 HP:0000152 Abnormality of head and neck Phenotypic_abnormality 1 HP:0000478 HP:0000478 Abnormality of the eye Phenotypic_abnormality 1 HP:0000598 HP:0000598 Abnormality of the ear Phenotypic_abnormality 1 HP:0000707 HP:0000707 Abnormality of the nervous system Phenotypic_abnormality 1 HP:0000769 HP:0000769 Abnormality of the breast Phenotypic_abnormality 1 HP:0000818 HP:0000818 Abnormality of the endocrine system Phenotypic_abnormality 1 HP:0000924 HP:0000924 Abnormality of the skeletal system Phenotypic_abnormality 1 HP:0001197 HP:0001197 Abnormality of prenatal development or birth Phenotypic_abnormality 1 HP:0001438 HP:0001438 Abnormality of the abdomen Phenotypic_abnormality 1 HP:0001507 HP:0001507 Growth abnormality Phenotypic_abnormality 1 HP:0001574 HP:0001574 Abnormality of the integument Phenotypic_abnormality 1 HP:0001608 HP:0001608 Abnormality of the voice Phenotypic_abnormality 1 HP:0001626 HP:0001626 Abnormality of the cardiovascular system Phenotypic_abnormality 1 HP:0001871 HP:0001871 Abnormality of blood and blood-forming tissues Phenotypic_abnormality 1 HP:0001939 HP:0001939 Abnormality of metabolism/homeostasis Phenotypic_abnormality 1 HP:0002086 HP:0002086 Abnormality of the respiratory system Phenotypic_abnormality 1 HP:0002664 HP:0002664 Neoplasm Phenotypic_abnormality 1 HP:0002715 HP:0002715 Abnormality of the immune system Phenotypic_abnormality 1 HP:0003011 HP:0003011 Abnormality of the musculature Phenotypic_abnormality 1 HP:0003549 HP:0003549 Abnormality of connective tissue Phenotypic_abnormality 1 HP:0000002 HP:0000002 Abnormality of body height Phenotypic_abnormality 2 HP:0000078 HP:0000078 Abnormality of the genital system Phenotypic_abnormality 2 HP:0000079 HP:0000079 Abnormality of the urinary system Phenotypic_abnormality 2 HP:0000234 HP:0000234 Abnormality of the head Phenotypic_abnormality 2 HP:0000301 HP:0000301 Abnormality of facial musculature Phenotypic_abnormality 2 HP:0000356 HP:0000356 Abnormality of the outer ear Phenotypic_abnormality 2 HP:0000359 HP:0000359 Abnormality of the inner ear Phenotypic_abnormality 2 HP:0000364 HP:0000364 Hearing abnormality Phenotypic_abnormality 2 HP:0000370 HP:0000370 Abnormality of the middle ear Phenotypic_abnormality 2 HP:0000464 HP:0000464 Abnormality of the neck Phenotypic_abnormality 2 HP:0000771 HP:0000771 Gynecomastia Phenotypic_abnormality 2 HP:0000775 HP:0000775 Abnormality of the diaphragm Phenotypic_abnormality 2 HP:0000816 HP:0000816 Abnormality of Krebs cycle metabolism Phenotypic_abnormality 2 HP:0000819 HP:0000819 Diabetes mellitus Phenotypic_abnormality 2 HP:0000820 HP:0000820 Abnormality of the thyroid gland Phenotypic_abnormality 2 HP:0000828 HP:0000828 Abnormality of the parathyroid gland Phenotypic_abnormality 2 HP:0000834 HP:0000834 Abnormality of the adrenal glands Phenotypic_abnormality 2 HP:0000847 HP:0000847 Abnormality of renin-angiotensin system Phenotypic_abnormality 2 HP:0000864 HP:0000864 Abnormality of the hypothalamus-pituitary axis Phenotypic_abnormality 2 HP:0000873 HP:0000873 Diabetes insipidus Phenotypic_abnormality 2 HP:0000951 HP:0000951 Abnormality of the skin Phenotypic_abnormality 2 HP:0001194 HP:0001194 Abnormalities of placenta and umbilical cord Phenotypic_abnormality 2 HP:0001371 HP:0001371 Flexion contracture Phenotypic_abnormality 2 HP:0001469 HP:0001469 Abnormality of the musculature of the pelvis Phenotypic_abnormality 2 HP:0001510 HP:0001510 Growth delay Phenotypic_abnormality 2 HP:0001548 HP:0001548 Overgrowth Phenotypic_abnormality 2 HP:0001557 HP:0001557 Prenatal movement abnormality Phenotypic_abnormality 2 HP:0001560 HP:0001560 Abnormality of the amniotic fluid Phenotypic_abnormality 2 HP:0001609 HP:0001609 Hoarse voice Phenotypic_abnormality 2 HP:0001611 HP:0001611 Nasal speech Phenotypic_abnormality 2 HP:0001612 HP:0001612 Weak cry Phenotypic_abnormality 2 HP:0001618 HP:0001618 Dysphonia Phenotypic_abnormality 2 HP:0001620 HP:0001620 High pitched voice Phenotypic_abnormality 2 HP:0001621 HP:0001621 Weak voice Phenotypic_abnormality 2 HP:0001622 HP:0001622 Premature birth Phenotypic_abnormality 2 HP:0001627 HP:0001627 Abnormality of cardiac morphology Phenotypic_abnormality 2 HP:0001686 HP:0001686 Loss of voice Phenotypic_abnormality 2 HP:0001787 HP:0001787 Abnormal delivery Phenotypic_abnormality 2 HP:0001789 HP:0001789 Hydrops fetalis Phenotypic_abnormality 2 HP:0001791 HP:0001791 Fetal ascites Phenotypic_abnormality 2 HP:0001872 HP:0001872 Abnormality of thrombocytes Phenotypic_abnormality 2 HP:0001877 HP:0001877 Abnormality of erythrocytes Phenotypic_abnormality 2 HP:0001881 HP:0001881 Abnormality of leukocytes Phenotypic_abnormality 2 HP:0001892 HP:0001892 Abnormal bleeding Phenotypic_abnormality 2 HP:0001928 HP:0001928 Abnormality of coagulation Phenotypic_abnormality 2 HP:0001946 HP:0001946 Ketosis Phenotypic_abnormality 2 HP:0001977 HP:0001977 Abnormal thrombosis Phenotypic_abnormality 2 HP:0001978 HP:0001978 Extramedullary hematopoiesis Phenotypic_abnormality 2 HP:0002012 HP:0002012 Abnormality of the abdominal organs Phenotypic_abnormality 2 HP:0002597 HP:0002597 Abnormality of the vasculature Phenotypic_abnormality 2 HP:0002686 HP:0002686 Prenatal maternal abnormality Phenotypic_abnormality 2 HP:0002795 HP:0002795 Functional respiratory abnormality Phenotypic_abnormality 2 HP:0002904 HP:0002904 Hyperbilirubinemia Phenotypic_abnormality 2 HP:0003110 HP:0003110 Abnormality of urine homeostasis Phenotypic_abnormality 2 HP:0003111 HP:0003111 Abnormality of ion homeostasis Phenotypic_abnormality 2 HP:0003117 HP:0003117 Abnormality of circulating hormone level Phenotypic_abnormality 2 HP:0003119 HP:0003119 Abnormality of lipid metabolism Phenotypic_abnormality 2 HP:0003343 HP:0003343 Glutathione synthetase deficiency Phenotypic_abnormality 2 HP:0003533 HP:0003533 Delayed oxidation of acetaldehyde Phenotypic_abnormality 2 HP:0003565 HP:0003565 Elevated erythrocyte sedimentation rate Phenotypic_abnormality 2 HP:0003570 HP:0003570 Molybdenum cofactor deficiency Phenotypic_abnormality 2 HP:0003800 HP:0003800 Muscle abnormality related to mitochondrial dysfunction Phenotypic_abnormality 2 HP:0004298 HP:0004298 Abnormality of the abdominal wall Phenotypic_abnormality 2 HP:0004323 HP:0004323 Abnormality of body weight Phenotypic_abnormality 2 HP:0004354 HP:0004354 Abnormality of carboxylic acid metabolism Phenotypic_abnormality 2 HP:0004358 HP:0004358 Abnormality of superoxide metabolism Phenotypic_abnormality 2 HP:0004360 HP:0004360 Abnormality of acid-base homeostasis Phenotypic_abnormality 2 HP:0004364 HP:0004364 Abnormality of nitrogen compound homeostasis Phenotypic_abnormality 2 HP:0004367 HP:0004367 Abnormality of glycoprotein metabolism Phenotypic_abnormality 2 HP:0004370 HP:0004370 Abnormality of temperature regulation Phenotypic_abnormality 2 HP:0004377 HP:0004377 Hematological neoplasm Phenotypic_abnormality 2 HP:0004404 HP:0004404 Abnormality of the nipple Phenotypic_abnormality 2 HP:0005561 HP:0005561 Abnormality of bone marrow cell morphology Phenotypic_abnormality 2 HP:0007379 HP:0007379 Neoplasm of the genitourinary tract Phenotypic_abnormality 2 HP:0008373 HP:0008373 Puberty and gonadal disorders Phenotypic_abnormality 2 HP:0008771 HP:0008771 Aplasia/Hypoplasia of the ear Phenotypic_abnormality 2 HP:0009025 HP:0009025 Increased connective tissue Phenotypic_abnormality 2 HP:0009088 HP:0009088 Speech articulation difficulties Phenotypic_abnormality 2 HP:0009124 HP:0009124 Abnormality of adipose tissue Phenotypic_abnormality 2 HP:0009127 HP:0009127 Abnormality of the musculature of the limbs Phenotypic_abnormality 2 HP:0009131 HP:0009131 Abnormality of the musculature of the thorax Phenotypic_abnormality 2 HP:0012372 HP:0012372 Abnormal eye morphology Phenotypic_abnormality 2 HP:0012373 HP:0012373 Abnormal eye physiology Phenotypic_abnormality 2 HP:0012379 HP:0012379 Abnormal enzyme/coenzyme activity Phenotypic_abnormality 2 HP:0012537 HP:0012537 Food intolerance Phenotypic_abnormality 2 HP:0012620 HP:0012620 Cloacal abnormality Phenotypic_abnormality 2 HP:0012638 HP:0012638 Abnormality of nervous system physiology Phenotypic_abnormality 2 HP:0012639 HP:0012639 Abnormality of nervous system morphology Phenotypic_abnormality 2 HP:0012680 HP:0012680 Abnormality of the pineal gland Phenotypic_abnormality 2 HP:0012780 HP:0012780 Neoplasm of the ear Phenotypic_abnormality 2 HP:0100013 HP:0100013 Neoplasm of the breast Phenotypic_abnormality 2 HP:0100016 HP:0100016 Abnormality of the mesentery Phenotypic_abnormality 2 HP:0100271 HP:0100271 Hyponasal speech Phenotypic_abnormality 2 HP:0100494 HP:0100494 Abnormality of mast cells Phenotypic_abnormality 2 HP:0100508 HP:0100508 Abnormality of vitamin metabolism Phenotypic_abnormality 2 HP:0100530 HP:0100530 Abnormality of calcium-phosphate metabolism Phenotypic_abnormality 2 HP:0100536 HP:0100536 Abnormality of the fascia Phenotypic_abnormality 2 HP:0100555 HP:0100555 Asymmetric growth Phenotypic_abnormality 2 HP:0100568 HP:0100568 Neoplasm of the endocrine system Phenotypic_abnormality 2 HP:0100589 HP:0100589 Urogenital fistula Phenotypic_abnormality 2 HP:0100658 HP:0100658 Cellulitis Phenotypic_abnormality 2 HP:0100685 HP:0100685 Abnormality of Sharpey fibers Phenotypic_abnormality 2 HP:0100699 HP:0100699 Scarring Phenotypic_abnormality 2 HP:0100758 HP:0100758 Gangrene Phenotypic_abnormality 2 HP:0100763 HP:0100763 Abnormality of the lymphatic system Phenotypic_abnormality 2 HP:0100790 HP:0100790 Hernia Phenotypic_abnormality 2 HP:0100829 HP:0100829 Galactorrhea Phenotypic_abnormality 2 HP:0100853 HP:0100853 Hypoplastic areola Phenotypic_abnormality 2 HP:0100881 HP:0100881 Congenital mesoblastic nephroma Phenotypic_abnormality 2 HP:0100898 HP:0100898 Connective tissue nevi Phenotypic_abnormality 2 HP:0200046 HP:0200046 Cat cry Phenotypic_abnormality 2 HP:0010300 HP:0010300 Abnormally low-pitched voice Phenotypic_abnormality 2 HP:0010311 HP:0010311 Aplasia/Hypoplasia of the breasts Phenotypic_abnormality 2 HP:0010312 HP:0010312 Asymmetry of the breasts Phenotypic_abnormality 2 HP:0010313 HP:0010313 Breast hypertrophy Phenotypic_abnormality 2 HP:0010472 HP:0010472 Abnormality of the heme biosynthetic pathway Phenotypic_abnormality 2 HP:0010766 HP:0010766 Ectopic calcification Phenotypic_abnormality 2 HP:0010876 HP:0010876 Abnormality of circulating protein level Phenotypic_abnormality 2 HP:0010880 HP:0010880 Increased nuchal translucency Phenotypic_abnormality 2 HP:0010932 HP:0010932 Abnormality of nucleobase metabolism Phenotypic_abnormality 2 HP:0010948 HP:0010948 Abnormality of the fetal cardiovascular system Phenotypic_abnormality 2 HP:0010978 HP:0010978 Abnormality of immune system physiology Phenotypic_abnormality 2 HP:0010987 HP:0010987 Abnormality of cellular immune system Phenotypic_abnormality 2 HP:0011006 HP:0011006 Abnormality of the musculature of the neck Phenotypic_abnormality 2 HP:0011013 HP:0011013 Abnormality of carbohydrate metabolism/homeostasis Phenotypic_abnormality 2 HP:0011017 HP:0011017 Abnormality of cell physiology Phenotypic_abnormality 2 HP:0011025 HP:0011025 Abnormality of cardiovascular system physiology Phenotypic_abnormality 2 HP:0011032 HP:0011032 Abnormality of fluid regulation Phenotypic_abnormality 2 HP:0011034 HP:0011034 Amyloidosis Phenotypic_abnormality 2 HP:0011138 HP:0011138 Abnormality of skin adnexa Phenotypic_abnormality 2 HP:0011425 HP:0011425 Fetal ultrasound soft marker Phenotypic_abnormality 2 HP:0011458 HP:0011458 Abdominal symptom Phenotypic_abnormality 2 HP:0011620 HP:0011620 Abnormality of abdominal situs Phenotypic_abnormality 2 HP:0011792 HP:0011792 Neoplasm by histology Phenotypic_abnormality 2 HP:0011793 HP:0011793 Neoplasm by anatomical site Phenotypic_abnormality 2 HP:0011804 HP:0011804 Abnormality of muscle physiology Phenotypic_abnormality 2 HP:0011805 HP:0011805 Abnormality of muscle morphology Phenotypic_abnormality 2 HP:0011842 HP:0011842 Abnormality of skeletal morphology Phenotypic_abnormality 2 HP:0011843 HP:0011843 Abnormality of skeletal physiology Phenotypic_abnormality 2 HP:0012029 HP:0012029 Abnormality of urine hormone level Phenotypic_abnormality 2 HP:0012252 HP:0012252 Abnormal respiratory system morphology Phenotypic_abnormality 2 HP:0012337 HP:0012337 Abnormal homeostasis Phenotypic_abnormality 2 HP:0009728 HP:0009728 Neoplasm of striated muscle Phenotypic_abnormality 3 HP:0009763 HP:0009763 Limb pain Phenotypic_abnormality 3 HP:0009794 HP:0009794 Branchial anomaly Phenotypic_abnormality 3 HP:0009800 HP:0009800 Maternal diabetes Phenotypic_abnormality 3 HP:0009806 HP:0009806 Nephrogenic diabetes insipidus Phenotypic_abnormality 3 HP:0009893 HP:0009893 Telangiectasia of the ear Phenotypic_abnormality 3 HP:0010307 HP:0010307 Stridor Phenotypic_abnormality 3 HP:0010471 HP:0010471 Oligosacchariduria Phenotypic_abnormality 3 HP:0010473 HP:0010473 Porphyrinuria Phenotypic_abnormality 3 HP:0010480 HP:0010480 Urethral fistula Phenotypic_abnormality 3 HP:0010512 HP:0010512 Adrenal calcification Phenotypic_abnormality 3 HP:0010519 HP:0010519 Increased fetal movement Phenotypic_abnormality 3 HP:0010566 HP:0010566 Hamartoma Phenotypic_abnormality 3 HP:0010568 HP:0010568 Hamartoma of the eye Phenotypic_abnormality 3 HP:0010622 HP:0010622 Neoplasm of the skeletal system Phenotypic_abnormality 3 HP:0010637 HP:0010637 Conjunctival amyloidosis Phenotypic_abnormality 3 HP:0010655 HP:0010655 Epiphyseal stippling Phenotypic_abnormality 3 HP:0010740 HP:0010740 Osteopathia striata Phenotypic_abnormality 3 HP:0010780 HP:0010780 Hyperacusis Phenotypic_abnormality 3 HP:0010787 HP:0010787 Genital neoplasm Phenotypic_abnormality 3 HP:0010866 HP:0010866 Abdominal wall defect Phenotypic_abnormality 3 HP:0010881 HP:0010881 Abnormality of the umbilical cord Phenotypic_abnormality 3 HP:0010885 HP:0010885 Aseptic necrosis Phenotypic_abnormality 3 HP:0010929 HP:0010929 Abnormality of cation homeostasis Phenotypic_abnormality 3 HP:0010935 HP:0010935 Abnormality of the upper urinary tract Phenotypic_abnormality 3 HP:0010936 HP:0010936 Abnormality of the lower urinary tract Phenotypic_abnormality 3 HP:0010942 HP:0010942 Echogenic intracardiac focus Phenotypic_abnormality 3 HP:0010943 HP:0010943 Echogenic fetal bowel Phenotypic_abnormality 3 HP:0010945 HP:0010945 Fetal pyelectasis Phenotypic_abnormality 3 HP:0010947 HP:0010947 Abnormality of ductus venosus blood flow Phenotypic_abnormality 3 HP:0010949 HP:0010949 Abnormality of umbilical vein blood flow Phenotypic_abnormality 3 HP:0010952 HP:0010952 Mild fetal ventriculomegaly Phenotypic_abnormality 3 HP:0010963 HP:0010963 Absence of stomach bubble on fetal sonography Phenotypic_abnormality 3 HP:0010968 HP:0010968 Abnormality of liposaccharide metabolism Phenotypic_abnormality 3 HP:0010970 HP:0010970 Blood group antigen abnormality Phenotypic_abnormality 3 HP:0010991 HP:0010991 Abnormality of the abdominal musculature Phenotypic_abnormality 3 HP:0010995 HP:0010995 Abnormality of dicarboxylic acid metabolism Phenotypic_abnormality 3 HP:0010996 HP:0010996 Abnormality of monocarboxylic acid metabolism Phenotypic_abnormality 3 HP:0011004 HP:0011004 Abnormality of the systemic arterial tree Phenotypic_abnormality 3 HP:0011012 HP:0011012 Abnormality of polysaccharide metabolism Phenotypic_abnormality 3 HP:0011014 HP:0011014 Abnormal glucose homeostasis Phenotypic_abnormality 3 HP:0011018 HP:0011018 Abnormality of the cell cycle Phenotypic_abnormality 3 HP:0011019 HP:0011019 Abnormality of chromosome condensation Phenotypic_abnormality 3 HP:0011021 HP:0011021 Abnormality of circulating enzyme level Phenotypic_abnormality 3 HP:0011024 HP:0011024 Abnormality of the gastrointestinal tract Phenotypic_abnormality 3 HP:0011028 HP:0011028 Abnormality of blood circulation Phenotypic_abnormality 3 HP:0011029 HP:0011029 Internal hemorrhage Phenotypic_abnormality 3 HP:0011033 HP:0011033 Impairment of fructose metabolism Phenotypic_abnormality 3 HP:0011043 HP:0011043 Abnormality of circulating adrenocorticotropin level Phenotypic_abnormality 3 HP:0011111 HP:0011111 Abnormality of immune serum protein physiology Phenotypic_abnormality 3 HP:0011133 HP:0011133 Increased sensitivity to ionizing radiation Phenotypic_abnormality 3 HP:0011227 HP:0011227 Elevated C-reactive protein level Phenotypic_abnormality 3 HP:0011273 HP:0011273 Anisocytosis Phenotypic_abnormality 3 HP:0011277 HP:0011277 Abnormality of the urinary system physiology Phenotypic_abnormality 3 HP:0011314 HP:0011314 Abnormality of long bone morphology Phenotypic_abnormality 3 HP:0011354 HP:0011354 Generalized abnormality of skin Phenotypic_abnormality 3 HP:0011355 HP:0011355 Localized skin lesion Phenotypic_abnormality 3 HP:0011356 HP:0011356 Regional abnormality of skin Phenotypic_abnormality 3 HP:0011389 HP:0011389 Functional abnormality of the inner ear Phenotypic_abnormality 3 HP:0011390 HP:0011390 Morphological abnormality of the inner ear Phenotypic_abnormality 3 HP:0011409 HP:0011409 Abnormality of placental membranes Phenotypic_abnormality 3 HP:0011410 HP:0011410 Caesarian section Phenotypic_abnormality 3 HP:0011411 HP:0011411 Forceps delivery Phenotypic_abnormality 3 HP:0011412 HP:0011412 Ventouse delivery Phenotypic_abnormality 3 HP:0011413 HP:0011413 Shoulder dystocia Phenotypic_abnormality 3 HP:0011422 HP:0011422 Abnormality of chloride homeostasis Phenotypic_abnormality 3 HP:0011426 HP:0011426 Fetal choroid plexus cysts Phenotypic_abnormality 3 HP:0011427 HP:0011427 Enlarged fetal cisterna magna Phenotypic_abnormality 3 HP:0011428 HP:0011428 Short fetal femur length Phenotypic_abnormality 3 HP:0011429 HP:0011429 Short fetal humerus length Phenotypic_abnormality 3 HP:0011430 HP:0011430 Hypoplasia of fetal nasal bone Phenotypic_abnormality 3 HP:0011431 HP:0011431 Fetal fifth finger clinodactyly Phenotypic_abnormality 3 HP:0011436 HP:0011436 Abnormal maternal serum screening Phenotypic_abnormality 3 HP:0011437 HP:0011437 Maternal autoimmune disease Phenotypic_abnormality 3 HP:0011438 HP:0011438 Maternal teratogenic exposure Phenotypic_abnormality 3 HP:0011442 HP:0011442 Abnormality of central motor function Phenotypic_abnormality 3 HP:0011446 HP:0011446 Abnormality of higher mental function Phenotypic_abnormality 3 HP:0011452 HP:0011452 Functional abnormality of the middle ear Phenotypic_abnormality 3 HP:0011615 HP:0011615 Abnormality of pulmonary situs Phenotypic_abnormality 3 HP:0011675 HP:0011675 Arrhythmia Phenotypic_abnormality 3 HP:0011726 HP:0011726 Persistent fetal circulation Phenotypic_abnormality 3 HP:0011730 HP:0011730 Abnormality of central sensory function Phenotypic_abnormality 3 HP:0011732 HP:0011732 Abnormality of adrenal morphology Phenotypic_abnormality 3 HP:0011733 HP:0011733 Abnormality of adrenal physiology Phenotypic_abnormality 3 HP:0011766 HP:0011766 Abnormality of the parathyroid morphology Phenotypic_abnormality 3 HP:0011767 HP:0011767 Abnormality of the parathyroid physiology Phenotypic_abnormality 3 HP:0011772 HP:0011772 Abnormality of thyroid morphology Phenotypic_abnormality 3 HP:0011844 HP:0011844 Abnormal appendicular skeleton morphology Phenotypic_abnormality 3 HP:0011869 HP:0011869 Abnormal platelet function Phenotypic_abnormality 3 HP:0011873 HP:0011873 Abnormal platelet count Phenotypic_abnormality 3 HP:0011875 HP:0011875 Abnormal platelet morphology Phenotypic_abnormality 3 HP:0011876 HP:0011876 Abnormal platelet volume Phenotypic_abnormality 3 HP:0011884 HP:0011884 Abnormal umbilical stump bleeding Phenotypic_abnormality 3 HP:0011885 HP:0011885 Hemorrhage of the eye Phenotypic_abnormality 3 HP:0011888 HP:0011888 Bleeding requiring red cell transfusion Phenotypic_abnormality 3 HP:0011889 HP:0011889 Bleeding with minor or no trauma Phenotypic_abnormality 3 HP:0011890 HP:0011890 Prolonged bleeding following procedure Phenotypic_abnormality 3 HP:0011902 HP:0011902 Abnormal hemoglobin Phenotypic_abnormality 3 HP:0011915 HP:0011915 Cardiovascular calcification Phenotypic_abnormality 3 HP:0011957 HP:0011957 Abnormality of the pectoral muscle Phenotypic_abnormality 3 HP:0011968 HP:0011968 Feeding difficulties Phenotypic_abnormality 3 HP:0011970 HP:0011970 Cerebral amyloid angiopathy Phenotypic_abnormality 3 HP:0011977 HP:0011977 Elevated urinary homovanillic acid Phenotypic_abnormality 3 HP:0011978 HP:0011978 Elevated urinary vanillylmandelic acid Phenotypic_abnormality 3 HP:0012021 HP:0012021 Persistent patent ductus venosus Phenotypic_abnormality 3 HP:0012022 HP:0012022 Congenital portosystemic venous shunt Phenotypic_abnormality 3 HP:0012030 HP:0012030 Increased urinary cortisol level Phenotypic_abnormality 3 HP:0012067 HP:0012067 Glycopeptiduria Phenotypic_abnormality 3 HP:0012099 HP:0012099 Abnormality of circulating catecholamine level Phenotypic_abnormality 3 HP:0012100 HP:0012100 Abnormal circulating creatinine level Phenotypic_abnormality 3 HP:0012103 HP:0012103 Abnormality of the mitochondrion Phenotypic_abnormality 3 HP:0012111 HP:0012111 Abnormality of circulating glucocorticoid level Phenotypic_abnormality 3 HP:0012116 HP:0012116 Abnormal albumin level Phenotypic_abnormality 3 HP:0012129 HP:0012129 Abnormality of bone marrow stromal cells Phenotypic_abnormality 3 HP:0012130 HP:0012130 Abnormality of cells of the erythroid lineage Phenotypic_abnormality 3 HP:0012135 HP:0012135 Abnormality of cells of the granulocytic lineage Phenotypic_abnormality 3 HP:0012140 HP:0012140 Abnormality of cells of the lymphoid lineage Phenotypic_abnormality 3 HP:0012143 HP:0012143 Abnormality of cells of the megakaryocyte lineage Phenotypic_abnormality 3 HP:0012144 HP:0012144 Abnormality of cells of the monocyte/macrophage lineage Phenotypic_abnormality 3 HP:0012145 HP:0012145 Abnormality of multiple cell lineages in the bone marrow Phenotypic_abnormality 3 HP:0012153 HP:0012153 Hypotriglyceridemia Phenotypic_abnormality 3 HP:0012187 HP:0012187 Increased erythrocyte protoporphyrin concentration Phenotypic_abnormality 3 HP:0012188 HP:0012188 Hyperemesis gravidarum Phenotypic_abnormality 3 HP:0012217 HP:0012217 Increased urinary porphobilinogen Phenotypic_abnormality 3 HP:0012233 HP:0012233 Intramuscular hematoma Phenotypic_abnormality 3 HP:0012239 HP:0012239 Atransferrinemia Phenotypic_abnormality 3 HP:0012243 HP:0012243 Abnormal genital system morphology Phenotypic_abnormality 3 HP:0012253 HP:0012253 Abnormal respiratory epithelium morphology Phenotypic_abnormality 3 HP:0012261 HP:0012261 Abnormal respiratory motile cilium physiology Phenotypic_abnormality 3 HP:0012280 HP:0012280 Hepatic amyloidosis Phenotypic_abnormality 3 HP:0012285 HP:0012285 Abnormal hypothalamus physiology Phenotypic_abnormality 3 HP:0012288 HP:0012288 Neoplasm of head and neck Phenotypic_abnormality 3 HP:0012309 HP:0012309 Cutaneous amyloidosis Phenotypic_abnormality 3 HP:0012316 HP:0012316 Fibrous tissue neoplasm Phenotypic_abnormality 3 HP:0012338 HP:0012338 Abnormal energy expenditure Phenotypic_abnormality 3 HP:0012345 HP:0012345 Abnormal glycosylation Phenotypic_abnormality 3 HP:0004299 HP:0004299 Hernia of the abdominal wall Phenotypic_abnormality 3 HP:0004302 HP:0004302 Functional motor problems. Phenotypic_abnormality 3 HP:0004303 HP:0004303 Abnormality of muscle fibers Phenotypic_abnormality 3 HP:0004305 HP:0004305 Involuntary movements Phenotypic_abnormality 3 HP:0004306 HP:0004306 Abnormality of the endocardium Phenotypic_abnormality 3 HP:0004312 HP:0004312 Abnormality of reticulocytes Phenotypic_abnormality 3 HP:0004320 HP:0004320 Vaginal fistula Phenotypic_abnormality 3 HP:0004321 HP:0004321 Bladder fistula Phenotypic_abnormality 3 HP:0004322 HP:0004322 Short stature Phenotypic_abnormality 3 HP:0004324 HP:0004324 Increased body weight Phenotypic_abnormality 3 HP:0004325 HP:0004325 Decreased body weight Phenotypic_abnormality 3 HP:0004337 HP:0004337 Abnormality of amino acid metabolism Phenotypic_abnormality 3 HP:0004340 HP:0004340 Abnormality of vitamin B metabolism Phenotypic_abnormality 3 HP:0004347 HP:0004347 Weakness of muscles of respiration Phenotypic_abnormality 3 HP:0004352 HP:0004352 Abnormality of purine metabolism Phenotypic_abnormality 3 HP:0004353 HP:0004353 Abnormality of pyrimidine metabolism Phenotypic_abnormality 3 HP:0004355 HP:0004355 Abnormality of proteoglycan metabolism Phenotypic_abnormality 3 HP:0004356 HP:0004356 Abnormality of lysosomal metabolism Phenotypic_abnormality 3 HP:0004359 HP:0004359 Abnormality of fatty-acid metabolism Phenotypic_abnormality 3 HP:0004361 HP:0004361 Abnormality of circulating leptin level Phenotypic_abnormality 3 HP:0004366 HP:0004366 Abnormality of glycolysis Phenotypic_abnormality 3 HP:0004375 HP:0004375 Neoplasm of the nervous system Phenotypic_abnormality 3 HP:0004379 HP:0004379 Abnormality of alkaline phosphatase activity Phenotypic_abnormality 3 HP:0004392 HP:0004392 Prune belly Phenotypic_abnormality 3 HP:0004395 HP:0004395 Malnutrition Phenotypic_abnormality 3 HP:0004396 HP:0004396 Poor appetite Phenotypic_abnormality 3 HP:0004405 HP:0004405 Prominent nipples Phenotypic_abnormality 3 HP:0004420 HP:0004420 Arterial thrombosis Phenotypic_abnormality 3 HP:0004447 HP:0004447 Poikilocytosis Phenotypic_abnormality 3 HP:0004825 HP:0004825 Increased hemoglobin oxygen affinity Phenotypic_abnormality 3 HP:0004871 HP:0004871 Perineal fistula Phenotypic_abnormality 3 HP:0004915 HP:0004915 Impairment of galactose metabolism Phenotypic_abnormality 3 HP:0004930 HP:0004930 Abnormality of the pulmonary vasculature Phenotypic_abnormality 3 HP:0004934 HP:0004934 Vascular calcification Phenotypic_abnormality 3 HP:0004936 HP:0004936 Venous thrombosis Phenotypic_abnormality 3 HP:0004948 HP:0004948 Vascular tortuosity Phenotypic_abnormality 3 HP:0005103 HP:0005103 Calcification of the auricular cartilage Phenotypic_abnormality 3 HP:0005213 HP:0005213 Pancreatic calcification Phenotypic_abnormality 3 HP:0005217 HP:0005217 Duplication of internal organs Phenotypic_abnormality 3 HP:0005267 HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility Phenotypic_abnormality 3 HP:0005268 HP:0005268 Spontaneous abortion Phenotypic_abnormality 3 HP:0005345 HP:0005345 Abnormality of the vena cava Phenotypic_abnormality 3 HP:0005368 HP:0005368 Abnormality of humoral immunity Phenotypic_abnormality 3 HP:0005502 HP:0005502 Increased red cell osmotic fragility Phenotypic_abnormality 3 HP:0005518 HP:0005518 Erythrocyte macrocytosis Phenotypic_abnormality 3 HP:0005521 HP:0005521 Disseminated intravascular coagulation Phenotypic_abnormality 3 HP:0005542 HP:0005542 Prolonged whole-blood clotting time Phenotypic_abnormality 3 HP:0005546 HP:0005546 Increased red cell osmotic resistance Phenotypic_abnormality 3 HP:0005559 HP:0005559 Abnormality of the kinin-kallikrein system Phenotypic_abnormality 3 HP:0005645 HP:0005645 Intervertebral disk calcification Phenotypic_abnormality 3 HP:0005952 HP:0005952 Decreased pulmonary function Phenotypic_abnormality 3 HP:0005957 HP:0005957 Breathing dysregulation Phenotypic_abnormality 3 HP:0005968 HP:0005968 Temperature instability Phenotypic_abnormality 3 HP:0005986 HP:0005986 Limitation of neck motion Phenotypic_abnormality 3 HP:0005989 HP:0005989 Redundant neck skin Phenotypic_abnormality 3 HP:0006254 HP:0006254 Elevated alpha-fetoprotein Phenotypic_abnormality 3 HP:0006514 HP:0006514 Intraalveolar nodular calcifications Phenotypic_abnormality 3 HP:0006529 HP:0006529 Abnormal pulmonary lymphatics Phenotypic_abnormality 3 HP:0006559 HP:0006559 Hepatic calcification Phenotypic_abnormality 3 HP:0006610 HP:0006610 Wide intermamillary distance Phenotypic_abnormality 3 HP:0006619 HP:0006619 Anterior rib punctate calcifications Phenotypic_abnormality 3 HP:0006637 HP:0006637 Sternal punctate calcifications Phenotypic_abnormality 3 HP:0006709 HP:0006709 Aplasia/Hypoplasia of the nipples Phenotypic_abnormality 3 HP:0006729 HP:0006729 Retroperitoneal chemodectomas Phenotypic_abnormality 3 HP:0006756 HP:0006756 Diffuse leiomyomatosis Phenotypic_abnormality 3 HP:0006901 HP:0006901 Impaired thermal sensitivity Phenotypic_abnormality 3 HP:0007352 HP:0007352 Cerebellar calcifications Phenotypic_abnormality 3 HP:0007378 HP:0007378 Neoplasm of the gastrointestinal tract Phenotypic_abnormality 3 HP:0007618 HP:0007618 Subcutaneous calcification Phenotypic_abnormality 3 HP:0007777 HP:0007777 Chorioretinal scars Phenotypic_abnormality 3 HP:0007862 HP:0007862 Retinal calcification Phenotypic_abnormality 3 HP:0008047 HP:0008047 Abnormality of the vasculature of the eye Phenotypic_abnormality 3 HP:0008049 HP:0008049 Abnormality of the extraocular muscles Phenotypic_abnormality 3 HP:0008069 HP:0008069 Neoplasm of the skin Phenotypic_abnormality 3 HP:0008072 HP:0008072 Maternal virilization in pregnancy Phenotypic_abnormality 3 HP:0008131 HP:0008131 Tarsal stippling Phenotypic_abnormality 3 HP:0008158 HP:0008158 Hyperapobetalipoproteinemia Phenotypic_abnormality 3 HP:0008176 HP:0008176 Neonatal unconjugated hyperbilirubinemia Phenotypic_abnormality 3 HP:0008187 HP:0008187 Absence of secondary sex characteristics Phenotypic_abnormality 3 HP:0008193 HP:0008193 Primary gonadal insufficiency Phenotypic_abnormality 3 HP:0008197 HP:0008197 Absence of pubertal development Phenotypic_abnormality 3 HP:0008214 HP:0008214 Decreased serum estradiol Phenotypic_abnormality 3 HP:0008226 HP:0008226 Androgen insufficiency Phenotypic_abnormality 3 HP:0008229 HP:0008229 Thyroid lymphangiectasia Phenotypic_abnormality 3 HP:0008230 HP:0008230 Decreased testosterone in males Phenotypic_abnormality 3 HP:0008233 HP:0008233 Decreased serum progesterone Phenotypic_abnormality 3 HP:0008282 HP:0008282 Unconjugated hyperbilirubinemia Phenotypic_abnormality 3 HP:0008372 HP:0008372 Abnormality of vitamin A metabolism Phenotypic_abnormality 3 HP:0008420 HP:0008420 Punctate vertebral calcifications Phenotypic_abnormality 3 HP:0008572 HP:0008572 External ear malformation Phenotypic_abnormality 3 HP:0008605 HP:0008605 Unilateral external ear deformity Phenotypic_abnormality 3 HP:0008608 HP:0008608 Hypertrophic auricular cartilage Phenotypic_abnormality 3 HP:0008609 HP:0008609 Morphological abnormality of the middle ear Phenotypic_abnormality 3 HP:0008703 HP:0008703 Gonadal calcification Phenotypic_abnormality 3 HP:0008754 HP:0008754 Laryngeal calcification Phenotypic_abnormality 3 HP:0008772 HP:0008772 Aplasia/Hypoplasia of the external ear Phenotypic_abnormality 3 HP:0008773 HP:0008773 Aplasia/Hypoplasia of the middle ear Phenotypic_abnormality 3 HP:0008774 HP:0008774 Aplasia/Hypoplasia of the inner ear Phenotypic_abnormality 3 HP:0008897 HP:0008897 Postnatal growth retardation Phenotypic_abnormality 3 HP:0009011 HP:0009011 Hypoplasia of serratus anterior muscle Phenotypic_abnormality 3 HP:0009026 HP:0009026 Hypoplasia of latissimus dorsi muscle Phenotypic_abnormality 3 HP:0009115 HP:0009115 Aplasia/hypoplasia involving the skeleton Phenotypic_abnormality 3 HP:0009121 HP:0009121 Abnormal axial skeleton morphology Phenotypic_abnormality 3 HP:0009125 HP:0009125 Lipodystrophy Phenotypic_abnormality 3 HP:0009126 HP:0009126 Increased adipose tissue Phenotypic_abnormality 3 HP:0009141 HP:0009141 Depletion of mitochondrial DNA in muscle tissue Phenotypic_abnormality 3 HP:0009164 HP:0009164 Abnormal calcification of the carpal bones Phenotypic_abnormality 3 HP:0000080 HP:0000080 Abnormality of genital physiology Phenotypic_abnormality 3 HP:0000098 HP:0000098 Tall stature Phenotypic_abnormality 3 HP:0000132 HP:0000132 Menorrhagia Phenotypic_abnormality 3 HP:0000135 HP:0000135 Hypogonadism Phenotypic_abnormality 3 HP:0000140 HP:0000140 Abnormality of the menstrual cycle Phenotypic_abnormality 3 HP:0000225 HP:0000225 Gingival bleeding Phenotypic_abnormality 3 HP:0000271 HP:0000271 Abnormality of the face Phenotypic_abnormality 3 HP:0000291 HP:0000291 Abnormality of facial adipose tissue Phenotypic_abnormality 3 HP:0000357 HP:0000357 Abnormal location of ears Phenotypic_abnormality 3 HP:0000360 HP:0000360 Tinnitus Phenotypic_abnormality 3 HP:0000365 HP:0000365 Hearing impairment Phenotypic_abnormality 3 HP:0000372 HP:0000372 Abnormality of the auditory canal Phenotypic_abnormality 3 HP:0000377 HP:0000377 Abnormality of the pinna Phenotypic_abnormality 3 HP:0000383 HP:0000383 Abnormality of periauricular region Phenotypic_abnormality 3 HP:0000388 HP:0000388 Otitis media Phenotypic_abnormality 3 HP:0000421 HP:0000421 Epistaxis Phenotypic_abnormality 3 HP:0000465 HP:0000465 Webbed neck Phenotypic_abnormality 3 HP:0000468 HP:0000468 Increased adipose tissue around the neck Phenotypic_abnormality 3 HP:0000470 HP:0000470 Short neck Phenotypic_abnormality 3 HP:0000472 HP:0000472 Long neck Phenotypic_abnormality 3 HP:0000474 HP:0000474 Thickened nuchal skin fold Phenotypic_abnormality 3 HP:0000475 HP:0000475 Broad neck Phenotypic_abnormality 3 HP:0000476 HP:0000476 Cystic hygroma Phenotypic_abnormality 3 HP:0000496 HP:0000496 Abnormality of eye movement Phenotypic_abnormality 3 HP:0000501 HP:0000501 Glaucoma Phenotypic_abnormality 3 HP:0000502 HP:0000502 Abnormality of the conjunctiva Phenotypic_abnormality 3 HP:0000504 HP:0000504 Abnormality of vision Phenotypic_abnormality 3 HP:0000508 HP:0000508 Ptosis Phenotypic_abnormality 3 HP:0000539 HP:0000539 Abnormality of refraction Phenotypic_abnormality 3 HP:0000559 HP:0000559 Corneal scarring Phenotypic_abnormality 3 HP:0000589 HP:0000589 Coloboma Phenotypic_abnormality 3 HP:0000600 HP:0000600 Abnormality of the pharynx Phenotypic_abnormality 3 HP:0000614 HP:0000614 Abnormality of the nasolacrimal system Phenotypic_abnormality 3 HP:0000632 HP:0000632 Lacrimation abnormality Phenotypic_abnormality 3 HP:0000708 HP:0000708 Behavioral abnormality Phenotypic_abnormality 3 HP:0000759 HP:0000759 Abnormality of the peripheral nervous system Phenotypic_abnormality 3 HP:0000776 HP:0000776 Congenital diaphragmatic hernia Phenotypic_abnormality 3 HP:0000777 HP:0000777 Abnormality of the thymus Phenotypic_abnormality 3 HP:0000809 HP:0000809 Urinary tract atresia Phenotypic_abnormality 3 HP:0000822 HP:0000822 Hypertension Phenotypic_abnormality 3 HP:0000823 HP:0000823 Delayed puberty Phenotypic_abnormality 3 HP:0000824 HP:0000824 Growth hormone deficiency Phenotypic_abnormality 3 HP:0000840 HP:0000840 Adrenogenital syndrome Phenotypic_abnormality 3 HP:0000841 HP:0000841 Hyperactive renin-angiotensin system Phenotypic_abnormality 3 HP:0000842 HP:0000842 Hyperinsulinemia Phenotypic_abnormality 3 HP:0000848 HP:0000848 Increased circulating renin level Phenotypic_abnormality 3 HP:0000863 HP:0000863 Central diabetes insipidus Phenotypic_abnormality 3 HP:0000927 HP:0000927 Abnormality of skeletal maturation Phenotypic_abnormality 3 HP:0000929 HP:0000929 Abnormality of the skull Phenotypic_abnormality 3 HP:0000934 HP:0000934 Chondrocalcinosis Phenotypic_abnormality 3 HP:0000943 HP:0000943 Dysostosis multiplex Phenotypic_abnormality 3 HP:0000961 HP:0000961 Cyanosis Phenotypic_abnormality 3 HP:0000969 HP:0000969 Edema Phenotypic_abnormality 3 HP:0000971 HP:0000971 Abnormality of the sweat gland Phenotypic_abnormality 3 HP:0000987 HP:0000987 Atypical scarring of skin Phenotypic_abnormality 3 HP:0001001 HP:0001001 Abnormality of subcutaneous fat tissue Phenotypic_abnormality 3 HP:0001195 HP:0001195 Single umbilical artery Phenotypic_abnormality 3 HP:0001250 HP:0001250 Seizures Phenotypic_abnormality 3 HP:0001279 HP:0001279 Syncope Phenotypic_abnormality 3 HP:0001281 HP:0001281 Tetany Phenotypic_abnormality 3 HP:0001283 HP:0001283 Bulbar palsy Phenotypic_abnormality 3 HP:0001298 HP:0001298 Encephalopathy Phenotypic_abnormality 3 HP:0001311 HP:0001311 Abnormal nervous system electrophysiology Phenotypic_abnormality 3 HP:0001315 HP:0001315 Reduced tendon reflexes Phenotypic_abnormality 3 HP:0001324 HP:0001324 Muscle weakness Phenotypic_abnormality 3 HP:0001367 HP:0001367 Abnormal joint morphology Phenotypic_abnormality 3 HP:0001392 HP:0001392 Abnormality of the liver Phenotypic_abnormality 3 HP:0001443 HP:0001443 Abnormality of the gluteal musculature Phenotypic_abnormality 3 HP:0001445 HP:0001445 Abnormality of the hip-girdle musculature Phenotypic_abnormality 3 HP:0001460 HP:0001460 Aplasia/Hypoplasia involving the musculature Phenotypic_abnormality 3 HP:0001471 HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvis Phenotypic_abnormality 3 HP:0001511 HP:0001511 Intrauterine growth retardation Phenotypic_abnormality 3 HP:0001520 HP:0001520 Large for gestational age Phenotypic_abnormality 3 HP:0001528 HP:0001528 Hemihypertrophy Phenotypic_abnormality 3 HP:0001541 HP:0001541 Ascites Phenotypic_abnormality 3 HP:0001551 HP:0001551 Abnormality of the umbilicus Phenotypic_abnormality 3 HP:0001558 HP:0001558 Decreased fetal movement Phenotypic_abnormality 3 HP:0001561 HP:0001561 Polyhydramnios Phenotypic_abnormality 3 HP:0001562 HP:0001562 Oligohydramnios Phenotypic_abnormality 3 HP:0001563 HP:0001563 Fetal polyuria Phenotypic_abnormality 3 HP:0001595 HP:0001595 Abnormality of the hair Phenotypic_abnormality 3 HP:0001597 HP:0001597 Abnormality of the nail Phenotypic_abnormality 3 HP:0001613 HP:0001613 Hoarse voice (caused by tumor impingement) Phenotypic_abnormality 3 HP:0001615 HP:0001615 Hoarse cry Phenotypic_abnormality 3 HP:0001623 HP:0001623 Breech presentation Phenotypic_abnormality 3 HP:0001635 HP:0001635 Congestive heart failure Phenotypic_abnormality 3 HP:0001640 HP:0001640 Cardiomegaly Phenotypic_abnormality 3 HP:0001693 HP:0001693 Cardiac shunt Phenotypic_abnormality 3 HP:0001732 HP:0001732 Abnormality of the pancreas Phenotypic_abnormality 3 HP:0001743 HP:0001743 Abnormality of the spleen Phenotypic_abnormality 3 HP:0001788 HP:0001788 Premature rupture of membranes Phenotypic_abnormality 3 HP:0001901 HP:0001901 Polycythemia Phenotypic_abnormality 3 HP:0001903 HP:0001903 Anemia Phenotypic_abnormality 3 HP:0001907 HP:0001907 Thromboembolism Phenotypic_abnormality 3 HP:0001917 HP:0001917 Renal amyloidosis Phenotypic_abnormality 3 HP:0001933 HP:0001933 Subcutaneous hemorrhage Phenotypic_abnormality 3 HP:0001934 HP:0001934 Persistent bleeding after trauma Phenotypic_abnormality 3 HP:0001941 HP:0001941 Acidosis Phenotypic_abnormality 3 HP:0001944 HP:0001944 Dehydration Phenotypic_abnormality 3 HP:0001945 HP:0001945 Fever Phenotypic_abnormality 3 HP:0001948 HP:0001948 Alkalosis Phenotypic_abnormality 3 HP:0001951 HP:0001951 Episodic ammonia intoxication Phenotypic_abnormality 3 HP:0001963 HP:0001963 Abnormal speech discrimination Phenotypic_abnormality 3 HP:0001965 HP:0001965 Abnormality of the scalp Phenotypic_abnormality 3 HP:0001984 HP:0001984 Intolerance to protein Phenotypic_abnormality 3 HP:0001993 HP:0001993 Ketoacidosis Phenotypic_abnormality 3 HP:0002011 HP:0002011 Morphological abnormality of the central nervous system Phenotypic_abnormality 3 HP:0002014 HP:0002014 Diarrhea Phenotypic_abnormality 3 HP:0002015 HP:0002015 Dysphagia Phenotypic_abnormality 3 HP:0002017 HP:0002017 Nausea and vomiting Phenotypic_abnormality 3 HP:0002019 HP:0002019 Constipation Phenotypic_abnormality 3 HP:0002027 HP:0002027 Abdominal pain Phenotypic_abnormality 3 HP:0002038 HP:0002038 Protein avoidance Phenotypic_abnormality 3 HP:0002039 HP:0002039 Anorexia Phenotypic_abnormality 3 HP:0002045 HP:0002045 Hypothermia Phenotypic_abnormality 3 HP:0002046 HP:0002046 Heat intolerance Phenotypic_abnormality 3 HP:0002047 HP:0002047 Malignant hyperthermia Phenotypic_abnormality 3 HP:0002087 HP:0002087 Abnormality of the upper respiratory tract Phenotypic_abnormality 3 HP:0002088 HP:0002088 Abnormality of the lung Phenotypic_abnormality 3 HP:0002093 HP:0002093 Respiratory insufficiency Phenotypic_abnormality 3 HP:0002152 HP:0002152 Hyperproteinemia Phenotypic_abnormality 3 HP:0002157 HP:0002157 Azotemia Phenotypic_abnormality 3 HP:0002162 HP:0002162 Low posterior hairline Phenotypic_abnormality 3 HP:0002200 HP:0002200 Pseudobulbar signs Phenotypic_abnormality 3 HP:0002270 HP:0002270 Abnormality of the autonomic nervous system Phenotypic_abnormality 3 HP:0002315 HP:0002315 Headache Phenotypic_abnormality 3 HP:0002360 HP:0002360 Sleep disturbance Phenotypic_abnormality 3 HP:0002483 HP:0002483 Bulbar signs Phenotypic_abnormality 3 HP:0002486 HP:0002486 Myotonia Phenotypic_abnormality 3 HP:0002514 HP:0002514 Cerebral calcification Phenotypic_abnormality 3 HP:0002524 HP:0002524 Cataplexy Phenotypic_abnormality 3 HP:0002558 HP:0002558 Supernumerary nipples Phenotypic_abnormality 3 HP:0002562 HP:0002562 Low-set nipples Phenotypic_abnormality 3 HP:0002564 HP:0002564 Malformation of the heart and great vessels Phenotypic_abnormality 3 HP:0002585 HP:0002585 Abnormality of the peritoneum Phenotypic_abnormality 3 HP:0002615 HP:0002615 Hypotension Phenotypic_abnormality 3 HP:0002617 HP:0002617 Aneurysm Phenotypic_abnormality 3 HP:0002624 HP:0002624 Venous abnormality Phenotypic_abnormality 3 HP:0002633 HP:0002633 Vasculitis Phenotypic_abnormality 3 HP:0002634 HP:0002634 Arteriosclerosis Phenotypic_abnormality 3 HP:0002641 HP:0002641 Peripheral thrombosis Phenotypic_abnormality 3 HP:0002652 HP:0002652 Skeletal dysplasia Phenotypic_abnormality 3 HP:0002653 HP:0002653 Bone pain Phenotypic_abnormality 3 HP:0002659 HP:0002659 Increased susceptibility to fractures Phenotypic_abnormality 3 HP:0002719 HP:0002719 Recurrent infections Phenotypic_abnormality 3 HP:0002721 HP:0002721 Immunodeficiency Phenotypic_abnormality 3 HP:0002733 HP:0002733 Abnormality of the lymph nodes Phenotypic_abnormality 3 HP:0002754 HP:0002754 Osteomyelitis Phenotypic_abnormality 3 HP:0002763 HP:0002763 Abnormal cartilage morphology Phenotypic_abnormality 3 HP:0002787 HP:0002787 Tracheal calcification Phenotypic_abnormality 3 HP:0002792 HP:0002792 Reduced vital capacity Phenotypic_abnormality 3 HP:0002793 HP:0002793 Abnormal pattern of respiration Phenotypic_abnormality 3 HP:0002832 HP:0002832 Calcific stippling Phenotypic_abnormality 3 HP:0002835 HP:0002835 Aspiration Phenotypic_abnormality 3 HP:0002861 HP:0002861 Melanoma Phenotypic_abnormality 3 HP:0002880 HP:0002880 Respiratory difficulties Phenotypic_abnormality 3 HP:0002894 HP:0002894 Neoplasm of the pancreas Phenotypic_abnormality 3 HP:0002898 HP:0002898 Embryonal neoplasm Phenotypic_abnormality 3 HP:0002908 HP:0002908 Conjugated hyperbilirubinemia Phenotypic_abnormality 3 HP:0002916 HP:0002916 Abnormality of chromosome segregation Phenotypic_abnormality 3 HP:0002924 HP:0002924 Decreased circulating aldosterone level Phenotypic_abnormality 3 HP:0002926 HP:0002926 Abnormality of thyroid physiology Phenotypic_abnormality 3 HP:0002929 HP:0002929 Leydig cell insensitivity to gonadotropin Phenotypic_abnormality 3 HP:0002932 HP:0002932 Aldehyde oxidase deficiency Phenotypic_abnormality 3 HP:0002958 HP:0002958 Immune dysregulation Phenotypic_abnormality 3 HP:0002960 HP:0002960 Autoimmunity Phenotypic_abnormality 3 HP:0003010 HP:0003010 Prolonged bleeding time Phenotypic_abnormality 3 HP:0003075 HP:0003075 Hypoproteinemia Phenotypic_abnormality 3 HP:0003077 HP:0003077 Hyperlipidemia Phenotypic_abnormality 3 HP:0003107 HP:0003107 Abnormality of cholesterol metabolism Phenotypic_abnormality 3 HP:0003115 HP:0003115 Abnormal EKG Phenotypic_abnormality 3 HP:0003116 HP:0003116 Abnormal echocardiogram Phenotypic_abnormality 3 HP:0003144 HP:0003144 Increased serum serotonin Phenotypic_abnormality 3 HP:0003152 HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 Phenotypic_abnormality 3 HP:0003162 HP:0003162 Fasting hypoglycemia Phenotypic_abnormality 3 HP:0003163 HP:0003163 Elevated urinary delta-aminolevulinic acid Phenotypic_abnormality 3 HP:0003164 HP:0003164 Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency Phenotypic_abnormality 3 HP:0003165 HP:0003165 Elevated circulating parathyroid hormone (PTH) level Phenotypic_abnormality 3 HP:0003186 HP:0003186 Inverted nipples Phenotypic_abnormality 3 HP:0003187 HP:0003187 Breast hypoplasia Phenotypic_abnormality 3 HP:0003198 HP:0003198 Myopathy Phenotypic_abnormality 3 HP:0003199 HP:0003199 Decreased muscle mass Phenotypic_abnormality 3 HP:0003201 HP:0003201 Rhabdomyolysis Phenotypic_abnormality 3 HP:0003202 HP:0003202 Amyotrophy Phenotypic_abnormality 3 HP:0003204 HP:0003204 Intracellular accumulation of autofluorescent lipopigment storage material Phenotypic_abnormality 3 HP:0003206 HP:0003206 Decreased activity of NADPH oxidase Phenotypic_abnormality 3 HP:0003209 HP:0003209 Decreased pyruvate carboxylase activity Phenotypic_abnormality 3 HP:0003210 HP:0003210 Decreased methylmalonyl-CoA mutase activity Phenotypic_abnormality 3 HP:0003216 HP:0003216 Generalized amyloid deposition Phenotypic_abnormality 3 HP:0003220 HP:0003220 Abnormality of chromosome stability Phenotypic_abnormality 3 HP:0003224 HP:0003224 Increased cellular sensitivity to UV light Phenotypic_abnormality 3 HP:0003238 HP:0003238 Hyperpepsinogenemia I Phenotypic_abnormality 3 HP:0003240 HP:0003240 Increased phosphoribosylpyrophosphate (PRPP) synthetase Phenotypic_abnormality 3 HP:0003254 HP:0003254 Abnormality of DNA repair Phenotypic_abnormality 3 HP:0003256 HP:0003256 Abnormality of the coagulation cascade Phenotypic_abnormality 3 HP:0003258 HP:0003258 Glyoxalase deficiency Phenotypic_abnormality 3 HP:0003265 HP:0003265 Neonatal hyperbilirubinemia Phenotypic_abnormality 3 HP:0003270 HP:0003270 Abdominal distention Phenotypic_abnormality 3 HP:0003271 HP:0003271 Visceromegaly Phenotypic_abnormality 3 HP:0003295 HP:0003295 Impaired FSH and LH secretion Phenotypic_abnormality 3 HP:0003326 HP:0003326 Myalgia Phenotypic_abnormality 3 HP:0003330 HP:0003330 Abnormal bone structure Phenotypic_abnormality 3 HP:0003335 HP:0003335 Low gonadotropins (secondary hypogonadism) Phenotypic_abnormality 3 HP:0003338 HP:0003338 Focal necrosis of right ventricular muscle cells Phenotypic_abnormality 3 HP:0003351 HP:0003351 Decreased circulating renin level Phenotypic_abnormality 3 HP:0003363 HP:0003363 Abdominal situs inversus Phenotypic_abnormality 3 HP:0003388 HP:0003388 Easy fatigability Phenotypic_abnormality 3 HP:0003394 HP:0003394 Muscle cramps Phenotypic_abnormality 3 HP:0003456 HP:0003456 Low urinary cyclic AMP response to PTH administration Phenotypic_abnormality 3 HP:0003457 HP:0003457 EMG abnormality Phenotypic_abnormality 3 HP:0003472 HP:0003472 Hypocalcemic tetany Phenotypic_abnormality 3 HP:0003492 HP:0003492 High urinary gonadotropins (primary hypogonadism) Phenotypic_abnormality 3 HP:0003528 HP:0003528 Elevated calcitonin Phenotypic_abnormality 3 HP:0003536 HP:0003536 Decreased fumarate hydratase activity Phenotypic_abnormality 3 HP:0003548 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria Phenotypic_abnormality 3 HP:0003552 HP:0003552 Muscle stiffness Phenotypic_abnormality 3 HP:0003553 HP:0003553 Cellulitis due to immunodeficiency Phenotypic_abnormality 3 HP:0003559 HP:0003559 Muscle hyperirritability Phenotypic_abnormality 3 HP:0003560 HP:0003560 Muscular dystrophy Phenotypic_abnormality 3 HP:0003573 HP:0003573 Increased total bilirubin Phenotypic_abnormality 3 HP:0003645 HP:0003645 Prolonged partial thromboplastin time Phenotypic_abnormality 3 HP:0003649 HP:0003649 Abnormality of glycoside metabolism Phenotypic_abnormality 3 HP:0003655 HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II Phenotypic_abnormality 3 HP:0003688 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue Phenotypic_abnormality 3 HP:0003712 HP:0003712 Muscle hypertrophy Phenotypic_abnormality 3 HP:0003716 HP:0003716 Generalized muscular appearance from birth Phenotypic_abnormality 3 HP:0003725 HP:0003725 Firm muscles Phenotypic_abnormality 3 HP:0003737 HP:0003737 Mitochondrial myopathy Phenotypic_abnormality 3 HP:0003750 HP:0003750 Increased muscle fatiguability Phenotypic_abnormality 3 HP:0003758 HP:0003758 Reduced subcutaneous adipose tissue Phenotypic_abnormality 3 HP:0003761 HP:0003761 Calcinosis Phenotypic_abnormality 3 HP:0003782 HP:0003782 Eunuchoid habitus Phenotypic_abnormality 3 HP:0003808 HP:0003808 Abnormal muscle tone Phenotypic_abnormality 3 HP:0003809 HP:0003809 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrat Phenotypic_abnormality 3 HP:0012374 HP:0012374 Abnormality of the globe Phenotypic_abnormality 3 HP:0012380 HP:0012380 Reduced carnitine O-palmitoyltransferase activity Phenotypic_abnormality 3 HP:0012400 HP:0012400 Abnormal aldolase level Phenotypic_abnormality 3 HP:0012415 HP:0012415 Abnormal blood gas level Phenotypic_abnormality 3 HP:0012420 HP:0012420 Meconium stained amniotic fluid Phenotypic_abnormality 3 HP:0012447 HP:0012447 Abnormal myelination Phenotypic_abnormality 3 HP:0012490 HP:0012490 Panniculitis Phenotypic_abnormality 3 HP:0012498 HP:0012498 Nuchal cord Phenotypic_abnormality 3 HP:0012503 HP:0012503 Abnormality of the pituitary gland Phenotypic_abnormality 3 HP:0012509 HP:0012509 Reduced thyroxin-binding globulin Phenotypic_abnormality 3 HP:0012517 HP:0012517 Reduced catalase activity Phenotypic_abnormality 3 HP:0012531 HP:0012531 Pain Phenotypic_abnormality 3 HP:0012541 HP:0012541 Cephalohematoma Phenotypic_abnormality 3 HP:0012546 HP:0012546 Skewed maternal X inactivation Phenotypic_abnormality 3 HP:0012548 HP:0012548 Skeletal muscle fatty infiltration Phenotypic_abnormality 3 HP:0012632 HP:0012632 Abnormal intraocular pressure Phenotypic_abnormality 3 HP:0012640 HP:0012640 Abnormality of intracranial pressure Phenotypic_abnormality 3 HP:0012647 HP:0012647 Abnormal inflammatory response Phenotypic_abnormality 3 HP:0012657 HP:0012657 Abnormal brain positron emission tomography Phenotypic_abnormality 3 HP:0012681 HP:0012681 Abnormality of pineal morphology Phenotypic_abnormality 3 HP:0012688 HP:0012688 Abnormality of pineal physiology Phenotypic_abnormality 3 HP:0012705 HP:0012705 Abnormal metabolic brain imaging by MRS Phenotypic_abnormality 3 HP:0012735 HP:0012735 Cough Phenotypic_abnormality 3 HP:0012757 HP:0012757 Abnormal neuron morphology Phenotypic_abnormality 3 HP:0012759 HP:0012759 Neurodevelopmental abnormality Phenotypic_abnormality 3 HP:0012772 HP:0012772 Abnormal upper to lower segment ratio Phenotypic_abnormality 3 HP:0100000 HP:0100000 Early onset of sexual maturation Phenotypic_abnormality 3 HP:0100001 HP:0100001 Malignant mesothelioma Phenotypic_abnormality 3 HP:0100003 HP:0100003 Peritoneal mesothelioma Phenotypic_abnormality 3 HP:0100012 HP:0100012 Neoplasm of the eye Phenotypic_abnormality 3 HP:0100022 HP:0100022 Abnormality of movement Phenotypic_abnormality 3 HP:0100026 HP:0100026 Arteriovenous malformation Phenotypic_abnormality 3 HP:0100242 HP:0100242 Sarcoma Phenotypic_abnormality 3 HP:0100249 HP:0100249 Calcification of muscles Phenotypic_abnormality 3 HP:0100261 HP:0100261 Abnormal tendon morphology Phenotypic_abnormality 3 HP:0100292 HP:0100292 Amyloidosis of peripheral nerves Phenotypic_abnormality 3 HP:0100326 HP:0100326 Immunologic hypersensitivity Phenotypic_abnormality 3 HP:0100493 HP:0100493 Hypoammonemia Phenotypic_abnormality 3 HP:0100509 HP:0100509 Abnormality of vitamin C metabolism Phenotypic_abnormality 3 HP:0100511 HP:0100511 Abnormality of vitamin D metabolism Phenotypic_abnormality 3 HP:0100514 HP:0100514 Abnormality of vitamin E metabolism Phenotypic_abnormality 3 HP:0100521 HP:0100521 Neoplasm of the thymus Phenotypic_abnormality 3 HP:0100529 HP:0100529 Abnormality of phosphate homeostasis Phenotypic_abnormality 3 HP:0100533 HP:0100533 Inflammatory abnormality of the eye Phenotypic_abnormality 3 HP:0100537 HP:0100537 Fasciitis Phenotypic_abnormality 3 HP:0100544 HP:0100544 Neoplasm of the heart Phenotypic_abnormality 3 HP:0100548 HP:0100548 Exstrophy Phenotypic_abnormality 3 HP:0100556 HP:0100556 Hemiatrophy Phenotypic_abnormality 3 HP:0100559 HP:0100559 Lower limb asymmetry Phenotypic_abnormality 3 HP:0100560 HP:0100560 Upper limb asymmetry Phenotypic_abnormality 3 HP:0100590 HP:0100590 Rectal fistula Phenotypic_abnormality 3 HP:0100593 HP:0100593 Calcification of cartilage Phenotypic_abnormality 3 HP:0100603 HP:0100603 Toxemia of pregnancy Phenotypic_abnormality 3 HP:0100604 HP:0100604 Neoplasm of the lip Phenotypic_abnormality 3 HP:0100606 HP:0100606 Neoplasm of the respiratory system Phenotypic_abnormality 3 HP:0100610 HP:0100610 Maternal hyperphenylalaninemia Phenotypic_abnormality 3 HP:0100614 HP:0100614 Myositis Phenotypic_abnormality 3 HP:0100622 HP:0100622 Maternal seizures Phenotypic_abnormality 3 HP:0100649 HP:0100649 Neoplasm of the oral cavity Phenotypic_abnormality 3 HP:0100659 HP:0100659 Abnormality of the cerebral vasculature Phenotypic_abnormality 3 HP:0100686 HP:0100686 Enthesitis Phenotypic_abnormality 3 HP:0100687 HP:0100687 Polyotia Phenotypic_abnormality 3 HP:0100724 HP:0100724 Hypercoagulability Phenotypic_abnormality 3 HP:0100742 HP:0100742 Vascular neoplasm Phenotypic_abnormality 3 HP:0100748 HP:0100748 Muscular edema Phenotypic_abnormality 3 HP:0100764 HP:0100764 Lymphangioma Phenotypic_abnormality 3 HP:0100765 HP:0100765 Abnormality of the tonsils Phenotypic_abnormality 3 HP:0100766 HP:0100766 Abnormality of the lymphatic vessels Phenotypic_abnormality 3 HP:0100767 HP:0100767 Abnormality of the placenta Phenotypic_abnormality 3 HP:0100774 HP:0100774 Hyperostosis Phenotypic_abnormality 3 HP:0100783 HP:0100783 Breast aplasia Phenotypic_abnormality 3 HP:0100799 HP:0100799 Neoplasm of the middle ear Phenotypic_abnormality 3 HP:0100806 HP:0100806 Sepsis Phenotypic_abnormality 3 HP:0100823 HP:0100823 Genital hernia Phenotypic_abnormality 3 HP:0100826 HP:0100826 Neoplasm of the nail Phenotypic_abnormality 3 HP:0100831 HP:0100831 Abnormality of vitamin K metabolism Phenotypic_abnormality 3 HP:0200013 HP:0200013 Neoplasm of fatty tissue Phenotypic_abnormality 3 HP:0200056 HP:0200056 Macular scarring Phenotypic_abnormality 3 HP:0200126 HP:0200126 Amyolid cardiomyopathy Phenotypic_abnormality 3 HP:0200146 HP:0200146 Cystic medial necrosis of the aorta Phenotypic_abnormality 3 HP:0200151 HP:0200151 Cutaneous mastocytosis Phenotypic_abnormality 3 HP:0012375 HP:0012375 Chemosis Phenotypic_abnormality 4 HP:0012378 HP:0012378 Fatigue Phenotypic_abnormality 4 HP:0012381 HP:0012381 Delayed self-feeding during toddler years Phenotypic_abnormality 4 HP:0012382 HP:0012382 Left-to-right shunt Phenotypic_abnormality 4 HP:0012383 HP:0012383 Bidirectional shunt Phenotypic_abnormality 4 HP:0012393 HP:0012393 Allergy Phenotypic_abnormality 4 HP:0012398 HP:0012398 Peripheral edema Phenotypic_abnormality 4 HP:0012412 HP:0012412 Premature adrenarche Phenotypic_abnormality 4 HP:0012416 HP:0012416 Hypercapnia Phenotypic_abnormality 4 HP:0012417 HP:0012417 Hypocapnia Phenotypic_abnormality 4 HP:0012418 HP:0012418 Hypoxemia Phenotypic_abnormality 4 HP:0012419 HP:0012419 Hyperoxemia Phenotypic_abnormality 4 HP:0012433 HP:0012433 Abnormal social behavior Phenotypic_abnormality 4 HP:0012443 HP:0012443 Abnormality of brain morphology Phenotypic_abnormality 4 HP:0012448 HP:0012448 Delayed myelination Phenotypic_abnormality 4 HP:0012450 HP:0012450 Chronic constipation Phenotypic_abnormality 4 HP:0012451 HP:0012451 Acute constipation Phenotypic_abnormality 4 HP:0012459 HP:0012459 Hypnic headache Phenotypic_abnormality 4 HP:0012468 HP:0012468 Chronic acidosis Phenotypic_abnormality 4 HP:0012485 HP:0012485 Abnormal surface-connected open canalicular system Phenotypic_abnormality 4 HP:0012491 HP:0012491 Abnormal dense tubular system Phenotypic_abnormality 4 HP:0012504 HP:0012504 Abnormal size of pituitary gland Phenotypic_abnormality 4 HP:0012508 HP:0012508 Metamorphopsia Phenotypic_abnormality 4 HP:0012513 HP:0012513 Upper limb pain Phenotypic_abnormality 4 HP:0012514 HP:0012514 Lower limb pain Phenotypic_abnormality 4 HP:0012524 HP:0012524 Abnormal platelet shape Phenotypic_abnormality 4 HP:0012532 HP:0012532 Chronic pain Phenotypic_abnormality 4 HP:0012533 HP:0012533 Allodynia Phenotypic_abnormality 4 HP:0012535 HP:0012535 Abnormal synaptic transmission Phenotypic_abnormality 4 HP:0012536 HP:0012536 Maternal anticardiolipin antibody positive Phenotypic_abnormality 4 HP:0012538 HP:0012538 Gluten intolerance Phenotypic_abnormality 4 HP:0012544 HP:0012544 Elevated aldolase level Phenotypic_abnormality 4 HP:0012545 HP:0012545 Reduced aldolase level Phenotypic_abnormality 4 HP:0012547 HP:0012547 Abnormal involuntary eye movements Phenotypic_abnormality 4 HP:0012549 HP:0012549 Conjunctival lipoma Phenotypic_abnormality 4 HP:0012556 HP:0012556 Hyperbetaalaninemia Phenotypic_abnormality 4 HP:0012558 HP:0012558 Abnormal T3/T4 ratio Phenotypic_abnormality 4 HP:0012569 HP:0012569 Delayed menarche Phenotypic_abnormality 4 HP:0012570 HP:0012570 Synovial sarcoma Phenotypic_abnormality 4 HP:0012621 HP:0012621 Persistent cloaca Phenotypic_abnormality 4 HP:0012628 HP:0012628 Abnormality of the suspensory ligament of lens Phenotypic_abnormality 4 HP:0012633 HP:0012633 Asymmetry of intraocular pressure Phenotypic_abnormality 4 HP:0012641 HP:0012641 Decreased intracranial pressure Phenotypic_abnormality 4 HP:0012645 HP:0012645 Enlarged peripheral nerve Phenotypic_abnormality 4 HP:0012648 HP:0012648 Decreased inflammatory response Phenotypic_abnormality 4 HP:0012649 HP:0012649 Increased inflammatory response Phenotypic_abnormality 4 HP:0012658 HP:0012658 Abnormal brain FDG positron emission tomography Phenotypic_abnormality 4 HP:0012664 HP:0012664 Reduced ejection fraction Phenotypic_abnormality 4 HP:0012667 HP:0012667 Regional left ventricular wall motion abnormality Phenotypic_abnormality 4 HP:0012668 HP:0012668 Vasovagal syncope Phenotypic_abnormality 4 HP:0012669 HP:0012669 Carotid sinus syncope Phenotypic_abnormality 4 HP:0012670 HP:0012670 Orthostatic syncope Phenotypic_abnormality 4 HP:0012682 HP:0012682 Pineal gland calcification Phenotypic_abnormality 4 HP:0012683 HP:0012683 Pineal cyst Phenotypic_abnormality 4 HP:0012684 HP:0012684 Abnormal pineal volume Phenotypic_abnormality 4 HP:0012687 HP:0012687 Agenesis of pineal gland Phenotypic_abnormality 4 HP:0012689 HP:0012689 Abnormal pineal melatonin secretion Phenotypic_abnormality 4 HP:0012703 HP:0012703 Abnormality of the subarachnoid space Phenotypic_abnormality 4 HP:0012706 HP:0012706 Elevated brain choline level by MRS Phenotypic_abnormality 4 HP:0012707 HP:0012707 Elevated brain lactate level by MRS Phenotypic_abnormality 4 HP:0012708 HP:0012708 Reduced brain N-acetyl aspartate level by MRS Phenotypic_abnormality 4 HP:0012709 HP:0012709 Abnormal brain choline/creatine ratio by MRS Phenotypic_abnormality 4 HP:0012710 HP:0012710 Ingrown nail Phenotypic_abnormality 4 HP:0012712 HP:0012712 Mild hearing impairment Phenotypic_abnormality 4 HP:0012713 HP:0012713 Moderate hearing impairment Phenotypic_abnormality 4 HP:0012714 HP:0012714 Severe hearing impairment Phenotypic_abnormality 4 HP:0012715 HP:0012715 Profound hearing impairment Phenotypic_abnormality 4 HP:0012718 HP:0012718 Morphological abnormality of the gastrointestinal tract Phenotypic_abnormality 4 HP:0012719 HP:0012719 Functional abnormality of the gastrointestinal tract Phenotypic_abnormality 4 HP:0012721 HP:0012721 Venous malformation Phenotypic_abnormality 4 HP:0012722 HP:0012722 Heart block Phenotypic_abnormality 4 HP:0012733 HP:0012733 Macule Phenotypic_abnormality 4 HP:0012740 HP:0012740 Papilloma Phenotypic_abnormality 4 HP:0012758 HP:0012758 Neurodevelopmental delay Phenotypic_abnormality 4 HP:0012767 HP:0012767 Abnormal placental size Phenotypic_abnormality 4 HP:0012773 HP:0012773 Reduced upper to lower segment ratio Phenotypic_abnormality 4 HP:0012774 HP:0012774 Increased upper to lower segment ratio Phenotypic_abnormality 4 HP:0012777 HP:0012777 Retinal neoplasm Phenotypic_abnormality 4 HP:0012779 HP:0012779 Transient hearing impairment Phenotypic_abnormality 4 HP:0012781 HP:0012781 Mid-frequency hearing loss Phenotypic_abnormality 4 HP:0012797 HP:0012797 Lymphatic vessel neoplasm Phenotypic_abnormality 4 HP:0012803 HP:0012803 Anisometropia Phenotypic_abnormality 4 HP:0012813 HP:0012813 Unilateral breast hypoplasia Phenotypic_abnormality 4 HP:0012814 HP:0012814 Bilateral breast hypoplasia Phenotypic_abnormality 4 HP:0100002 HP:0100002 Pleural mesothelioma Phenotypic_abnormality 4 HP:0100004 HP:0100004 Pericardial mesothelioma Phenotypic_abnormality 4 HP:0100005 HP:0100005 Testicular mesothelioma Phenotypic_abnormality 4 HP:0100006 HP:0100006 Neoplasm of the central nervous system Phenotypic_abnormality 4 HP:0100007 HP:0100007 Neoplasm of the peripheral nervous system Phenotypic_abnormality 4 HP:0100011 HP:0100011 Scleral schwannoma Phenotypic_abnormality 4 HP:0100021 HP:0100021 Cerebral palsy Phenotypic_abnormality 4 HP:0100031 HP:0100031 Neoplasm of the thyroid gland Phenotypic_abnormality 4 HP:0100033 HP:0100033 Tics Phenotypic_abnormality 4 HP:0100037 HP:0100037 Abnormality of the scalp hair Phenotypic_abnormality 4 HP:0100241 HP:0100241 Ectopic respiratory mucosa Phenotypic_abnormality 4 HP:0100243 HP:0100243 Leiomyosarcoma Phenotypic_abnormality 4 HP:0100244 HP:0100244 Fibrosarcoma Phenotypic_abnormality 4 HP:0100246 HP:0100246 Osteoma Phenotypic_abnormality 4 HP:0100247 HP:0100247 Recurrent singultus Phenotypic_abnormality 4 HP:0100252 HP:0100252 Diaphyseal dysplasia Phenotypic_abnormality 4 HP:0100253 HP:0100253 Abnormality of the medullary cavity of the long bones Phenotypic_abnormality 4 HP:0100255 HP:0100255 Metaphyseal dysplasia Phenotypic_abnormality 4 HP:0100272 HP:0100272 Branchial sinus Phenotypic_abnormality 4 HP:0100274 HP:0100274 Gustatory lacrimation Phenotypic_abnormality 4 HP:0100276 HP:0100276 Skin pits Phenotypic_abnormality 4 HP:0100277 HP:0100277 Periauricular skin pits Phenotypic_abnormality 4 HP:0100283 HP:0100283 EMG: continuous motor unit activity at rest Phenotypic_abnormality 4 HP:0100284 HP:0100284 EMG: myotonic discharges Phenotypic_abnormality 4 HP:0100285 HP:0100285 EMG: impaired neuromuscular transmission Phenotypic_abnormality 4 HP:0100287 HP:0100287 EMG: slow motor conduction Phenotypic_abnormality 4 HP:0100288 HP:0100288 EMG: myokymic discharges Phenotypic_abnormality 4 HP:0100293 HP:0100293 Muscle fiber hypertrophy Phenotypic_abnormality 4 HP:0100295 HP:0100295 Muscle fiber atrophy Phenotypic_abnormality 4 HP:0100296 HP:0100296 Perifascicular muscle fiber atrophy Phenotypic_abnormality 4 HP:0100297 HP:0100297 Increased endomysial connective tissue Phenotypic_abnormality 4 HP:0100298 HP:0100298 Motheaten muscle fibers Phenotypic_abnormality 4 HP:0100299 HP:0100299 Muscle fiber inclusion bodies Phenotypic_abnormality 4 HP:0100305 HP:0100305 Ring fibers Phenotypic_abnormality 4 HP:0100323 HP:0100323 Juvenile aseptic necrosis Phenotypic_abnormality 4 HP:0100491 HP:0100491 Abnormality of the joints of the lower limbs Phenotypic_abnormality 4 HP:0100496 HP:0100496 Abnormality of the vitamin B3 metabolism Phenotypic_abnormality 4 HP:0100503 HP:0100503 Vitamin B1 deficiency Phenotypic_abnormality 4 HP:0100504 HP:0100504 Vitamin B2 deficiency Phenotypic_abnormality 4 HP:0100505 HP:0100505 Vitamin B5 deficiency Phenotypic_abnormality 4 HP:0100506 HP:0100506 Vitamin B8 deficiency Phenotypic_abnormality 4 HP:0100510 HP:0100510 Vitamin C deficiency Phenotypic_abnormality 4 HP:0100512 HP:0100512 Vitamin D deficiency Phenotypic_abnormality 4 HP:0100513 HP:0100513 Vitamin E deficiency Phenotypic_abnormality 4 HP:0100523 HP:0100523 Liver abscess Phenotypic_abnormality 4 HP:0100526 HP:0100526 Neoplasm of the lungs Phenotypic_abnormality 4 HP:0100527 HP:0100527 Neoplasia of the pleura Phenotypic_abnormality 4 HP:0100532 HP:0100532 Scleritis Phenotypic_abnormality 4 HP:0100534 HP:0100534 Episcleritis Phenotypic_abnormality 4 HP:0100543 HP:0100543 Cognitive impairment Phenotypic_abnormality 4 HP:0100550 HP:0100550 Tendon rupture Phenotypic_abnormality 4 HP:0100570 HP:0100570 Carcinoid Phenotypic_abnormality 4 HP:0100578 HP:0100578 Lipoatrophy Phenotypic_abnormality 4 HP:0100584 HP:0100584 Endocarditis Phenotypic_abnormality 4 HP:0100592 HP:0100592 Peritoneal abscess Phenotypic_abnormality 4 HP:0100598 HP:0100598 Pulmonary edema Phenotypic_abnormality 4 HP:0100601 HP:0100601 Eclampsia Phenotypic_abnormality 4 HP:0100602 HP:0100602 Preeclampsia Phenotypic_abnormality 4 HP:0100605 HP:0100605 Neoplasm of the larynx Phenotypic_abnormality 4 HP:0100630 HP:0100630 Neoplasia of the nasopharynx Phenotypic_abnormality 4 HP:0100631 HP:0100631 Neoplasm of the adrenal gland Phenotypic_abnormality 4 HP:0100634 HP:0100634 Neuroendocrine neoplasm Phenotypic_abnormality 4 HP:0100643 HP:0100643 Abnormality of nail color Phenotypic_abnormality 4 HP:0100646 HP:0100646 Thyroiditis Phenotypic_abnormality 4 HP:0100656 HP:0100656 Thoracoabdominal wall defects Phenotypic_abnormality 4 HP:0100660 HP:0100660 Dyskinesia Phenotypic_abnormality 4 HP:0100662 HP:0100662 Chondritis Phenotypic_abnormality 4 HP:0100663 HP:0100663 Synotia Phenotypic_abnormality 4 HP:0100665 HP:0100665 Angioedema Phenotypic_abnormality 4 HP:0100671 HP:0100671 Abnormal trabecular bone morphology Phenotypic_abnormality 4 HP:0100672 HP:0100672 Vaginal hernia Phenotypic_abnormality 4 HP:0100695 HP:0100695 Lipedema Phenotypic_abnormality 4 HP:0100697 HP:0100697 Neurofibrosarcoma Phenotypic_abnormality 4 HP:0100705 HP:0100705 Abnormality of the glial cells Phenotypic_abnormality 4 HP:0100719 HP:0100719 Lens coloboma Phenotypic_abnormality 4 HP:0100720 HP:0100720 Hypoplasia of the ear cartilage Phenotypic_abnormality 4 HP:0100726 HP:0100726 Kaposi's sarcoma Phenotypic_abnormality 4 HP:0100730 HP:0100730 Bronchogenic cyst Phenotypic_abnormality 4 HP:0100733 HP:0100733 Neoplasm of the parathyroid gland Phenotypic_abnormality 4 HP:0100735 HP:0100735 Hypertensive crisis Phenotypic_abnormality 4 HP:0100738 HP:0100738 Abnormal eating behavior Phenotypic_abnormality 4 HP:0100750 HP:0100750 Atelectasis Phenotypic_abnormality 4 HP:0100751 HP:0100751 Esophageal neoplasm Phenotypic_abnormality 4 HP:0100752 HP:0100752 Abnormal liver lobulation Phenotypic_abnormality 4 HP:0100753 HP:0100753 Schizophrenia Phenotypic_abnormality 4 HP:0100754 HP:0100754 Mania Phenotypic_abnormality 4 HP:0100768 HP:0100768 Choriocarcinoma Phenotypic_abnormality 4 HP:0100773 HP:0100773 Cartilage destruction Phenotypic_abnormality 4 HP:0100777 HP:0100777 Exostoses Phenotypic_abnormality 4 HP:0100778 HP:0100778 Cryoglobulinemia Phenotypic_abnormality 4 HP:0100780 HP:0100780 Conjunctival hamartoma Phenotypic_abnormality 4 HP:0100781 HP:0100781 Abnormality of the sacroiliac joint Phenotypic_abnormality 4 HP:0100803 HP:0100803 Abnormality of the periungual region Phenotypic_abnormality 4 HP:0100809 HP:0100809 Hypersensibility of scalp Phenotypic_abnormality 4 HP:0100817 HP:0100817 Renovascular hypertension Phenotypic_abnormality 4 HP:0100827 HP:0100827 Lymphocytosis Phenotypic_abnormality 4 HP:0100830 HP:0100830 Round ear Phenotypic_abnormality 4 HP:0100832 HP:0100832 Mouches volantes Phenotypic_abnormality 4 HP:0100839 HP:0100839 Hepatic agenesis Phenotypic_abnormality 4 HP:0100845 HP:0100845 Anaphylactic shock Phenotypic_abnormality 4 HP:0100847 HP:0100847 Palmoplantar pustules Phenotypic_abnormality 4 HP:0100851 HP:0100851 Abnormal emotion/affect behavior Phenotypic_abnormality 4 HP:0100854 HP:0100854 Aplasia of the musculature Phenotypic_abnormality 4 HP:0100872 HP:0100872 Abnormality of the plantar skin of foot Phenotypic_abnormality 4 HP:0100882 HP:0100882 Fibrous hamartoma Phenotypic_abnormality 4 HP:0100883 HP:0100883 Chorangioma Phenotypic_abnormality 4 HP:0100886 HP:0100886 Abnormality of globe location Phenotypic_abnormality 4 HP:0100887 HP:0100887 Abnormality of globe size Phenotypic_abnormality 4 HP:0200000 HP:0200000 Dysharmonic bone age Phenotypic_abnormality 4 HP:0200024 HP:0200024 Premature chromatid separation Phenotypic_abnormality 4 HP:0200028 HP:0200028 Pretibial myxedema Phenotypic_abnormality 4 HP:0200029 HP:0200029 Vasculitis in the skin Phenotypic_abnormality 4 HP:0200034 HP:0200034 Papule Phenotypic_abnormality 4 HP:0200035 HP:0200035 Skin plaque Phenotypic_abnormality 4 HP:0200036 HP:0200036 Skin nodule Phenotypic_abnormality 4 HP:0200037 HP:0200037 skin vesicle Phenotypic_abnormality 4 HP:0200040 HP:0200040 Epidermoid cyst Phenotypic_abnormality 4 HP:0200041 HP:0200041 Skin erosion Phenotypic_abnormality 4 HP:0200042 HP:0200042 Skin ulcer Phenotypic_abnormality 4 HP:0200047 HP:0200047 Chondritis of pinna Phenotypic_abnormality 4 HP:0200058 HP:0200058 Angiosarcoma Phenotypic_abnormality 4 HP:0200067 HP:0200067 Recurrent spontaneous abortion Phenotypic_abnormality 4 HP:0200073 HP:0200073 Respiratory insufficiency due to defective ciliary clearance Phenotypic_abnormality 4 HP:0200114 HP:0200114 Metabolic alkalosis Phenotypic_abnormality 4 HP:0200134 HP:0200134 Epileptic encephalopathy Phenotypic_abnormality 4 HP:0200136 HP:0200136 Oral-pharyngeal dysphagia Phenotypic_abnormality 4 HP:0004297 HP:0004297 Abnormality of the biliary system Phenotypic_abnormality 4 HP:0004307 HP:0004307 Abnormal anatomic location of the heart Phenotypic_abnormality 4 HP:0004308 HP:0004308 Ventricular arrhythmia Phenotypic_abnormality 4 HP:0004328 HP:0004328 Abnormality of the anterior segment of the eye Phenotypic_abnormality 4 HP:0004329 HP:0004329 Abnormality of the posterior segment of the eye Phenotypic_abnormality 4 HP:0004332 HP:0004332 Abnormality of lymphocytes Phenotypic_abnormality 4 HP:0004338 HP:0004338 Abnormality of aromatic amino acid family metabolism Phenotypic_abnormality 4 HP:0004339 HP:0004339 Abnormality of sulfur amino acid metabolism Phenotypic_abnormality 4 HP:0004341 HP:0004341 Abnormality of the vitamin B12 metabolism Phenotypic_abnormality 4 HP:0004342 HP:0004342 Abnormality of galactoside metabolism Phenotypic_abnormality 4 HP:0004348 HP:0004348 Abnormality of bone mineral density Phenotypic_abnormality 4 HP:0004368 HP:0004368 Increased purine levels Phenotypic_abnormality 4 HP:0004369 HP:0004369 Decreased purine levels Phenotypic_abnormality 4 HP:0004371 HP:0004371 Abnormality of glycosaminoglycan metabolism Phenotypic_abnormality 4 HP:0004372 HP:0004372 Reduced consciousness/confusion Phenotypic_abnormality 4 HP:0004385 HP:0004385 Protracted diarrhea Phenotypic_abnormality 4 HP:0004390 HP:0004390 Hamartomatous polyps Phenotypic_abnormality 4 HP:0004408 HP:0004408 Abnormality of the sense of smell Phenotypic_abnormality 4 HP:0004414 HP:0004414 Abnormality of the pulmonary artery Phenotypic_abnormality 4 HP:0004418 HP:0004418 Thrombophlebitis Phenotypic_abnormality 4 HP:0004421 HP:0004421 Elevated systolic blood pressure Phenotypic_abnormality 4 HP:0004429 HP:0004429 Recurrent viral infections Phenotypic_abnormality 4 HP:0004437 HP:0004437 Cranial hyperostosis Phenotypic_abnormality 4 HP:0004439 HP:0004439 Craniofacial dysostosis Phenotypic_abnormality 4 HP:0004444 HP:0004444 Spherocytosis Phenotypic_abnormality 4 HP:0004445 HP:0004445 Elliptocytosis Phenotypic_abnormality 4 HP:0004446 HP:0004446 Stomatocytosis Phenotypic_abnormality 4 HP:0004450 HP:0004450 Preauricular skin furrow Phenotypic_abnormality 4 HP:0004451 HP:0004451 Postauricular skin tag Phenotypic_abnormality 4 HP:0004452 HP:0004452 Abnormality of the middle ear ossicles Phenotypic_abnormality 4 HP:0004454 HP:0004454 Abnormal middle ear reflexes Phenotypic_abnormality 4 HP:0004459 HP:0004459 Exostosis of the external auditory canal Phenotypic_abnormality 4 HP:0004493 HP:0004493 Craniofacial hyperostosis Phenotypic_abnormality 4 HP:0004639 HP:0004639 Elevated amniotic fluid alpha-fetoprotein Phenotypic_abnormality 4 HP:0004792 HP:0004792 Rectoperineal fistula Phenotypic_abnormality 4 HP:0004798 HP:0004798 Recurrent infection of the gastrointestinal tract Phenotypic_abnormality 4 HP:0004823 HP:0004823 Anisopoikilocytosis Phenotypic_abnormality 4 HP:0004831 HP:0004831 Recurrent thromboembolism Phenotypic_abnormality 4 HP:0004839 HP:0004839 Pyropoikilocytosis Phenotypic_abnormality 4 HP:0004846 HP:0004846 Prolonged bleeding after surgery Phenotypic_abnormality 4 HP:0004855 HP:0004855 Reduced protein S activity Phenotypic_abnormality 4 HP:0004905 HP:0004905 Vitamin A deficiency Phenotypic_abnormality 4 HP:0004919 HP:0004919 Galactose intolerance Phenotypic_abnormality 4 HP:0004920 HP:0004920 Phenylpyruvic acidemia Phenotypic_abnormality 4 HP:0004931 HP:0004931 Arteriosclerosis of small cerebral arteries Phenotypic_abnormality 4 HP:0004942 HP:0004942 Aortic aneurysm Phenotypic_abnormality 4 HP:0004944 HP:0004944 Cerebral aneurysm Phenotypic_abnormality 4 HP:0004947 HP:0004947 Arteriovenous fistula Phenotypic_abnormality 4 HP:0004972 HP:0004972 Elevated mean arterial pressure Phenotypic_abnormality 4 HP:0005010 HP:0005010 osteomyelitis leading to amputation due to slow healing fractures Phenotypic_abnormality 4 HP:0005100 HP:0005100 premature birth following premature rupture of fetal membranes Phenotypic_abnormality 4 HP:0005101 HP:0005101 High-frequency hearing impairment Phenotypic_abnormality 4 HP:0005109 HP:0005109 Abnormality of the Achilles tendon Phenotypic_abnormality 4 HP:0005114 HP:0005114 Abnormalities of the peripheral arteries Phenotypic_abnormality 4 HP:0005115 HP:0005115 Supraventricular arrhythmia Phenotypic_abnormality 4 HP:0005116 HP:0005116 Arterial tortuosity Phenotypic_abnormality 4 HP:0005117 HP:0005117 Elevated diastolic blood pressure Phenotypic_abnormality 4 HP:0005120 HP:0005120 Abnormality of cardiac atrium Phenotypic_abnormality 4 HP:0005130 HP:0005130 Restrictive heart failure Phenotypic_abnormality 4 HP:0005135 HP:0005135 EKG: T-wave abnormalities Phenotypic_abnormality 4 HP:0005146 HP:0005146 Cardiac valve calcification Phenotypic_abnormality 4 HP:0005150 HP:0005150 Abnormal atrioventricular conduction Phenotypic_abnormality 4 HP:0005165 HP:0005165 Shortened PR interval Phenotypic_abnormality 4 HP:0005177 HP:0005177 Premature arteriosclerosis Phenotypic_abnormality 4 HP:0005187 HP:0005187 Progressive joint destruction Phenotypic_abnormality 4 HP:0005200 HP:0005200 Retroperitoneal fibrosis Phenotypic_abnormality 4 HP:0005208 HP:0005208 Secretory diarrhea Phenotypic_abnormality 4 HP:0005218 HP:0005218 Anoperineal fistula Phenotypic_abnormality 4 HP:0005225 HP:0005225 Intestinal edema Phenotypic_abnormality 4 HP:0005237 HP:0005237 Degenerative liver disease Phenotypic_abnormality 4 HP:0005255 HP:0005255 Absence of pectoralis minor muscle Phenotypic_abnormality 4 HP:0005256 HP:0005256 Unilateral absence of pectoralis major muscle Phenotypic_abnormality 4 HP:0005261 HP:0005261 Joint hemorrhage Phenotypic_abnormality 4 HP:0005262 HP:0005262 Abnormality of the synovia Phenotypic_abnormality 4 HP:0005291 HP:0005291 Inflammatory arteriopathy Phenotypic_abnormality 4 HP:0005293 HP:0005293 Venous insufficiency Phenotypic_abnormality 4 HP:0005294 HP:0005294 Arterial dissection Phenotypic_abnormality 4 HP:0005300 HP:0005300 Nodular inflammatory vasculitis Phenotypic_abnormality 4 HP:0005301 HP:0005301 Persistent left superior vena cava Phenotypic_abnormality 4 HP:0005304 HP:0005304 Hypoplastic pulmonary veins Phenotypic_abnormality 4 HP:0005305 HP:0005305 Cerebral venous thrombosis Phenotypic_abnormality 4 HP:0005310 HP:0005310 Large vessel vasculitis Phenotypic_abnormality 4 HP:0005311 HP:0005311 Agenesis of pulmonary vessels Phenotypic_abnormality 4 HP:0005313 HP:0005313 Arterial fibromuscular dysplasia Phenotypic_abnormality 4 HP:0005316 HP:0005316 Peripheral pulmonary vessel aplasia Phenotypic_abnormality 4 HP:0005317 HP:0005317 Increased pulmonary vascular resistance Phenotypic_abnormality 4 HP:0005318 HP:0005318 Cerebral vasculitis Phenotypic_abnormality 4 HP:0005339 HP:0005339 Abnormality of complement system Phenotypic_abnormality 4 HP:0005344 HP:0005344 Abnormality of the carotid arteries Phenotypic_abnormality 4 HP:0005346 HP:0005346 Abnormal facial expression Phenotypic_abnormality 4 HP:0005348 HP:0005348 Inspiratory stridor Phenotypic_abnormality 4 HP:0005363 HP:0005363 Partial humoral immunodeficiency Phenotypic_abnormality 4 HP:0005374 HP:0005374 Cellular immunodeficiency Phenotypic_abnormality 4 HP:0005386 HP:0005386 Recurrent protozoan infections Phenotypic_abnormality 4 HP:0005387 HP:0005387 Combined immunodeficiency Phenotypic_abnormality 4 HP:0005390 HP:0005390 Recurrent opportunistic infections Phenotypic_abnormality 4 HP:0005437 HP:0005437 Recurrent infections in infancy and early childhood Phenotypic_abnormality 4 HP:0005505 HP:0005505 Refractory anemia Phenotypic_abnormality 4 HP:0005507 HP:0005507 Hemoglobin Barts Phenotypic_abnormality 4 HP:0005510 HP:0005510 Transient erythroblastopenia Phenotypic_abnormality 4 HP:0005513 HP:0005513 Increased megakaryocyte count Phenotypic_abnormality 4 HP:0005520 HP:0005520 Chronic disseminated intravascular coagulation Phenotypic_abnormality 4 HP:0005523 HP:0005523 Lymphoproliferative disorder Phenotypic_abnormality 4 HP:0005527 HP:0005527 Reduced kininogen activity Phenotypic_abnormality 4 HP:0005528 HP:0005528 Bone marrow hypocellularity Phenotypic_abnormality 4 HP:0005537 HP:0005537 Decreased mean platelet volume Phenotypic_abnormality 4 HP:0005540 HP:0005540 Red blood cell keratocytosis Phenotypic_abnormality 4 HP:0005543 HP:0005543 Reduced protein C activity Phenotypic_abnormality 4 HP:0005548 HP:0005548 Megakaryocytopenia Phenotypic_abnormality 4 HP:0005560 HP:0005560 Imbalanced hemoglobin synthesis Phenotypic_abnormality 4 HP:0005607 HP:0005607 Abnormality of the tracheobronchial system Phenotypic_abnormality 4 HP:0005616 HP:0005616 Accelerated skeletal maturation Phenotypic_abnormality 4 HP:0005622 HP:0005622 Broad long bones Phenotypic_abnormality 4 HP:0005661 HP:0005661 Salmonella osteomyelitis Phenotypic_abnormality 4 HP:0005701 HP:0005701 Multiple enchondromatosis Phenotypic_abnormality 4 HP:0005716 HP:0005716 Lethal skeletal dysplasia Phenotypic_abnormality 4 HP:0005775 HP:0005775 Multiple skeletal anomalies Phenotypic_abnormality 4 HP:0005855 HP:0005855 Multiple prenatal fractures Phenotypic_abnormality 4 HP:0005864 HP:0005864 Pseudoarthrosis Phenotypic_abnormality 4 HP:0005901 HP:0005901 Chronic recurrent multifocal osteomyelitis Phenotypic_abnormality 4 HP:0005930 HP:0005930 Abnormality of the epiphyses Phenotypic_abnormality 4 HP:0005938 HP:0005938 Abnormal respiratory motile cilium morphology Phenotypic_abnormality 4 HP:0005947 HP:0005947 Decreased sensitivity to hypoxemia Phenotypic_abnormality 4 HP:0005948 HP:0005948 Cystic lung disease Phenotypic_abnormality 4 HP:0005954 HP:0005954 Pulmonary capillary hemangiomatosis Phenotypic_abnormality 4 HP:0005959 HP:0005959 Impaired gluconeogenesis Phenotypic_abnormality 4 HP:0005964 HP:0005964 Intermittent hypothermia Phenotypic_abnormality 4 HP:0005972 HP:0005972 Respiratory acidosis Phenotypic_abnormality 4 HP:0005973 HP:0005973 Fructose intolerance Phenotypic_abnormality 4 HP:0005977 HP:0005977 Hypochloremic metabolic alkalosis Phenotypic_abnormality 4 HP:0005984 HP:0005984 Elevated maternal serum alpha-fetoprotein Phenotypic_abnormality 4 HP:0005988 HP:0005988 Congenital muscular torticollis Phenotypic_abnormality 4 HP:0005991 HP:0005991 Limited neck flexion Phenotypic_abnormality 4 HP:0005995 HP:0005995 Decreased adipose tissue around neck Phenotypic_abnormality 4 HP:0005997 HP:0005997 Restricted neck movement due to contractures Phenotypic_abnormality 4 HP:0006298 HP:0006298 Prolonged bleeding after dental extraction Phenotypic_abnormality 4 HP:0006367 HP:0006367 Crumpled long bones Phenotypic_abnormality 4 HP:0006391 HP:0006391 Overtubulated long bones Phenotypic_abnormality 4 HP:0006392 HP:0006392 Increased density of long bones Phenotypic_abnormality 4 HP:0006465 HP:0006465 Periosteal thickening of long tubular bones Phenotypic_abnormality 4 HP:0006487 HP:0006487 Bowing of the long bones Phenotypic_abnormality 4 HP:0006516 HP:0006516 Hypersensitivity pneumonitis Phenotypic_abnormality 4 HP:0006517 HP:0006517 Alveolar proteinosis Phenotypic_abnormality 4 HP:0006518 HP:0006518 Pulmonary venoocclusive disease Phenotypic_abnormality 4 HP:0006520 HP:0006520 Progressive pulmonary function impairment Phenotypic_abnormality 4 HP:0006525 HP:0006525 Lung segmentation defects Phenotypic_abnormality 4 HP:0006528 HP:0006528 Chronic lung disease Phenotypic_abnormality 4 HP:0006530 HP:0006530 Interstitial pulmonary disease Phenotypic_abnormality 4 HP:0006535 HP:0006535 Recurrent intrapulmonary hemorrhage Phenotypic_abnormality 4 HP:0006536 HP:0006536 Obstructive lung disease Phenotypic_abnormality 4 HP:0006548 HP:0006548 Pulmonary arteriovenous malformation Phenotypic_abnormality 4 HP:0006549 HP:0006549 Unilateral primary pulmonary dysgenesis Phenotypic_abnormality 4 HP:0006558 HP:0006558 Decreased mitochondrial complex III activity in liver tissue Phenotypic_abnormality 4 HP:0006561 HP:0006561 Lipid accumulation in hepatocytes Phenotypic_abnormality 4 HP:0006568 HP:0006568 Increased hepatic glycogen content Phenotypic_abnormality 4 HP:0006574 HP:0006574 Hepatic arteriovenous malformation Phenotypic_abnormality 4 HP:0006581 HP:0006581 Depletion of mitochondrial DNA in liver Phenotypic_abnormality 4 HP:0006582 HP:0006582 Reye syndrome-like episodes Phenotypic_abnormality 4 HP:0006673 HP:0006673 Reduced systolic function Phenotypic_abnormality 4 HP:0006677 HP:0006677 Prolonged QRS complex Phenotypic_abnormality 4 HP:0006685 HP:0006685 Endocardial fibrosis Phenotypic_abnormality 4 HP:0006690 HP:0006690 Myocardial calcification Phenotypic_abnormality 4 HP:0006698 HP:0006698 Ventricular aneurysm Phenotypic_abnormality 4 HP:0006703 HP:0006703 Aplasia/Hypoplasia of the lungs Phenotypic_abnormality 4 HP:0006704 HP:0006704 Abnormality of the coronary arteries Phenotypic_abnormality 4 HP:0006705 HP:0006705 Abnormality of the atrioventricular valves Phenotypic_abnormality 4 HP:0006706 HP:0006706 Cystic liver disease Phenotypic_abnormality 4 HP:0006707 HP:0006707 Abnormality of the hepatic vasculature Phenotypic_abnormality 4 HP:0006743 HP:0006743 Embryonal rhabdomyosarcoma Phenotypic_abnormality 4 HP:0006755 HP:0006755 Cutaneous leiomyosarcoma Phenotypic_abnormality 4 HP:0006758 HP:0006758 Malignant genitourinary tract tumor Phenotypic_abnormality 4 HP:0006765 HP:0006765 Chondrosarcoma Phenotypic_abnormality 4 HP:0006769 HP:0006769 Myxoid subcutaneous tumors Phenotypic_abnormality 4 HP:0006773 HP:0006773 Cutaneous angiolipomas Phenotypic_abnormality 4 HP:0006775 HP:0006775 Multiple myeloma Phenotypic_abnormality 4 HP:0006778 HP:0006778 Benign genitourinary tract neoplasm Phenotypic_abnormality 4 HP:0006782 HP:0006782 Malignant eosinophil proliferation Phenotypic_abnormality 4 HP:0006783 HP:0006783 Posterior pharyngeal cleft Phenotypic_abnormality 4 HP:0006789 HP:0006789 Mitochondrial encephalopathy Phenotypic_abnormality 4 HP:0006802 HP:0006802 Abnormality of the anterior horn cell Phenotypic_abnormality 4 HP:0006846 HP:0006846 Acute encephalopathy Phenotypic_abnormality 4 HP:0006921 HP:0006921 Axial muscle stiffness Phenotypic_abnormality 4 HP:0006929 HP:0006929 Hypoglycemic encephalopathy Phenotypic_abnormality 4 HP:0006958 HP:0006958 Abnormal auditory evoked potentials Phenotypic_abnormality 4 HP:0006976 HP:0006976 Necrotizing encephalopathy Phenotypic_abnormality 4 HP:0007024 HP:0007024 Pseudobulbar paralysis Phenotypic_abnormality 4 HP:0007030 HP:0007030 Nonprogressive encephalopathy Phenotypic_abnormality 4 HP:0007066 HP:0007066 Proximal limb muscle stiffness Phenotypic_abnormality 4 HP:0007081 HP:0007081 Late-onset muscular dystrophy Phenotypic_abnormality 4 HP:0007105 HP:0007105 Infantile encephalopathy Phenotypic_abnormality 4 HP:0007126 HP:0007126 Proximal amyotrophy Phenotypic_abnormality 4 HP:0007156 HP:0007156 Asymmetric limb muscle stiffness Phenotypic_abnormality 4 HP:0007210 HP:0007210 Lower limb amyotrophy Phenotypic_abnormality 4 HP:0007239 HP:0007239 Congenital encephalopathy Phenotypic_abnormality 4 HP:0007256 HP:0007256 Abnormality of pyramidal motor function Phenotypic_abnormality 4 HP:0007269 HP:0007269 Spinal muscular atrophy Phenotypic_abnormality 4 HP:0007281 HP:0007281 Developmental stagnation Phenotypic_abnormality 4 HP:0007335 HP:0007335 Recurrent encephalopathy Phenotypic_abnormality 4 HP:0007359 HP:0007359 Focal seizures Phenotypic_abnormality 4 HP:0007367 HP:0007367 Atrophy/Degeneration affecting the central nervous system Phenotypic_abnormality 4 HP:0007377 HP:0007377 Abnormality of somatosensory evoked potentials Phenotypic_abnormality 4 HP:0007409 HP:0007409 Absence of subcutaneous fat over entire body except buttocks, hips, and thighs Phenotypic_abnormality 4 HP:0007430 HP:0007430 Generalized edema Phenotypic_abnormality 4 HP:0007437 HP:0007437 Multiple cutaneous leiomyomas Phenotypic_abnormality 4 HP:0007446 HP:0007446 Palmoplantar blistering Phenotypic_abnormality 4 HP:0007448 HP:0007448 Hyperkeratosis over edematous areas Phenotypic_abnormality 4 HP:0007451 HP:0007451 Ipsilateral lack of facial sweating Phenotypic_abnormality 4 HP:0007459 HP:0007459 Generalized anhidrosis Phenotypic_abnormality 4 HP:0007462 HP:0007462 Bitot spots of the conjunctiva Phenotypic_abnormality 4 HP:0007477 HP:0007477 Abnormal dermatoglyphics Phenotypic_abnormality 4 HP:0007482 HP:0007482 Generalized papillary lesions Phenotypic_abnormality 4 HP:0007485 HP:0007485 Absence of subcutaneous fat Phenotypic_abnormality 4 HP:0007495 HP:0007495 Prematurely aged appearance Phenotypic_abnormality 4 HP:0007500 HP:0007500 Decreased number of sweat glands Phenotypic_abnormality 4 HP:0007514 HP:0007514 Edema of the dorsum of hands Phenotypic_abnormality 4 HP:0007541 HP:0007541 Frontal cutaneous lipoma Phenotypic_abnormality 4 HP:0007549 HP:0007549 Desquamation of skin soon after birth Phenotypic_abnormality 4 HP:0007550 HP:0007550 Hypohidrosis/hyperhidrosis Phenotypic_abnormality 4 HP:0007606 HP:0007606 Multiple cutaneous malignancies Phenotypic_abnormality 4 HP:0007609 HP:0007609 Hypoproteinemic edema Phenotypic_abnormality 4 HP:0007620 HP:0007620 Cutaneous leiomyoma Phenotypic_abnormality 4 HP:0007626 HP:0007626 Mandibular osteomyelitis Phenotypic_abnormality 4 HP:0007647 HP:0007647 Congenital extraocular muscle anomaly Phenotypic_abnormality 4 HP:0007687 HP:0007687 Unilateral ptosis Phenotypic_abnormality 4 HP:0007716 HP:0007716 Intraocular melanoma Phenotypic_abnormality 4 HP:0007799 HP:0007799 Conjunctival whitish salt-like deposits Phenotypic_abnormality 4 HP:0007838 HP:0007838 Progressive ptosis Phenotypic_abnormality 4 HP:0007886 HP:0007886 Absent extraocular muscles Phenotypic_abnormality 4 HP:0007906 HP:0007906 Increased intraocular pressure Phenotypic_abnormality 4 HP:0007941 HP:0007941 Limited extraocular movements Phenotypic_abnormality 4 HP:0007970 HP:0007970 Congenital ptosis Phenotypic_abnormality 4 HP:0008014 HP:0008014 Central fundal arteriolar microaneurysms Phenotypic_abnormality 4 HP:0008054 HP:0008054 Abnormality of the vasculature of the conjunctiva Phenotypic_abnormality 4 HP:0008056 HP:0008056 Aplasia/Hypoplasia affecting the eye Phenotypic_abnormality 4 HP:0008065 HP:0008065 Aplasia/Hypoplasia of the skin Phenotypic_abnormality 4 HP:0008071 HP:0008071 Maternal hypertension Phenotypic_abnormality 4 HP:0008073 HP:0008073 Low maternal serum estriol Phenotypic_abnormality 4 HP:0008178 HP:0008178 Abnormal cartilage matrix Phenotypic_abnormality 4 HP:0008186 HP:0008186 Adrenocortical cytomegaly Phenotypic_abnormality 4 HP:0008188 HP:0008188 Thyroid dysgenesis Phenotypic_abnormality 4 HP:0008189 HP:0008189 Insulin insensitivity Phenotypic_abnormality 4 HP:0008208 HP:0008208 Parathyroid hyperplasia Phenotypic_abnormality 4 HP:0008216 HP:0008216 Adrenal gland dysgenesis Phenotypic_abnormality 4 HP:0008221 HP:0008221 Adrenal hyperplasia Phenotypic_abnormality 4 HP:0008237 HP:0008237 Hypothalamic hypothyroidism Phenotypic_abnormality 4 HP:0008242 HP:0008242 Pseudohypoaldosteronism Phenotypic_abnormality 4 HP:0008247 HP:0008247 Euthyroid hyperthyroxinemia Phenotypic_abnormality 4 HP:0008249 HP:0008249 Thyroid hyperplasia Phenotypic_abnormality 4 HP:0008261 HP:0008261 Pancreatic islet cell adenoma Phenotypic_abnormality 4 HP:0008263 HP:0008263 Thyroid defect in oxidation and organification of iodide Phenotypic_abnormality 4 HP:0008271 HP:0008271 Abnormal cartilage collagen Phenotypic_abnormality 4 HP:0008279 HP:0008279 Transient hyperlipidemia Phenotypic_abnormality 4 HP:0008322 HP:0008322 Abnormal mitochondrial morphology Phenotypic_abnormality 4 HP:0008326 HP:0008326 Vitamin B6 deficiency Phenotypic_abnormality 4 HP:0008352 HP:0008352 Impaired platelet adhesion Phenotypic_abnormality 4 HP:0008356 HP:0008356 Combined hyperlipidemia Phenotypic_abnormality 4 HP:0008360 HP:0008360 Neonatal hypoproteinemia Phenotypic_abnormality 4 HP:0008383 HP:0008383 Slow-growing nails Phenotypic_abnormality 4 HP:0008386 HP:0008386 Aplasia/Hypoplasia of the nails Phenotypic_abnormality 4 HP:0008388 HP:0008388 Abnormality of the toenail Phenotypic_abnormality 4 HP:0008390 HP:0008390 Recurrent loss of toenails and fingernails Phenotypic_abnormality 4 HP:0008396 HP:0008396 Chronic monilial nail infection Phenotypic_abnormality 4 HP:0008404 HP:0008404 Nail dystrophy Phenotypic_abnormality 4 HP:0008442 HP:0008442 Vertebral hyperostosis Phenotypic_abnormality 4 HP:0008541 HP:0008541 Superiorly displaced ears Phenotypic_abnormality 4 HP:0008542 HP:0008542 Low-frequency hearing loss Phenotypic_abnormality 4 HP:0008551 HP:0008551 Microtia Phenotypic_abnormality 4 HP:0008629 HP:0008629 Pulsatile tinnitus Phenotypic_abnormality 4 HP:0008647 HP:0008647 Pubertal developmental failure in females Phenotypic_abnormality 4 HP:0008663 HP:0008663 Renal sarcoma Phenotypic_abnormality 4 HP:0008696 HP:0008696 Renal hamartoma Phenotypic_abnormality 4 HP:0008776 HP:0008776 Abnormality of the renal artery Phenotypic_abnormality 4 HP:0008846 HP:0008846 Severe intrauterine growth retardation Phenotypic_abnormality 4 HP:0008850 HP:0008850 Severe postnatal growth retardation Phenotypic_abnormality 4 HP:0008855 HP:0008855 Moderate postnatal growth retardation Phenotypic_abnormality 4 HP:0008866 HP:0008866 Failure to thrive secondary to recurrent infections Phenotypic_abnormality 4 HP:0008872 HP:0008872 Feeding difficulties in infancy Phenotypic_abnormality 4 HP:0008883 HP:0008883 Mild intrauterine growth retardation Phenotypic_abnormality 4 HP:0008887 HP:0008887 Adipose tissue loss Phenotypic_abnormality 4 HP:0008929 HP:0008929 Asymmetric short stature Phenotypic_abnormality 4 HP:0008942 HP:0008942 Acute rhabdomyolysis Phenotypic_abnormality 4 HP:0008953 HP:0008953 Pectoralis major hypoplasia Phenotypic_abnormality 4 HP:0008964 HP:0008964 Nonprogressive muscular atrophy Phenotypic_abnormality 4 HP:0008967 HP:0008967 Exercise-induced muscle stiffness Phenotypic_abnormality 4 HP:0008968 HP:0008968 Muscle hypertrophy of the lower extremities Phenotypic_abnormality 4 HP:0008969 HP:0008969 Leg muscle stiffness Phenotypic_abnormality 4 HP:0008970 HP:0008970 Scapulohumeral muscular dystrophy Phenotypic_abnormality 4 HP:0008978 HP:0008978 Necrotizing myopathy Phenotypic_abnormality 4 HP:0008985 HP:0008985 Increased intramuscular fat Phenotypic_abnormality 4 HP:0008988 HP:0008988 Pelvic girdle muscle atrophy Phenotypic_abnormality 4 HP:0008993 HP:0008993 Increased intraabdominal fat Phenotypic_abnormality 4 HP:0009003 HP:0009003 Increased subcutaneous truncal adipose tissue Phenotypic_abnormality 4 HP:0009004 HP:0009004 Hypoplasia of the musculature Phenotypic_abnormality 4 HP:0009013 HP:0009013 Congenital absence of gluteal muscles Phenotypic_abnormality 4 HP:0009020 HP:0009020 Exercise-induced muscle fatigue Phenotypic_abnormality 4 HP:0009023 HP:0009023 Abdominal wall muscle weakness Phenotypic_abnormality 4 HP:0009042 HP:0009042 Marked muscular hypertrophy Phenotypic_abnormality 4 HP:0009045 HP:0009045 Exercise-induced rhabdomyolysis Phenotypic_abnormality 4 HP:0009046 HP:0009046 Difficulty running Phenotypic_abnormality 4 HP:0009058 HP:0009058 Increased muscle lipid content Phenotypic_abnormality 4 HP:0009059 HP:0009059 Congenital generalized lipodystrophy Phenotypic_abnormality 4 HP:0009064 HP:0009064 Generalized lipodystrophy Phenotypic_abnormality 4 HP:0009069 HP:0009069 Lethal infantile mitochondrial myopathy Phenotypic_abnormality 4 HP:0009071 HP:0009071 Inflammatory myopathy Phenotypic_abnormality 4 HP:0009109 HP:0009109 Denervation of the diaphragm Phenotypic_abnormality 4 HP:0009110 HP:0009110 Diaphragmatic eventration Phenotypic_abnormality 4 HP:0009113 HP:0009113 Diaphragmatic weakness Phenotypic_abnormality 4 HP:0009122 HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton Phenotypic_abnormality 4 HP:0009129 HP:0009129 Upper limb amyotrophy Phenotypic_abnormality 4 HP:0009144 HP:0009144 Supernumerary bones of the axial skeleton Phenotypic_abnormality 4 HP:0009145 HP:0009145 Abnormality of cerebral artery Phenotypic_abnormality 4 HP:0009555 HP:0009555 Hypoplasia of the pharynx Phenotypic_abnormality 4 HP:0009593 HP:0009593 Peripheral Schwannoma Phenotypic_abnormality 4 HP:0009720 HP:0009720 Adenoma sebaceum Phenotypic_abnormality 4 HP:0009723 HP:0009723 Abnormality of the subungual region Phenotypic_abnormality 4 HP:0009729 HP:0009729 Cardiac rhabdomyoma Phenotypic_abnormality 4 HP:0009730 HP:0009730 Rhabdomyoma Phenotypic_abnormality 4 HP:0009731 HP:0009731 Cerebral hamartomata Phenotypic_abnormality 4 HP:0009738 HP:0009738 Abnormality of the antihelix Phenotypic_abnormality 4 HP:0009758 HP:0009758 Pyramidal skinfold extending from the base to the top of the nails Phenotypic_abnormality 4 HP:0009775 HP:0009775 Amniotic constriction ring Phenotypic_abnormality 4 HP:0009786 HP:0009786 Aplasia/Hypoplasia of the musculature of the thigh Phenotypic_abnormality 4 HP:0009792 HP:0009792 Teratoma Phenotypic_abnormality 4 HP:0009795 HP:0009795 Branchial fistula Phenotypic_abnormality 4 HP:0009796 HP:0009796 Branchial cyst Phenotypic_abnormality 4 HP:0009797 HP:0009797 Cholesteatoma Phenotypic_abnormality 4 HP:0009799 HP:0009799 Supernumerary spleens Phenotypic_abnormality 4 HP:0009805 HP:0009805 Low-output congestive heart failure Phenotypic_abnormality 4 HP:0009810 HP:0009810 Abnormality of the joints of the upper limbs Phenotypic_abnormality 4 HP:0009815 HP:0009815 Aplasia/hypoplasia of the extremities Phenotypic_abnormality 4 HP:0009829 HP:0009829 Phocomelia Phenotypic_abnormality 4 HP:0009830 HP:0009830 Peripheral neuropathy Phenotypic_abnormality 4 HP:0009887 HP:0009887 Abnormality of hair pigmentation Phenotypic_abnormality 4 HP:0009888 HP:0009888 Abnormality of secondary sexual hair Phenotypic_abnormality 4 HP:0009892 HP:0009892 Anotia Phenotypic_abnormality 4 HP:0009894 HP:0009894 Thickened ears Phenotypic_abnormality 4 HP:0009896 HP:0009896 Abnormality of the antitragus Phenotypic_abnormality 4 HP:0009900 HP:0009900 Unilateral deafness Phenotypic_abnormality 4 HP:0009901 HP:0009901 Crumpled ear Phenotypic_abnormality 4 HP:0009903 HP:0009903 Conjunctival nodule Phenotypic_abnormality 4 HP:0009912 HP:0009912 Abnormality of the tragus Phenotypic_abnormality 4 HP:0009919 HP:0009919 Retinoblastoma Phenotypic_abnormality 4 HP:0009921 HP:0009921 Duane anomaly Phenotypic_abnormality 4 HP:0009926 HP:0009926 Increased lacrimation Phenotypic_abnormality 4 HP:0010315 HP:0010315 Aplasia/Hypoplasia of the diaphragm Phenotypic_abnormality 4 HP:0010318 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Phenotypic_abnormality 4 HP:0010451 HP:0010451 Aplasia/Hypoplasia of the spleen Phenotypic_abnormality 4 HP:0010452 HP:0010452 Ectopia of the spleen Phenotypic_abnormality 4 HP:0010460 HP:0010460 Abnormality of the female genitalia Phenotypic_abnormality 4 HP:0010461 HP:0010461 Abnormality of the male genitalia Phenotypic_abnormality 4 HP:0010475 HP:0010475 Cloacal exstrophy Phenotypic_abnormality 4 HP:0010515 HP:0010515 Aplasia/Hypoplasia of the thymus Phenotypic_abnormality 4 HP:0010516 HP:0010516 Thymus hyperplasia Phenotypic_abnormality 4 HP:0010517 HP:0010517 Ectopic thymus tissue Phenotypic_abnormality 4 HP:0010518 HP:0010518 Thyroglossal cyst Phenotypic_abnormality 4 HP:0010524 HP:0010524 Agnosia Phenotypic_abnormality 4 HP:0010527 HP:0010527 Astereognosia Phenotypic_abnormality 4 HP:0010529 HP:0010529 Echolalia Phenotypic_abnormality 4 HP:0010541 HP:0010541 Cutis gyrata of scalp Phenotypic_abnormality 4 HP:0010546 HP:0010546 Muscle fibrillation Phenotypic_abnormality 4 HP:0010547 HP:0010547 Muscle flaccidity Phenotypic_abnormality 4 HP:0010548 HP:0010548 Percussion myotonia Phenotypic_abnormality 4 HP:0010569 HP:0010569 Elevated 7-dehydrocholesterol Phenotypic_abnormality 4 HP:0010570 HP:0010570 Low maternal serum alpha-fetoprotein Phenotypic_abnormality 4 HP:0010576 HP:0010576 Intracranial cystic lesion Phenotypic_abnormality 4 HP:0010602 HP:0010602 Type 2 muscle fiber predominance Phenotypic_abnormality 4 HP:0010609 HP:0010609 Skin tags Phenotypic_abnormality 4 HP:0010614 HP:0010614 Fibroma Phenotypic_abnormality 4 HP:0010617 HP:0010617 Cardiac fibroma Phenotypic_abnormality 4 HP:0010619 HP:0010619 Fibroma of the breast Phenotypic_abnormality 4 HP:0010628 HP:0010628 Facial palsy Phenotypic_abnormality 4 HP:0010651 HP:0010651 Abnormality of the meninges Phenotypic_abnormality 4 HP:0010701 HP:0010701 Abnormal immunoglobulin level Phenotypic_abnormality 4 HP:0010719 HP:0010719 Abnormality of hair texture Phenotypic_abnormality 4 HP:0010720 HP:0010720 Abnormal hair pattern Phenotypic_abnormality 4 HP:0010722 HP:0010722 Asymmetry of the ears Phenotypic_abnormality 4 HP:0010723 HP:0010723 Cystic lesions of the pinnae Phenotypic_abnormality 4 HP:0010727 HP:0010727 Spontaneous rupture of the globe Phenotypic_abnormality 4 HP:0010734 HP:0010734 Fibrous dysplasia of the bones Phenotypic_abnormality 4 HP:0010741 HP:0010741 Edema of the lower limbs Phenotypic_abnormality 4 HP:0010742 HP:0010742 Edema of the upper limbs Phenotypic_abnormality 4 HP:0010762 HP:0010762 Chordoma Phenotypic_abnormality 4 HP:0010781 HP:0010781 Skin dimples Phenotypic_abnormality 4 HP:0010786 HP:0010786 Urinary tract neoplasm Phenotypic_abnormality 4 HP:0010799 HP:0010799 Pinealoma Phenotypic_abnormality 4 HP:0010859 HP:0010859 Frank breech presentation Phenotypic_abnormality 4 HP:0010860 HP:0010860 Complete breech presentation Phenotypic_abnormality 4 HP:0010861 HP:0010861 Incomplete breech presentation Phenotypic_abnormality 4 HP:0010865 HP:0010865 Oppositional defiant disorder Phenotypic_abnormality 4 HP:0010874 HP:0010874 Tendon xanthomatosis Phenotypic_abnormality 4 HP:0010878 HP:0010878 Fetal cystic hygroma Phenotypic_abnormality 4 HP:0010879 HP:0010879 Postnatal cystic hygroma Phenotypic_abnormality 4 HP:0010886 HP:0010886 Osteochondrosis dissecans Phenotypic_abnormality 4 HP:0010892 HP:0010892 Abnormality of branched chain family amino acid metabolism Phenotypic_abnormality 4 HP:0010894 HP:0010894 Abnormality of serine family amino acid metabolism Phenotypic_abnormality 4 HP:0010899 HP:0010899 Abnormality of aspartate family amino acid metabolism Phenotypic_abnormality 4 HP:0010902 HP:0010902 Abnormality of glutamine family amino acid metabolism Phenotypic_abnormality 4 HP:0010904 HP:0010904 Abnormality of histidine family amino acid metabolism Phenotypic_abnormality 4 HP:0010915 HP:0010915 Abnormality of pyruvate family amino acid metabolism Phenotypic_abnormality 4 HP:0010927 HP:0010927 Abnormality of divalent inorganic cation homeostasis Phenotypic_abnormality 4 HP:0010928 HP:0010928 Abnormality of orotic acid metabolism Phenotypic_abnormality 4 HP:0010930 HP:0010930 Abnormality of monovalent inorganic cation homeostasis Phenotypic_abnormality 4 HP:0010933 HP:0010933 Abnormality of xanthine metabolism Phenotypic_abnormality 4 HP:0010960 HP:0010960 Bronchopulmonary sequestration Phenotypic_abnormality 4 HP:0010964 HP:0010964 Abnormality of long-chain fatty-acid metabolism Phenotypic_abnormality 4 HP:0010966 HP:0010966 Abnormality of fatty-acid anion metabolism Phenotypic_abnormality 4 HP:0010969 HP:0010969 Abnormality of glycolipid metabolism Phenotypic_abnormality 4 HP:0010971 HP:0010971 Absence of Lutheran antigen on erythrocytes Phenotypic_abnormality 4 HP:0010972 HP:0010972 Anemia of inadequate production Phenotypic_abnormality 4 HP:0010974 HP:0010974 Abnormality of myeloid leukocytes Phenotypic_abnormality 4 HP:0010979 HP:0010979 Abnormality of the level of lipoprotein cholesterol Phenotypic_abnormality 4 HP:0010988 HP:0010988 Abnormality of the extrinsic pathway Phenotypic_abnormality 4 HP:0010989 HP:0010989 Abnormality of the intrinsic pathway Phenotypic_abnormality 4 HP:0010990 HP:0010990 Abnormality of the common coagulation pathway Phenotypic_abnormality 4 HP:0010997 HP:0010997 Chromosomal breakage induced by ionizing radiation Phenotypic_abnormality 4 HP:0010998 HP:0010998 Increased susceptibility to spontaneous sister chromatid exchange Phenotypic_abnormality 4 HP:0011015 HP:0011015 Abnormality of blood glucose concentration Phenotypic_abnormality 4 HP:0011016 HP:0011016 Abnormality of urine glucose concentration Phenotypic_abnormality 4 HP:0011022 HP:0011022 Abnormality of unsaturated fatty acid metabolism Phenotypic_abnormality 4 HP:0011030 HP:0011030 Abnormality of transition element cation homeostasis Phenotypic_abnormality 4 HP:0011039 HP:0011039 Abnormality of the helix Phenotypic_abnormality 4 HP:0011068 HP:0011068 Odontoma Phenotypic_abnormality 4 HP:0011097 HP:0011097 Epileptic spasms Phenotypic_abnormality 4 HP:0011104 HP:0011104 Abnormality of blood volume homeostasis Phenotypic_abnormality 4 HP:0011110 HP:0011110 Tonsillitis Phenotypic_abnormality 4 HP:0011112 HP:0011112 Abnormality of serum cytokine level Phenotypic_abnormality 4 HP:0011113 HP:0011113 Abnormality of cytokine secretion Phenotypic_abnormality 4 HP:0011121 HP:0011121 Abnormality of skin morphology Phenotypic_abnormality 4 HP:0011122 HP:0011122 Abnormality of skin physiology Phenotypic_abnormality 4 HP:0011134 HP:0011134 Low-grade fever Phenotypic_abnormality 4 HP:0011135 HP:0011135 Aplasia/Hypoplasia of the sweat glands Phenotypic_abnormality 4 HP:0011145 HP:0011145 Symptomatic seizures Phenotypic_abnormality 4 HP:0011146 HP:0011146 Dialeptic seizures Phenotypic_abnormality 4 HP:0011252 HP:0011252 Cryptotia Phenotypic_abnormality 4 HP:0011276 HP:0011276 Vascular skin abnormality Phenotypic_abnormality 4 HP:0011298 HP:0011298 Prominent digit pad Phenotypic_abnormality 4 HP:0011347 HP:0011347 Abnormality of ocular abduction Phenotypic_abnormality 4 HP:0011353 HP:0011353 Arterial intimal fibrosis Phenotypic_abnormality 4 HP:0011357 HP:0011357 Abnormality of hair density Phenotypic_abnormality 4 HP:0011362 HP:0011362 Abnormal hair quantity Phenotypic_abnormality 4 HP:0011363 HP:0011363 Abnormality of hair growth rate Phenotypic_abnormality 4 HP:0011376 HP:0011376 Morphological abnormality of the vestibule of the inner ear Phenotypic_abnormality 4 HP:0011380 HP:0011380 Morphological abnormality of the semicircular canal Phenotypic_abnormality 4 HP:0011384 HP:0011384 Abnormality of the internal auditory canal Phenotypic_abnormality 4 HP:0011391 HP:0011391 Morphological abnormality of the nerves of the inner ear Phenotypic_abnormality 4 HP:0011398 HP:0011398 Central hypotonia Phenotypic_abnormality 4 HP:0011400 HP:0011400 Abnormal CNS myelination Phenotypic_abnormality 4 HP:0011403 HP:0011403 Abnormal umbilical cord blood vessels Phenotypic_abnormality 4 HP:0011407 HP:0011407 Proportionate tall stature Phenotypic_abnormality 4 HP:0011408 HP:0011408 Moderate intrauterine growth retardation Phenotypic_abnormality 4 HP:0011414 HP:0011414 Hydropic placenta Phenotypic_abnormality 4 HP:0011415 HP:0011415 Calcified placenta Phenotypic_abnormality 4 HP:0011416 HP:0011416 Placental infarction Phenotypic_abnormality 4 HP:0011417 HP:0011417 Long umbilical cord Phenotypic_abnormality 4 HP:0011418 HP:0011418 Abnormal insertion of umbilical cord Phenotypic_abnormality 4 HP:0011419 HP:0011419 Placental abruption Phenotypic_abnormality 4 HP:0011423 HP:0011423 Hyperchloremia Phenotypic_abnormality 4 HP:0011432 HP:0011432 High maternal serum alpha-fetoprotein Phenotypic_abnormality 4 HP:0011433 HP:0011433 High maternal serum chorionic gonadotropin Phenotypic_abnormality 4 HP:0011434 HP:0011434 Low maternal serum chorionic gonadotropin Phenotypic_abnormality 4 HP:0011435 HP:0011435 Low maternal serum PAPP-A Phenotypic_abnormality 4 HP:0011439 HP:0011439 Anesthetic-induced rhabdomylosis Phenotypic_abnormality 4 HP:0011440 HP:0011440 Alcohol-induced rhabdomyolysis Phenotypic_abnormality 4 HP:0011443 HP:0011443 Abnormality of coordination Phenotypic_abnormality 4 HP:0011450 HP:0011450 CNS infection Phenotypic_abnormality 4 HP:0011475 HP:0011475 Persistent stapedial artery Phenotypic_abnormality 4 HP:0011479 HP:0011479 Abnormality of the lacrimal punctum Phenotypic_abnormality 4 HP:0011481 HP:0011481 Abnormality of the lacrimal duct Phenotypic_abnormality 4 HP:0011482 HP:0011482 Abnormality of the lacrimal gland Phenotypic_abnormality 4 HP:0011514 HP:0011514 Abnormality of binocular vision Phenotypic_abnormality 4 HP:0011534 HP:0011534 Abnormal spatial orientation of the cardiac segments Phenotypic_abnormality 4 HP:0011545 HP:0011545 Abnormal connection of the cardiac segments Phenotypic_abnormality 4 HP:0011603 HP:0011603 Congenital malformation of the great arteries Phenotypic_abnormality 4 HP:0011616 HP:0011616 Pulmonary situs inversus Phenotypic_abnormality 4 HP:0011617 HP:0011617 Pulmonary situs ambiguus Phenotypic_abnormality 4 HP:0011671 HP:0011671 Interrupted inferior vena cava with azygous continuation Phenotypic_abnormality 4 HP:0011672 HP:0011672 Cardiac myxoma Phenotypic_abnormality 4 HP:0011673 HP:0011673 Cardiac hemangioma Phenotypic_abnormality 4 HP:0011674 HP:0011674 Cardiac teratoma Phenotypic_abnormality 4 HP:0011685 HP:0011685 Infra-aortic superior vena cava Phenotypic_abnormality 4 HP:0011702 HP:0011702 Abnormal electrophysiology of sinoatrial node origin Phenotypic_abnormality 4 HP:0011718 HP:0011718 Abnormality of the pulmonary veins Phenotypic_abnormality 4 HP:0011723 HP:0011723 Congenital malformation of the right heart Phenotypic_abnormality 4 HP:0011729 HP:0011729 Abnormality of joint mobility Phenotypic_abnormality 4 HP:0011731 HP:0011731 Abnormality of circulating cortisol level Phenotypic_abnormality 4 HP:0011742 HP:0011742 Ectopic adrenal gland Phenotypic_abnormality 4 HP:0011747 HP:0011747 Abnormality of the anterior pituitary Phenotypic_abnormality 4 HP:0011750 HP:0011750 Neoplasm of the anterior pituitary Phenotypic_abnormality 4 HP:0011751 HP:0011751 Abnormality of the posterior pituitary Phenotypic_abnormality 4 HP:0011768 HP:0011768 Parathyroid dysgenesis Phenotypic_abnormality 4 HP:0011788 HP:0011788 Increased serum free triiodothyronine (fT3) Phenotypic_abnormality 4 HP:0011789 HP:0011789 Thyroid-stimulating hormone receptor (TSHR) defect Phenotypic_abnormality 4 HP:0011799 HP:0011799 Abnormality of facial soft tissue Phenotypic_abnormality 4 HP:0011809 HP:0011809 Paradoxical myotonia Phenotypic_abnormality 4 HP:0011810 HP:0011810 Impaired two-point discrimination Phenotypic_abnormality 4 HP:0011811 HP:0011811 Impaired touch localization Phenotypic_abnormality 4 HP:0011812 HP:0011812 Agraphesthesia Phenotypic_abnormality 4 HP:0011814 HP:0011814 Increased urinary hypoxanthine Phenotypic_abnormality 4 HP:0011846 HP:0011846 Osteoblastoma Phenotypic_abnormality 4 HP:0011847 HP:0011847 Giant cell tumor of bone Phenotypic_abnormality 4 HP:0011848 HP:0011848 Abdominal colic Phenotypic_abnormality 4 HP:0011849 HP:0011849 Abnormal bone ossification Phenotypic_abnormality 4 HP:0011854 HP:0011854 Hemoperitoneum Phenotypic_abnormality 4 HP:0011855 HP:0011855 Pharyngeal edema Phenotypic_abnormality 4 HP:0011857 HP:0011857 Plasmacytoma Phenotypic_abnormality 4 HP:0011862 HP:0011862 Abnormal bone collagen fibril morphology Phenotypic_abnormality 4 HP:0011864 HP:0011864 Elevated plasma pyrophosphate Phenotypic_abnormality 4 HP:0011877 HP:0011877 Increased mean platelet volume Phenotypic_abnormality 4 HP:0011878 HP:0011878 Abnormal platelet membrane protein expression Phenotypic_abnormality 4 HP:0011880 HP:0011880 Acute disseminated intravascular coagulation Phenotypic_abnormality 4 HP:0011883 HP:0011883 Abnormal platelet granules Phenotypic_abnormality 4 HP:0011891 HP:0011891 Post-partum hemorrhage Phenotypic_abnormality 4 HP:0011892 HP:0011892 Vitamin K deficiency Phenotypic_abnormality 4 HP:0011893 HP:0011893 Abnormal leukocyte count Phenotypic_abnormality 4 HP:0011895 HP:0011895 Anemia due to reduced life span of red cells Phenotypic_abnormality 4 HP:0011903 HP:0011903 Hemoglobin H Phenotypic_abnormality 4 HP:0011904 HP:0011904 Persistence of hemoglobin F Phenotypic_abnormality 4 HP:0011905 HP:0011905 Reduced hemoglobin A Phenotypic_abnormality 4 HP:0011944 HP:0011944 Small vessel vasculitis Phenotypic_abnormality 4 HP:0011947 HP:0011947 Respiratory tract infection Phenotypic_abnormality 4 HP:0011954 HP:0011954 Nodular regenerative hyperplasia of liver Phenotypic_abnormality 4 HP:0011955 HP:0011955 Hepatic granulomatosis Phenotypic_abnormality 4 HP:0011959 HP:0011959 Unilateral hypoplasia of pectoralis major muscle Phenotypic_abnormality 4 HP:0011965 HP:0011965 Abnormality of citrulline metabolism Phenotypic_abnormality 4 HP:0011974 HP:0011974 Myelofibrosis Phenotypic_abnormality 4 HP:0011975 HP:0011975 Aminoglycoside-induced hearing loss Phenotypic_abnormality 4 HP:0012023 HP:0012023 Galactosuria Phenotypic_abnormality 4 HP:0012024 HP:0012024 Hypergalactosemia Phenotypic_abnormality 4 HP:0012025 HP:0012025 Abnormality of ornithine metabolism Phenotypic_abnormality 4 HP:0012031 HP:0012031 Lipomatous tumor Phenotypic_abnormality 4 HP:0012035 HP:0012035 Steatocystoma multiplex Phenotypic_abnormality 4 HP:0012036 HP:0012036 Sternocleidomastoid amyotrophy Phenotypic_abnormality 4 HP:0012037 HP:0012037 Pectoralis amyotrophy Phenotypic_abnormality 4 HP:0012047 HP:0012047 Hemeralopia Phenotypic_abnormality 4 HP:0012052 HP:0012052 Low serum calcitriol (1,25-dihydroxycholecalciferol) Phenotypic_abnormality 4 HP:0012053 HP:0012053 Low serum calcifediol (25-hydroxycholecalciferol) Phenotypic_abnormality 4 HP:0012056 HP:0012056 Cutaneous melanoma Phenotypic_abnormality 4 HP:0012061 HP:0012061 Urinary excretion of sialylated oligosaccharides Phenotypic_abnormality 4 HP:0012062 HP:0012062 Bone cyst Phenotypic_abnormality 4 HP:0012066 HP:0012066 Increased urinary disaccharide excretion Phenotypic_abnormality 4 HP:0012068 HP:0012068 Aspartylglucosaminuria Phenotypic_abnormality 4 HP:0012075 HP:0012075 Personality disorder Phenotypic_abnormality 4 HP:0012079 HP:0012079 Abnormality of central motor conduction Phenotypic_abnormality 4 HP:0012084 HP:0012084 Abnormality of skeletal muscle fiber size Phenotypic_abnormality 4 HP:0012089 HP:0012089 Arteritis Phenotypic_abnormality 4 HP:0012090 HP:0012090 Abnormality of pancreas morphology Phenotypic_abnormality 4 HP:0012091 HP:0012091 Abnormality of pancreas physiology Phenotypic_abnormality 4 HP:0012098 HP:0012098 Edema of the dorsum of feet Phenotypic_abnormality 4 HP:0012101 HP:0012101 Decreased serum creatinine Phenotypic_abnormality 4 HP:0012108 HP:0012108 Primary open angle glaucoma Phenotypic_abnormality 4 HP:0012109 HP:0012109 Primary angle closure glaucoma Phenotypic_abnormality 4 HP:0012112 HP:0012112 Abnormality of circulating corticosterone level Phenotypic_abnormality 4 HP:0012113 HP:0012113 Abnormality of creatine metabolism Phenotypic_abnormality 4 HP:0012115 HP:0012115 Hepatitis Phenotypic_abnormality 4 HP:0012117 HP:0012117 Hyperalbuminemia Phenotypic_abnormality 4 HP:0012119 HP:0012119 Methemoglobinemia Phenotypic_abnormality 4 HP:0012127 HP:0012127 Uraciluria Phenotypic_abnormality 4 HP:0012131 HP:0012131 Abnormal number of erythroid precursors Phenotypic_abnormality 4 HP:0012134 HP:0012134 Dysplastic erythropoesis Phenotypic_abnormality 4 HP:0012136 HP:0012136 Dysplastic granulopoesis Phenotypic_abnormality 4 HP:0012137 HP:0012137 Abnormal number of granulocyte precursors Phenotypic_abnormality 4 HP:0012146 HP:0012146 Abnormality of von Willebrand factor Phenotypic_abnormality 4 HP:0012164 HP:0012164 Asterixis Phenotypic_abnormality 4 HP:0012175 HP:0012175 Resistance to activated protein C Phenotypic_abnormality 4 HP:0012180 HP:0012180 Cystic medial necrosis Phenotypic_abnormality 4 HP:0012195 HP:0012195 Irregular respiration Phenotypic_abnormality 4 HP:0012196 HP:0012196 Cheyne-Stokes respiration Phenotypic_abnormality 4 HP:0012199 HP:0012199 Cluster headache Phenotypic_abnormality 4 HP:0012200 HP:0012200 Abnormality of prothrombin Phenotypic_abnormality 4 HP:0012202 HP:0012202 increased serum bile acid concentration Phenotypic_abnormality 4 HP:0012211 HP:0012211 Abnormal renal physiology Phenotypic_abnormality 4 HP:0012218 HP:0012218 Alveolar soft part sarcoma Phenotypic_abnormality 4 HP:0012221 HP:0012221 Pretibial blistering Phenotypic_abnormality 4 HP:0012223 HP:0012223 Splenic rupture Phenotypic_abnormality 4 HP:0012224 HP:0012224 Circulating immune complexes Phenotypic_abnormality 4 HP:0012228 HP:0012228 Tension-type headache Phenotypic_abnormality 4 HP:0012232 HP:0012232 Shortened QT interval Phenotypic_abnormality 4 HP:0012236 HP:0012236 Elevated sweat chloride Phenotypic_abnormality 4 HP:0012237 HP:0012237 Urocanic aciduria Phenotypic_abnormality 4 HP:0012241 HP:0012241 Levator palpebrae superioris atrophy Phenotypic_abnormality 4 HP:0012242 HP:0012242 Superior rectus atrophy Phenotypic_abnormality 4 HP:0012244 HP:0012244 Abnormal sex determination Phenotypic_abnormality 4 HP:0012248 HP:0012248 Prolonged PR interval Phenotypic_abnormality 4 HP:0012249 HP:0012249 Abnormal ST segment Phenotypic_abnormality 4 HP:0012254 HP:0012254 Ewing's sarcoma Phenotypic_abnormality 4 HP:0012262 HP:0012262 Abnormal ciliary motility Phenotypic_abnormality 4 HP:0012269 HP:0012269 Abnormal muscle glycogen content Phenotypic_abnormality 4 HP:0012272 HP:0012272 J wave Phenotypic_abnormality 4 HP:0012276 HP:0012276 Digital flexor tenosynovitis Phenotypic_abnormality 4 HP:0012281 HP:0012281 Chylous ascites Phenotypic_abnormality 4 HP:0012287 HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency Phenotypic_abnormality 4 HP:0012289 HP:0012289 Facial neoplasm Phenotypic_abnormality 4 HP:0012290 HP:0012290 Mouth neoplasm Phenotypic_abnormality 4 HP:0012291 HP:0012291 Tracheal neoplasm Phenotypic_abnormality 4 HP:0012310 HP:0012310 Abnormal monocyte count Phenotypic_abnormality 4 HP:0012315 HP:0012315 Histiocytoma Phenotypic_abnormality 4 HP:0012318 HP:0012318 Occipital neuralgia Phenotypic_abnormality 4 HP:0012331 HP:0012331 Abnormal autonomic nervous system morphology Phenotypic_abnormality 4 HP:0012332 HP:0012332 Abnormal autonomic nervous system physiology Phenotypic_abnormality 4 HP:0012335 HP:0012335 Abnormality of folate metabolism Phenotypic_abnormality 4 HP:0012339 HP:0012339 Increased resting energy expenditure Phenotypic_abnormality 4 HP:0012340 HP:0012340 Decreased resting energy expenditure Phenotypic_abnormality 4 HP:0012346 HP:0012346 Abnormal protein glycosylation Phenotypic_abnormality 4 HP:0000010 HP:0000010 Recurrent urinary tract infections Phenotypic_abnormality 4 HP:0000014 HP:0000014 Abnormality of the bladder Phenotypic_abnormality 4 HP:0000025 HP:0000025 Functional abnormality of male internal genitalia Phenotypic_abnormality 4 HP:0000069 HP:0000069 Abnormality of the ureter Phenotypic_abnormality 4 HP:0000077 HP:0000077 Abnormality of the kidney Phenotypic_abnormality 4 HP:0000139 HP:0000139 Uterine prolapse Phenotypic_abnormality 4 HP:0000144 HP:0000144 Decreased fertility Phenotypic_abnormality 4 HP:0000153 HP:0000153 Abnormality of the mouth Phenotypic_abnormality 4 HP:0000158 HP:0000158 Macroglossia Phenotypic_abnormality 4 HP:0000223 HP:0000223 Abnormality of taste sensation Phenotypic_abnormality 4 HP:0000282 HP:0000282 Facial edema Phenotypic_abnormality 4 HP:0000284 HP:0000284 Abnormality of the ocular region Phenotypic_abnormality 4 HP:0000290 HP:0000290 Abnormality of the forehead Phenotypic_abnormality 4 HP:0000306 HP:0000306 Abnormality of the chin Phenotypic_abnormality 4 HP:0000309 HP:0000309 Abnormality of the midface Phenotypic_abnormality 4 HP:0000315 HP:0000315 Abnormality of the orbital region Phenotypic_abnormality 4 HP:0000358 HP:0000358 Posteriorly rotated ears Phenotypic_abnormality 4 HP:0000363 HP:0000363 Abnormality of earlobe Phenotypic_abnormality 4 HP:0000366 HP:0000366 Abnormality of the nose Phenotypic_abnormality 4 HP:0000369 HP:0000369 Low-set ears Phenotypic_abnormality 4 HP:0000371 HP:0000371 Acute otitis media Phenotypic_abnormality 4 HP:0000375 HP:0000375 Abnormality of cochlea Phenotypic_abnormality 4 HP:0000378 HP:0000378 Cupped ear Phenotypic_abnormality 4 HP:0000384 HP:0000384 Preauricular skin tag Phenotypic_abnormality 4 HP:0000389 HP:0000389 Chronic otitis media Phenotypic_abnormality 4 HP:0000394 HP:0000394 Lop ear Phenotypic_abnormality 4 HP:0000400 HP:0000400 Macrotia Phenotypic_abnormality 4 HP:0000402 HP:0000402 Stenosis of the external auditory canal Phenotypic_abnormality 4 HP:0000403 HP:0000403 Recurrent otitis media Phenotypic_abnormality 4 HP:0000405 HP:0000405 Conductive hearing impairment Phenotypic_abnormality 4 HP:0000407 HP:0000407 Sensorineural hearing impairment Phenotypic_abnormality 4 HP:0000411 HP:0000411 Protruding ear Phenotypic_abnormality 4 HP:0000413 HP:0000413 Atresia of the external auditory canal Phenotypic_abnormality 4 HP:0000466 HP:0000466 Limited neck range of motion Phenotypic_abnormality 4 HP:0000467 HP:0000467 Neck muscle weakness Phenotypic_abnormality 4 HP:0000473 HP:0000473 Torticollis Phenotypic_abnormality 4 HP:0000480 HP:0000480 Retinal coloboma Phenotypic_abnormality 4 HP:0000483 HP:0000483 Astigmatism Phenotypic_abnormality 4 HP:0000491 HP:0000491 Keratitis Phenotypic_abnormality 4 HP:0000498 HP:0000498 Blepharitis Phenotypic_abnormality 4 HP:0000499 HP:0000499 Abnormality of the eyelashes Phenotypic_abnormality 4 HP:0000505 HP:0000505 Visual impairment Phenotypic_abnormality 4 HP:0000509 HP:0000509 Conjunctivitis Phenotypic_abnormality 4 HP:0000534 HP:0000534 Abnormality of the eyebrow Phenotypic_abnormality 4 HP:0000540 HP:0000540 Hypermetropia Phenotypic_abnormality 4 HP:0000542 HP:0000542 Impaired ocular adduction Phenotypic_abnormality 4 HP:0000545 HP:0000545 Myopia Phenotypic_abnormality 4 HP:0000549 HP:0000549 Abnormal conjugate eye movement Phenotypic_abnormality 4 HP:0000551 HP:0000551 Abnormality of color vision Phenotypic_abnormality 4 HP:0000553 HP:0000553 Abnormality of the uvea Phenotypic_abnormality 4 HP:0000554 HP:0000554 Uveitis Phenotypic_abnormality 4 HP:0000570 HP:0000570 Abnormality of saccadic eye movements Phenotypic_abnormality 4 HP:0000588 HP:0000588 Optic nerve coloboma Phenotypic_abnormality 4 HP:0000591 HP:0000591 Abnormality of the sclera Phenotypic_abnormality 4 HP:0000597 HP:0000597 Ophthalmoparesis Phenotypic_abnormality 4 HP:0000605 HP:0000605 Supranuclear gaze palsy Phenotypic_abnormality 4 HP:0000606 HP:0000606 Abnormality of the periorbital region Phenotypic_abnormality 4 HP:0000611 HP:0000611 Choroid coloboma Phenotypic_abnormality 4 HP:0000612 HP:0000612 Iris coloboma Phenotypic_abnormality 4 HP:0000613 HP:0000613 Photophobia Phenotypic_abnormality 4 HP:0000617 HP:0000617 Abnormality of ocular smooth pursuit Phenotypic_abnormality 4 HP:0000620 HP:0000620 Dacrocystitis Phenotypic_abnormality 4 HP:0000625 HP:0000625 Cleft eyelid Phenotypic_abnormality 4 HP:0000630 HP:0000630 Abnormality of retinal arteries Phenotypic_abnormality 4 HP:0000633 HP:0000633 Decreased lacrimation Phenotypic_abnormality 4 HP:0000649 HP:0000649 Abnormality of vision evoked potentials Phenotypic_abnormality 4 HP:0000657 HP:0000657 Oculomotor apraxia Phenotypic_abnormality 4 HP:0000662 HP:0000662 Night blindness Phenotypic_abnormality 4 HP:0000667 HP:0000667 Phthisis bulbi Phenotypic_abnormality 4 HP:0000709 HP:0000709 Psychosis Phenotypic_abnormality 4 HP:0000710 HP:0000710 Hyperorality Phenotypic_abnormality 4 HP:0000711 HP:0000711 Restlessness Phenotypic_abnormality 4 HP:0000719 HP:0000719 Inappropriate behavior Phenotypic_abnormality 4 HP:0000721 HP:0000721 Lack of spontaneous play Phenotypic_abnormality 4 HP:0000722 HP:0000722 Obsessive-compulsive behavior Phenotypic_abnormality 4 HP:0000723 HP:0000723 Restrictive behavior Phenotypic_abnormality 4 HP:0000729 HP:0000729 Autistic behavior Phenotypic_abnormality 4 HP:0000732 HP:0000732 Inflexible adherence to routines or rituals Phenotypic_abnormality 4 HP:0000733 HP:0000733 Stereotypic behavior Phenotypic_abnormality 4 HP:0000736 HP:0000736 Short attention span Phenotypic_abnormality 4 HP:0000738 HP:0000738 Hallucinations Phenotypic_abnormality 4 HP:0000743 HP:0000743 Frontal release signs Phenotypic_abnormality 4 HP:0000744 HP:0000744 Low frustration tolerance Phenotypic_abnormality 4 HP:0000746 HP:0000746 Delusions Phenotypic_abnormality 4 HP:0000751 HP:0000751 Personality changes Phenotypic_abnormality 4 HP:0000752 HP:0000752 Hyperactivity Phenotypic_abnormality 4 HP:0000757 HP:0000757 Lack of insight Phenotypic_abnormality 4 HP:0000762 HP:0000762 Decreased nerve conduction velocity Phenotypic_abnormality 4 HP:0000764 HP:0000764 Peripheral axonal degeneration Phenotypic_abnormality 4 HP:0000765 HP:0000765 Abnormality of the thorax Phenotypic_abnormality 4 HP:0000795 HP:0000795 Abnormality of the urethra Phenotypic_abnormality 4 HP:0000802 HP:0000802 Impotence Phenotypic_abnormality 4 HP:0000811 HP:0000811 Abnormal external genitalia Phenotypic_abnormality 4 HP:0000812 HP:0000812 Abnormal internal genitalia Phenotypic_abnormality 4 HP:0000821 HP:0000821 Hypothyroidism Phenotypic_abnormality 4 HP:0000826 HP:0000826 Precocious puberty Phenotypic_abnormality 4 HP:0000829 HP:0000829 Hypoparathyroidism Phenotypic_abnormality 4 HP:0000835 HP:0000835 Adrenal hypoplasia Phenotypic_abnormality 4 HP:0000836 HP:0000836 Hyperthyroidism Phenotypic_abnormality 4 HP:0000843 HP:0000843 Hyperparathyroidism Phenotypic_abnormality 4 HP:0000846 HP:0000846 Adrenal insufficiency Phenotypic_abnormality 4 HP:0000849 HP:0000849 Adrenocortical abnormality Phenotypic_abnormality 4 HP:0000852 HP:0000852 Pseudohypoparathyroidism Phenotypic_abnormality 4 HP:0000853 HP:0000853 Goiter Phenotypic_abnormality 4 HP:0000855 HP:0000855 Insulin resistance Phenotypic_abnormality 4 HP:0000872 HP:0000872 Hashimoto thyroiditis Phenotypic_abnormality 4 HP:0000875 HP:0000875 Episodic hypertension Phenotypic_abnormality 4 HP:0000925 HP:0000925 Abnormality of the vertebral column Phenotypic_abnormality 4 HP:0000935 HP:0000935 Thickened cortex of long bones Phenotypic_abnormality 4 HP:0000940 HP:0000940 Abnormal diaphysis morphology Phenotypic_abnormality 4 HP:0000944 HP:0000944 Abnormality of the metaphyses Phenotypic_abnormality 4 HP:0000947 HP:0000947 Dumbbell-shaped long bone Phenotypic_abnormality 4 HP:0000957 HP:0000957 Cafe-au-lait spot Phenotypic_abnormality 4 HP:0000966 HP:0000966 Hypohidrosis Phenotypic_abnormality 4 HP:0000968 HP:0000968 Ectodermal dysplasia Phenotypic_abnormality 4 HP:0000970 HP:0000970 Anhidrosis Phenotypic_abnormality 4 HP:0000975 HP:0000975 Hyperhidrosis Phenotypic_abnormality 4 HP:0000991 HP:0000991 Xanthomatosis Phenotypic_abnormality 4 HP:0000992 HP:0000992 Cutaneous photosensitivity Phenotypic_abnormality 4 HP:0000993 HP:0000993 Molluscoid pseudotumors Phenotypic_abnormality 4 HP:0001004 HP:0001004 Lymphedema Phenotypic_abnormality 4 HP:0001005 HP:0001005 Dermatological manifestations of systemic disorders Phenotypic_abnormality 4 HP:0001015 HP:0001015 Prominent superficial veins Phenotypic_abnormality 4 HP:0001028 HP:0001028 Hemangioma Phenotypic_abnormality 4 HP:0001030 HP:0001030 Fragile skin Phenotypic_abnormality 4 HP:0001031 HP:0001031 Subcutaneous lipoma Phenotypic_abnormality 4 HP:0001052 HP:0001052 Nevus flammeus Phenotypic_abnormality 4 HP:0001053 HP:0001053 Hypopigmented skin patches Phenotypic_abnormality 4 HP:0001054 HP:0001054 Numerous nevi Phenotypic_abnormality 4 HP:0001056 HP:0001056 Milia Phenotypic_abnormality 4 HP:0001058 HP:0001058 Poor wound healing Phenotypic_abnormality 4 HP:0001059 HP:0001059 Pterygium Phenotypic_abnormality 4 HP:0001067 HP:0001067 Neurofibromas Phenotypic_abnormality 4 HP:0001087 HP:0001087 Congenital glaucoma Phenotypic_abnormality 4 HP:0001123 HP:0001123 Visual field defect Phenotypic_abnormality 4 HP:0001140 HP:0001140 Epibulbar dermoid Phenotypic_abnormality 4 HP:0001196 HP:0001196 Short umbilical cord Phenotypic_abnormality 4 HP:0001231 HP:0001231 Abnormality of the fingernails Phenotypic_abnormality 4 HP:0001232 HP:0001232 Nail bed telangiectasia Phenotypic_abnormality 4 HP:0001249 HP:0001249 Intellectual disability Phenotypic_abnormality 4 HP:0001252 HP:0001252 Muscular hypotonia Phenotypic_abnormality 4 HP:0001265 HP:0001265 Hyporeflexia Phenotypic_abnormality 4 HP:0001278 HP:0001278 Orthostatic hypotension Phenotypic_abnormality 4 HP:0001284 HP:0001284 Areflexia Phenotypic_abnormality 4 HP:0001288 HP:0001288 Gait disturbance Phenotypic_abnormality 4 HP:0001291 HP:0001291 Abnormality of the cranial nerves Phenotypic_abnormality 4 HP:0001328 HP:0001328 Specific learning disability Phenotypic_abnormality 4 HP:0001332 HP:0001332 Dystonia Phenotypic_abnormality 4 HP:0001335 HP:0001335 Bimanual synkinesia Phenotypic_abnormality 4 HP:0001337 HP:0001337 Tremor Phenotypic_abnormality 4 HP:0001351 HP:0001351 Jerk-locked premyoclonus spikes Phenotypic_abnormality 4 HP:0001369 HP:0001369 Arthritis Phenotypic_abnormality 4 HP:0001373 HP:0001373 Joint dislocation Phenotypic_abnormality 4 HP:0001379 HP:0001379 Degenerative joint disease Phenotypic_abnormality 4 HP:0001386 HP:0001386 Joint swelling Phenotypic_abnormality 4 HP:0001394 HP:0001394 Cirrhosis Phenotypic_abnormality 4 HP:0001395 HP:0001395 Hepatic fibrosis Phenotypic_abnormality 4 HP:0001397 HP:0001397 Hepatic steatosis Phenotypic_abnormality 4 HP:0001400 HP:0001400 Hepatic abscesses due to immunodeficiency Phenotypic_abnormality 4 HP:0001409 HP:0001409 Portal hypertension Phenotypic_abnormality 4 HP:0001410 HP:0001410 Decreased liver function Phenotypic_abnormality 4 HP:0001433 HP:0001433 Hepatosplenomegaly Phenotypic_abnormality 4 HP:0001467 HP:0001467 Aplasia/Hypoplasia involving the musculature of the upper limbs Phenotypic_abnormality 4 HP:0001477 HP:0001477 Compensatory chin elevation Phenotypic_abnormality 4 HP:0001488 HP:0001488 Bilateral ptosis Phenotypic_abnormality 4 HP:0001491 HP:0001491 Congenital fibrosis of extraocular muscles Phenotypic_abnormality 4 HP:0001508 HP:0001508 Failure to thrive Phenotypic_abnormality 4 HP:0001513 HP:0001513 Obesity Phenotypic_abnormality 4 HP:0001518 HP:0001518 Small for gestational age Phenotypic_abnormality 4 HP:0001519 HP:0001519 Disproportionate tall stature Phenotypic_abnormality 4 HP:0001530 HP:0001530 Mild postnatal growth retardation Phenotypic_abnormality 4 HP:0001533 HP:0001533 Slender build Phenotypic_abnormality 4 HP:0001537 HP:0001537 Umbilical hernia Phenotypic_abnormality 4 HP:0001538 HP:0001538 Protuberant abdomen Phenotypic_abnormality 4 HP:0001540 HP:0001540 Diastasis recti Phenotypic_abnormality 4 HP:0001543 HP:0001543 Gastroschisis Phenotypic_abnormality 4 HP:0001544 HP:0001544 Prominent umbilicus Phenotypic_abnormality 4 HP:0001600 HP:0001600 Abnormality of the larynx Phenotypic_abnormality 4 HP:0001637 HP:0001637 Abnormality of the myocardium Phenotypic_abnormality 4 HP:0001649 HP:0001649 Tachycardia Phenotypic_abnormality 4 HP:0001654 HP:0001654 Abnormality of the heart valves Phenotypic_abnormality 4 HP:0001657 HP:0001657 Prolonged QT interval Phenotypic_abnormality 4 HP:0001662 HP:0001662 Bradycardia Phenotypic_abnormality 4 HP:0001671 HP:0001671 Abnormality of the cardiac septa Phenotypic_abnormality 4 HP:0001675 HP:0001675 Rhythm disturbances associated with pheochromocytoma Phenotypic_abnormality 4 HP:0001679 HP:0001679 Abnormality of the aorta Phenotypic_abnormality 4 HP:0001694 HP:0001694 Right-to-left shunt Phenotypic_abnormality 4 HP:0001695 HP:0001695 Cardiac arrest Phenotypic_abnormality 4 HP:0001696 HP:0001696 Situs inversus totalis Phenotypic_abnormality 4 HP:0001697 HP:0001697 Abnormality of the pericardium Phenotypic_abnormality 4 HP:0001706 HP:0001706 Endocardial fibroelastosis Phenotypic_abnormality 4 HP:0001710 HP:0001710 Conotruncal defect Phenotypic_abnormality 4 HP:0001713 HP:0001713 Abnormality of cardiac ventricle Phenotypic_abnormality 4 HP:0001722 HP:0001722 High-output congestive heart failure Phenotypic_abnormality 4 HP:0001727 HP:0001727 Thromboembolic stroke Phenotypic_abnormality 4 HP:0001730 HP:0001730 Progressive hearing impairment Phenotypic_abnormality 4 HP:0001739 HP:0001739 Abnormality of the nasopharynx Phenotypic_abnormality 4 HP:0001744 HP:0001744 Splenomegaly Phenotypic_abnormality 4 HP:0001751 HP:0001751 Vestibular dysfunction Phenotypic_abnormality 4 HP:0001805 HP:0001805 Thick nail Phenotypic_abnormality 4 HP:0001806 HP:0001806 Onycholysis Phenotypic_abnormality 4 HP:0001808 HP:0001808 Fragile nails Phenotypic_abnormality 4 HP:0001816 HP:0001816 Thin nail Phenotypic_abnormality 4 HP:0001824 HP:0001824 Weight loss Phenotypic_abnormality 4 HP:0001827 HP:0001827 Genital tract atresia Phenotypic_abnormality 4 HP:0001873 HP:0001873 Thrombocytopenia Phenotypic_abnormality 4 HP:0001876 HP:0001876 Pancytopenia Phenotypic_abnormality 4 HP:0001888 HP:0001888 Lymphopenia Phenotypic_abnormality 4 HP:0001890 HP:0001890 Autoimmune hemolytic anemia Phenotypic_abnormality 4 HP:0001894 HP:0001894 Thrombocytosis Phenotypic_abnormality 4 HP:0001896 HP:0001896 Reticulocytopenia Phenotypic_abnormality 4 HP:0001898 HP:0001898 Increased red blood cell mass Phenotypic_abnormality 4 HP:0001899 HP:0001899 Increased hematocrit Phenotypic_abnormality 4 HP:0001900 HP:0001900 Increased hemoglobin Phenotypic_abnormality 4 HP:0001904 HP:0001904 Autoimmune neutropenia Phenotypic_abnormality 4 HP:0001909 HP:0001909 Leukemia Phenotypic_abnormality 4 HP:0001923 HP:0001923 Reticulocytosis Phenotypic_abnormality 4 HP:0001927 HP:0001927 Acanthocytosis Phenotypic_abnormality 4 HP:0001942 HP:0001942 Metabolic acidosis Phenotypic_abnormality 4 HP:0001947 HP:0001947 Renal tubular acidosis Phenotypic_abnormality 4 HP:0001949 HP:0001949 Hypokalemic alkalosis Phenotypic_abnormality 4 HP:0001950 HP:0001950 Respiratory alkalosis Phenotypic_abnormality 4 HP:0001952 HP:0001952 Abnormal glucose tolerance Phenotypic_abnormality 4 HP:0001954 HP:0001954 Episodic fever Phenotypic_abnormality 4 HP:0001955 HP:0001955 Unexplained fevers Phenotypic_abnormality 4 HP:0001959 HP:0001959 Polydipsia Phenotypic_abnormality 4 HP:0001961 HP:0001961 Hypoplastic heart Phenotypic_abnormality 4 HP:0001962 HP:0001962 Palpitations Phenotypic_abnormality 4 HP:0001971 HP:0001971 Hypersplenism Phenotypic_abnormality 4 HP:0001973 HP:0001973 Autoimmune thrombocytopenia Phenotypic_abnormality 4 HP:0001976 HP:0001976 Reduced antithrombin III activity Phenotypic_abnormality 4 HP:0001980 HP:0001980 Megaloblastic bone marrow Phenotypic_abnormality 4 HP:0001981 HP:0001981 Schistocytosis Phenotypic_abnormality 4 HP:0001986 HP:0001986 Hypertonic dehydration Phenotypic_abnormality 4 HP:0001987 HP:0001987 Hyperammonemia Phenotypic_abnormality 4 HP:0001989 HP:0001989 Fetal akinesia sequence Phenotypic_abnormality 4 HP:0001995 HP:0001995 Hyperchloremic acidosis Phenotypic_abnormality 4 HP:0001999 HP:0001999 Abnormal facial shape Phenotypic_abnormality 4 HP:0002006 HP:0002006 Facial cleft Phenotypic_abnormality 4 HP:0002013 HP:0002013 Vomiting Phenotypic_abnormality 4 HP:0002018 HP:0002018 Nausea Phenotypic_abnormality 4 HP:0002028 HP:0002028 Chronic diarrhea Phenotypic_abnormality 4 HP:0002041 HP:0002041 Intractable diarrhea Phenotypic_abnormality 4 HP:0002062 HP:0002062 Morphological abnormality of the pyramidal tract Phenotypic_abnormality 4 HP:0002063 HP:0002063 Rigidity Phenotypic_abnormality 4 HP:0002071 HP:0002071 Abnormality of extrapyramidal motor function Phenotypic_abnormality 4 HP:0002076 HP:0002076 Migraine Phenotypic_abnormality 4 HP:0002084 HP:0002084 Encephalocele Phenotypic_abnormality 4 HP:0002091 HP:0002091 Restrictive lung disease Phenotypic_abnormality 4 HP:0002092 HP:0002092 Pulmonary hypertension Phenotypic_abnormality 4 HP:0002097 HP:0002097 Emphysema Phenotypic_abnormality 4 HP:0002099 HP:0002099 Asthma Phenotypic_abnormality 4 HP:0002101 HP:0002101 Abnormal lung lobation Phenotypic_abnormality 4 HP:0002103 HP:0002103 Abnormality of the pleura Phenotypic_abnormality 4 HP:0002104 HP:0002104 Apnea Phenotypic_abnormality 4 HP:0002105 HP:0002105 Hemoptysis Phenotypic_abnormality 4 HP:0002107 HP:0002107 Pneumothorax Phenotypic_abnormality 4 HP:0002113 HP:0002113 Pulmonary infiltrates Phenotypic_abnormality 4 HP:0002133 HP:0002133 Status epilepticus Phenotypic_abnormality 4 HP:0002143 HP:0002143 Abnormality of the spinal cord Phenotypic_abnormality 4 HP:0002148 HP:0002148 Hypophosphatemia Phenotypic_abnormality 4 HP:0002151 HP:0002151 Increased serum lactate Phenotypic_abnormality 4 HP:0002155 HP:0002155 Hypertriglyceridemia Phenotypic_abnormality 4 HP:0002164 HP:0002164 Nail dysplasia Phenotypic_abnormality 4 HP:0002165 HP:0002165 Pterygium formation (nails) Phenotypic_abnormality 4 HP:0002167 HP:0002167 Neurological speech impairment Phenotypic_abnormality 4 HP:0002169 HP:0002169 Clonus Phenotypic_abnormality 4 HP:0002172 HP:0002172 Postural instability Phenotypic_abnormality 4 HP:0002181 HP:0002181 Cerebral edema Phenotypic_abnormality 4 HP:0002183 HP:0002183 Phonophobia Phenotypic_abnormality 4 HP:0002186 HP:0002186 Apraxia Phenotypic_abnormality 4 HP:0002193 HP:0002193 Pseudobulbar behavioral symptoms Phenotypic_abnormality 4 HP:0002197 HP:0002197 Generalized seizures Phenotypic_abnormality 4 HP:0002204 HP:0002204 Pulmonary embolism Phenotypic_abnormality 4 HP:0002205 HP:0002205 Recurrent respiratory infections Phenotypic_abnormality 4 HP:0002206 HP:0002206 Pulmonary fibrosis Phenotypic_abnormality 4 HP:0002207 HP:0002207 Diffuse reticular or finely nodular infiltrations Phenotypic_abnormality 4 HP:0002240 HP:0002240 Hepatomegaly Phenotypic_abnormality 4 HP:0002254 HP:0002254 Intermittent diarrhea Phenotypic_abnormality 4 HP:0002269 HP:0002269 Abnormality of neuronal migration Phenotypic_abnormality 4 HP:0002277 HP:0002277 Horner syndrome Phenotypic_abnormality 4 HP:0002300 HP:0002300 Mutism Phenotypic_abnormality 4 HP:0002307 HP:0002307 Drooling Phenotypic_abnormality 4 HP:0002331 HP:0002331 Headache (with pheochromocytoma) Phenotypic_abnormality 4 HP:0002353 HP:0002353 EEG abnormality Phenotypic_abnormality 4 HP:0002355 HP:0002355 Difficulty walking Phenotypic_abnormality 4 HP:0002359 HP:0002359 Frequent falls Phenotypic_abnormality 4 HP:0002366 HP:0002366 Abnormality of the lower motor neuron Phenotypic_abnormality 4 HP:0002373 HP:0002373 Febrile seizures Phenotypic_abnormality 4 HP:0002374 HP:0002374 Diminished movement Phenotypic_abnormality 4 HP:0002376 HP:0002376 Developmental regression Phenotypic_abnormality 4 HP:0002390 HP:0002390 Spinal arteriovenous malformation Phenotypic_abnormality 4 HP:0002408 HP:0002408 Cerebral arteriovenous malformation Phenotypic_abnormality 4 HP:0002411 HP:0002411 Myokymia Phenotypic_abnormality 4 HP:0002421 HP:0002421 Poor head control Phenotypic_abnormality 4 HP:0002448 HP:0002448 Progressive encephalopathy Phenotypic_abnormality 4 HP:0002450 HP:0002450 Abnormality of the motor neurons Phenotypic_abnormality 4 HP:0002457 HP:0002457 Abnormal head movements Phenotypic_abnormality 4 HP:0002460 HP:0002460 Distal muscle weakness Phenotypic_abnormality 4 HP:0002476 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) Phenotypic_abnormality 4 HP:0002480 HP:0002480 Hepatic encephalopathy Phenotypic_abnormality 4 HP:0002487 HP:0002487 Hyperkinesis Phenotypic_abnormality 4 HP:0002511 HP:0002511 Alzheimer disease Phenotypic_abnormality 4 HP:0002516 HP:0002516 Increased intracranial pressure Phenotypic_abnormality 4 HP:0002533 HP:0002533 Abnormal posturing Phenotypic_abnormality 4 HP:0002552 HP:0002552 Trichodysplasia Phenotypic_abnormality 4 HP:0002557 HP:0002557 Hypoplastic nipples Phenotypic_abnormality 4 HP:0002561 HP:0002561 Absent nipples Phenotypic_abnormality 4 HP:0002574 HP:0002574 Episodic abdominal pain Phenotypic_abnormality 4 HP:0002586 HP:0002586 Peritonitis Phenotypic_abnormality 4 HP:0002605 HP:0002605 Hepatic necrosis Phenotypic_abnormality 4 HP:0002608 HP:0002608 Celiac disease Phenotypic_abnormality 4 HP:0002621 HP:0002621 Atherosclerosis Phenotypic_abnormality 4 HP:0002625 HP:0002625 Deep venous thrombosis Phenotypic_abnormality 4 HP:0002629 HP:0002629 Gastrointestinal arteriovenous malformation Phenotypic_abnormality 4 HP:0002632 HP:0002632 Low-to-normal blood pressure Phenotypic_abnormality 4 HP:0002636 HP:0002636 Aneurysm of an abdominal artery Phenotypic_abnormality 4 HP:0002639 HP:0002639 Budd-Chiari syndrome Phenotypic_abnormality 4 HP:0002640 HP:0002640 Hypertension associated with pheochromocytoma Phenotypic_abnormality 4 HP:0002642 HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels Phenotypic_abnormality 4 HP:0002644 HP:0002644 Abnormality of pelvic girdle bone morphology Phenotypic_abnormality 4 HP:0002651 HP:0002651 Spondyloepimetaphyseal dysplasia Phenotypic_abnormality 4 HP:0002654 HP:0002654 Multiple epiphyseal dysplasia Phenotypic_abnormality 4 HP:0002655 HP:0002655 Spondyloepiphyseal dysplasia Phenotypic_abnormality 4 HP:0002656 HP:0002656 Epiphyseal dysplasia Phenotypic_abnormality 4 HP:0002657 HP:0002657 Spondylometaphyseal dysplasia Phenotypic_abnormality 4 HP:0002661 HP:0002661 Painless fractures due to injury Phenotypic_abnormality 4 HP:0002665 HP:0002665 Lymphoma Phenotypic_abnormality 4 HP:0002667 HP:0002667 Nephroblastoma (Wilms tumor) Phenotypic_abnormality 4 HP:0002669 HP:0002669 Osteosarcoma Phenotypic_abnormality 4 HP:0002671 HP:0002671 Basal cell carcinoma Phenotypic_abnormality 4 HP:0002716 HP:0002716 Lymphadenopathy Phenotypic_abnormality 4 HP:0002717 HP:0002717 Adrenal overactivity Phenotypic_abnormality 4 HP:0002718 HP:0002718 Recurrent bacterial infections Phenotypic_abnormality 4 HP:0002722 HP:0002722 Recurrent abscess formation Phenotypic_abnormality 4 HP:0002725 HP:0002725 Systemic lupus erythematosus Phenotypic_abnormality 4 HP:0002732 HP:0002732 Lymph node hypoplasia Phenotypic_abnormality 4 HP:0002750 HP:0002750 Delayed skeletal maturation Phenotypic_abnormality 4 HP:0002755 HP:0002755 Osteomyelitis due to immunodeficiency Phenotypic_abnormality 4 HP:0002756 HP:0002756 Pathologic fracture Phenotypic_abnormality 4 HP:0002757 HP:0002757 Recurrent fractures Phenotypic_abnormality 4 HP:0002764 HP:0002764 Stippled chondral calcification Phenotypic_abnormality 4 HP:0002781 HP:0002781 Upper airway obstruction Phenotypic_abnormality 4 HP:0002789 HP:0002789 Tachypnea Phenotypic_abnormality 4 HP:0002790 HP:0002790 Neonatal breathing dysregulation Phenotypic_abnormality 4 HP:0002791 HP:0002791 Hypoventilation Phenotypic_abnormality 4 HP:0002797 HP:0002797 Osteolysis Phenotypic_abnormality 4 HP:0002813 HP:0002813 Abnormality of limb bone morphology Phenotypic_abnormality 4 HP:0002829 HP:0002829 Arthralgia Phenotypic_abnormality 4 HP:0002836 HP:0002836 Bladder exstrophy Phenotypic_abnormality 4 HP:0002840 HP:0002840 Lymphadenitis Phenotypic_abnormality 4 HP:0002841 HP:0002841 Recurrent fungal infections Phenotypic_abnormality 4 HP:0002849 HP:0002849 Absence of lymph node germinal center Phenotypic_abnormality 4 HP:0002859 HP:0002859 Rhabdomyosarcoma Phenotypic_abnormality 4 HP:0002860 HP:0002860 Squamous cell carcinoma Phenotypic_abnormality 4 HP:0002863 HP:0002863 Myelodysplasia Phenotypic_abnormality 4 HP:0002883 HP:0002883 Hyperventilation Phenotypic_abnormality 4 HP:0002884 HP:0002884 Hepatoblastoma Phenotypic_abnormality 4 HP:0002896 HP:0002896 Neoplasm of the liver Phenotypic_abnormality 4 HP:0002905 HP:0002905 Hyperphosphatemia Phenotypic_abnormality 4 HP:0002910 HP:0002910 Elevated hepatic transaminases Phenotypic_abnormality 4 HP:0002912 HP:0002912 Methylmalonic acidemia Phenotypic_abnormality 4 HP:0002920 HP:0002920 Decreased circulating ACTH level Phenotypic_abnormality 4 HP:0002921 HP:0002921 Abnormality of the cerebrospinal fluid Phenotypic_abnormality 4 HP:0002923 HP:0002923 Rheumatoid factor positive Phenotypic_abnormality 4 HP:0002930 HP:0002930 Thyroid hormone receptor defect Phenotypic_abnormality 4 HP:0002977 HP:0002977 Aplasia/Hypoplasia involving the central nervous system Phenotypic_abnormality 4 HP:0003002 HP:0003002 Breast carcinoma Phenotypic_abnormality 4 HP:0003009 HP:0003009 Enhanced neurotoxicity of vincristine Phenotypic_abnormality 4 HP:0003023 HP:0003023 Bowing of limbs due to multiple fractures Phenotypic_abnormality 4 HP:0003026 HP:0003026 Short long bones Phenotypic_abnormality 4 HP:0003037 HP:0003037 Enlarged joints Phenotypic_abnormality 4 HP:0003040 HP:0003040 Arthropathy Phenotypic_abnormality 4 HP:0003043 HP:0003043 Abnormality of the shoulder Phenotypic_abnormality 4 HP:0003073 HP:0003073 Hypoalbuminemia Phenotypic_abnormality 4 HP:0003079 HP:0003079 Defective DNA repair after ultraviolet radiation damage Phenotypic_abnormality 4 HP:0003084 HP:0003084 Fractures of the long bones Phenotypic_abnormality 4 HP:0003100 HP:0003100 Slender long bone Phenotypic_abnormality 4 HP:0003103 HP:0003103 Abnormal cortical bone morphology Phenotypic_abnormality 4 HP:0003105 HP:0003105 Protuberances at ends of long bones Phenotypic_abnormality 4 HP:0003112 HP:0003112 Abnormality of serum amino acid levels Phenotypic_abnormality 4 HP:0003113 HP:0003113 Hypochloremia Phenotypic_abnormality 4 HP:0003124 HP:0003124 Hypercholesterolemia Phenotypic_abnormality 4 HP:0003128 HP:0003128 Lactic acidosis Phenotypic_abnormality 4 HP:0003130 HP:0003130 Abnormal peripheral myelination Phenotypic_abnormality 4 HP:0003134 HP:0003134 Abnormality of peripheral nerve conduction Phenotypic_abnormality 4 HP:0003138 HP:0003138 Increased blood urea nitrogen (BUN) Phenotypic_abnormality 4 HP:0003146 HP:0003146 Hypocholesterolemia Phenotypic_abnormality 4 HP:0003148 HP:0003148 Elevated serum acid phosphatase Phenotypic_abnormality 4 HP:0003154 HP:0003154 Increased circulating ACTH level Phenotypic_abnormality 4 HP:0003155 HP:0003155 Elevated alkaline phosphatase Phenotypic_abnormality 4 HP:0003161 HP:0003161 4-Hydroxyphenylpyruvic aciduria Phenotypic_abnormality 4 HP:0003200 HP:0003200 Ragged-red muscle fibers Phenotypic_abnormality 4 HP:0003205 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Phenotypic_abnormality 4 HP:0003207 HP:0003207 Arterial calcification Phenotypic_abnormality 4 HP:0003208 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Phenotypic_abnormality 4 HP:0003213 HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA Phenotypic_abnormality 4 HP:0003214 HP:0003214 Prolonged G2 phase of cell cycle Phenotypic_abnormality 4 HP:0003215 HP:0003215 Dicarboxylic aciduria Phenotypic_abnormality 4 HP:0003218 HP:0003218 Oroticaciduria Phenotypic_abnormality 4 HP:0003221 HP:0003221 Chromosomal breakage induced by crosslinking agents Phenotypic_abnormality 4 HP:0003226 HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Phenotypic_abnormality 4 HP:0003236 HP:0003236 Elevated serum creatine phosphokinase Phenotypic_abnormality 4 HP:0003249 HP:0003249 Genital ulcers Phenotypic_abnormality 4 HP:0003252 HP:0003252 Anteriorly displaced genitalia Phenotypic_abnormality 4 HP:0003259 HP:0003259 Elevated serum creatinine Phenotypic_abnormality 4 HP:0003262 HP:0003262 Smooth muscle antibody positivity Phenotypic_abnormality 4 HP:0003264 HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase Phenotypic_abnormality 4 HP:0003267 HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase activity Phenotypic_abnormality 4 HP:0003282 HP:0003282 Low alkaline phosphatase Phenotypic_abnormality 4 HP:0003287 HP:0003287 Abnormality of mitochondrial metabolism Phenotypic_abnormality 4 HP:0003292 HP:0003292 Decreased serum leptin Phenotypic_abnormality 4 HP:0003323 HP:0003323 Progressive muscle weakness Phenotypic_abnormality 4 HP:0003324 HP:0003324 Generalized muscle weakness Phenotypic_abnormality 4 HP:0003325 HP:0003325 Limb-girdle muscle weakness Phenotypic_abnormality 4 HP:0003327 HP:0003327 Axial muscle weakness Phenotypic_abnormality 4 HP:0003328 HP:0003328 Abnormal hair laboratory examination Phenotypic_abnormality 4 HP:0003334 HP:0003334 Elevated circulating catecholamine level Phenotypic_abnormality 4 HP:0003349 HP:0003349 Low cholesterol esterification rates Phenotypic_abnormality 4 HP:0003352 HP:0003352 Endopolyploidy on chromosome studies of bone marrow Phenotypic_abnormality 4 HP:0003353 HP:0003353 Propionyl-CoA carboxylase deficiency Phenotypic_abnormality 4 HP:0003355 HP:0003355 Aminoaciduria Phenotypic_abnormality 4 HP:0003357 HP:0003357 Thymic hormone decreased Phenotypic_abnormality 4 HP:0003382 HP:0003382 Hypertrophic nerve changes Phenotypic_abnormality 4 HP:0003398 HP:0003398 Abnormality of the neuromuscular junction Phenotypic_abnormality 4 HP:0003403 HP:0003403 EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation Phenotypic_abnormality 4 HP:0003405 HP:0003405 Diffuse axonal swelling Phenotypic_abnormality 4 HP:0003406 HP:0003406 Peripheral nerve compression Phenotypic_abnormality 4 HP:0003443 HP:0003443 Decreased size of nerve terminals Phenotypic_abnormality 4 HP:0003445 HP:0003445 EMG: neuropathic changes Phenotypic_abnormality 4 HP:0003449 HP:0003449 Cold-induced muscle cramps Phenotypic_abnormality 4 HP:0003451 HP:0003451 Increased rate of premature chromosome condensation Phenotypic_abnormality 4 HP:0003453 HP:0003453 Antineutrophil antibody positivity Phenotypic_abnormality 4 HP:0003454 HP:0003454 Platelet antibody positive Phenotypic_abnormality 4 HP:0003458 HP:0003458 EMG: myopathic abnormalities Phenotypic_abnormality 4 HP:0003461 HP:0003461 Increased urinary O-linked sialopeptides Phenotypic_abnormality 4 HP:0003462 HP:0003462 Elevated 8-dehydrocholesterol Phenotypic_abnormality 4 HP:0003464 HP:0003464 Abnormal cholesterol homeostasis Phenotypic_abnormality 4 HP:0003465 HP:0003465 Elevated 8(9)-cholestenol Phenotypic_abnormality 4 HP:0003470 HP:0003470 Paralysis Phenotypic_abnormality 4 HP:0003473 HP:0003473 Fatigable weakness Phenotypic_abnormality 4 HP:0003482 HP:0003482 EMG: axonal abnormality Phenotypic_abnormality 4 HP:0003490 HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoA Phenotypic_abnormality 4 HP:0003493 HP:0003493 Antinuclear antibody positivity Phenotypic_abnormality 4 HP:0003498 HP:0003498 Disproportionate short stature Phenotypic_abnormality 4 HP:0003508 HP:0003508 Proportionate short stature Phenotypic_abnormality 4 HP:0003517 HP:0003517 Birth length greater than 97th percentile Phenotypic_abnormality 4 HP:0003521 HP:0003521 Disproportionate short-trunk short stature Phenotypic_abnormality 4 HP:0003530 HP:0003530 Glutaric acidemia Phenotypic_abnormality 4 HP:0003540 HP:0003540 Impaired platelet aggregation Phenotypic_abnormality 4 HP:0003542 HP:0003542 Increased serum pyruvate Phenotypic_abnormality 4 HP:0003546 HP:0003546 Exercise intolerance Phenotypic_abnormality 4 HP:0003551 HP:0003551 Difficulty climbing stairs Phenotypic_abnormality 4 HP:0003555 HP:0003555 Muscle fiber splitting Phenotypic_abnormality 4 HP:0003558 HP:0003558 Viral infection-induced rhabdomyolysis Phenotypic_abnormality 4 HP:0003561 HP:0003561 Birth length less than 3rd percentile Phenotypic_abnormality 4 HP:0003564 HP:0003564 Folate-dependent fragile site at Xq28 Phenotypic_abnormality 4 HP:0003568 HP:0003568 Decreased glucosephosphate isomerase activity Phenotypic_abnormality 4 HP:0003571 HP:0003571 Propionicacidemia Phenotypic_abnormality 4 HP:0003607 HP:0003607 4-Hydroxyphenylacetic aciduria Phenotypic_abnormality 4 HP:0003613 HP:0003613 Antiphospholipid antibody positivity Phenotypic_abnormality 4 HP:0003637 HP:0003637 Reduced 4-Hydroxyphenylpyruvate dioxygenase activity Phenotypic_abnormality 4 HP:0003654 HP:0003654 Reduced dihydropyrimidine dehydrogenase activity Phenotypic_abnormality 4 HP:0003657 HP:0003657 Granular osmiophilic deposits (GROD) in cells Phenotypic_abnormality 4 HP:0003687 HP:0003687 Centrally nucleated skeletal muscle fibers Phenotypic_abnormality 4 HP:0003689 HP:0003689 Multiple mitochondrial DNA deletions Phenotypic_abnormality 4 HP:0003690 HP:0003690 Limb muscle weakness Phenotypic_abnormality 4 HP:0003693 HP:0003693 Distal amyotrophy Phenotypic_abnormality 4 HP:0003697 HP:0003697 Scapuloperoneal amyotrophy Phenotypic_abnormality 4 HP:0003698 HP:0003698 Difficulty standing Phenotypic_abnormality 4 HP:0003700 HP:0003700 Generalized amyotrophy Phenotypic_abnormality 4 HP:0003701 HP:0003701 Proximal muscle weakness Phenotypic_abnormality 4 HP:0003704 HP:0003704 Scapuloperoneal weakness Phenotypic_abnormality 4 HP:0003710 HP:0003710 Exercise-induced muscle cramps Phenotypic_abnormality 4 HP:0003713 HP:0003713 Muscle fiber necrosis Phenotypic_abnormality 4 HP:0003715 HP:0003715 Myofibrillar myopathy Phenotypic_abnormality 4 HP:0003717 HP:0003717 Minimal subcutaneous fat Phenotypic_abnormality 4 HP:0003720 HP:0003720 Generalized muscle hypertrophy Phenotypic_abnormality 4 HP:0003730 HP:0003730 EMG: myotonic runs Phenotypic_abnormality 4 HP:0003736 HP:0003736 Autophagic vacuoles Phenotypic_abnormality 4 HP:0003738 HP:0003738 Exercise-induced myalgia Phenotypic_abnormality 4 HP:0003740 HP:0003740 Myotonia with warm-up phenomenon Phenotypic_abnormality 4 HP:0003741 HP:0003741 Congenital muscular dystrophy Phenotypic_abnormality 4 HP:0003749 HP:0003749 Pelvic girdle muscle weakness Phenotypic_abnormality 4 HP:0003756 HP:0003756 Skeletal myopathy Phenotypic_abnormality 4 HP:0003759 HP:0003759 Hypoplasia of lymphatic vessels Phenotypic_abnormality 4 HP:0003764 HP:0003764 Nevus Phenotypic_abnormality 4 HP:0003789 HP:0003789 Minicore (multicore) myopathy Phenotypic_abnormality 4 HP:0003791 HP:0003791 Deposits immunoreactive to beta-amyloid protein Phenotypic_abnormality 4 HP:0003797 HP:0003797 Limb-girdle muscle atrophy Phenotypic_abnormality 4 HP:0003803 HP:0003803 Type 1 muscle fiber predominance Phenotypic_abnormality 4 HP:0003805 HP:0003805 Rimmed vacuoles Phenotypic_abnormality 4 HP:0000008 HP:0000008 Abnormality of female internal genitalia Phenotypic_abnormality 5 HP:0000009 HP:0000009 Functional abnormality of the bladder Phenotypic_abnormality 5 HP:0000015 HP:0000015 Bladder diverticulum Phenotypic_abnormality 5 HP:0000022 HP:0000022 Abnormality of male internal genitalia Phenotypic_abnormality 5 HP:0000023 HP:0000023 Inguinal hernia Phenotypic_abnormality 5 HP:0000026 HP:0000026 Male hypogonadism Phenotypic_abnormality 5 HP:0000032 HP:0000032 Abnormality of male external genitalia Phenotypic_abnormality 5 HP:0000042 HP:0000042 Absent external genitalia Phenotypic_abnormality 5 HP:0000044 HP:0000044 Hypogonadotrophic hypogonadism Phenotypic_abnormality 5 HP:0000055 HP:0000055 Abnormality of female external genitalia Phenotypic_abnormality 5 HP:0000062 HP:0000062 Ambiguous genitalia Phenotypic_abnormality 5 HP:0000070 HP:0000070 Ureterocele Phenotypic_abnormality 5 HP:0000072 HP:0000072 Hydroureter Phenotypic_abnormality 5 HP:0000073 HP:0000073 Ureteral duplication Phenotypic_abnormality 5 HP:0000076 HP:0000076 Vesicoureteral reflux Phenotypic_abnormality 5 HP:0000093 HP:0000093 Proteinuria Phenotypic_abnormality 5 HP:0000133 HP:0000133 Gonadal dysgenesis Phenotypic_abnormality 5 HP:0000134 HP:0000134 Female hypogonadism Phenotypic_abnormality 5 HP:0000148 HP:0000148 Vaginal atresia Phenotypic_abnormality 5 HP:0000150 HP:0000150 Gonadoblastoma Phenotypic_abnormality 5 HP:0000159 HP:0000159 Abnormality of the lip Phenotypic_abnormality 5 HP:0000163 HP:0000163 Abnormality of the oral cavity Phenotypic_abnormality 5 HP:0000169 HP:0000169 Gingival fibromatosis Phenotypic_abnormality 5 HP:0000201 HP:0000201 Pierre-Robin sequence Phenotypic_abnormality 5 HP:0000202 HP:0000202 Oral cleft Phenotypic_abnormality 5 HP:0000238 HP:0000238 Hydrocephalus Phenotypic_abnormality 5 HP:0000240 HP:0000240 Abnormality of skull size Phenotypic_abnormality 5 HP:0000264 HP:0000264 Abnormality of the mastoid Phenotypic_abnormality 5 HP:0000272 HP:0000272 Malar flattening Phenotypic_abnormality 5 HP:0000274 HP:0000274 Small face Phenotypic_abnormality 5 HP:0000275 HP:0000275 Narrow face Phenotypic_abnormality 5 HP:0000276 HP:0000276 Long face Phenotypic_abnormality 5 HP:0000280 HP:0000280 Coarse facial features Phenotypic_abnormality 5 HP:0000283 HP:0000283 Broad face Phenotypic_abnormality 5 HP:0000288 HP:0000288 Abnormality of the philtrum Phenotypic_abnormality 5 HP:0000295 HP:0000295 Doll-like facies Phenotypic_abnormality 5 HP:0000297 HP:0000297 Facial hypotonia Phenotypic_abnormality 5 HP:0000300 HP:0000300 Oval face Phenotypic_abnormality 5 HP:0000303 HP:0000303 Mandibular prognathia Phenotypic_abnormality 5 HP:0000307 HP:0000307 Pointed chin Phenotypic_abnormality 5 HP:0000311 HP:0000311 Round face Phenotypic_abnormality 5 HP:0000317 HP:0000317 Facial myokymia Phenotypic_abnormality 5 HP:0000320 HP:0000320 Bird-like facies Phenotypic_abnormality 5 HP:0000321 HP:0000321 Square face Phenotypic_abnormality 5 HP:0000324 HP:0000324 Facial asymmetry Phenotypic_abnormality 5 HP:0000325 HP:0000325 Triangular face Phenotypic_abnormality 5 HP:0000326 HP:0000326 Abnormality of the maxilla Phenotypic_abnormality 5 HP:0000329 HP:0000329 Facial hemangioma Phenotypic_abnormality 5 HP:0000331 HP:0000331 Short chin Phenotypic_abnormality 5 HP:0000337 HP:0000337 Broad forehead Phenotypic_abnormality 5 HP:0000340 HP:0000340 Sloping forehead Phenotypic_abnormality 5 HP:0000341 HP:0000341 Narrow forehead Phenotypic_abnormality 5 HP:0000348 HP:0000348 High forehead Phenotypic_abnormality 5 HP:0000350 HP:0000350 Small forehead Phenotypic_abnormality 5 HP:0000361 HP:0000361 Pulsatile tinnitus (tympanic paraganglioma) Phenotypic_abnormality 5 HP:0000368 HP:0000368 Low-set, posteriorly rotated ears Phenotypic_abnormality 5 HP:0000391 HP:0000391 Thickened helices Phenotypic_abnormality 5 HP:0000395 HP:0000395 Prominent antihelix Phenotypic_abnormality 5 HP:0000408 HP:0000408 Progressive sensorineural hearing impairment Phenotypic_abnormality 5 HP:0000410 HP:0000410 Mixed hearing impairment Phenotypic_abnormality 5 HP:0000415 HP:0000415 Abnormality of the choanae Phenotypic_abnormality 5 HP:0000419 HP:0000419 Abnormality of the nasal septum Phenotypic_abnormality 5 HP:0000422 HP:0000422 Abnormality of the nasal bridge Phenotypic_abnormality 5 HP:0000433 HP:0000433 Abnormality of the nasal mucosa Phenotypic_abnormality 5 HP:0000481 HP:0000481 Abnormality of the cornea Phenotypic_abnormality 5 HP:0000486 HP:0000486 Strabismus Phenotypic_abnormality 5 HP:0000492 HP:0000492 Abnormality of the eyelid Phenotypic_abnormality 5 HP:0000497 HP:0000497 Globe retraction and deviation on abduction Phenotypic_abnormality 5 HP:0000511 HP:0000511 Vertical supranuclear gaze palsy Phenotypic_abnormality 5 HP:0000514 HP:0000514 Slow saccadic eye movements Phenotypic_abnormality 5 HP:0000517 HP:0000517 Abnormality of the lens Phenotypic_abnormality 5 HP:0000522 HP:0000522 Alacrima Phenotypic_abnormality 5 HP:0000525 HP:0000525 Abnormality of the iris Phenotypic_abnormality 5 HP:0000528 HP:0000528 Anophthalmia Phenotypic_abnormality 5 HP:0000557 HP:0000557 Buphthalmos Phenotypic_abnormality 5 HP:0000564 HP:0000564 Lacrimal duct atresia Phenotypic_abnormality 5 HP:0000568 HP:0000568 Microphthalmos Phenotypic_abnormality 5 HP:0000571 HP:0000571 Hypometric saccades Phenotypic_abnormality 5 HP:0000572 HP:0000572 Visual loss Phenotypic_abnormality 5 HP:0000573 HP:0000573 Retinal hemorrhage Phenotypic_abnormality 5 HP:0000575 HP:0000575 Scotoma Phenotypic_abnormality 5 HP:0000579 HP:0000579 Nasolacrimal duct obstruction Phenotypic_abnormality 5 HP:0000592 HP:0000592 Blue sclerae Phenotypic_abnormality 5 HP:0000593 HP:0000593 Abnormality of the anterior chamber Phenotypic_abnormality 5 HP:0000599 HP:0000599 Abnormality of the frontal hairline Phenotypic_abnormality 5 HP:0000602 HP:0000602 Ophthalmoplegia Phenotypic_abnormality 5 HP:0000607 HP:0000607 Periorbital wrinkles Phenotypic_abnormality 5 HP:0000609 HP:0000609 Optic nerve hypoplasia Phenotypic_abnormality 5 HP:0000610 HP:0000610 Abnormality of the choroid Phenotypic_abnormality 5 HP:0000618 HP:0000618 Blindness Phenotypic_abnormality 5 HP:0000619 HP:0000619 Impaired convergence Phenotypic_abnormality 5 HP:0000622 HP:0000622 Blurred vision Phenotypic_abnormality 5 HP:0000629 HP:0000629 Periorbital fullness Phenotypic_abnormality 5 HP:0000631 HP:0000631 Retinal arterial tortuosity Phenotypic_abnormality 5 HP:0000634 HP:0000634 Impaired ocular abduction Phenotypic_abnormality 5 HP:0000639 HP:0000639 Nystagmus Phenotypic_abnormality 5 HP:0000641 HP:0000641 Dysmetric saccades Phenotypic_abnormality 5 HP:0000646 HP:0000646 Amblyopia Phenotypic_abnormality 5 HP:0000650 HP:0000650 Reduced amplitude of pattern visual evoked potentials Phenotypic_abnormality 5 HP:0000651 HP:0000651 Diplopia Phenotypic_abnormality 5 HP:0000658 HP:0000658 Eyelid apraxia Phenotypic_abnormality 5 HP:0000713 HP:0000713 Agitation Phenotypic_abnormality 5 HP:0000716 HP:0000716 Depression Phenotypic_abnormality 5 HP:0000717 HP:0000717 Autism Phenotypic_abnormality 5 HP:0000725 HP:0000725 Psychotic episodes Phenotypic_abnormality 5 HP:0000734 HP:0000734 Disinhibition Phenotypic_abnormality 5 HP:0000735 HP:0000735 Impaired social interactions Phenotypic_abnormality 5 HP:0000737 HP:0000737 Irritability Phenotypic_abnormality 5 HP:0000745 HP:0000745 Diminished motivation Phenotypic_abnormality 5 HP:0000748 HP:0000748 Inappropriate laughter Phenotypic_abnormality 5 HP:0000750 HP:0000750 Delayed speech and language development Phenotypic_abnormality 5 HP:0000753 HP:0000753 Autism with high cognitive abilities Phenotypic_abnormality 5 HP:0000763 HP:0000763 Sensory neuropathy Phenotypic_abnormality 5 HP:0000766 HP:0000766 Abnormality of the sternum Phenotypic_abnormality 5 HP:0000778 HP:0000778 Hypoplasia of the thymus Phenotypic_abnormality 5 HP:0000782 HP:0000782 Abnormality of the scapula Phenotypic_abnormality 5 HP:0000789 HP:0000789 Infertility Phenotypic_abnormality 5 HP:0000815 HP:0000815 Hypergonadotropic hypogonadism Phenotypic_abnormality 5 HP:0000825 HP:0000825 Hyperinsulinemic hypoglycemia Phenotypic_abnormality 5 HP:0000830 HP:0000830 Anterior hypopituitarism Phenotypic_abnormality 5 HP:0000831 HP:0000831 Insulin-resistant diabetes mellitus Phenotypic_abnormality 5 HP:0000832 HP:0000832 Primary hypothyroidism Phenotypic_abnormality 5 HP:0000833 HP:0000833 Glucose intolerance Phenotypic_abnormality 5 HP:0000851 HP:0000851 Congenital hypothyroidism Phenotypic_abnormality 5 HP:0000854 HP:0000854 Thyroid adenoma Phenotypic_abnormality 5 HP:0000859 HP:0000859 Hyperaldosteronism Phenotypic_abnormality 5 HP:0000860 HP:0000860 Parathyroid hypoplasia Phenotypic_abnormality 5 HP:0000867 HP:0000867 Secondary hyperparathyroidism Phenotypic_abnormality 5 HP:0000868 HP:0000868 Decreased fertility in females Phenotypic_abnormality 5 HP:0000889 HP:0000889 Abnormality of the clavicles Phenotypic_abnormality 5 HP:0000896 HP:0000896 Rib exostoses Phenotypic_abnormality 5 HP:0000905 HP:0000905 Progressive clavicular acroosteolysis Phenotypic_abnormality 5 HP:0000918 HP:0000918 Scapular exostoses Phenotypic_abnormality 5 HP:0000941 HP:0000941 Short diaphyses Phenotypic_abnormality 5 HP:0000952 HP:0000952 Jaundice Phenotypic_abnormality 5 HP:0000958 HP:0000958 Dry skin Phenotypic_abnormality 5 HP:0000960 HP:0000960 Sacral dimple Phenotypic_abnormality 5 HP:0000963 HP:0000963 Thin skin Phenotypic_abnormality 5 HP:0000965 HP:0000965 Cutis marmorata Phenotypic_abnormality 5 HP:0000972 HP:0000972 Palmoplantar hyperkeratosis Phenotypic_abnormality 5 HP:0000980 HP:0000980 Pallor Phenotypic_abnormality 5 HP:0000989 HP:0000989 Pruritus Phenotypic_abnormality 5 HP:0000995 HP:0000995 Melanocytic nevus Phenotypic_abnormality 5 HP:0000998 HP:0000998 Hypertrichosis Phenotypic_abnormality 5 HP:0001000 HP:0001000 Abnormality of skin pigmentation Phenotypic_abnormality 5 HP:0001002 HP:0001002 Decreased subcutaneous fat Phenotypic_abnormality 5 HP:0001006 HP:0001006 Hypotrichosis Phenotypic_abnormality 5 HP:0001007 HP:0001007 Hirsutism Phenotypic_abnormality 5 HP:0001009 HP:0001009 Telangiectasia Phenotypic_abnormality 5 HP:0001010 HP:0001010 Hypopigmentation of the skin Phenotypic_abnormality 5 HP:0001011 HP:0001011 Diaphoresis (with pheochromocytoma) Phenotypic_abnormality 5 HP:0001012 HP:0001012 Multiple lipomas Phenotypic_abnormality 5 HP:0001013 HP:0001013 Eruptive xanthomas Phenotypic_abnormality 5 HP:0001014 HP:0001014 Angiokeratoma Phenotypic_abnormality 5 HP:0001018 HP:0001018 Abnormal palmar dermatoglyphics Phenotypic_abnormality 5 HP:0001024 HP:0001024 Skin dimple over apex of long bone angulation Phenotypic_abnormality 5 HP:0001025 HP:0001025 Urticaria Phenotypic_abnormality 5 HP:0001026 HP:0001026 Penetrating foot ulcers Phenotypic_abnormality 5 HP:0001029 HP:0001029 Poikiloderma Phenotypic_abnormality 5 HP:0001033 HP:0001033 Facial flushing after alcohol intake Phenotypic_abnormality 5 HP:0001034 HP:0001034 Hypermelanotic macule Phenotypic_abnormality 5 HP:0001038 HP:0001038 Warfarin-induced skin necrosis Phenotypic_abnormality 5 HP:0001039 HP:0001039 Atheroeruptive xanthoma Phenotypic_abnormality 5 HP:0001040 HP:0001040 Multiple pterygia Phenotypic_abnormality 5 HP:0001048 HP:0001048 Cavernous hemangioma Phenotypic_abnormality 5 HP:0001050 HP:0001050 Plethora Phenotypic_abnormality 5 HP:0001057 HP:0001057 Aplasia cutis congenita Phenotypic_abnormality 5 HP:0001060 HP:0001060 Axillary pterygia Phenotypic_abnormality 5 HP:0001062 HP:0001062 Atypical nevi (>5mm with irregular edge and pigmentation) Phenotypic_abnormality 5 HP:0001069 HP:0001069 Episodic hyperhidrosis Phenotypic_abnormality 5 HP:0001072 HP:0001072 Thickened skin Phenotypic_abnormality 5 HP:0001074 HP:0001074 Atypical nevi in non-sun exposed areas Phenotypic_abnormality 5 HP:0001075 HP:0001075 Atrophic scars Phenotypic_abnormality 5 HP:0001076 HP:0001076 Glabellar hemangioma Phenotypic_abnormality 5 HP:0001080 HP:0001080 Biliary tract abnormality Phenotypic_abnormality 5 HP:0001092 HP:0001092 Absent lacrimal punctum Phenotypic_abnormality 5 HP:0001096 HP:0001096 Keratoconjunctivitis Phenotypic_abnormality 5 HP:0001098 HP:0001098 Abnormality of the fundus Phenotypic_abnormality 5 HP:0001106 HP:0001106 Periorbital hyperpigmentation Phenotypic_abnormality 5 HP:0001114 HP:0001114 Xanthelasma Phenotypic_abnormality 5 HP:0001117 HP:0001117 Sudden central visual loss Phenotypic_abnormality 5 HP:0001125 HP:0001125 Hemianopic blurring of vision Phenotypic_abnormality 5 HP:0001129 HP:0001129 Large central visual field defect Phenotypic_abnormality 5 HP:0001133 HP:0001133 Constricted visual fields Phenotypic_abnormality 5 HP:0001141 HP:0001141 Severe visual impairment Phenotypic_abnormality 5 HP:0001144 HP:0001144 Orbital cyst Phenotypic_abnormality 5 HP:0001152 HP:0001152 Saccadic smooth pursuit Phenotypic_abnormality 5 HP:0001212 HP:0001212 Prominent fingertip pads Phenotypic_abnormality 5 HP:0001218 HP:0001218 Autoamputation Phenotypic_abnormality 5 HP:0001226 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits Phenotypic_abnormality 5 HP:0001251 HP:0001251 Ataxia Phenotypic_abnormality 5 HP:0001254 HP:0001254 Lethargy Phenotypic_abnormality 5 HP:0001256 HP:0001256 Intellectual disability, mild Phenotypic_abnormality 5 HP:0001259 HP:0001259 Coma Phenotypic_abnormality 5 HP:0001260 HP:0001260 Dysarthria Phenotypic_abnormality 5 HP:0001262 HP:0001262 Somnolence Phenotypic_abnormality 5 HP:0001263 HP:0001263 Global developmental delay Phenotypic_abnormality 5 HP:0001268 HP:0001268 Mental deterioration Phenotypic_abnormality 5 HP:0001270 HP:0001270 Motor delay Phenotypic_abnormality 5 HP:0001271 HP:0001271 Polyneuropathy Phenotypic_abnormality 5 HP:0001276 HP:0001276 Hypertonia Phenotypic_abnormality 5 HP:0001287 HP:0001287 Meningitis Phenotypic_abnormality 5 HP:0001289 HP:0001289 Confusion Phenotypic_abnormality 5 HP:0001290 HP:0001290 Generalized hypotonia Phenotypic_abnormality 5 HP:0001293 HP:0001293 Cranial nerve compression Phenotypic_abnormality 5 HP:0001300 HP:0001300 Parkinsonism Phenotypic_abnormality 5 HP:0001301 HP:0001301 Chronic sensorineural polyneuropathy Phenotypic_abnormality 5 HP:0001304 HP:0001304 Torsion dystonia Phenotypic_abnormality 5 HP:0001308 HP:0001308 Tongue fasciculations Phenotypic_abnormality 5 HP:0001312 HP:0001312 Giant somatosensory evoked potentials Phenotypic_abnormality 5 HP:0001319 HP:0001319 Neonatal hypotonia Phenotypic_abnormality 5 HP:0001336 HP:0001336 Myoclonus Phenotypic_abnormality 5 HP:0001340 HP:0001340 Enhancement of the C-reflex Phenotypic_abnormality 5 HP:0001341 HP:0001341 Olfactory lobe agenesis Phenotypic_abnormality 5 HP:0001343 HP:0001343 Kernicterus Phenotypic_abnormality 5 HP:0001344 HP:0001344 Absent speech Phenotypic_abnormality 5 HP:0001345 HP:0001345 Psychotic mentation Phenotypic_abnormality 5 HP:0001347 HP:0001347 Hyperreflexia Phenotypic_abnormality 5 HP:0001350 HP:0001350 Slurred speech Phenotypic_abnormality 5 HP:0001360 HP:0001360 Holoprosencephaly Phenotypic_abnormality 5 HP:0001370 HP:0001370 Rheumatoid arthritis Phenotypic_abnormality 5 HP:0001376 HP:0001376 Limitation of joint mobility Phenotypic_abnormality 5 HP:0001382 HP:0001382 Joint hypermobility Phenotypic_abnormality 5 HP:0001396 HP:0001396 Cholestasis Phenotypic_abnormality 5 HP:0001399 HP:0001399 Hepatic failure Phenotypic_abnormality 5 HP:0001403 HP:0001403 Macrovesicular hepatic steatosis Phenotypic_abnormality 5 HP:0001404 HP:0001404 Hepatocellular necrosis Phenotypic_abnormality 5 HP:0001405 HP:0001405 Periportal fibrosis Phenotypic_abnormality 5 HP:0001407 HP:0001407 Hepatic cysts Phenotypic_abnormality 5 HP:0001413 HP:0001413 Micronodular cirrhosis Phenotypic_abnormality 5 HP:0001414 HP:0001414 Microvesicular hepatic steatosis Phenotypic_abnormality 5 HP:0001482 HP:0001482 Subcutaneous nodule Phenotypic_abnormality 5 HP:0001483 HP:0001483 Eye poking Phenotypic_abnormality 5 HP:0001495 HP:0001495 Carpal osteolysis Phenotypic_abnormality 5 HP:0001504 HP:0001504 Metacarpal osteolysis Phenotypic_abnormality 5 HP:0001525 HP:0001525 Severe failure to thrive Phenotypic_abnormality 5 HP:0001531 HP:0001531 Failure to thrive in infancy Phenotypic_abnormality 5 HP:0001539 HP:0001539 Omphalocele Phenotypic_abnormality 5 HP:0001547 HP:0001547 Abnormality of the rib cage Phenotypic_abnormality 5 HP:0001578 HP:0001578 Hypercortisolism Phenotypic_abnormality 5 HP:0001580 HP:0001580 Pigmented micronodular adrenocortical disease Phenotypic_abnormality 5 HP:0001596 HP:0001596 Alopecia Phenotypic_abnormality 5 HP:0001598 HP:0001598 Concave nail Phenotypic_abnormality 5 HP:0001601 HP:0001601 Laryngomalacia Phenotypic_abnormality 5 HP:0001602 HP:0001602 Laryngeal stenosis Phenotypic_abnormality 5 HP:0001607 HP:0001607 Subglottic stenosis Phenotypic_abnormality 5 HP:0001631 HP:0001631 Defect in the atrial septum Phenotypic_abnormality 5 HP:0001633 HP:0001633 Abnormality of the mitral valve Phenotypic_abnormality 5 HP:0001636 HP:0001636 Tetralogy of Fallot Phenotypic_abnormality 5 HP:0001638 HP:0001638 Cardiomyopathy Phenotypic_abnormality 5 HP:0001641 HP:0001641 Abnormality of the pulmonary valve Phenotypic_abnormality 5 HP:0001643 HP:0001643 Patent ductus arteriosus Phenotypic_abnormality 5 HP:0001645 HP:0001645 Sudden cardiac death Phenotypic_abnormality 5 HP:0001646 HP:0001646 Abnormality of the aortic valve Phenotypic_abnormality 5 HP:0001651 HP:0001651 Dextrocardia Phenotypic_abnormality 5 HP:0001660 HP:0001660 Truncus arteriosus Phenotypic_abnormality 5 HP:0001663 HP:0001663 Ventricular fibrillation Phenotypic_abnormality 5 HP:0001664 HP:0001664 Torsade de pointes Phenotypic_abnormality 5 HP:0001669 HP:0001669 Transposition of the great arteries Phenotypic_abnormality 5 HP:0001673 HP:0001673 Tachycardia (with pheochromocytoma) Phenotypic_abnormality 5 HP:0001676 HP:0001676 Palpitations (with pheochromocytoma) Phenotypic_abnormality 5 HP:0001677 HP:0001677 Coronary artery disease Phenotypic_abnormality 5 HP:0001678 HP:0001678 Atrioventricular block Phenotypic_abnormality 5 HP:0001680 HP:0001680 Coarctation of aorta Phenotypic_abnormality 5 HP:0001683 HP:0001683 Ectopia cordis Phenotypic_abnormality 5 HP:0001685 HP:0001685 Myocardial fibrosis Phenotypic_abnormality 5 HP:0001688 HP:0001688 Sinus bradycardia Phenotypic_abnormality 5 HP:0001698 HP:0001698 Pericardial effusion Phenotypic_abnormality 5 HP:0001700 HP:0001700 Myocardial necrosis Phenotypic_abnormality 5 HP:0001701 HP:0001701 Pericarditis Phenotypic_abnormality 5 HP:0001702 HP:0001702 Abnormality of the tricuspid valve Phenotypic_abnormality 5 HP:0001707 HP:0001707 Abnormality of the right ventricle Phenotypic_abnormality 5 HP:0001711 HP:0001711 Abnormality of the left ventricle Phenotypic_abnormality 5 HP:0001714 HP:0001714 Ventricular hypertrophy Phenotypic_abnormality 5 HP:0001717 HP:0001717 Coronary artery calcification Phenotypic_abnormality 5 HP:0001719 HP:0001719 Double outlet right ventricle Phenotypic_abnormality 5 HP:0001724 HP:0001724 Aortic dilatation Phenotypic_abnormality 5 HP:0001726 HP:0001726 Increased prevalence of valvular disease Phenotypic_abnormality 5 HP:0001733 HP:0001733 Pancreatitis Phenotypic_abnormality 5 HP:0001734 HP:0001734 Annular pancreas Phenotypic_abnormality 5 HP:0001737 HP:0001737 Pancreatic cysts Phenotypic_abnormality 5 HP:0001738 HP:0001738 Exocrine pancreatic insufficiency Phenotypic_abnormality 5 HP:0001742 HP:0001742 Nasal obstruction Phenotypic_abnormality 5 HP:0001746 HP:0001746 Asplenia Phenotypic_abnormality 5 HP:0001747 HP:0001747 Accessory spleen Phenotypic_abnormality 5 HP:0001748 HP:0001748 Polysplenia Phenotypic_abnormality 5 HP:0001750 HP:0001750 Single ventricle Phenotypic_abnormality 5 HP:0001756 HP:0001756 Vestibular hypofunction Phenotypic_abnormality 5 HP:0001757 HP:0001757 High-frequency sensorineural hearing impairment Phenotypic_abnormality 5 HP:0001790 HP:0001790 Nonimmune hydrops fetalis Phenotypic_abnormality 5 HP:0001792 HP:0001792 Small nail Phenotypic_abnormality 5 HP:0001795 HP:0001795 Hyperconvex nail Phenotypic_abnormality 5 HP:0001798 HP:0001798 Anonychia Phenotypic_abnormality 5 HP:0001799 HP:0001799 Short nail Phenotypic_abnormality 5 HP:0001803 HP:0001803 Nail pits Phenotypic_abnormality 5 HP:0001807 HP:0001807 Ridged nail Phenotypic_abnormality 5 HP:0001809 HP:0001809 Split nail Phenotypic_abnormality 5 HP:0001810 HP:0001810 Dystrophic toenail Phenotypic_abnormality 5 HP:0001814 HP:0001814 Deep-set nails Phenotypic_abnormality 5 HP:0001818 HP:0001818 Paronychia Phenotypic_abnormality 5 HP:0001820 HP:0001820 Leukonychia Phenotypic_abnormality 5 HP:0001821 HP:0001821 Broad nail Phenotypic_abnormality 5 HP:0001862 HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) Phenotypic_abnormality 5 HP:0001869 HP:0001869 Deep plantar creases Phenotypic_abnormality 5 HP:0001878 HP:0001878 Hemolytic anemia Phenotypic_abnormality 5 HP:0001882 HP:0001882 Leukopenia Phenotypic_abnormality 5 HP:0001895 HP:0001895 Normochromic anemia Phenotypic_abnormality 5 HP:0001897 HP:0001897 Normocytic anemia Phenotypic_abnormality 5 HP:0001902 HP:0001902 Giant platelets Phenotypic_abnormality 5 HP:0001905 HP:0001905 Congenital thrombocytopenia Phenotypic_abnormality 5 HP:0001908 HP:0001908 Hypoplastic anemia Phenotypic_abnormality 5 HP:0001911 HP:0001911 Abnormality of granulocytes Phenotypic_abnormality 5 HP:0001915 HP:0001915 Aplastic anemia Phenotypic_abnormality 5 HP:0001922 HP:0001922 Vacuolated lymphocytes Phenotypic_abnormality 5 HP:0001924 HP:0001924 Sideroblastic anemia Phenotypic_abnormality 5 HP:0001929 HP:0001929 Reduced factor XI activity Phenotypic_abnormality 5 HP:0001931 HP:0001931 Hypochromic anemia Phenotypic_abnormality 5 HP:0001935 HP:0001935 Microcytic anemia Phenotypic_abnormality 5 HP:0001943 HP:0001943 Hypoglycemia Phenotypic_abnormality 5 HP:0001953 HP:0001953 Diabetic ketoacidosis Phenotypic_abnormality 5 HP:0001956 HP:0001956 Truncal obesity Phenotypic_abnormality 5 HP:0001960 HP:0001960 Hypokalemic metabolic alkalosis Phenotypic_abnormality 5 HP:0001972 HP:0001972 Macrocytic anemia Phenotypic_abnormality 5 HP:0001974 HP:0001974 Leukocytosis Phenotypic_abnormality 5 HP:0001975 HP:0001975 Decreased platelet glycoprotein IIb-IIIa Phenotypic_abnormality 5 HP:0001983 HP:0001983 Reduced lymphocyte surface expression of CD43 (sialophorin) Phenotypic_abnormality 5 HP:0001996 HP:0001996 Chronic metabolic acidosis Phenotypic_abnormality 5 HP:0001997 HP:0001997 Gout Phenotypic_abnormality 5 HP:0002003 HP:0002003 Large forehead Phenotypic_abnormality 5 HP:0002007 HP:0002007 Frontal bossing Phenotypic_abnormality 5 HP:0002031 HP:0002031 Abnormality of the esophagus Phenotypic_abnormality 5 HP:0002033 HP:0002033 Poor suck Phenotypic_abnormality 5 HP:0002044 HP:0002044 Zollinger-Ellison syndrome Phenotypic_abnormality 5 HP:0002056 HP:0002056 Abnormality of the glabella Phenotypic_abnormality 5 HP:0002066 HP:0002066 Gait ataxia Phenotypic_abnormality 5 HP:0002067 HP:0002067 Bradykinesia Phenotypic_abnormality 5 HP:0002069 HP:0002069 Generalized tonic-clonic seizures Phenotypic_abnormality 5 HP:0002072 HP:0002072 Chorea Phenotypic_abnormality 5 HP:0002077 HP:0002077 Migraine with aura Phenotypic_abnormality 5 HP:0002080 HP:0002080 Intention tremor Phenotypic_abnormality 5 HP:0002083 HP:0002083 Migraine without aura Phenotypic_abnormality 5 HP:0002089 HP:0002089 Pulmonary hypoplasia Phenotypic_abnormality 5 HP:0002090 HP:0002090 Pneumonia Phenotypic_abnormality 5 HP:0002094 HP:0002094 Dyspnea Phenotypic_abnormality 5 HP:0002102 HP:0002102 Pleuritis Phenotypic_abnormality 5 HP:0002108 HP:0002108 Spontaneous pneumothorax Phenotypic_abnormality 5 HP:0002109 HP:0002109 Abnormality of the bronchi Phenotypic_abnormality 5 HP:0002111 HP:0002111 Restrictive respiratory insufficiency Phenotypic_abnormality 5 HP:0002118 HP:0002118 Abnormality of the cerebral ventricles Phenotypic_abnormality 5 HP:0002121 HP:0002121 Absence seizures Phenotypic_abnormality 5 HP:0002123 HP:0002123 Generalized myoclonic seizures Phenotypic_abnormality 5 HP:0002127 HP:0002127 Upper motor neuron abnormality Phenotypic_abnormality 5 HP:0002136 HP:0002136 Broad-based gait Phenotypic_abnormality 5 HP:0002138 HP:0002138 Subarachnoid hemorrhage Phenotypic_abnormality 5 HP:0002141 HP:0002141 Gait imbalance Phenotypic_abnormality 5 HP:0002144 HP:0002144 Tethered cord Phenotypic_abnormality 5 HP:0002149 HP:0002149 Hyperuricemia Phenotypic_abnormality 5 HP:0002154 HP:0002154 Hyperglycinemia Phenotypic_abnormality 5 HP:0002161 HP:0002161 Hyperlysinemia Phenotypic_abnormality 5 HP:0002168 HP:0002168 Scanning speech Phenotypic_abnormality 5 HP:0002170 HP:0002170 Intracranial hemorrhage Phenotypic_abnormality 5 HP:0002171 HP:0002171 Gliosis Phenotypic_abnormality 5 HP:0002173 HP:0002173 Hypoglycemic seizures Phenotypic_abnormality 5 HP:0002174 HP:0002174 Postural tremor Phenotypic_abnormality 5 HP:0002176 HP:0002176 Spinal cord compression Phenotypic_abnormality 5 HP:0002180 HP:0002180 Neurodegeneration Phenotypic_abnormality 5 HP:0002187 HP:0002187 Intellectual disability, profound Phenotypic_abnormality 5 HP:0002188 HP:0002188 Delayed CNS myelination Phenotypic_abnormality 5 HP:0002189 HP:0002189 Excessive daytime sleepiness Phenotypic_abnormality 5 HP:0002196 HP:0002196 Myelopathy Phenotypic_abnormality 5 HP:0002199 HP:0002199 Hypocalcemic seizures Phenotypic_abnormality 5 HP:0002202 HP:0002202 Pleural effusion Phenotypic_abnormality 5 HP:0002203 HP:0002203 Respiratory paralysis Phenotypic_abnormality 5 HP:0002208 HP:0002208 Coarse hair Phenotypic_abnormality 5 HP:0002209 HP:0002209 Sparse scalp hair Phenotypic_abnormality 5 HP:0002212 HP:0002212 Curly hair Phenotypic_abnormality 5 HP:0002213 HP:0002213 Fine hair Phenotypic_abnormality 5 HP:0002216 HP:0002216 Premature graying of hair Phenotypic_abnormality 5 HP:0002217 HP:0002217 Slow-growing hair Phenotypic_abnormality 5 HP:0002220 HP:0002220 Melanin pigment aggregation in hair shafts Phenotypic_abnormality 5 HP:0002224 HP:0002224 Woolly hair Phenotypic_abnormality 5 HP:0002226 HP:0002226 White eyebrow Phenotypic_abnormality 5 HP:0002227 HP:0002227 White eyelashes Phenotypic_abnormality 5 HP:0002235 HP:0002235 Pili canaliculi Phenotypic_abnormality 5 HP:0002239 HP:0002239 Gastrointestinal hemorrhage Phenotypic_abnormality 5 HP:0002242 HP:0002242 Abnormality of the intestine Phenotypic_abnormality 5 HP:0002265 HP:0002265 Large fleshy ears Phenotypic_abnormality 5 HP:0002267 HP:0002267 Exaggerated startle response Phenotypic_abnormality 5 HP:0002268 HP:0002268 Paroxysmal dystonia Phenotypic_abnormality 5 HP:0002271 HP:0002271 Autonomic dysregulation Phenotypic_abnormality 5 HP:0002275 HP:0002275 Poor motor coordination Phenotypic_abnormality 5 HP:0002281 HP:0002281 Gray matter heterotopias Phenotypic_abnormality 5 HP:0002282 HP:0002282 Heterotopia Phenotypic_abnormality 5 HP:0002283 HP:0002283 Global brain atrophy Phenotypic_abnormality 5 HP:0002293 HP:0002293 Alopecia of scalp Phenotypic_abnormality 5 HP:0002297 HP:0002297 Red hair Phenotypic_abnormality 5 HP:0002298 HP:0002298 Absent hair Phenotypic_abnormality 5 HP:0002299 HP:0002299 Brittle hair Phenotypic_abnormality 5 HP:0002304 HP:0002304 Akinesia Phenotypic_abnormality 5 HP:0002305 HP:0002305 Athetosis Phenotypic_abnormality 5 HP:0002310 HP:0002310 Orofacial dyskinesia Phenotypic_abnormality 5 HP:0002311 HP:0002311 Incoordination Phenotypic_abnormality 5 HP:0002317 HP:0002317 Unsteady gait Phenotypic_abnormality 5 HP:0002321 HP:0002321 Vertigo Phenotypic_abnormality 5 HP:0002322 HP:0002322 Resting tremor Phenotypic_abnormality 5 HP:0002329 HP:0002329 Drowsiness Phenotypic_abnormality 5 HP:0002342 HP:0002342 Intellectual disability, moderate Phenotypic_abnormality 5 HP:0002345 HP:0002345 Action tremor Phenotypic_abnormality 5 HP:0002346 HP:0002346 Head tremor Phenotypic_abnormality 5 HP:0002349 HP:0002349 Focal seizures without impairment of consciousness or awareness Phenotypic_abnormality 5 HP:0002350 HP:0002350 Cerebellar cyst Phenotypic_abnormality 5 HP:0002354 HP:0002354 Memory impairment Phenotypic_abnormality 5 HP:0002357 HP:0002357 Dysphasia Phenotypic_abnormality 5 HP:0002362 HP:0002362 Shuffling gait Phenotypic_abnormality 5 HP:0002363 HP:0002363 Abnormality of brainstem morphology Phenotypic_abnormality 5 HP:0002367 HP:0002367 Visual hallucinations Phenotypic_abnormality 5 HP:0002371 HP:0002371 Loss of speech Phenotypic_abnormality 5 HP:0002372 HP:0002372 Normal interictal EEG Phenotypic_abnormality 5 HP:0002375 HP:0002375 Hypokinesia Phenotypic_abnormality 5 HP:0002378 HP:0002378 Hand tremor Phenotypic_abnormality 5 HP:0002380 HP:0002380 Fasciculations Phenotypic_abnormality 5 HP:0002381 HP:0002381 Aphasia Phenotypic_abnormality 5 HP:0002383 HP:0002383 Encephalitis Phenotypic_abnormality 5 HP:0002384 HP:0002384 Focal seizures with impairment of consciousness or awareness Phenotypic_abnormality 5 HP:0002394 HP:0002394 Walking on tiptoes Phenotypic_abnormality 5 HP:0002396 HP:0002396 Cogwheel rigidity Phenotypic_abnormality 5 HP:0002398 HP:0002398 Degeneration of anterior horn cells Phenotypic_abnormality 5 HP:0002415 HP:0002415 Leukodystrophy Phenotypic_abnormality 5 HP:0002416 HP:0002416 Subependymal cysts Phenotypic_abnormality 5 HP:0002418 HP:0002418 Abnormality of midbrain morphology Phenotypic_abnormality 5 HP:0002423 HP:0002423 Long-tract signs Phenotypic_abnormality 5 HP:0002425 HP:0002425 Anarthria Phenotypic_abnormality 5 HP:0002435 HP:0002435 Meningocele Phenotypic_abnormality 5 HP:0002442 HP:0002442 Dyscalculia Phenotypic_abnormality 5 HP:0002446 HP:0002446 Astrocytosis Phenotypic_abnormality 5 HP:0002451 HP:0002451 Limb dystonia Phenotypic_abnormality 5 HP:0002459 HP:0002459 Dysautonomia Phenotypic_abnormality 5 HP:0002463 HP:0002463 Language impairment Phenotypic_abnormality 5 HP:0002465 HP:0002465 Poor speech Phenotypic_abnormality 5 HP:0002488 HP:0002488 Acute leukemia Phenotypic_abnormality 5 HP:0002490 HP:0002490 Increased CSF lactate Phenotypic_abnormality 5 HP:0002492 HP:0002492 Abnormality of the corticospinal tract Phenotypic_abnormality 5 HP:0002493 HP:0002493 Corticospinal tract dysfunction Phenotypic_abnormality 5 HP:0002494 HP:0002494 Abnormal rapid eye movement (REM) sleep Phenotypic_abnormality 5 HP:0002504 HP:0002504 Calcification of the small brain vessels Phenotypic_abnormality 5 HP:0002509 HP:0002509 Limb hypertonia Phenotypic_abnormality 5 HP:0002515 HP:0002515 Waddling gait Phenotypic_abnormality 5 HP:0002519 HP:0002519 Hypnagogic hallucinations Phenotypic_abnormality 5 HP:0002522 HP:0002522 Areflexia of lower limbs Phenotypic_abnormality 5 HP:0002526 HP:0002526 Deficit in nonword repetition Phenotypic_abnormality 5 HP:0002527 HP:0002527 Falls Phenotypic_abnormality 5 HP:0002529 HP:0002529 Neuronal loss in central nervous system Phenotypic_abnormality 5 HP:0002530 HP:0002530 Axial dystonia Phenotypic_abnormality 5 HP:0002536 HP:0002536 Abnormal cortical gyration Phenotypic_abnormality 5 HP:0002540 HP:0002540 Inability to walk Phenotypic_abnormality 5 HP:0002546 HP:0002546 Incomprehensible speech Phenotypic_abnormality 5 HP:0002572 HP:0002572 Episodic vomiting Phenotypic_abnormality 5 HP:0002577 HP:0002577 Abnormality of the stomach Phenotypic_abnormality 5 HP:0002579 HP:0002579 Gastrointestinal dysmotility Phenotypic_abnormality 5 HP:0002587 HP:0002587 Projectile vomiting Phenotypic_abnormality 5 HP:0002589 HP:0002589 Gastrointestinal atresia Phenotypic_abnormality 5 HP:0002591 HP:0002591 Polyphagia Phenotypic_abnormality 5 HP:0002599 HP:0002599 Head titubation Phenotypic_abnormality 5 HP:0002600 HP:0002600 Hyporeflexia of lower limbs Phenotypic_abnormality 5 HP:0002601 HP:0002601 Paresis of extensor muscles of the big toe Phenotypic_abnormality 5 HP:0002612 HP:0002612 Congenital hepatic fibrosis Phenotypic_abnormality 5 HP:0002614 HP:0002614 Hepatic periportal necrosis Phenotypic_abnormality 5 HP:0002619 HP:0002619 Varicose veins Phenotypic_abnormality 5 HP:0002623 HP:0002623 Overriding aorta Phenotypic_abnormality 5 HP:0002635 HP:0002635 Atheromatosis Phenotypic_abnormality 5 HP:0002638 HP:0002638 Superficial thrombophlebitis Phenotypic_abnormality 5 HP:0002643 HP:0002643 Neonatal respiratory distress Phenotypic_abnormality 5 HP:0002647 HP:0002647 Aortic dissection Phenotypic_abnormality 5 HP:0002663 HP:0002663 Delayed epiphyseal ossification Phenotypic_abnormality 5 HP:0002679 HP:0002679 Abnormality of the sella turcica Phenotypic_abnormality 5 HP:0002683 HP:0002683 Abnormality of the calvaria Phenotypic_abnormality 5 HP:0002693 HP:0002693 Abnormality of the skull base Phenotypic_abnormality 5 HP:0002699 HP:0002699 Abnormality of the foramen magnum Phenotypic_abnormality 5 HP:0002703 HP:0002703 Abnormality of skull ossification Phenotypic_abnormality 5 HP:0002724 HP:0002724 Recurrent Aspergillus infections Phenotypic_abnormality 5 HP:0002728 HP:0002728 Chronic mucocutaneous candidiasis Phenotypic_abnormality 5 HP:0002729 HP:0002729 Follicular hyperplasia Phenotypic_abnormality 5 HP:0002730 HP:0002730 Chronic noninfectious lymphadenopathy Phenotypic_abnormality 5 HP:0002731 HP:0002731 Defective lymphocyte apoptosis Phenotypic_abnormality 5 HP:0002743 HP:0002743 Recurrent enteroviral infections Phenotypic_abnormality 5 HP:0002747 HP:0002747 Respiratory insufficiency due to muscle weakness Phenotypic_abnormality 5 HP:0002752 HP:0002752 Sparse bone trabeculae Phenotypic_abnormality 5 HP:0002753 HP:0002753 Thin bony cortex Phenotypic_abnormality 5 HP:0002758 HP:0002758 Osteoarthritis Phenotypic_abnormality 5 HP:0002762 HP:0002762 Multiple exostoses Phenotypic_abnormality 5 HP:0002778 HP:0002778 Abnormality of the trachea Phenotypic_abnormality 5 HP:0002805 HP:0002805 Accelerated bone age after puberty Phenotypic_abnormality 5 HP:0002814 HP:0002814 Abnormality of the lower limb Phenotypic_abnormality 5 HP:0002817 HP:0002817 Abnormality of the upper limb Phenotypic_abnormality 5 HP:0002821 HP:0002821 Neuropathic arthropathy Phenotypic_abnormality 5 HP:0002826 HP:0002826 Halberd-shaped pelvis Phenotypic_abnormality 5 HP:0002827 HP:0002827 Hip dislocation Phenotypic_abnormality 5 HP:0002833 HP:0002833 Cystic angiomatosis of bone Phenotypic_abnormality 5 HP:0002843 HP:0002843 Abnormality of T cells Phenotypic_abnormality 5 HP:0002846 HP:0002846 Abnormality of B cells Phenotypic_abnormality 5 HP:0002871 HP:0002871 Central apnea Phenotypic_abnormality 5 HP:0002872 HP:0002872 Apneic episodes precipitated by illness, fatigue, stress Phenotypic_abnormality 5 HP:0002876 HP:0002876 Episodic tachypnea Phenotypic_abnormality 5 HP:0002877 HP:0002877 Nocturnal hypoventilation Phenotypic_abnormality 5 HP:0002878 HP:0002878 Respiratory failure Phenotypic_abnormality 5 HP:0002882 HP:0002882 Sudden episodic apnea Phenotypic_abnormality 5 HP:0002890 HP:0002890 Thyroid carcinoma Phenotypic_abnormality 5 HP:0002891 HP:0002891 Uterine leiomyosarcoma Phenotypic_abnormality 5 HP:0002897 HP:0002897 Parathyroid adenoma Phenotypic_abnormality 5 HP:0002913 HP:0002913 Myoglobinuria Phenotypic_abnormality 5 HP:0002922 HP:0002922 Increased CSF protein Phenotypic_abnormality 5 HP:0002928 HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex Phenotypic_abnormality 5 HP:0002933 HP:0002933 Ventral hernia Phenotypic_abnormality 5 HP:0002946 HP:0002946 Supernumerary vertebrae Phenotypic_abnormality 5 HP:0002971 HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes Phenotypic_abnormality 5 HP:0003034 HP:0003034 Diaphyseal sclerosis Phenotypic_abnormality 5 HP:0003038 HP:0003038 Fibular hypoplasia Phenotypic_abnormality 5 HP:0003053 HP:0003053 Epiphyseal deformities of tubular bones Phenotypic_abnormality 5 HP:0003071 HP:0003071 Flattened epiphyses Phenotypic_abnormality 5 HP:0003074 HP:0003074 Hyperglycemia Phenotypic_abnormality 5 HP:0003095 HP:0003095 Septic arthritis Phenotypic_abnormality 5 HP:0003106 HP:0003106 Subperiosteal erosions due to secondary hyperparathyroidism Phenotypic_abnormality 5 HP:0003118 HP:0003118 Increased circulating cortisol level Phenotypic_abnormality 5 HP:0003125 HP:0003125 Reduced factor VIII activity Phenotypic_abnormality 5 HP:0003133 HP:0003133 Abnormality of the spinocerebellar tracts Phenotypic_abnormality 5 HP:0003142 HP:0003142 Excessive purine production Phenotypic_abnormality 5 HP:0003145 HP:0003145 Decreased adenosylcobalamin Phenotypic_abnormality 5 HP:0003149 HP:0003149 Hyperuricosuria Phenotypic_abnormality 5 HP:0003153 HP:0003153 Cystathioninuria Phenotypic_abnormality 5 HP:0003158 HP:0003158 Hyposthenuria Phenotypic_abnormality 5 HP:0003193 HP:0003193 Allergic rhinitis Phenotypic_abnormality 5 HP:0003217 HP:0003217 Hyperglutaminemia Phenotypic_abnormality 5 HP:0003223 HP:0003223 Decreased methylcobalamin Phenotypic_abnormality 5 HP:0003225 HP:0003225 Reduced factor V activity Phenotypic_abnormality 5 HP:0003232 HP:0003232 Mitochondrial malic enzyme reduced Phenotypic_abnormality 5 HP:0003234 HP:0003234 Decreased plasma carnitine Phenotypic_abnormality 5 HP:0003239 HP:0003239 Phosphoethanolaminuria Phenotypic_abnormality 5 HP:0003241 HP:0003241 External genital hypoplasia Phenotypic_abnormality 5 HP:0003247 HP:0003247 Overgrowth of external genitalia Phenotypic_abnormality 5 HP:0003272 HP:0003272 Abnormality of the hip bone Phenotypic_abnormality 5 HP:0003275 HP:0003275 Narrow pelvis Phenotypic_abnormality 5 HP:0003276 HP:0003276 Pelvic exostoses Phenotypic_abnormality 5 HP:0003278 HP:0003278 Square pelvis Phenotypic_abnormality 5 HP:0003286 HP:0003286 Cystathioninemia Phenotypic_abnormality 5 HP:0003288 HP:0003288 Mitochondrial propionyl-CoA carboxylase (PCC) defect Phenotypic_abnormality 5 HP:0003302 HP:0003302 Spondylolisthesis Phenotypic_abnormality 5 HP:0003304 HP:0003304 Spondylolysis Phenotypic_abnormality 5 HP:0003306 HP:0003306 Spinal rigidity Phenotypic_abnormality 5 HP:0003310 HP:0003310 Abnormality of the odontoid process Phenotypic_abnormality 5 HP:0003319 HP:0003319 Abnormality of the cervical spine Phenotypic_abnormality 5 HP:0003329 HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes Phenotypic_abnormality 5 HP:0003336 HP:0003336 Abnormal enchondral ossification Phenotypic_abnormality 5 HP:0003337 HP:0003337 Reduced prothrombin consumption Phenotypic_abnormality 5 HP:0003347 HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin Phenotypic_abnormality 5 HP:0003348 HP:0003348 Hyperalaninemia Phenotypic_abnormality 5 HP:0003354 HP:0003354 Hyperthreoninemia Phenotypic_abnormality 5 HP:0003358 HP:0003358 Elevated intracellular cystine Phenotypic_abnormality 5 HP:0003359 HP:0003359 Decreased urinary sulfate Phenotypic_abnormality 5 HP:0003376 HP:0003376 Steppage gait Phenotypic_abnormality 5 HP:0003378 HP:0003378 Axonal degeneration/regeneration Phenotypic_abnormality 5 HP:0003380 HP:0003380 Decreased number of peripheral myelinated nerve fibers Phenotypic_abnormality 5 HP:0003383 HP:0003383 Onion bulb formation Phenotypic_abnormality 5 HP:0003384 HP:0003384 Peripheral axonal atrophy Phenotypic_abnormality 5 HP:0003391 HP:0003391 Gowers sign Phenotypic_abnormality 5 HP:0003392 HP:0003392 First dorsal interossei muscle weakness Phenotypic_abnormality 5 HP:0003397 HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction Phenotypic_abnormality 5 HP:0003402 HP:0003402 Decreased miniature endplate potentials Phenotypic_abnormality 5 HP:0003413 HP:0003413 Atlantoaxial abnormality Phenotypic_abnormality 5 HP:0003416 HP:0003416 Spinal canal stenosis Phenotypic_abnormality 5 HP:0003418 HP:0003418 Back pain Phenotypic_abnormality 5 HP:0003427 HP:0003427 Thenar muscle weakness Phenotypic_abnormality 5 HP:0003429 HP:0003429 CNS hypomyelination Phenotypic_abnormality 5 HP:0003431 HP:0003431 Decreased motor nerve conduction velocity Phenotypic_abnormality 5 HP:0003435 HP:0003435 Cold-induced hand cramps Phenotypic_abnormality 5 HP:0003436 HP:0003436 Prolonged miniature endplate currents Phenotypic_abnormality 5 HP:0003444 HP:0003444 EMG: chronic denervation signs Phenotypic_abnormality 5 HP:0003447 HP:0003447 Axonal loss Phenotypic_abnormality 5 HP:0003448 HP:0003448 Decreased sensory nerve conduction velocity Phenotypic_abnormality 5 HP:0003450 HP:0003450 Axonal regeneration Phenotypic_abnormality 5 HP:0003455 HP:0003455 Elevated long chain fatty acids Phenotypic_abnormality 5 HP:0003466 HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test Phenotypic_abnormality 5 HP:0003468 HP:0003468 Abnormality of the vertebrae Phenotypic_abnormality 5 HP:0003469 HP:0003469 Peripheral dysmyelination Phenotypic_abnormality 5 HP:0003474 HP:0003474 Sensory impairment Phenotypic_abnormality 5 HP:0003477 HP:0003477 Peripheral axonal neuropathy Phenotypic_abnormality 5 HP:0003484 HP:0003484 Upper limb muscle weakness Phenotypic_abnormality 5 HP:0003487 HP:0003487 Babinski sign Phenotypic_abnormality 5 HP:0003489 HP:0003489 Acute episodes of neuropathic symptoms Phenotypic_abnormality 5 HP:0003491 HP:0003491 Elevated urine pyrophosphate Phenotypic_abnormality 5 HP:0003502 HP:0003502 Mild short stature Phenotypic_abnormality 5 HP:0003510 HP:0003510 Severe short stature Phenotypic_abnormality 5 HP:0003514 HP:0003514 Deficiency or absence of cytochrome b(-245) Phenotypic_abnormality 5 HP:0003526 HP:0003526 Orotic acid crystalluria Phenotypic_abnormality 5 HP:0003529 HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption Phenotypic_abnormality 5 HP:0003534 HP:0003534 Reduced xanthine dehydrogenase activity Phenotypic_abnormality 5 HP:0003535 HP:0003535 3-Methylglutaconic aciduria Phenotypic_abnormality 5 HP:0003537 HP:0003537 Hypouricemia Phenotypic_abnormality 5 HP:0003538 HP:0003538 Increased serum iduronate sulfatase activity Phenotypic_abnormality 5 HP:0003541 HP:0003541 Urinary glycosaminoglycan excretion Phenotypic_abnormality 5 HP:0003547 HP:0003547 Shoulder girdle muscle weakness Phenotypic_abnormality 5 HP:0003550 HP:0003550 Predominantly lower limb lymphedema Phenotypic_abnormality 5 HP:0003554 HP:0003554 Type 2 muscle fiber atrophy Phenotypic_abnormality 5 HP:0003557 HP:0003557 Increased variability in muscle fiber diameter Phenotypic_abnormality 5 HP:0003572 HP:0003572 Low plasma citrulline Phenotypic_abnormality 5 HP:0003574 HP:0003574 Positive regitine blocking test Phenotypic_abnormality 5 HP:0003606 HP:0003606 Absent urinary urothione Phenotypic_abnormality 5 HP:0003614 HP:0003614 Trimethylaminuria Phenotypic_abnormality 5 HP:0003616 HP:0003616 Premature separation of centromeric heterochromatin Phenotypic_abnormality 5 HP:0003634 HP:0003634 Generalized amyoplasia Phenotypic_abnormality 5 HP:0003635 HP:0003635 Loss of subcutaneous adipose tissue in limbs Phenotypic_abnormality 5 HP:0003641 HP:0003641 Hemoglobinuria Phenotypic_abnormality 5 HP:0003643 HP:0003643 Sulfite oxidase deficiency Phenotypic_abnormality 5 HP:0003647 HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect Phenotypic_abnormality 5 HP:0003648 HP:0003648 Lacticaciduria Phenotypic_abnormality 5 HP:0003651 HP:0003651 Foam cells Phenotypic_abnormality 5 HP:0003658 HP:0003658 Hypomethioninemia Phenotypic_abnormality 5 HP:0003665 HP:0003665 Amyotrophy of the musculature of the pelvis Phenotypic_abnormality 5 HP:0003694 HP:0003694 Late-onset proximal muscle weakness Phenotypic_abnormality 5 HP:0003719 HP:0003719 Muscle mounding Phenotypic_abnormality 5 HP:0003722 HP:0003722 Neck flexor weakness Phenotypic_abnormality 5 HP:0003724 HP:0003724 Shoulder girdle muscle atrophy Phenotypic_abnormality 5 HP:0003733 HP:0003733 Thigh hypertrophy Phenotypic_abnormality 5 HP:0003752 HP:0003752 Episodic flaccid weakness Phenotypic_abnormality 5 HP:0003755 HP:0003755 Type 1 fibers relatively smaller than type 2 fibers Phenotypic_abnormality 5 HP:0003760 HP:0003760 Percussion-induced rapid rolling muscle contractions (PIRC) Phenotypic_abnormality 5 HP:0003763 HP:0003763 Bruxism Phenotypic_abnormality 5 HP:0003768 HP:0003768 Periodic paralysis Phenotypic_abnormality 5 HP:0003777 HP:0003777 Pili torti Phenotypic_abnormality 5 HP:0003784 HP:0003784 Type 1 collagen overmodification Phenotypic_abnormality 5 HP:0003785 HP:0003785 Decreased CSF homovanillic acid (HVA) Phenotypic_abnormality 5 HP:0003787 HP:0003787 Type 1 and type 2 muscle fiber minicore regions Phenotypic_abnormality 5 HP:0003799 HP:0003799 Marked delay in bone age Phenotypic_abnormality 5 HP:0003810 HP:0003810 Late-onset distal muscle weakness Phenotypic_abnormality 5 HP:0003882 HP:0003882 Slender humerus Phenotypic_abnormality 5 HP:0003960 HP:0003960 Exostoses of the forearm bones Phenotypic_abnormality 5 HP:0003973 HP:0003973 Wide radioulnar joints Phenotypic_abnormality 5 HP:0003992 HP:0003992 Slender ulna Phenotypic_abnormality 5 HP:0003994 HP:0003994 Dislocated wrist Phenotypic_abnormality 5 HP:0004043 HP:0004043 Lytic defects of ulnar metaphysis Phenotypic_abnormality 5 HP:0004230 HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger Phenotypic_abnormality 5 HP:0004276 HP:0004276 Exostoses of hand bones Phenotypic_abnormality 5 HP:0004296 HP:0004296 Abnormality of gastrointestinal vasculature Phenotypic_abnormality 5 HP:0004309 HP:0004309 Ventricular preexcitation Phenotypic_abnormality 5 HP:0004311 HP:0004311 Abnormality of macrophages Phenotypic_abnormality 5 HP:0004326 HP:0004326 Cachexia Phenotypic_abnormality 5 HP:0004327 HP:0004327 Abnormality of the vitreous humor Phenotypic_abnormality 5 HP:0004331 HP:0004331 Decreased skull ossification Phenotypic_abnormality 5 HP:0004334 HP:0004334 Dermal atrophy Phenotypic_abnormality 5 HP:0004336 HP:0004336 Myelin outfoldings Phenotypic_abnormality 5 HP:0004343 HP:0004343 Abnormality of glycosphingolipid metabolism Phenotypic_abnormality 5 HP:0004349 HP:0004349 Reduced bone mineral density Phenotypic_abnormality 5 HP:0004357 HP:0004357 Abnormality of leucine metabolism Phenotypic_abnormality 5 HP:0004362 HP:0004362 Abnormality of the enteric ganglia Phenotypic_abnormality 5 HP:0004363 HP:0004363 Abnormality of calcium homeostasis Phenotypic_abnormality 5 HP:0004365 HP:0004365 Abnormality of tryptophan metabolism Phenotypic_abnormality 5 HP:0004373 HP:0004373 Focal dystonia Phenotypic_abnormality 5 HP:0004383 HP:0004383 Hypoplastic left heart Phenotypic_abnormality 5 HP:0004386 HP:0004386 Gastrointestinal inflammation Phenotypic_abnormality 5 HP:0004398 HP:0004398 Peptic ulcer Phenotypic_abnormality 5 HP:0004415 HP:0004415 Pulmonary artery stenosis Phenotypic_abnormality 5 HP:0004416 HP:0004416 Precocious atherosclerosis Phenotypic_abnormality 5 HP:0004417 HP:0004417 Intermittent claudication Phenotypic_abnormality 5 HP:0004419 HP:0004419 Recurrent thrombophlebitis Phenotypic_abnormality 5 HP:0004425 HP:0004425 Flat forehead Phenotypic_abnormality 5 HP:0004426 HP:0004426 Abnormality of the cheeks Phenotypic_abnormality 5 HP:0004428 HP:0004428 Elfin facies Phenotypic_abnormality 5 HP:0004430 HP:0004430 Severe combined immunodeficiency Phenotypic_abnormality 5 HP:0004431 HP:0004431 Complement deficiency Phenotypic_abnormality 5 HP:0004458 HP:0004458 Dilatated internal auditory canal Phenotypic_abnormality 5 HP:0004461 HP:0004461 Congenital earlobe sinuses Phenotypic_abnormality 5 HP:0004463 HP:0004463 Absent brainstem auditory responses Phenotypic_abnormality 5 HP:0004466 HP:0004466 Prolonged brainstem auditory evoked potentials Phenotypic_abnormality 5 HP:0004552 HP:0004552 Scarring alopecia of scalp Phenotypic_abnormality 5 HP:0004673 HP:0004673 Decreased facial expression Phenotypic_abnormality 5 HP:0004755 HP:0004755 Supraventricular tachycardia Phenotypic_abnormality 5 HP:0004756 HP:0004756 Ventricular tachycardia Phenotypic_abnormality 5 HP:0004760 HP:0004760 Congenital septal defect Phenotypic_abnormality 5 HP:0004787 HP:0004787 Fulminant hepatitis Phenotypic_abnormality 5 HP:0004788 HP:0004788 Intestinal lymphedema Phenotypic_abnormality 5 HP:0004796 HP:0004796 Gastrointestinal obstruction Phenotypic_abnormality 5 HP:0004809 HP:0004809 Neonatal alloimmune thrombocytopenia Phenotypic_abnormality 5 HP:0004813 HP:0004813 Post-transfusion thrombocytopenia Phenotypic_abnormality 5 HP:0004822 HP:0004822 Atypical elliptocytosis Phenotypic_abnormality 5 HP:0004835 HP:0004835 Microspherocytosis Phenotypic_abnormality 5 HP:0004841 HP:0004841 Reduced factor XII activity Phenotypic_abnormality 5 HP:0004850 HP:0004850 Recurrent deep vein thrombosis Phenotypic_abnormality 5 HP:0004852 HP:0004852 Reduced leukocyte alkaline phosphatase Phenotypic_abnormality 5 HP:0004854 HP:0004854 Intermittent thrombocytopenia Phenotypic_abnormality 5 HP:0004859 HP:0004859 Amegakaryocytic thrombocytopenia Phenotypic_abnormality 5 HP:0004866 HP:0004866 Impaired ADP-induced platelet aggregation Phenotypic_abnormality 5 HP:0004872 HP:0004872 Incisional hernia Phenotypic_abnormality 5 HP:0004875 HP:0004875 Neonatal inspiratory stridor Phenotypic_abnormality 5 HP:0004878 HP:0004878 Intercostal muscle weakness Phenotypic_abnormality 5 HP:0004879 HP:0004879 intermittent hyperventilation Phenotypic_abnormality 5 HP:0004881 HP:0004881 Episodic hypoventilation Phenotypic_abnormality 5 HP:0004886 HP:0004886 Congenital laryngeal stridor Phenotypic_abnormality 5 HP:0004887 HP:0004887 Respiratory failure requiring assisted ventilation Phenotypic_abnormality 5 HP:0004890 HP:0004890 Elevated pulmonary artery pressure Phenotypic_abnormality 5 HP:0004897 HP:0004897 Stress/infection-induced lactic acidosis Phenotypic_abnormality 5 HP:0004898 HP:0004898 Persistent lactic acidosis Phenotypic_abnormality 5 HP:0004900 HP:0004900 Severe lactic acidosis Phenotypic_abnormality 5 HP:0004901 HP:0004901 Exercise-induced lactic acidemia Phenotypic_abnormality 5 HP:0004902 HP:0004902 Congenital lactic acidosis Phenotypic_abnormality 5 HP:0004904 HP:0004904 Maturity-onset diabetes of the young Phenotypic_abnormality 5 HP:0004906 HP:0004906 hypernatremic dehydration Phenotypic_abnormality 5 HP:0004911 HP:0004911 Episodic metabolic acidosis Phenotypic_abnormality 5 HP:0004912 HP:0004912 Hypophosphatemic rickets Phenotypic_abnormality 5 HP:0004913 HP:0004913 Intermittent lactic acidemia Phenotypic_abnormality 5 HP:0004918 HP:0004918 hyperchloremic metabolic acidosis Phenotypic_abnormality 5 HP:0004921 HP:0004921 Abnormality of magnesium homeostasis Phenotypic_abnormality 5 HP:0004924 HP:0004924 Abnormal oral glucose tolerance Phenotypic_abnormality 5 HP:0004925 HP:0004925 Chronic lactic acidosis Phenotypic_abnormality 5 HP:0004927 HP:0004927 Pulmonary artery dilatation Phenotypic_abnormality 5 HP:0004935 HP:0004935 Pulmonary artery atresia Phenotypic_abnormality 5 HP:0004937 HP:0004937 Pulmonary artery aneurysm Phenotypic_abnormality 5 HP:0004938 HP:0004938 Tortuous cerebral arteries Phenotypic_abnormality 5 HP:0004943 HP:0004943 Accelerated atherosclerosis Phenotypic_abnormality 5 HP:0004945 HP:0004945 Extracranial internal carotid artery dissection Phenotypic_abnormality 5 HP:0004952 HP:0004952 Pulmonary arteriovenous fistulas Phenotypic_abnormality 5 HP:0004955 HP:0004955 Generalized arterial tortuosity Phenotypic_abnormality 5 HP:0004960 HP:0004960 Absent pulmonary artery Phenotypic_abnormality 5 HP:0004961 HP:0004961 Pulmonary artery sling Phenotypic_abnormality 5 HP:0004963 HP:0004963 Calcification of the aorta Phenotypic_abnormality 5 HP:0004964 HP:0004964 Pulmonary arterial medial hypertrophy Phenotypic_abnormality 5 HP:0004971 HP:0004971 Pulmonary artery hypoplasia Phenotypic_abnormality 5 HP:0004976 HP:0004976 Knee dislocation Phenotypic_abnormality 5 HP:0004990 HP:0004990 Epiphyseal streaking Phenotypic_abnormality 5 HP:0004993 HP:0004993 Slender long bones with narrow diaphyses Phenotypic_abnormality 5 HP:0005008 HP:0005008 Large joint dislocations Phenotypic_abnormality 5 HP:0005017 HP:0005017 polyarticular chondrocalcinosis Phenotypic_abnormality 5 HP:0005019 HP:0005019 Diaphyseal thickening Phenotypic_abnormality 5 HP:0005059 HP:0005059 arthralgia/arthritis Phenotypic_abnormality 5 HP:0005099 HP:0005099 Severe hydrops fetalis Phenotypic_abnormality 5 HP:0005102 HP:0005102 Cochlear degeneration Phenotypic_abnormality 5 HP:0005105 HP:0005105 Abnormal nasal morphology Phenotypic_abnormality 5 HP:0005107 HP:0005107 Abnormality of the sacrum Phenotypic_abnormality 5 HP:0005108 HP:0005108 Abnormality of the intervertebral disk Phenotypic_abnormality 5 HP:0005132 HP:0005132 Pericardial constriction Phenotypic_abnormality 5 HP:0005147 HP:0005147 Bidirectional ventricular ectopy Phenotypic_abnormality 5 HP:0005155 HP:0005155 Ventricular escape rhythms Phenotypic_abnormality 5 HP:0005156 HP:0005156 Hypoplastic left atrium Phenotypic_abnormality 5 HP:0005168 HP:0005168 Elevated right atrial pressure Phenotypic_abnormality 5 HP:0005183 HP:0005183 Pericardial lymphangiectasia Phenotypic_abnormality 5 HP:0005184 HP:0005184 Prolonged QTc interval Phenotypic_abnormality 5 HP:0005185 HP:0005185 Global systolic dysfunction Phenotypic_abnormality 5 HP:0005186 HP:0005186 Synovial hypertrophy Phenotypic_abnormality 5 HP:0005195 HP:0005195 Polyarticular arthropathy Phenotypic_abnormality 5 HP:0005199 HP:0005199 Aplasia of the abdominal wall musculature Phenotypic_abnormality 5 HP:0005201 HP:0005201 Anomalous splenoportal venous system Phenotypic_abnormality 5 HP:0005206 HP:0005206 Pancreatic pseudocyst Phenotypic_abnormality 5 HP:0005220 HP:0005220 Multiple intestinal neurofibromatosis Phenotypic_abnormality 5 HP:0005224 HP:0005224 Rectal abscess Phenotypic_abnormality 5 HP:0005232 HP:0005232 Pancreatic dysplasia Phenotypic_abnormality 5 HP:0005243 HP:0005243 Partial abdominal muscle agenesis Phenotypic_abnormality 5 HP:0005244 HP:0005244 Gastrointestinal infarctions Phenotypic_abnormality 5 HP:0005247 HP:0005247 Hypoplasia of the abdominal wall musculature Phenotypic_abnormality 5 HP:0005257 HP:0005257 Thoracic hypoplasia Phenotypic_abnormality 5 HP:0005264 HP:0005264 Abnormality of the gallbladder Phenotypic_abnormality 5 HP:0005266 HP:0005266 Intestinal polyp Phenotypic_abnormality 5 HP:0005288 HP:0005288 Abnormality of the nares Phenotypic_abnormality 5 HP:0005289 HP:0005289 Abnormality of the nasolabial region Phenotypic_abnormality 5 HP:0005290 HP:0005290 Internal carotid artery hypoplasia Phenotypic_abnormality 5 HP:0005292 HP:0005292 Intimal thickening in the coronary arteries Phenotypic_abnormality 5 HP:0005302 HP:0005302 Carotid artery tortuosity Phenotypic_abnormality 5 HP:0005306 HP:0005306 Capillary hemangiomas Phenotypic_abnormality 5 HP:0005308 HP:0005308 Pulmonary artery vasoconstriction Phenotypic_abnormality 5 HP:0005312 HP:0005312 Pulmonary aterial intimal fibrosis Phenotypic_abnormality 5 HP:0005314 HP:0005314 Anomalous branches of internal carotid artery Phenotypic_abnormality 5 HP:0005320 HP:0005320 Lack of facial subcutaneous fat Phenotypic_abnormality 5 HP:0005324 HP:0005324 Disturbance of facial expression Phenotypic_abnormality 5 HP:0005328 HP:0005328 Progeroid facial appearance Phenotypic_abnormality 5 HP:0005352 HP:0005352 Severe T-cell immunodeficiency Phenotypic_abnormality 5 HP:0005353 HP:0005353 Susceptibility to herpesvirus Phenotypic_abnormality 5 HP:0005359 HP:0005359 Aplasia of the thymus Phenotypic_abnormality 5 HP:0005360 HP:0005360 Susceptibility to chickenpox Phenotypic_abnormality 5 HP:0005364 HP:0005364 Severe viral infections Phenotypic_abnormality 5 HP:0005375 HP:0005375 Partial cellular immunodeficiency Phenotypic_abnormality 5 HP:0005396 HP:0005396 Susceptibility to coronavirus 229e Phenotypic_abnormality 5 HP:0005401 HP:0005401 Recurrent candida infections Phenotypic_abnormality 5 HP:0005406 HP:0005406 Recurrent bacterial skin infections Phenotypic_abnormality 5 HP:0005420 HP:0005420 Recurrent gram-negative bacterial infections Phenotypic_abnormality 5 HP:0005428 HP:0005428 Severe recurrent varicella Phenotypic_abnormality 5 HP:0005429 HP:0005429 Recurrent systemic pyogenic infections Phenotypic_abnormality 5 HP:0005461 HP:0005461 Craniofacial disproportion Phenotypic_abnormality 5 HP:0005473 HP:0005473 Fusion of middle ear ossicles Phenotypic_abnormality 5 HP:0005482 HP:0005482 Abnormality of the alternate complement pathway Phenotypic_abnormality 5 HP:0005483 HP:0005483 Abnormality of the epiglottis Phenotypic_abnormality 5 HP:0005508 HP:0005508 Waldenstrom macroglobulinemia Phenotypic_abnormality 5 HP:0005526 HP:0005526 Lymphoid leukemia Phenotypic_abnormality 5 HP:0005547 HP:0005547 Myeloproliferative disorder Phenotypic_abnormality 5 HP:0005556 HP:0005556 Abnormality of the metopic suture Phenotypic_abnormality 5 HP:0005557 HP:0005557 Abnormality of the zygomatic arch Phenotypic_abnormality 5 HP:0005558 HP:0005558 Chronic leukemia Phenotypic_abnormality 5 HP:0005599 HP:0005599 Hypopigmentation of hair Phenotypic_abnormality 5 HP:0005652 HP:0005652 Cortical sclerosis Phenotypic_abnormality 5 HP:0005731 HP:0005731 Cortical irregularity Phenotypic_abnormality 5 HP:0005736 HP:0005736 Short tibia Phenotypic_abnormality 5 HP:0005743 HP:0005743 Avascular necrosis of the capital femoral epiphysis Phenotypic_abnormality 5 HP:0005791 HP:0005791 Cortical thickening of long bone diaphyses Phenotypic_abnormality 5 HP:0005815 HP:0005815 Supernumerary ribs Phenotypic_abnormality 5 HP:0005828 HP:0005828 Transient pulmonary infiltrates Phenotypic_abnormality 5 HP:0005832 HP:0005832 Dysharmonic delayed bone age Phenotypic_abnormality 5 HP:0005833 HP:0005833 Joint swelling onset late infancy Phenotypic_abnormality 5 HP:0005837 HP:0005837 Joint dislocations in young adult Phenotypic_abnormality 5 HP:0005881 HP:0005881 Spinal instability Phenotypic_abnormality 5 HP:0005926 HP:0005926 Abnormalities of the cortex of hand bones Phenotypic_abnormality 5 HP:0005939 HP:0005939 Multiple bilateral pneumothoraces Phenotypic_abnormality 5 HP:0005942 HP:0005942 Desquamative interstitial pneumonitis Phenotypic_abnormality 5 HP:0005943 HP:0005943 Respiratory arrest Phenotypic_abnormality 5 HP:0005944 HP:0005944 Bilateral lung agenesis Phenotypic_abnormality 5 HP:0005945 HP:0005945 Laryngeal obstruction Phenotypic_abnormality 5 HP:0005949 HP:0005949 Apneic episodes in infancy Phenotypic_abnormality 5 HP:0005950 HP:0005950 Laryngeal web Phenotypic_abnormality 5 HP:0005951 HP:0005951 Progressive inspiratory stridor Phenotypic_abnormality 5 HP:0005956 HP:0005956 Anteroposteriorly shortened larynx Phenotypic_abnormality 5 HP:0005967 HP:0005967 Mixed respiratory and metabolic acidosis Phenotypic_abnormality 5 HP:0005974 HP:0005974 Episodic ketoacidosis Phenotypic_abnormality 5 HP:0005976 HP:0005976 Hyperkalemic metabolic acidosis Phenotypic_abnormality 5 HP:0005978 HP:0005978 Type II diabetes mellitus Phenotypic_abnormality 5 HP:0005979 HP:0005979 Metabolic ketoacidosis Phenotypic_abnormality 5 HP:0005990 HP:0005990 Thyroid hypoplasia Phenotypic_abnormality 5 HP:0005994 HP:0005994 Nodular goiter Phenotypic_abnormality 5 HP:0005999 HP:0005999 Ureteral atresia Phenotypic_abnormality 5 HP:0006000 HP:0006000 Ureteral obstruction Phenotypic_abnormality 5 HP:0006089 HP:0006089 Palmar hyperhidrosis Phenotypic_abnormality 5 HP:0006121 HP:0006121 Acral ulceration leading to autoamputation of digits Phenotypic_abnormality 5 HP:0006247 HP:0006247 Enlarged interphalangeal joints Phenotypic_abnormality 5 HP:0006266 HP:0006266 Small placenta Phenotypic_abnormality 5 HP:0006267 HP:0006267 Large placenta Phenotypic_abnormality 5 HP:0006268 HP:0006268 Fluctuating splenomegaly Phenotypic_abnormality 5 HP:0006270 HP:0006270 Hypoplastic spleen Phenotypic_abnormality 5 HP:0006273 HP:0006273 Pancreatic lymphangiectasis Phenotypic_abnormality 5 HP:0006276 HP:0006276 Hyperechogenic pancreas Phenotypic_abnormality 5 HP:0006278 HP:0006278 Ectopic pancreatic tissue Phenotypic_abnormality 5 HP:0006504 HP:0006504 Anomaly of the limb diaphyses Phenotypic_abnormality 5 HP:0006505 HP:0006505 Abnormality involving the epiphyses of the limbs Phenotypic_abnormality 5 HP:0006510 HP:0006510 Chronic obstructive pulmonary disease Phenotypic_abnormality 5 HP:0006511 HP:0006511 Laryngeal stridor Phenotypic_abnormality 5 HP:0006515 HP:0006515 Interstitial pneumonitis Phenotypic_abnormality 5 HP:0006521 HP:0006521 Pulmonary lymphangiectasia Phenotypic_abnormality 5 HP:0006522 HP:0006522 Repeated pneumothoraces Phenotypic_abnormality 5 HP:0006524 HP:0006524 Tracheobronchial leiomyomatosis Phenotypic_abnormality 5 HP:0006527 HP:0006527 Lymphoid interstitial pneumonia Phenotypic_abnormality 5 HP:0006531 HP:0006531 Pleural lymphangiectasia Phenotypic_abnormality 5 HP:0006541 HP:0006541 Chronic obstructive airway disease from birth Phenotypic_abnormality 5 HP:0006552 HP:0006552 Fibrocystic lung disease Phenotypic_abnormality 5 HP:0006555 HP:0006555 Diffuse hepatic steatosis Phenotypic_abnormality 5 HP:0006557 HP:0006557 Polycystic liver disease Phenotypic_abnormality 5 HP:0006562 HP:0006562 Viral hepatitis Phenotypic_abnormality 5 HP:0006563 HP:0006563 Malformation of the hepatic ductal plate Phenotypic_abnormality 5 HP:0006564 HP:0006564 Fluctuating hepatomegaly Phenotypic_abnormality 5 HP:0006565 HP:0006565 Increased hepatocellular lipid droplets Phenotypic_abnormality 5 HP:0006573 HP:0006573 Acute hepatic steatosis Phenotypic_abnormality 5 HP:0006576 HP:0006576 Hepatic vascular malformations Phenotypic_abnormality 5 HP:0006577 HP:0006577 Macronodular cirrhosis Phenotypic_abnormality 5 HP:0006580 HP:0006580 Portal fibrosis Phenotypic_abnormality 5 HP:0006585 HP:0006585 Congenital pseudarthrosis of the clavicle Phenotypic_abnormality 5 HP:0006597 HP:0006597 Diaphragmatic paralysis Phenotypic_abnormality 5 HP:0006600 HP:0006600 Progressive calcification of costochondral cartilage Phenotypic_abnormality 5 HP:0006607 HP:0006607 Precocious costochondral ossification Phenotypic_abnormality 5 HP:0006625 HP:0006625 Multifocal breast carcinoma Phenotypic_abnormality 5 HP:0006646 HP:0006646 Costal cartilage calcification Phenotypic_abnormality 5 HP:0006670 HP:0006670 Impaired myocardial contractility Phenotypic_abnormality 5 HP:0006679 HP:0006679 Granulomatous coronary arteritis Phenotypic_abnormality 5 HP:0006682 HP:0006682 Ventricular extrasystoles Phenotypic_abnormality 5 HP:0006683 HP:0006683 Abnormal ventricular filling Phenotypic_abnormality 5 HP:0006687 HP:0006687 Aortic tortuosity Phenotypic_abnormality 5 HP:0006688 HP:0006688 Paroxysmal tachycardia Phenotypic_abnormality 5 HP:0006689 HP:0006689 Bacterial endocarditis Phenotypic_abnormality 5 HP:0006693 HP:0006693 Myocardial steatosis Phenotypic_abnormality 5 HP:0006695 HP:0006695 Atrioventricular canal defect Phenotypic_abnormality 5 HP:0006696 HP:0006696 Polymorphic and polytopic ventricular extrasystoles Phenotypic_abnormality 5 HP:0006699 HP:0006699 Ectopic supraventricular rhythms Phenotypic_abnormality 5 HP:0006702 HP:0006702 Spontaneous coronary artery dissection Phenotypic_abnormality 5 HP:0006711 HP:0006711 Aplasia/Hypoplasia involving bones of the thorax Phenotypic_abnormality 5 HP:0006717 HP:0006717 Peripheral neuroepithelioma Phenotypic_abnormality 5 HP:0006719 HP:0006719 Benign gastrointestinal tract tumors Phenotypic_abnormality 5 HP:0006722 HP:0006722 Small intestine carcinoid Phenotypic_abnormality 5 HP:0006723 HP:0006723 Intestinal carcinoid Phenotypic_abnormality 5 HP:0006725 HP:0006725 Pancreatic adenocarcinoma Phenotypic_abnormality 5 HP:0006739 HP:0006739 Squamous cell carcinoma of the skin Phenotypic_abnormality 5 HP:0006749 HP:0006749 Malignant gastrointestinal tract tumors Phenotypic_abnormality 5 HP:0006753 HP:0006753 Neoplasm of the stomach Phenotypic_abnormality 5 HP:0006779 HP:0006779 Alveolar rhabdomyosarcoma Phenotypic_abnormality 5 HP:0006780 HP:0006780 Parathyroid carcinoma Phenotypic_abnormality 5 HP:0006785 HP:0006785 Limb-girdle muscular dystrophy Phenotypic_abnormality 5 HP:0006799 HP:0006799 Basal ganglia cysts Phenotypic_abnormality 5 HP:0006803 HP:0006803 Vivid hallucinations Phenotypic_abnormality 5 HP:0006824 HP:0006824 Cranial nerve paralysis Phenotypic_abnormality 5 HP:0006829 HP:0006829 Severe muscular hypotonia Phenotypic_abnormality 5 HP:0006834 HP:0006834 Developmental stagnation at onset of seizures Phenotypic_abnormality 5 HP:0006865 HP:0006865 Sensorimotor polyneuropathy affecting arms more than legs Phenotypic_abnormality 5 HP:0006887 HP:0006887 Intellectual disability, progressive Phenotypic_abnormality 5 HP:0006889 HP:0006889 Intellectual disability, borderline Phenotypic_abnormality 5 HP:0006896 HP:0006896 Hypnopompic hallucinations Phenotypic_abnormality 5 HP:0006903 HP:0006903 Congenital peripheral neuropathy Phenotypic_abnormality 5 HP:0006916 HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Phenotypic_abnormality 5 HP:0006919 HP:0006919 Abnormal aggressive, impulsive or violent behavior Phenotypic_abnormality 5 HP:0006946 HP:0006946 Recurrent meningitis Phenotypic_abnormality 5 HP:0006949 HP:0006949 Episodic peripheral neuropathy Phenotypic_abnormality 5 HP:0006959 HP:0006959 Proximal spinal muscular atrophy Phenotypic_abnormality 5 HP:0006961 HP:0006961 Jerky head movements Phenotypic_abnormality 5 HP:0006965 HP:0006965 Acute necrotizing encephalopathy Phenotypic_abnormality 5 HP:0006977 HP:0006977 Grammar-specific speech disorder Phenotypic_abnormality 5 HP:0006979 HP:0006979 Sleep-wake cycle disturbance Phenotypic_abnormality 5 HP:0007009 HP:0007009 Central nervous system degeneration Phenotypic_abnormality 5 HP:0007018 HP:0007018 Attention deficit hyperactivity disorder Phenotypic_abnormality 5 HP:0007036 HP:0007036 Hypoplasia of olfactory tract Phenotypic_abnormality 5 HP:0007069 HP:0007069 Profound static encephalopathy Phenotypic_abnormality 5 HP:0007076 HP:0007076 Extrapyramidal muscular rigidity Phenotypic_abnormality 5 HP:0007078 HP:0007078 Decreased amplitude of sensory action potentials Phenotypic_abnormality 5 HP:0007087 HP:0007087 Involuntary jerking movements Phenotypic_abnormality 5 HP:0007097 HP:0007097 Cranial nerve motor loss Phenotypic_abnormality 5 HP:0007104 HP:0007104 Prolonged somatosensory evoked potentials Phenotypic_abnormality 5 HP:0007108 HP:0007108 Demyelinating peripheral neuropathy Phenotypic_abnormality 5 HP:0007109 HP:0007109 Periventricular cysts Phenotypic_abnormality 5 HP:0007110 HP:0007110 Central hypoventilation Phenotypic_abnormality 5 HP:0007111 HP:0007111 Chronic hepatic encephalopathy Phenotypic_abnormality 5 HP:0007133 HP:0007133 Progressive peripheral neuropathy Phenotypic_abnormality 5 HP:0007141 HP:0007141 Sensorimotor neuropathy Phenotypic_abnormality 5 HP:0007149 HP:0007149 Distal upper limb amyotrophy Phenotypic_abnormality 5 HP:0007153 HP:0007153 Progressive extrapyramidal movement disorder Phenotypic_abnormality 5 HP:0007159 HP:0007159 Fluctuations in consciousness Phenotypic_abnormality 5 HP:0007166 HP:0007166 Paroxysmal dyskinesia Phenotypic_abnormality 5 HP:0007178 HP:0007178 Motor polyneuropathy Phenotypic_abnormality 5 HP:0007181 HP:0007181 Interosseus muscle atrophy Phenotypic_abnormality 5 HP:0007182 HP:0007182 Peripheral hypomyelination Phenotypic_abnormality 5 HP:0007185 HP:0007185 Loss of consciousness Phenotypic_abnormality 5 HP:0007200 HP:0007200 Episodic hypersomnia Phenotypic_abnormality 5 HP:0007201 HP:0007201 Cerebral artery atherosclerosis Phenotypic_abnormality 5 HP:0007266 HP:0007266 Cerebral dysmyelination Phenotypic_abnormality 5 HP:0007277 HP:0007277 Paucity of anterior horn motor neurons Phenotypic_abnormality 5 HP:0007280 HP:0007280 Acute infantile spinal muscular atrophy Phenotypic_abnormality 5 HP:0007291 HP:0007291 Posterior fossa cyst Phenotypic_abnormality 5 HP:0007295 HP:0007295 Chaotic rapid conjugate ocular movements Phenotypic_abnormality 5 HP:0007301 HP:0007301 Oromotor apraxia Phenotypic_abnormality 5 HP:0007302 HP:0007302 Bipolar affective disorder Phenotypic_abnormality 5 HP:0007305 HP:0007305 CNS demyelination Phenotypic_abnormality 5 HP:0007308 HP:0007308 Extrapyramidal dyskinesia Phenotypic_abnormality 5 HP:0007316 HP:0007316 Involuntary writhing movements Phenotypic_abnormality 5 HP:0007325 HP:0007325 Generalized dystonia Phenotypic_abnormality 5 HP:0007327 HP:0007327 Mixed demyelinating and axonal polyneuropathy Phenotypic_abnormality 5 HP:0007338 HP:0007338 Hypermetric saccades Phenotypic_abnormality 5 HP:0007340 HP:0007340 Lower limb muscle weakness Phenotypic_abnormality 5 HP:0007344 HP:0007344 Atrophy/Degeneration involving the spinal cord Phenotypic_abnormality 5 HP:0007360 HP:0007360 Aplasia/Hypoplasia of the cerebellum Phenotypic_abnormality 5 HP:0007362 HP:0007362 Aplasia/Hypoplasia of the brainstem Phenotypic_abnormality 5 HP:0007363 HP:0007363 Aplasia/Hypoplasia of the pyramidal tract Phenotypic_abnormality 5 HP:0007364 HP:0007364 Aplasia/Hypoplasia of the cerebrum Phenotypic_abnormality 5 HP:0007365 HP:0007365 Aplasia/Hypoplasia involving the corticospinal tracts Phenotypic_abnormality 5 HP:0007366 HP:0007366 Atrophy/Degeneration affecting the brainstem Phenotypic_abnormality 5 HP:0007369 HP:0007369 Atrophy/Degeneration affecting the cerebrum Phenotypic_abnormality 5 HP:0007372 HP:0007372 Atrophy/Degeneration involving the corticospinal tracts Phenotypic_abnormality 5 HP:0007373 HP:0007373 Atrophy/Degeneration involving motor neurons Phenotypic_abnormality 5 HP:0007383 HP:0007383 Congenital localized absence of skin Phenotypic_abnormality 5 HP:0007387 HP:0007387 Hypoplastic sweat glands Phenotypic_abnormality 5 HP:0007394 HP:0007394 Prominent superficial blood vessels Phenotypic_abnormality 5 HP:0007396 HP:0007396 Early cutaneous photosensitivity Phenotypic_abnormality 5 HP:0007397 HP:0007397 Axillary apocrine gland hypoplasia Phenotypic_abnormality 5 HP:0007398 HP:0007398 Asymmetric, linear skin defects Phenotypic_abnormality 5 HP:0007403 HP:0007403 Hypertrophy of skin of soles Phenotypic_abnormality 5 HP:0007408 HP:0007408 Tegumentary leishmaniasis susceptibility Phenotypic_abnormality 5 HP:0007410 HP:0007410 Palmoplantar hyperhidrosis Phenotypic_abnormality 5 HP:0007411 HP:0007411 Hypoplastic-absent sebaceous glands Phenotypic_abnormality 5 HP:0007417 HP:0007417 Discoid lupus erythematosus Phenotypic_abnormality 5 HP:0007429 HP:0007429 Few cafe-au-lait spots Phenotypic_abnormality 5 HP:0007432 HP:0007432 Intermittent generalized erythematous papular rash Phenotypic_abnormality 5 HP:0007436 HP:0007436 Hair-nail ectodermal dysplasia Phenotypic_abnormality 5 HP:0007441 HP:0007441 Hyperpigmented/hypopigmented macules Phenotypic_abnormality 5 HP:0007455 HP:0007455 Adermatoglyphia Phenotypic_abnormality 5 HP:0007461 HP:0007461 Hemangiomatosis Phenotypic_abnormality 5 HP:0007469 HP:0007469 Palmoplantar cutis gyrata Phenotypic_abnormality 5 HP:0007476 HP:0007476 Anhidrotic ectodermal dysplasia Phenotypic_abnormality 5 HP:0007480 HP:0007480 Decreased sweating due to autonomic dysfunction Phenotypic_abnormality 5 HP:0007499 HP:0007499 Recurrent staphylococcal infections Phenotypic_abnormality 5 HP:0007510 HP:0007510 Focal dermal aplasia/hypoplasia Phenotypic_abnormality 5 HP:0007515 HP:0007515 Hypoplastic pilosebaceous units Phenotypic_abnormality 5 HP:0007517 HP:0007517 Palmoplantar cutis laxa Phenotypic_abnormality 5 HP:0007525 HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin Phenotypic_abnormality 5 HP:0007529 HP:0007529 Hidrotic ectodermal dysplasia Phenotypic_abnormality 5 HP:0007537 HP:0007537 Severe photosensitivity Phenotypic_abnormality 5 HP:0007552 HP:0007552 Abnormal subcutaneous fat tissue distribution Phenotypic_abnormality 5 HP:0007565 HP:0007565 Multiple cafe-au-lait spots Phenotypic_abnormality 5 HP:0007585 HP:0007585 Skin fragility with non-scarring blistering Phenotypic_abnormality 5 HP:0007592 HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands Phenotypic_abnormality 5 HP:0007607 HP:0007607 Hypohidrotic ectodermal dysplasia Phenotypic_abnormality 5 HP:0007641 HP:0007641 Dyschromatopsia Phenotypic_abnormality 5 HP:0007642 HP:0007642 Congenital stationary night blindness Phenotypic_abnormality 5 HP:0007663 HP:0007663 Decreased central vision Phenotypic_abnormality 5 HP:0007668 HP:0007668 Impaired pursuit initiation and maintenance Phenotypic_abnormality 5 HP:0007670 HP:0007670 Abnormal vestibulo-ocular reflex Phenotypic_abnormality 5 HP:0007675 HP:0007675 Progressive night blindness Phenotypic_abnormality 5 HP:0007704 HP:0007704 Paroxysmal involuntary eye movements Phenotypic_abnormality 5 HP:0007715 HP:0007715 Weak extraocular muscles Phenotypic_abnormality 5 HP:0007717 HP:0007717 Chronic irritative conjunctivitis Phenotypic_abnormality 5 HP:0007734 HP:0007734 Enlarged lacrimal glands Phenotypic_abnormality 5 HP:0007738 HP:0007738 Uncontrolled eye movements Phenotypic_abnormality 5 HP:0007739 HP:0007739 Mildly reduced visual acuity Phenotypic_abnormality 5 HP:0007758 HP:0007758 Congenital visual impairment Phenotypic_abnormality 5 HP:0007772 HP:0007772 Impaired smooth pursuit Phenotypic_abnormality 5 HP:0007803 HP:0007803 Monochromacy Phenotypic_abnormality 5 HP:0007817 HP:0007817 Horizontal supranuclear gaze palsy Phenotypic_abnormality 5 HP:0007820 HP:0007820 Atretic lacrimal punctum Phenotypic_abnormality 5 HP:0007830 HP:0007830 Adult-onset night blindness Phenotypic_abnormality 5 HP:0007832 HP:0007832 Pigmentation of the sclera Phenotypic_abnormality 5 HP:0007854 HP:0007854 Glaucomatous visual field defect Phenotypic_abnormality 5 HP:0007872 HP:0007872 Choroidal hemangiomata Phenotypic_abnormality 5 HP:0007879 HP:0007879 Allergic conjunctivitis Phenotypic_abnormality 5 HP:0007892 HP:0007892 Hypoplasia of the lacrimal puncta Phenotypic_abnormality 5 HP:0007900 HP:0007900 Hypoplastic lacrimal duct Phenotypic_abnormality 5 HP:0007902 HP:0007902 Vitreous hemorrhage Phenotypic_abnormality 5 HP:0007911 HP:0007911 Congenital bilateral ptosis Phenotypic_abnormality 5 HP:0007925 HP:0007925 Lacrimal duct aplasia Phenotypic_abnormality 5 HP:0007928 HP:0007928 Abnormal flash visual evoked potentials Phenotypic_abnormality 5 HP:0007965 HP:0007965 Absence of visual evoked potentials Phenotypic_abnormality 5 HP:0007987 HP:0007987 Progressive visual field defects Phenotypic_abnormality 5 HP:0007993 HP:0007993 Malformed lacrimal ducts Phenotypic_abnormality 5 HP:0007994 HP:0007994 Peripheral visual field loss Phenotypic_abnormality 5 HP:0008003 HP:0008003 Jerky ocular pursuit movements Phenotypic_abnormality 5 HP:0008007 HP:0008007 Primary congenital glaucoma Phenotypic_abnormality 5 HP:0008012 HP:0008012 Congenital myopia Phenotypic_abnormality 5 HP:0008038 HP:0008038 Aplastic/hypoplastic lacrimal glands Phenotypic_abnormality 5 HP:0008041 HP:0008041 Late onset congenital glaucoma Phenotypic_abnormality 5 HP:0008046 HP:0008046 Abnormality of the retinal vasculature Phenotypic_abnormality 5 HP:0008055 HP:0008055 Aplasia/Hypoplasia affecting the uvea Phenotypic_abnormality 5 HP:0008057 HP:0008057 Aplasia/Hypoplasia affecting the fundus Phenotypic_abnormality 5 HP:0008062 HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Phenotypic_abnormality 5 HP:0008066 HP:0008066 Abnormal blistering of the skin Phenotypic_abnormality 5 HP:0008070 HP:0008070 Sparse hair Phenotypic_abnormality 5 HP:0008113 HP:0008113 Multiple plantar creases Phenotypic_abnormality 5 HP:0008114 HP:0008114 Metatarsal diaphyseal endosteal sclerosis Phenotypic_abnormality 5 HP:0008148 HP:0008148 Impaired epinephrine-induced platelet aggregation Phenotypic_abnormality 5 HP:0008150 HP:0008150 Elevated serum transaminases during infections Phenotypic_abnormality 5 HP:0008151 HP:0008151 Prolonged prothrombin time Phenotypic_abnormality 5 HP:0008162 HP:0008162 Asymptomatic hyperammonemia Phenotypic_abnormality 5 HP:0008163 HP:0008163 Decreased circulating cortisol level Phenotypic_abnormality 5 HP:0008166 HP:0008166 Decreased beta-galactosidase activity Phenotypic_abnormality 5 HP:0008167 HP:0008167 Very long chain fatty acid accumulation Phenotypic_abnormality 5 HP:0008169 HP:0008169 Reduced factor VII activity Phenotypic_abnormality 5 HP:0008180 HP:0008180 Mildly elevated creatine phosphokinase Phenotypic_abnormality 5 HP:0008182 HP:0008182 Adrenocortical hypoplasia Phenotypic_abnormality 5 HP:0008185 HP:0008185 Precocious puberty in males Phenotypic_abnormality 5 HP:0008191 HP:0008191 Thyroid agenesis Phenotypic_abnormality 5 HP:0008198 HP:0008198 Congenital hypoparathyroidism Phenotypic_abnormality 5 HP:0008200 HP:0008200 Primary hyperparathyroidism Phenotypic_abnormality 5 HP:0008204 HP:0008204 Precocious puberty with Sertoli cell tumor Phenotypic_abnormality 5 HP:0008207 HP:0008207 Primary adrenal insufficiency Phenotypic_abnormality 5 HP:0008211 HP:0008211 Parathyroid agenesis Phenotypic_abnormality 5 HP:0008223 HP:0008223 Compensated hypothyroidism Phenotypic_abnormality 5 HP:0008225 HP:0008225 Thyroid follicular hyperplasia Phenotypic_abnormality 5 HP:0008227 HP:0008227 Pituitary resistance to thyroid hormone Phenotypic_abnormality 5 HP:0008231 HP:0008231 Macronodular adrenal hyperplasia Phenotypic_abnormality 5 HP:0008236 HP:0008236 Isosexual precocious puberty Phenotypic_abnormality 5 HP:0008239 HP:0008239 Adrenal medullary hypoplasia Phenotypic_abnormality 5 HP:0008244 HP:0008244 Congenital adrenal hypoplasia Phenotypic_abnormality 5 HP:0008251 HP:0008251 Congenital goiter Phenotypic_abnormality 5 HP:0008258 HP:0008258 Congenital adrenal hyperplasia Phenotypic_abnormality 5 HP:0008265 HP:0008265 Mitochondrial lysine transport defect Phenotypic_abnormality 5 HP:0008277 HP:0008277 Abnormality of zinc homeostasis Phenotypic_abnormality 5 HP:0008281 HP:0008281 Acute hyperammonemia Phenotypic_abnormality 5 HP:0008283 HP:0008283 Fasting hyperinsulinemia Phenotypic_abnormality 5 HP:0008285 HP:0008285 Transient hypophosphatemia Phenotypic_abnormality 5 HP:0008306 HP:0008306 Abnormal iron deposition in mitochondria Phenotypic_abnormality 5 HP:0008311 HP:0008311 Spinal cord posterior columns myelin loss Phenotypic_abnormality 5 HP:0008316 HP:0008316 Abnormal mitochondria in muscle tissue Phenotypic_abnormality 5 HP:0008318 HP:0008318 Elevated leukocyte alkaline phosphatase Phenotypic_abnormality 5 HP:0008320 HP:0008320 Impaired collagen-induced platelet aggregation Phenotypic_abnormality 5 HP:0008321 HP:0008321 Reduced factor X activity Phenotypic_abnormality 5 HP:0008330 HP:0008330 Reduced von Willebrand factor activity Phenotypic_abnormality 5 HP:0008331 HP:0008331 Elevated creatine kinase after exercise Phenotypic_abnormality 5 HP:0008344 HP:0008344 Elevated plasma branched chain amino acids Phenotypic_abnormality 5 HP:0008346 HP:0008346 Increased red cell sickling tendency Phenotypic_abnormality 5 HP:0008357 HP:0008357 Reduced factor XIII activity Phenotypic_abnormality 5 HP:0008391 HP:0008391 Dystrophic fingernails Phenotypic_abnormality 5 HP:0008392 HP:0008392 Subungual hyperkeratosis Phenotypic_abnormality 5 HP:0008393 HP:0008393 Congenital curved nail of fourth toe Phenotypic_abnormality 5 HP:0008394 HP:0008394 Congenital onychodystrophy Phenotypic_abnormality 5 HP:0008399 HP:0008399 Circumungual hyperkeratosis Phenotypic_abnormality 5 HP:0008400 HP:0008400 Onycholysis of distal fingernails Phenotypic_abnormality 5 HP:0008401 HP:0008401 Onychogryposis of toenails Phenotypic_abnormality 5 HP:0008402 HP:0008402 Ridged fingernail Phenotypic_abnormality 5 HP:0008410 HP:0008410 Subungual hyperkeratotic fragments Phenotypic_abnormality 5 HP:0008423 HP:0008423 Spinal dysplasia Phenotypic_abnormality 5 HP:0008433 HP:0008433 Reversed usual vertebral column curves Phenotypic_abnormality 5 HP:0008443 HP:0008443 Spinal deformities Phenotypic_abnormality 5 HP:0008499 HP:0008499 High-grade hypermetropia Phenotypic_abnormality 5 HP:0008504 HP:0008504 Moderate sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008507 HP:0008507 Static ophthalmoparesis Phenotypic_abnormality 5 HP:0008509 HP:0008509 Aged leonine appearance Phenotypic_abnormality 5 HP:0008513 HP:0008513 Bilateral conductive hearing impairment Phenotypic_abnormality 5 HP:0008518 HP:0008518 Aplasia/Hypoplasia involving the vertebral column Phenotypic_abnormality 5 HP:0008519 HP:0008519 Abnormality of the coccyx Phenotypic_abnormality 5 HP:0008523 HP:0008523 Posterior helix pit Phenotypic_abnormality 5 HP:0008527 HP:0008527 Congenital sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008528 HP:0008528 Long hairs growing from helix of pinna Phenotypic_abnormality 5 HP:0008529 HP:0008529 Absence of acoustic reflex Phenotypic_abnormality 5 HP:0008544 HP:0008544 Abnormally folded helix Phenotypic_abnormality 5 HP:0008554 HP:0008554 Cochlear malformation Phenotypic_abnormality 5 HP:0008569 HP:0008569 Microtia, second degree Phenotypic_abnormality 5 HP:0008573 HP:0008573 Low-frequency sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008587 HP:0008587 Mild neurosensory hearing impairment Phenotypic_abnormality 5 HP:0008588 HP:0008588 Slit-like opening of the exterior auditory meatus Phenotypic_abnormality 5 HP:0008589 HP:0008589 Hypoplastic helices Phenotypic_abnormality 5 HP:0008591 HP:0008591 Congenital conductive hearing impairment Phenotypic_abnormality 5 HP:0008593 HP:0008593 Prominent antitragus Phenotypic_abnormality 5 HP:0008598 HP:0008598 Mild conductive hearing impairment Phenotypic_abnormality 5 HP:0008607 HP:0008607 Progressive conductive hearing impairment Phenotypic_abnormality 5 HP:0008615 HP:0008615 Adult onset sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008619 HP:0008619 Bilateral sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008625 HP:0008625 Severe sensorineural hearing impairment Phenotypic_abnormality 5 HP:0008628 HP:0008628 Abnormality of the stapes Phenotypic_abnormality 5 HP:0008631 HP:0008631 Ureteral dysgenesis Phenotypic_abnormality 5 HP:0008633 HP:0008633 Absent gonadal tissue Phenotypic_abnormality 5 HP:0008635 HP:0008635 Hypertrophy of the urinary bladder Phenotypic_abnormality 5 HP:0008639 HP:0008639 Gonadal hypoplasia Phenotypic_abnormality 5 HP:0008669 HP:0008669 Abnormal spermatogenesis Phenotypic_abnormality 5 HP:0008676 HP:0008676 Congenital megaureter Phenotypic_abnormality 5 HP:0008702 HP:0008702 Absent internal genitalia Phenotypic_abnormality 5 HP:0008732 HP:0008732 Renal hypophosphatemia Phenotypic_abnormality 5 HP:0008744 HP:0008744 Abnormality of the aryepiglottic fold Phenotypic_abnormality 5 HP:0008747 HP:0008747 Cartilaginous ossification of larynx Phenotypic_abnormality 5 HP:0008749 HP:0008749 Laryngeal hypoplasia Phenotypic_abnormality 5 HP:0008750 HP:0008750 Laryngeal atresia Phenotypic_abnormality 5 HP:0008751 HP:0008751 Laryngeal cleft Phenotypic_abnormality 5 HP:0008752 HP:0008752 Laryngeal cartilage malformation Phenotypic_abnormality 5 HP:0008762 HP:0008762 Repetitive compulsive behavior Phenotypic_abnormality 5 HP:0008765 HP:0008765 Auditory hallucinations Phenotypic_abnormality 5 HP:0008767 HP:0008767 Self-mutilation of tongue and lips due to involuntary movements Phenotypic_abnormality 5 HP:0008768 HP:0008768 Inappropriate sexual behavior Phenotypic_abnormality 5 HP:0008770 HP:0008770 Obsessive-compulsive trait Phenotypic_abnormality 5 HP:0008777 HP:0008777 Abnormality of the vocal cords Phenotypic_abnormality 5 HP:0008800 HP:0008800 Limited hip movement Phenotypic_abnormality 5 HP:0008848 HP:0008848 Moderately short stature Phenotypic_abnormality 5 HP:0008873 HP:0008873 Disproportionate short-limb short stature Phenotypic_abnormality 5 HP:0008936 HP:0008936 Muscular hypotonia of the trunk Phenotypic_abnormality 5 HP:0008940 HP:0008940 Generalized lymphadenopathy Phenotypic_abnormality 5 HP:0008944 HP:0008944 Distal lower limb amyotrophy Phenotypic_abnormality 5 HP:0008946 HP:0008946 Pelvic girdle amyotrophy Phenotypic_abnormality 5 HP:0008947 HP:0008947 Infantile muscular hypotonia Phenotypic_abnormality 5 HP:0008948 HP:0008948 Proximal upper limb amyotrophy Phenotypic_abnormality 5 HP:0008955 HP:0008955 Progressive distal muscular atrophy Phenotypic_abnormality 5 HP:0008956 HP:0008956 Proximal lower limb amyotrophy Phenotypic_abnormality 5 HP:0008959 HP:0008959 Distal upper limb muscle weakness Phenotypic_abnormality 5 HP:0008981 HP:0008981 Calf muscle hypertrophy Phenotypic_abnormality 5 HP:0008984 HP:0008984 Neck muscle hypoplasia Phenotypic_abnormality 5 HP:0008986 HP:0008986 Agenesis of the diaphragm Phenotypic_abnormality 5 HP:0008991 HP:0008991 Exercise-induced leg cramps Phenotypic_abnormality 5 HP:0008994 HP:0008994 Proximal muscle weakness in lower limbs Phenotypic_abnormality 5 HP:0008997 HP:0008997 Proximal muscle weakness in upper limbs Phenotypic_abnormality 5 HP:0009002 HP:0009002 Loss of truncal subcutaneous adipose tissue Phenotypic_abnormality 5 HP:0009016 HP:0009016 Upper limb muscle hypoplasia Phenotypic_abnormality 5 HP:0009017 HP:0009017 Loss of gluteal subcutaneous adipose tissue Phenotypic_abnormality 5 HP:0009037 HP:0009037 Segmental spinal muscular atrophy Phenotypic_abnormality 5 HP:0009051 HP:0009051 Increased muscle glycogen content Phenotypic_abnormality 5 HP:0009053 HP:0009053 Distal lower limb muscle weakness Phenotypic_abnormality 5 HP:0009055 HP:0009055 Generalized limb muscle atrophy Phenotypic_abnormality 5 HP:0009063 HP:0009063 Progressive distal muscle weakness Phenotypic_abnormality 5 HP:0009067 HP:0009067 Progressive spinal muscular atrophy Phenotypic_abnormality 5 HP:0009073 HP:0009073 Progressive proximal muscle weakness Phenotypic_abnormality 5 HP:0009103 HP:0009103 Aplasia/Hypoplasia involving the pelvis Phenotypic_abnormality 5 HP:0009106 HP:0009106 Abnormal pelvis bone ossification Phenotypic_abnormality 5 HP:0009112 HP:0009112 Absent left hemidiaphragm Phenotypic_abnormality 5 HP:0009116 HP:0009116 Aplasia/Hypoplasia involving bones of the skull Phenotypic_abnormality 5 HP:0009132 HP:0009132 Abnormal tarsal bone mineral density Phenotypic_abnormality 5 HP:0009139 HP:0009139 Osteolysis involving bones of the lower limbs Phenotypic_abnormality 5 HP:0012377 HP:0012377 Hemianopsia Phenotypic_abnormality 5 HP:0012384 HP:0012384 Rhinitis Phenotypic_abnormality 5 HP:0012387 HP:0012387 Bronchitis Phenotypic_abnormality 5 HP:0012389 HP:0012389 Appendicular hypotonia Phenotypic_abnormality 5 HP:0012391 HP:0012391 Hyporeflexia of upper limbs Phenotypic_abnormality 5 HP:0012392 HP:0012392 Jaw hyporeflexia Phenotypic_abnormality 5 HP:0012394 HP:0012394 Iodine contrast allergy Phenotypic_abnormality 5 HP:0012395 HP:0012395 Seasonal allergy Phenotypic_abnormality 5 HP:0012397 HP:0012397 Aortic atherosclerosis Phenotypic_abnormality 5 HP:0012399 HP:0012399 Pressure ulcer Phenotypic_abnormality 5 HP:0012401 HP:0012401 Abnormal urine alpha-ketoglutarate concentration Phenotypic_abnormality 5 HP:0012404 HP:0012404 Abnormal urine citrate concentration Phenotypic_abnormality 5 HP:0012407 HP:0012407 Scissor gait Phenotypic_abnormality 5 HP:0012410 HP:0012410 Pure red cell aplasia Phenotypic_abnormality 5 HP:0012411 HP:0012411 Premature pubarche Phenotypic_abnormality 5 HP:0012431 HP:0012431 Episodic fatigue Phenotypic_abnormality 5 HP:0012432 HP:0012432 Chronic fatigue Phenotypic_abnormality 5 HP:0012434 HP:0012434 Delayed social development Phenotypic_abnormality 5 HP:0012444 HP:0012444 Brain atrophy Phenotypic_abnormality 5 HP:0012446 HP:0012446 Low CSF 5-methyltetrahydrofolate Phenotypic_abnormality 5 HP:0012452 HP:0012452 Restless legs Phenotypic_abnormality 5 HP:0012461 HP:0012461 Bacteriuria Phenotypic_abnormality 5 HP:0012466 HP:0012466 Chronic respiratory acidosis Phenotypic_abnormality 5 HP:0012467 HP:0012467 Acute respiratory acidosis Phenotypic_abnormality 5 HP:0012469 HP:0012469 Infantile spasms Phenotypic_abnormality 5 HP:0012470 HP:0012470 Setting-sun eye phenomenon Phenotypic_abnormality 5 HP:0012474 HP:0012474 Carotid artery occlusion Phenotypic_abnormality 5 HP:0012477 HP:0012477 Vocal tremor Phenotypic_abnormality 5 HP:0012483 HP:0012483 Abnormal alpha granules Phenotypic_abnormality 5 HP:0012484 HP:0012484 Abnormal dense granules Phenotypic_abnormality 5 HP:0012486 HP:0012486 Myelitis Phenotypic_abnormality 5 HP:0012496 HP:0012496 Reduced maximal inspiratory pressure Phenotypic_abnormality 5 HP:0012497 HP:0012497 Reduced maximal expiratory pressure Phenotypic_abnormality 5 HP:0012500 HP:0012500 Verrucous papule Phenotypic_abnormality 5 HP:0012505 HP:0012505 Enlarged pituitary gland Phenotypic_abnormality 5 HP:0012506 HP:0012506 Small pituitary gland Phenotypic_abnormality 5 HP:0012510 HP:0012510 Extra-axial cerebrospinal fluid accumulation Phenotypic_abnormality 5 HP:0012523 HP:0012523 Oral aversion Phenotypic_abnormality 5 HP:0012539 HP:0012539 Non-Hodgkin lymphoma Phenotypic_abnormality 5 HP:0012540 HP:0012540 Axillary epidermoid cyst Phenotypic_abnormality 5 HP:0012542 HP:0012542 Onychauxis Phenotypic_abnormality 5 HP:0012543 HP:0012543 Hemosiderinuria Phenotypic_abnormality 5 HP:0012559 HP:0012559 Increased T3/T4 ratio Phenotypic_abnormality 5 HP:0012560 HP:0012560 Decreased T3/T4 ratio Phenotypic_abnormality 5 HP:0012591 HP:0012591 Abnormal urinary electrolyte concentration Phenotypic_abnormality 5 HP:0012610 HP:0012610 Abnormality of urinary uric acid concentration Phenotypic_abnormality 5 HP:0012611 HP:0012611 Increased urinary urate Phenotypic_abnormality 5 HP:0012612 HP:0012612 Abnormal urinary sulfate concentration Phenotypic_abnormality 5 HP:0012613 HP:0012613 Increased urinary sulfate Phenotypic_abnormality 5 HP:0012614 HP:0012614 Abnormal urine cytology Phenotypic_abnormality 5 HP:0012627 HP:0012627 Pseudoexfoliation Phenotypic_abnormality 5 HP:0012652 HP:0012652 Exercise-induced asthma Phenotypic_abnormality 5 HP:0012653 HP:0012653 Status Asthmaticus Phenotypic_abnormality 5 HP:0012654 HP:0012654 Abnormal CSF dopamine level Phenotypic_abnormality 5 HP:0012659 HP:0012659 Prefrontal hypometabolism in FDG PET Phenotypic_abnormality 5 HP:0012660 HP:0012660 Thalamic hypometabolism in FDG PET Phenotypic_abnormality 5 HP:0012661 HP:0012661 Hypothalamic hypometabolism in FDG PET Phenotypic_abnormality 5 HP:0012662 HP:0012662 Parietal hypometabolism in FDG PET Phenotypic_abnormality 5 HP:0012663 HP:0012663 Mildly reduced ejection fraction Phenotypic_abnormality 5 HP:0012665 HP:0012665 Moderately reduced ejection fraction Phenotypic_abnormality 5 HP:0012666 HP:0012666 Severely reduced ejection fraction Phenotypic_abnormality 5 HP:0012675 HP:0012675 Iron accumulation in brain Phenotypic_abnormality 5 HP:0012676 HP:0012676 Copper accumulation in brain Phenotypic_abnormality 5 HP:0012685 HP:0012685 Decreased pineal volume Phenotypic_abnormality 5 HP:0012686 HP:0012686 Increased pineal volume Phenotypic_abnormality 5 HP:0012704 HP:0012704 Widened subarachnoid space Phenotypic_abnormality 5 HP:0012716 HP:0012716 Moderate conductive hearing impairment Phenotypic_abnormality 5 HP:0012717 HP:0012717 Severe conductive hearing impairment Phenotypic_abnormality 5 HP:0012720 HP:0012720 Neoplasm of the nose Phenotypic_abnormality 5 HP:0012723 HP:0012723 Sinoatrial block Phenotypic_abnormality 5 HP:0012731 HP:0012731 Ectopic anterior pituitary gland Phenotypic_abnormality 5 HP:0012732 HP:0012732 Anorectal anomaly Phenotypic_abnormality 5 HP:0012742 HP:0012742 Thin fingernail Phenotypic_abnormality 5 HP:0012743 HP:0012743 Abdominal obesity Phenotypic_abnormality 5 HP:0012746 HP:0012746 Thin toenail Phenotypic_abnormality 5 HP:0012754 HP:0012754 CNS hypermyelination Phenotypic_abnormality 5 HP:0012760 HP:0012760 Impaired social reciprocity Phenotypic_abnormality 5 HP:0012776 HP:0012776 Abnormality of the ciliary body Phenotypic_abnormality 5 HP:0012786 HP:0012786 Recurrent cystitis Phenotypic_abnormality 5 HP:0012787 HP:0012787 Recurrent pyelonephritis Phenotypic_abnormality 5 HP:0012790 HP:0012790 Abnormal intramembranous ossification Phenotypic_abnormality 5 HP:0012798 HP:0012798 Pulmonary lymphangiomyomatosis Phenotypic_abnormality 5 HP:0012808 HP:0012808 Abnormal nasal base Phenotypic_abnormality 5 HP:0012819 HP:0012819 Myocarditis Phenotypic_abnormality 5 HP:0100008 HP:0100008 Schwannoma Phenotypic_abnormality 5 HP:0100023 HP:0100023 Recurrent hand flapping Phenotypic_abnormality 5 HP:0100024 HP:0100024 Conspicuously happy disposition Phenotypic_abnormality 5 HP:0100025 HP:0100025 Overfriendliness Phenotypic_abnormality 5 HP:0100028 HP:0100028 Ectopic thyroid Phenotypic_abnormality 5 HP:0100034 HP:0100034 Motor tics Phenotypic_abnormality 5 HP:0100035 HP:0100035 Phonic tics Phenotypic_abnormality 5 HP:0100036 HP:0100036 Pseudo-fractures Phenotypic_abnormality 5 HP:0100038 HP:0100038 Slow-growing scalp hair Phenotypic_abnormality 5 HP:0100039 HP:0100039 Thickened cortex of bones Phenotypic_abnormality 5 HP:0100133 HP:0100133 Abnormality of the pubic hair Phenotypic_abnormality 5 HP:0100134 HP:0100134 Abnormality of the axillary hair Phenotypic_abnormality 5 HP:0100168 HP:0100168 Fragmented epiphyses Phenotypic_abnormality 5 HP:0100240 HP:0100240 Synostosis of joints Phenotypic_abnormality 5 HP:0100245 HP:0100245 Desmoid tumors Phenotypic_abnormality 5 HP:0100248 HP:0100248 Hemiballismus Phenotypic_abnormality 5 HP:0100250 HP:0100250 Meningeal calcification Phenotypic_abnormality 5 HP:0100256 HP:0100256 Senile plaques Phenotypic_abnormality 5 HP:0100257 HP:0100257 Ectrodactyly Phenotypic_abnormality 5 HP:0100267 HP:0100267 Lip pit Phenotypic_abnormality 5 HP:0100289 HP:0100289 Abnormality of pattern reversal visual evoked potentials Phenotypic_abnormality 5 HP:0100290 HP:0100290 Abnormality of peripheral somatosensory evoked potentials Phenotypic_abnormality 5 HP:0100291 HP:0100291 Abnormality of central somatosensory evoked potentials Phenotypic_abnormality 5 HP:0100303 HP:0100303 Muscle fiber cytoplasmatic inclusion bodies Phenotypic_abnormality 5 HP:0100304 HP:0100304 Muscle fiber intranuclear inclusion bodies Phenotypic_abnormality 5 HP:0100327 HP:0100327 Cow milk allergy Phenotypic_abnormality 5 HP:0100497 HP:0100497 Vitamin B3 deficiency Phenotypic_abnormality 5 HP:0100502 HP:0100502 Vitamin B12 deficiency Phenotypic_abnormality 5 HP:0100507 HP:0100507 Folate deficiency Phenotypic_abnormality 5 HP:0100516 HP:0100516 Neoplasm of the ureter Phenotypic_abnormality 5 HP:0100517 HP:0100517 Neoplasm of the urethra Phenotypic_abnormality 5 HP:0100522 HP:0100522 Thymoma Phenotypic_abnormality 5 HP:0100524 HP:0100524 Limb duplication Phenotypic_abnormality 5 HP:0100538 HP:0100538 Abnormality of the supraorbital ridges Phenotypic_abnormality 5 HP:0100539 HP:0100539 Periorbital edema Phenotypic_abnormality 5 HP:0100541 HP:0100541 Femoral hernia Phenotypic_abnormality 5 HP:0100545 HP:0100545 Arterial stenosis Phenotypic_abnormality 5 HP:0100546 HP:0100546 Carotid artery stenosis Phenotypic_abnormality 5 HP:0100547 HP:0100547 Abnormality of forebrain morphology Phenotypic_abnormality 5 HP:0100552 HP:0100552 Neoplasm of the tracheobronchial system Phenotypic_abnormality 5 HP:0100561 HP:0100561 Spinal cord lesions Phenotypic_abnormality 5 HP:0100571 HP:0100571 Cardiac diverticulum Phenotypic_abnormality 5 HP:0100574 HP:0100574 Biliary tract neoplasm Phenotypic_abnormality 5 HP:0100576 HP:0100576 Amaurosis fugax Phenotypic_abnormality 5 HP:0100577 HP:0100577 Urinary bladder inflammation Phenotypic_abnormality 5 HP:0100629 HP:0100629 Midline facial cleft Phenotypic_abnormality 5 HP:0100632 HP:0100632 Pulmonary sequestration Phenotypic_abnormality 5 HP:0100635 HP:0100635 Carotid paraganglioma Phenotypic_abnormality 5 HP:0100636 HP:0100636 Pulmonary paraglioma Phenotypic_abnormality 5 HP:0100640 HP:0100640 Laryngeal cyst Phenotypic_abnormality 5 HP:0100641 HP:0100641 Neoplasm of the adrenal cortex Phenotypic_abnormality 5 HP:0100642 HP:0100642 Neoplasm of the adrenal medulla Phenotypic_abnormality 5 HP:0100644 HP:0100644 Melanonychia Phenotypic_abnormality 5 HP:0100645 HP:0100645 Cystocele Phenotypic_abnormality 5 HP:0100650 HP:0100650 Vaginal neoplasm Phenotypic_abnormality 5 HP:0100651 HP:0100651 Type I diabetes mellitus Phenotypic_abnormality 5 HP:0100670 HP:0100670 Rough bone trabeculation Phenotypic_abnormality 5 HP:0100678 HP:0100678 Premature skin wrinkling Phenotypic_abnormality 5 HP:0100700 HP:0100700 Abnormality of the arachnoid mater Phenotypic_abnormality 5 HP:0100701 HP:0100701 Abnormality of the pia mater Phenotypic_abnormality 5 HP:0100703 HP:0100703 Tongue thrusting Phenotypic_abnormality 5 HP:0100704 HP:0100704 Cortical visual impairment Phenotypic_abnormality 5 HP:0100706 HP:0100706 Abnormality of the oligodendroglia Phenotypic_abnormality 5 HP:0100707 HP:0100707 Abnormality of the astrocytes Phenotypic_abnormality 5 HP:0100708 HP:0100708 Abnormality of the microglia Phenotypic_abnormality 5 HP:0100711 HP:0100711 Abnormality of the thoracic spine Phenotypic_abnormality 5 HP:0100712 HP:0100712 Abnormality of the lumbar spine Phenotypic_abnormality 5 HP:0100721 HP:0100721 Mediastinal lymphadenopathy Phenotypic_abnormality 5 HP:0100723 HP:0100723 Gastrointestinal stroma tumor Phenotypic_abnormality 5 HP:0100725 HP:0100725 Lichenification Phenotypic_abnormality 5 HP:0100729 HP:0100729 Large face Phenotypic_abnormality 5 HP:0100731 HP:0100731 Transverse facial cleft Phenotypic_abnormality 5 HP:0100732 HP:0100732 Pancreatic fibrosis Phenotypic_abnormality 5 HP:0100734 HP:0100734 Abnormality of the vertebral epiphyses Phenotypic_abnormality 5 HP:0100739 HP:0100739 Bulimia Phenotypic_abnormality 5 HP:0100749 HP:0100749 Chest pain Phenotypic_abnormality 5 HP:0100757 HP:0100757 Pancreatoblastoma Phenotypic_abnormality 5 HP:0100769 HP:0100769 Synovitis Phenotypic_abnormality 5 HP:0100784 HP:0100784 Peripheral arteriovenous fistula Phenotypic_abnormality 5 HP:0100785 HP:0100785 Insomnia Phenotypic_abnormality 5 HP:0100786 HP:0100786 Hypersomnia Phenotypic_abnormality 5 HP:0100797 HP:0100797 Toenail dysplasia Phenotypic_abnormality 5 HP:0100798 HP:0100798 Fingernail dysplasia Phenotypic_abnormality 5 HP:0100804 HP:0100804 Ungual fibroma Phenotypic_abnormality 5 HP:0100810 HP:0100810 Pointed helix Phenotypic_abnormality 5 HP:0100814 HP:0100814 Blue nevus Phenotypic_abnormality 5 HP:0100833 HP:0100833 Neoplasm of the small intestine Phenotypic_abnormality 5 HP:0100834 HP:0100834 Neoplasm of the large intestine Phenotypic_abnormality 5 HP:0100835 HP:0100835 Benign neoplasm of the central nervous system Phenotypic_abnormality 5 HP:0100836 HP:0100836 Malignant neoplasm of the central nervous system Phenotypic_abnormality 5 HP:0100837 HP:0100837 Atrophodermia vermiculata Phenotypic_abnormality 5 HP:0100838 HP:0100838 Recurrent cutaneous abscess formation Phenotypic_abnormality 5 HP:0100844 HP:0100844 Pancreatic fistula Phenotypic_abnormality 5 HP:0100848 HP:0100848 Neoplasia of the male external genitalia Phenotypic_abnormality 5 HP:0100852 HP:0100852 Abnormal fear/anxiety-related behavior Phenotypic_abnormality 5 HP:0100855 HP:0100855 Triceps hypoplasia Phenotypic_abnormality 5 HP:0100858 HP:0100858 Celiac artery aneurysm Phenotypic_abnormality 5 HP:0100870 HP:0100870 Plantar telangiectasia Phenotypic_abnormality 5 HP:0100874 HP:0100874 Thick hair Phenotypic_abnormality 5 HP:0100876 HP:0100876 Infra-orbital crease Phenotypic_abnormality 5 HP:0100888 HP:0100888 Interdigital loops Phenotypic_abnormality 5 HP:0100950 HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency Phenotypic_abnormality 5 HP:0100962 HP:0100962 Shyness Phenotypic_abnormality 5 HP:0200001 HP:0200001 Dysharmonic accelerated bone age Phenotypic_abnormality 5 HP:0200003 HP:0200003 Splayed epiphyses Phenotypic_abnormality 5 HP:0200016 HP:0200016 Acrokeratosis Phenotypic_abnormality 5 HP:0200026 HP:0200026 Ocular pain Phenotypic_abnormality 5 HP:0200043 HP:0200043 Verrucae Phenotypic_abnormality 5 HP:0200059 HP:0200059 Metastatic angiosarcoma Phenotypic_abnormality 5 HP:0200084 HP:0200084 Giant cell hepatitis Phenotypic_abnormality 5 HP:0200085 HP:0200085 Limb tremor Phenotypic_abnormality 5 HP:0200118 HP:0200118 Malabsorption of Vitamin B12 Phenotypic_abnormality 5 HP:0200119 HP:0200119 Acute hepatitis Phenotypic_abnormality 5 HP:0200122 HP:0200122 Atypical or prolonged hepatitis Phenotypic_abnormality 5 HP:0200123 HP:0200123 Chronic hepatitis Phenotypic_abnormality 5 HP:0200125 HP:0200125 Mitochondrial respiratory chain defects Phenotypic_abnormality 5 HP:0200148 HP:0200148 Abnormal liver function tests during pregnancy Phenotypic_abnormality 5 HP:0200150 HP:0200150 increased serum bile acid concentration during pregnancy Phenotypic_abnormality 5 HP:0009553 HP:0009553 Abnormality of the hairline Phenotypic_abnormality 5 HP:0009591 HP:0009591 Abnormality of the vestibulocochlear nerve Phenotypic_abnormality 5 HP:0009594 HP:0009594 Retinal hamartoma Phenotypic_abnormality 5 HP:0009699 HP:0009699 Osteolytic defects of the hand bones Phenotypic_abnormality 5 HP:0009709 HP:0009709 Increased CSF interferon alpha Phenotypic_abnormality 5 HP:0009711 HP:0009711 Retinal hemangioblastoma Phenotypic_abnormality 5 HP:0009719 HP:0009719 Hypomelanotic macules Phenotypic_abnormality 5 HP:0009724 HP:0009724 Subungual fibromas Phenotypic_abnormality 5 HP:0009725 HP:0009725 Bladder neoplasm Phenotypic_abnormality 5 HP:0009726 HP:0009726 Renal neoplasm Phenotypic_abnormality 5 HP:0009733 HP:0009733 Glioma Phenotypic_abnormality 5 HP:0009736 HP:0009736 Tibial pseudoarthrosis Phenotypic_abnormality 5 HP:0009737 HP:0009737 Lisch nodules Phenotypic_abnormality 5 HP:0009739 HP:0009739 Hypoplasia of the antihelix Phenotypic_abnormality 5 HP:0009748 HP:0009748 Large earlobe Phenotypic_abnormality 5 HP:0009751 HP:0009751 Aplasia of the pectoralis major muscle Phenotypic_abnormality 5 HP:0009756 HP:0009756 Popliteal pterygium Phenotypic_abnormality 5 HP:0009757 HP:0009757 Intercrural pterygium Phenotypic_abnormality 5 HP:0009759 HP:0009759 Neck pterygia Phenotypic_abnormality 5 HP:0009760 HP:0009760 Antecubital pterygium Phenotypic_abnormality 5 HP:0009783 HP:0009783 Biceps aplasia Phenotypic_abnormality 5 HP:0009785 HP:0009785 Triceps aplasia Phenotypic_abnormality 5 HP:0009788 HP:0009788 Quadriceps aplasia Phenotypic_abnormality 5 HP:0009798 HP:0009798 Euthyroid goiter Phenotypic_abnormality 5 HP:0009821 HP:0009821 Forearm undergrowth Phenotypic_abnormality 5 HP:0009831 HP:0009831 Mononeuropathy Phenotypic_abnormality 5 HP:0009878 HP:0009878 Cerebellar ataxia associated with quadrupedal gait Phenotypic_abnormality 5 HP:0009886 HP:0009886 Trichorrhexis nodosa Phenotypic_abnormality 5 HP:0009895 HP:0009895 Abnormality of the crus of the helix Phenotypic_abnormality 5 HP:0009902 HP:0009902 Cleft helix Phenotypic_abnormality 5 HP:0009904 HP:0009904 Prominent ear helix Phenotypic_abnormality 5 HP:0009905 HP:0009905 Thin ear helix Phenotypic_abnormality 5 HP:0009906 HP:0009906 Aplasia/Hypoplasia of the earlobes Phenotypic_abnormality 5 HP:0009907 HP:0009907 Attached earlobe Phenotypic_abnormality 5 HP:0009908 HP:0009908 Anterior creases of earlobe Phenotypic_abnormality 5 HP:0009909 HP:0009909 Uplifted earlobe Phenotypic_abnormality 5 HP:0009910 HP:0009910 Aplasia of the middle ear ossicles Phenotypic_abnormality 5 HP:0009911 HP:0009911 Abnormality of the temporal bone Phenotypic_abnormality 5 HP:0009913 HP:0009913 Aplasia/Hypoplasia of the tragus Phenotypic_abnormality 5 HP:0010301 HP:0010301 Spinal dysraphism Phenotypic_abnormality 5 HP:0010302 HP:0010302 Spinal cord tumor Phenotypic_abnormality 5 HP:0010303 HP:0010303 Abnormality of the spinal meninges Phenotypic_abnormality 5 HP:0010306 HP:0010306 Short thorax Phenotypic_abnormality 5 HP:0010314 HP:0010314 Premature thelarche Phenotypic_abnormality 5 HP:0010438 HP:0010438 Abnormality of the ventricular septum Phenotypic_abnormality 5 HP:0010453 HP:0010453 Pelvic asymmetry Phenotypic_abnormality 5 HP:0010456 HP:0010456 Abnormality of the greater sacrosciatic notch Phenotypic_abnormality 5 HP:0010459 HP:0010459 True hermaphroditism Phenotypic_abnormality 5 HP:0010465 HP:0010465 Precocious puberty in females Phenotypic_abnormality 5 HP:0010474 HP:0010474 Bladder stones Phenotypic_abnormality 5 HP:0010476 HP:0010476 Aplasia/Hypoplasia of the bladder Phenotypic_abnormality 5 HP:0010478 HP:0010478 Abnormality of the urachus Phenotypic_abnormality 5 HP:0010483 HP:0010483 Amniotic constriction rings of arms Phenotypic_abnormality 5 HP:0010491 HP:0010491 Digital constriction ring Phenotypic_abnormality 5 HP:0010495 HP:0010495 Amniotic constriction rings of legs Phenotypic_abnormality 5 HP:0010506 HP:0010506 Abnormal plantar dermatoglyphics Phenotypic_abnormality 5 HP:0010513 HP:0010513 Pituitary calcification Phenotypic_abnormality 5 HP:0010514 HP:0010514 Hyperpituitarism Phenotypic_abnormality 5 HP:0010521 HP:0010521 Gait apraxia Phenotypic_abnormality 5 HP:0010522 HP:0010522 Dyslexia Phenotypic_abnormality 5 HP:0010523 HP:0010523 Alexia Phenotypic_abnormality 5 HP:0010525 HP:0010525 Finger agnosia Phenotypic_abnormality 5 HP:0010526 HP:0010526 Dysgraphia Phenotypic_abnormality 5 HP:0010528 HP:0010528 Prosopagnosia Phenotypic_abnormality 5 HP:0010535 HP:0010535 Sleep apnea Phenotypic_abnormality 5 HP:0010543 HP:0010543 Opsoclonus Phenotypic_abnormality 5 HP:0010549 HP:0010549 Paralysis due to lesions of the principle motor tracts Phenotypic_abnormality 5 HP:0010553 HP:0010553 Oculogyric crisis Phenotypic_abnormality 5 HP:0010562 HP:0010562 Keloids Phenotypic_abnormality 5 HP:0010577 HP:0010577 Absent epiphyses Phenotypic_abnormality 5 HP:0010578 HP:0010578 Bracket epiphyses Phenotypic_abnormality 5 HP:0010579 HP:0010579 Cone-shaped epiphysis Phenotypic_abnormality 5 HP:0010580 HP:0010580 Enlarged epiphyses Phenotypic_abnormality 5 HP:0010582 HP:0010582 Irregular epiphyses Phenotypic_abnormality 5 HP:0010583 HP:0010583 Ivory epiphyses Phenotypic_abnormality 5 HP:0010584 HP:0010584 Pseudoepiphyses Phenotypic_abnormality 5 HP:0010585 HP:0010585 Small epiphyses Phenotypic_abnormality 5 HP:0010587 HP:0010587 Triangular epiphyses Phenotypic_abnormality 5 HP:0010588 HP:0010588 Premature epimetaphyseal fusion Phenotypic_abnormality 5 HP:0010604 HP:0010604 Cyst of the eyelid Phenotypic_abnormality 5 HP:0010610 HP:0010610 Palmar pits Phenotypic_abnormality 5 HP:0010612 HP:0010612 Plantar pits Phenotypic_abnormality 5 HP:0010615 HP:0010615 Angiofibromas Phenotypic_abnormality 5 HP:0010616 HP:0010616 Lung fibroma Phenotypic_abnormality 5 HP:0010618 HP:0010618 Ovarian fibroma Phenotypic_abnormality 5 HP:0010624 HP:0010624 Aplastic/hypoplastic toenail Phenotypic_abnormality 5 HP:0010625 HP:0010625 Anterior pituitary dysgenesis Phenotypic_abnormality 5 HP:0010629 HP:0010629 Abnormality of the cortex of the humerus Phenotypic_abnormality 5 HP:0010640 HP:0010640 Abnormality of the nasal cavity Phenotypic_abnormality 5 HP:0010647 HP:0010647 Abnormal elasticity of skin Phenotypic_abnormality 5 HP:0010648 HP:0010648 Dermal translucency Phenotypic_abnormality 5 HP:0010652 HP:0010652 Abnormality of the dura mater Phenotypic_abnormality 5 HP:0010657 HP:0010657 Patchy reduction of bone mineral density Phenotypic_abnormality 5 HP:0010658 HP:0010658 Patchy changes of bone mineral density Phenotypic_abnormality 5 HP:0010674 HP:0010674 Abnormality of the curvature of the vertebral column Phenotypic_abnormality 5 HP:0010679 HP:0010679 Elevated tissue non-specific alkaline phosphatase Phenotypic_abnormality 5 HP:0010681 HP:0010681 Elevated intestinal alkaline phosphatase Phenotypic_abnormality 5 HP:0010682 HP:0010682 Elevated placental alkaline phosphatase Phenotypic_abnormality 5 HP:0010683 HP:0010683 Low tissue non-specific alkaline phosphatase Phenotypic_abnormality 5 HP:0010687 HP:0010687 Low intestinal alkaline phosphatase Phenotypic_abnormality 5 HP:0010688 HP:0010688 Low placental alkaline phosphatase Phenotypic_abnormality 5 HP:0010732 HP:0010732 Nodular changes affecting the eyelids Phenotypic_abnormality 5 HP:0010735 HP:0010735 Polyostotic fibrous dysplasia Phenotypic_abnormality 5 HP:0010736 HP:0010736 Monostotic fibrous dysplasia Phenotypic_abnormality 5 HP:0010743 HP:0010743 Short metatarsal Phenotypic_abnormality 5 HP:0010748 HP:0010748 Ectopic lacrimal punctum Phenotypic_abnormality 5 HP:0010751 HP:0010751 Chin dimple Phenotypic_abnormality 5 HP:0010772 HP:0010772 Anomalous pulmonary venous return Phenotypic_abnormality 5 HP:0010774 HP:0010774 Cor triatriatrum Phenotypic_abnormality 5 HP:0010779 HP:0010779 Large pelvis Phenotypic_abnormality 5 HP:0010782 HP:0010782 Shoulder dimples Phenotypic_abnormality 5 HP:0010783 HP:0010783 Erythema Phenotypic_abnormality 5 HP:0010784 HP:0010784 Uterine neoplasm Phenotypic_abnormality 5 HP:0010785 HP:0010785 Gonadal neoplasm Phenotypic_abnormality 5 HP:0010793 HP:0010793 Bifid nail Phenotypic_abnormality 5 HP:0010794 HP:0010794 Impaired visuospatial constructive cognition Phenotypic_abnormality 5 HP:0010802 HP:0010802 Perioral hyperpigmentation Phenotypic_abnormality 5 HP:0010816 HP:0010816 Epidermal nevus Phenotypic_abnormality 5 HP:0010818 HP:0010818 Generalized tonic seizures Phenotypic_abnormality 5 HP:0010819 HP:0010819 Atonic seizures Phenotypic_abnormality 5 HP:0010824 HP:0010824 Abnormality of the fifth cranial nerve Phenotypic_abnormality 5 HP:0010825 HP:0010825 Abnormality of the eleventh cranial nerve Phenotypic_abnormality 5 HP:0010826 HP:0010826 Abnormality of the twelfth cranial nerve Phenotypic_abnormality 5 HP:0010827 HP:0010827 Abnormality of the seventh cranial nerve Phenotypic_abnormality 5 HP:0010836 HP:0010836 Abnormality of copper homeostasis Phenotypic_abnormality 5 HP:0010852 HP:0010852 EEG with photoparoxysmal response Phenotypic_abnormality 5 HP:0010864 HP:0010864 Intellectual disability, severe Phenotypic_abnormality 5 HP:0010872 HP:0010872 EKG: T-wave inversion Phenotypic_abnormality 5 HP:0010875 HP:0010875 Chaddock reflex Phenotypic_abnormality 5 HP:0010888 HP:0010888 Morbus Koehler Phenotypic_abnormality 5 HP:0010889 HP:0010889 Morbus Kienboeck Phenotypic_abnormality 5 HP:0010890 HP:0010890 Morbus Osgood-Schlatter Phenotypic_abnormality 5 HP:0010891 HP:0010891 Morbus Scheuermann Phenotypic_abnormality 5 HP:0010893 HP:0010893 Abnormality of phenylalanine metabolism Phenotypic_abnormality 5 HP:0010895 HP:0010895 Abnormality of glycine metabolism Phenotypic_abnormality 5 HP:0010900 HP:0010900 Abnormality of threonine metabolism Phenotypic_abnormality 5 HP:0010901 HP:0010901 Abnormality of methionine metabolism Phenotypic_abnormality 5 HP:0010903 HP:0010903 Abnormality of glutamine metabolism Phenotypic_abnormality 5 HP:0010905 HP:0010905 Abnormality of histidine metabolism Phenotypic_abnormality 5 HP:0010907 HP:0010907 Abnormality of proline metabolism Phenotypic_abnormality 5 HP:0010908 HP:0010908 Abnormality of lysine metabolism Phenotypic_abnormality 5 HP:0010909 HP:0010909 Abnormality of arginine metabolism Phenotypic_abnormality 5 HP:0010912 HP:0010912 Abnormality of isoleucine metabolism Phenotypic_abnormality 5 HP:0010914 HP:0010914 Abnormality of valine metabolism Phenotypic_abnormality 5 HP:0010916 HP:0010916 Abnormality of alanine metabolism Phenotypic_abnormality 5 HP:0010917 HP:0010917 Abnormality of tyrosine metabolism Phenotypic_abnormality 5 HP:0010918 HP:0010918 Abnormality of cysteine metabolism Phenotypic_abnormality 5 HP:0010919 HP:0010919 Abnormality of homocysteine metabolism Phenotypic_abnormality 5 HP:0010931 HP:0010931 Abnormality of sodium homeostasis Phenotypic_abnormality 5 HP:0010934 HP:0010934 Xanthinuria Phenotypic_abnormality 5 HP:0010937 HP:0010937 Abnormality of the nasal skeleton Phenotypic_abnormality 5 HP:0010938 HP:0010938 Abnormality of the external nose Phenotypic_abnormality 5 HP:0010954 HP:0010954 Hypoplastic right heart Phenotypic_abnormality 5 HP:0010955 HP:0010955 Dilatation of the bladder Phenotypic_abnormality 5 HP:0010959 HP:0010959 Congenital cystic adenomatoid malformation of the lung Phenotypic_abnormality 5 HP:0010961 HP:0010961 Intralobar sequestration Phenotypic_abnormality 5 HP:0010962 HP:0010962 Extralobar sequestration Phenotypic_abnormality 5 HP:0010965 HP:0010965 Abnormality of phytanic acid metabolism Phenotypic_abnormality 5 HP:0010967 HP:0010967 Abnormality of carnitine metabolism Phenotypic_abnormality 5 HP:0010977 HP:0010977 Abnormality of phagocytes Phenotypic_abnormality 5 HP:0010980 HP:0010980 Hyperlipoproteinemia Phenotypic_abnormality 5 HP:0010981 HP:0010981 Hypolipoproteinemia Phenotypic_abnormality 5 HP:0011000 HP:0011000 Aplasia/Hypoplasia of the optic tract Phenotypic_abnormality 5 HP:0011001 HP:0011001 Increased bone mineral density Phenotypic_abnormality 5 HP:0011003 HP:0011003 Severe Myopia Phenotypic_abnormality 5 HP:0011005 HP:0011005 Mixed cirrhosis Phenotypic_abnormality 5 HP:0011020 HP:0011020 Abnormality of mucopolysaccharide metabolism Phenotypic_abnormality 5 HP:0011023 HP:0011023 Abnormality of prostaglandin metabolism Phenotypic_abnormality 5 HP:0011031 HP:0011031 Abnormality of iron homeostasis Phenotypic_abnormality 5 HP:0011042 HP:0011042 Abnormality of potassium homeostasis Phenotypic_abnormality 5 HP:0011096 HP:0011096 Peripheral demyelination Phenotypic_abnormality 5 HP:0011098 HP:0011098 Speech apraxia Phenotypic_abnormality 5 HP:0011105 HP:0011105 Hypervolemia Phenotypic_abnormality 5 HP:0011106 HP:0011106 Hypovolemia Phenotypic_abnormality 5 HP:0011114 HP:0011114 Defective production of NFKB1-dependent cytokines Phenotypic_abnormality 5 HP:0011115 HP:0011115 Abnormality of chemokine secretion Phenotypic_abnormality 5 HP:0011116 HP:0011116 Abnormality of interferon secretion Phenotypic_abnormality 5 HP:0011117 HP:0011117 Abnormality of interleukin secretion Phenotypic_abnormality 5 HP:0011118 HP:0011118 Abnormality of tumor necrosis factor secretion Phenotypic_abnormality 5 HP:0011123 HP:0011123 Inflammatory abnormality of the skin Phenotypic_abnormality 5 HP:0011124 HP:0011124 Abnormality of epidermal morphology Phenotypic_abnormality 5 HP:0011136 HP:0011136 Aplasia of the sweat glands Phenotypic_abnormality 5 HP:0011137 HP:0011137 Non-pruritic urticaria Phenotypic_abnormality 5 HP:0011140 HP:0011140 Gastrointestinal duplication Phenotypic_abnormality 5 HP:0011151 HP:0011151 Obtundation status Phenotypic_abnormality 5 HP:0011153 HP:0011153 Focal motor seizures Phenotypic_abnormality 5 HP:0011154 HP:0011154 Focal autonomic seizures Phenotypic_abnormality 5 HP:0011157 HP:0011157 Auras Phenotypic_abnormality 5 HP:0011169 HP:0011169 Generalized clonic seizures Phenotypic_abnormality 5 HP:0011171 HP:0011171 Simple febrile seizures Phenotypic_abnormality 5 HP:0011172 HP:0011172 Complex febrile seizures Phenotypic_abnormality 5 HP:0011176 HP:0011176 EEG with constitutional variants Phenotypic_abnormality 5 HP:0011182 HP:0011182 Epileptiform EEG discharges Phenotypic_abnormality 5 HP:0011185 HP:0011185 EEG with focal epileptiform discharges Phenotypic_abnormality 5 HP:0011201 HP:0011201 EEG with changes in voltage Phenotypic_abnormality 5 HP:0011202 HP:0011202 EEG with diffuse acceleration Phenotypic_abnormality 5 HP:0011203 HP:0011203 EEG with abnormally slow frequencies Phenotypic_abnormality 5 HP:0011219 HP:0011219 Short face Phenotypic_abnormality 5 HP:0011220 HP:0011220 Prominent forehead Phenotypic_abnormality 5 HP:0011221 HP:0011221 Vertical forehead creases Phenotypic_abnormality 5 HP:0011232 HP:0011232 Infra-orbital fold Phenotypic_abnormality 5 HP:0011233 HP:0011233 Antihelical shelf Phenotypic_abnormality 5 HP:0011234 HP:0011234 Absent antihelix Phenotypic_abnormality 5 HP:0011235 HP:0011235 Additional crus of antihelix Phenotypic_abnormality 5 HP:0011236 HP:0011236 Angulated antihelix Phenotypic_abnormality 5 HP:0011243 HP:0011243 Abnormality of inferior crus of antihelix Phenotypic_abnormality 5 HP:0011244 HP:0011244 Abnormality of stem of antihelix Phenotypic_abnormality 5 HP:0011245 HP:0011245 Abnormality of superior crus of antihelix Phenotypic_abnormality 5 HP:0011248 HP:0011248 Everted antitragus Phenotypic_abnormality 5 HP:0011249 HP:0011249 Absent antitragus Phenotypic_abnormality 5 HP:0011250 HP:0011250 Bifid antitragus Phenotypic_abnormality 5 HP:0011251 HP:0011251 Underdeveloped antitragus Phenotypic_abnormality 5 HP:0011253 HP:0011253 Type I cryptotia Phenotypic_abnormality 5 HP:0011254 HP:0011254 Type II cryptotia Phenotypic_abnormality 5 HP:0011261 HP:0011261 Darwin tubercle of helix Phenotypic_abnormality 5 HP:0011262 HP:0011262 Crimped helix Phenotypic_abnormality 5 HP:0011263 HP:0011263 Forward facing earlobe Phenotypic_abnormality 5 HP:0011264 HP:0011264 Discontinuous ascending root of helix Phenotypic_abnormality 5 HP:0011265 HP:0011265 Cleft earlobe Phenotypic_abnormality 5 HP:0011266 HP:0011266 Microtia, first degree Phenotypic_abnormality 5 HP:0011267 HP:0011267 Microtia, third degree Phenotypic_abnormality 5 HP:0011269 HP:0011269 Bifid tragus Phenotypic_abnormality 5 HP:0011270 HP:0011270 Duplicated tragus Phenotypic_abnormality 5 HP:0011271 HP:0011271 Prominent tragus Phenotypic_abnormality 5 HP:0011274 HP:0011274 Recurrent mycobacterial infections Phenotypic_abnormality 5 HP:0011279 HP:0011279 Abnormality of urine bicarbonate concentration Phenotypic_abnormality 5 HP:0011281 HP:0011281 Abnormality of urine catecholamine concentration Phenotypic_abnormality 5 HP:0011282 HP:0011282 Abnormality of hindbrain morphology Phenotypic_abnormality 5 HP:0011297 HP:0011297 Abnormality of digit Phenotypic_abnormality 5 HP:0011303 HP:0011303 Convex contour of sole Phenotypic_abnormality 5 HP:0011312 HP:0011312 Fused nails Phenotypic_abnormality 5 HP:0011313 HP:0011313 Narrow nail Phenotypic_abnormality 5 HP:0011323 HP:0011323 Cleft of chin Phenotypic_abnormality 5 HP:0011334 HP:0011334 Facial shape deformation Phenotypic_abnormality 5 HP:0011335 HP:0011335 Frontal hirsutism Phenotypic_abnormality 5 HP:0011336 HP:0011336 Bitemporal forceps marks Phenotypic_abnormality 5 HP:0011337 HP:0011337 Abnormality of mouth size Phenotypic_abnormality 5 HP:0011338 HP:0011338 Abnormality of mouth shape Phenotypic_abnormality 5 HP:0011348 HP:0011348 Abnormality of the sixth cranial nerve Phenotypic_abnormality 5 HP:0011359 HP:0011359 Dry hair Phenotypic_abnormality 5 HP:0011360 HP:0011360 Acquired abnormal hair pattern Phenotypic_abnormality 5 HP:0011361 HP:0011361 Congenital abnormal hair pattern Phenotypic_abnormality 5 HP:0011367 HP:0011367 Yellow nails Phenotypic_abnormality 5 HP:0011372 HP:0011372 Aplasia of the inner ear Phenotypic_abnormality 5 HP:0011377 HP:0011377 Aplasia of the vestibule Phenotypic_abnormality 5 HP:0011378 HP:0011378 Hypoplasia of the vestibule of the inner ear Phenotypic_abnormality 5 HP:0011379 HP:0011379 Dilated vestibule of the inner ear Phenotypic_abnormality 5 HP:0011381 HP:0011381 Aplasia of the semicircular canal Phenotypic_abnormality 5 HP:0011382 HP:0011382 Hypoplasia of the semicircular canal Phenotypic_abnormality 5 HP:0011383 HP:0011383 Enlarged semicircular canal Phenotypic_abnormality 5 HP:0011385 HP:0011385 Absent internal auditory canal Phenotypic_abnormality 5 HP:0011386 HP:0011386 Narrow internal auditory canal Phenotypic_abnormality 5 HP:0011387 HP:0011387 Enlarged vestibular aqueduct Phenotypic_abnormality 5 HP:0011388 HP:0011388 Enlarged cochlear aqueduct Phenotypic_abnormality 5 HP:0011392 HP:0011392 Abnormality of the vestibular nerve Phenotypic_abnormality 5 HP:0011395 HP:0011395 Aplasia/Hypoplasia of the cochlea Phenotypic_abnormality 5 HP:0011396 HP:0011396 Abnormality of the cochlear nerve Phenotypic_abnormality 5 HP:0011397 HP:0011397 Abnormality of the dorsal column of the spinal cord Phenotypic_abnormality 5 HP:0011401 HP:0011401 Delayed peripheral myelination Phenotypic_abnormality 5 HP:0011444 HP:0011444 Decorticate rigidity Phenotypic_abnormality 5 HP:0011445 HP:0011445 Athetoid cerebral palsy Phenotypic_abnormality 5 HP:0011448 HP:0011448 Ankle clonus Phenotypic_abnormality 5 HP:0011449 HP:0011449 Knee clonus Phenotypic_abnormality 5 HP:0011453 HP:0011453 Abnormality of the incus Phenotypic_abnormality 5 HP:0011454 HP:0011454 Abnormality of the malleus Phenotypic_abnormality 5 HP:0011469 HP:0011469 Nasal regurgitation Phenotypic_abnormality 5 HP:0011470 HP:0011470 Nasogastric tube feeding in infancy Phenotypic_abnormality 5 HP:0011471 HP:0011471 Gastrostomy tube feeding in infancy Phenotypic_abnormality 5 HP:0011474 HP:0011474 Childhood onset sensorineural hearing impairment Phenotypic_abnormality 5 HP:0011476 HP:0011476 Profound sensorineural hearing impairment Phenotypic_abnormality 5 HP:0011515 HP:0011515 Abnormal stereopsis Phenotypic_abnormality 5 HP:0011524 HP:0011524 Iris melanoma Phenotypic_abnormality 5 HP:0011535 HP:0011535 Abnormal atrial arrangement Phenotypic_abnormality 5 HP:0011540 HP:0011540 Congenitally corrected transposition of the great arteries Phenotypic_abnormality 5 HP:0011541 HP:0011541 Criss-cross atrioventricular valves Phenotypic_abnormality 5 HP:0011543 HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves Phenotypic_abnormality 5 HP:0011544 HP:0011544 L-looping of the right ventricle Phenotypic_abnormality 5 HP:0011546 HP:0011546 Abnormal atrioventricular connection Phenotypic_abnormality 5 HP:0011563 HP:0011563 Abnormal ventriculo-arterial connection Phenotypic_abnormality 5 HP:0011565 HP:0011565 Common atrium Phenotypic_abnormality 5 HP:0011566 HP:0011566 Cor triatriatum dexter Phenotypic_abnormality 5 HP:0011574 HP:0011574 Imperforate atrioventricular valve Phenotypic_abnormality 5 HP:0011599 HP:0011599 Mesocardia Phenotypic_abnormality 5 HP:0011600 HP:0011600 Abnormal direction of ventricular apex Phenotypic_abnormality 5 HP:0011604 HP:0011604 Aortopulmonary window Phenotypic_abnormality 5 HP:0011618 HP:0011618 Pulmonary situs ambiguus with bilateral morphologic right lungs Phenotypic_abnormality 5 HP:0011619 HP:0011619 Pulmonary situs ambiguus with bilateral morphologic left lungs Phenotypic_abnormality 5 HP:0011627 HP:0011627 Aorto-ventricular tunnel Phenotypic_abnormality 5 HP:0011628 HP:0011628 Congenital defect of the pericardium Phenotypic_abnormality 5 HP:0011636 HP:0011636 Abnormal origin of the coronary arteries Phenotypic_abnormality 5 HP:0011641 HP:0011641 Coronary artery fistula Phenotypic_abnormality 5 HP:0011642 HP:0011642 Abnormality of the coronary sinus Phenotypic_abnormality 5 HP:0011660 HP:0011660 Anomalous origin of one pulmonary artery from ascending aorta Phenotypic_abnormality 5 HP:0011666 HP:0011666 Absent right superior vena cava Phenotypic_abnormality 5 HP:0011667 HP:0011667 Bilateral superior vena cava with bridging vein Phenotypic_abnormality 5 HP:0011668 HP:0011668 Bilateral superior vena cava with no bridging vein Phenotypic_abnormality 5 HP:0011669 HP:0011669 Left superior vena cava draining directly to the left atrium Phenotypic_abnormality 5 HP:0011670 HP:0011670 Left superior vena cava draining to coronary sinus Phenotypic_abnormality 5 HP:0011686 HP:0011686 Abnormal coronary artery course Phenotypic_abnormality 5 HP:0011703 HP:0011703 Sinus tachycardia Phenotypic_abnormality 5 HP:0011704 HP:0011704 Sick sinus syndrome Phenotypic_abnormality 5 HP:0011709 HP:0011709 Atrioventricular dissociation Phenotypic_abnormality 5 HP:0011710 HP:0011710 Bundle branch block Phenotypic_abnormality 5 HP:0011714 HP:0011714 Libman-Sacks lesions Phenotypic_abnormality 5 HP:0011724 HP:0011724 Uhl's anomaly Phenotypic_abnormality 5 HP:0011728 HP:0011728 Elbow clonus Phenotypic_abnormality 5 HP:0011734 HP:0011734 Central adrenal insufficiency Phenotypic_abnormality 5 HP:0011743 HP:0011743 Adrenal gland agenesis Phenotypic_abnormality 5 HP:0011752 HP:0011752 Neoplasm of the posterior pituitary Phenotypic_abnormality 5 HP:0011753 HP:0011753 Posterior pituitary dysgenesis Phenotypic_abnormality 5 HP:0011769 HP:0011769 Ectopic parathyroid Phenotypic_abnormality 5 HP:0011770 HP:0011770 Tertiary hyperparathyroidism Phenotypic_abnormality 5 HP:0011771 HP:0011771 Autoimmune hypoparathyroidism Phenotypic_abnormality 5 HP:0011780 HP:0011780 Thyroid hemiagenesis Phenotypic_abnormality 5 HP:0011781 HP:0011781 Thyroid C cell hyperplasia Phenotypic_abnormality 5 HP:0011782 HP:0011782 Thyroid crisis Phenotypic_abnormality 5 HP:0011783 HP:0011783 Thyrotoxicosis from ectopic thyroid tissue Phenotypic_abnormality 5 HP:0011784 HP:0011784 Thyrotoxicosis with diffuse goiter Phenotypic_abnormality 5 HP:0011785 HP:0011785 Thyrotoxicosis with toxic multinodular goitre Phenotypic_abnormality 5 HP:0011786 HP:0011786 Thyrotoxicosis with toxic single thyroid nodule Phenotypic_abnormality 5 HP:0011787 HP:0011787 Central hypothyroidism Phenotypic_abnormality 5 HP:0011790 HP:0011790 Activating thyroid-stimulating hormone receptor (TSHR) defect Phenotypic_abnormality 5 HP:0011791 HP:0011791 Inactivating thyroid-stimulating hormone receptor (TSHR) defect Phenotypic_abnormality 5 HP:0011800 HP:0011800 Midface retrusion Phenotypic_abnormality 5 HP:0011807 HP:0011807 Type 1 muscle fiber atrophy Phenotypic_abnormality 5 HP:0011813 HP:0011813 Increased cerebral lipofuscin Phenotypic_abnormality 5 HP:0011815 HP:0011815 Cephalocele Phenotypic_abnormality 5 HP:0011821 HP:0011821 Abnormality of facial skeleton Phenotypic_abnormality 5 HP:0011822 HP:0011822 Broad chin Phenotypic_abnormality 5 HP:0011823 HP:0011823 Chin with horizontal crease Phenotypic_abnormality 5 HP:0011824 HP:0011824 Chin with H-shaped crease Phenotypic_abnormality 5 HP:0011856 HP:0011856 Pica Phenotypic_abnormality 5 HP:0011858 HP:0011858 Reduced factor IX activity Phenotypic_abnormality 5 HP:0011861 HP:0011861 Bilateral trilobed lungs Phenotypic_abnormality 5 HP:0011870 HP:0011870 Impaired arachidonic acid-induced platelet aggregation Phenotypic_abnormality 5 HP:0011871 HP:0011871 Impaired ristocetin-induced platelet aggregation Phenotypic_abnormality 5 HP:0011872 HP:0011872 Impaired thrombin-induced platelet aggregation Phenotypic_abnormality 5 HP:0011874 HP:0011874 Heparin-induced thrombocytopenia Phenotypic_abnormality 5 HP:0011879 HP:0011879 Decreased platelet glycoprotein Ib-IX-V Phenotypic_abnormality 5 HP:0011881 HP:0011881 Decreased platelet glycoprotein VI Phenotypic_abnormality 5 HP:0011882 HP:0011882 Decreased platelet P2Y12 receptor Phenotypic_abnormality 5 HP:0011894 HP:0011894 Impaired thromboxane A2 agonist-induced platelet aggregation Phenotypic_abnormality 5 HP:0011898 HP:0011898 Abnormality of circulating fibrinogen Phenotypic_abnormality 5 HP:0011906 HP:0011906 Reduced beta/alpha synthesis ratio Phenotypic_abnormality 5 HP:0011907 HP:0011907 Reduced alpha/beta synthesis ratio Phenotypic_abnormality 5 HP:0011922 HP:0011922 Abnormal activity of mitochondrial respiratory chain Phenotypic_abnormality 5 HP:0011934 HP:0011934 Mesenteric artery aneurysm Phenotypic_abnormality 5 HP:0011935 HP:0011935 Decreased urinary urate Phenotypic_abnormality 5 HP:0011942 HP:0011942 Increased urinary sulfite Phenotypic_abnormality 5 HP:0011943 HP:0011943 Increased urinary thiosulfate Phenotypic_abnormality 5 HP:0011945 HP:0011945 Bronchiolitis obliterans organizing pneumonia Phenotypic_abnormality 5 HP:0011946 HP:0011946 Bronchiolitis obliterans Phenotypic_abnormality 5 HP:0011948 HP:0011948 Acute respiratory tract infection Phenotypic_abnormality 5 HP:0011953 HP:0011953 Pulmonary lymphoma Phenotypic_abnormality 5 HP:0011964 HP:0011964 Intermittent painful muscle spasms Phenotypic_abnormality 5 HP:0011966 HP:0011966 Elevated plasma citrulline Phenotypic_abnormality 5 HP:0011972 HP:0011972 Hypoglycorrhachia Phenotypic_abnormality 5 HP:0011986 HP:0011986 Ectopic ossification Phenotypic_abnormality 5 HP:0011994 HP:0011994 Abnormality of the atrial septum Phenotypic_abnormality 5 HP:0011996 HP:0011996 Elevated factor V activity Phenotypic_abnormality 5 HP:0011997 HP:0011997 Postprandial hyperlactemia Phenotypic_abnormality 5 HP:0011999 HP:0011999 Paranoia Phenotypic_abnormality 5 HP:0012026 HP:0012026 Hyperornithinemia Phenotypic_abnormality 5 HP:0012027 HP:0012027 Laryngeal edema Phenotypic_abnormality 5 HP:0012032 HP:0012032 Lipoma Phenotypic_abnormality 5 HP:0012034 HP:0012034 Liposarcoma Phenotypic_abnormality 5 HP:0012041 HP:0012041 Decreased fertility in males Phenotypic_abnormality 5 HP:0012042 HP:0012042 Aspirin-induced asthma Phenotypic_abnormality 5 HP:0012046 HP:0012046 Areflexia of upper limbs Phenotypic_abnormality 5 HP:0012050 HP:0012050 Anasarca Phenotypic_abnormality 5 HP:0012054 HP:0012054 Choroidal melanoma Phenotypic_abnormality 5 HP:0012055 HP:0012055 Ciliary body melanoma Phenotypic_abnormality 5 HP:0012057 HP:0012057 Superficial spreading melanoma Phenotypic_abnormality 5 HP:0012058 HP:0012058 Nodular melanoma Phenotypic_abnormality 5 HP:0012059 HP:0012059 Lentigo maligna melanoma Phenotypic_abnormality 5 HP:0012060 HP:0012060 Acral lentiginous melanoma Phenotypic_abnormality 5 HP:0012063 HP:0012063 Aneurysmal bone cyst Phenotypic_abnormality 5 HP:0012064 HP:0012064 Unicameral bone cyst Phenotypic_abnormality 5 HP:0012065 HP:0012065 Multiple bony cystic lesions Phenotypic_abnormality 5 HP:0012072 HP:0012072 Aciduria Phenotypic_abnormality 5 HP:0012073 HP:0012073 Abnormal urinary acylglycine profile Phenotypic_abnormality 5 HP:0012076 HP:0012076 Borderline personality disorder Phenotypic_abnormality 5 HP:0012077 HP:0012077 Histrionic personality disorder Phenotypic_abnormality 5 HP:0012078 HP:0012078 Motor conduction block Phenotypic_abnormality 5 HP:0012086 HP:0012086 Abnormal urinary color Phenotypic_abnormality 5 HP:0012087 HP:0012087 Abnormal mitochondrial shape Phenotypic_abnormality 5 HP:0012088 HP:0012088 Abnormal urinary odor Phenotypic_abnormality 5 HP:0012092 HP:0012092 Abnormality of exocrine pancreas physiology Phenotypic_abnormality 5 HP:0012093 HP:0012093 Abnormality of endocrine pancreas physiology Phenotypic_abnormality 5 HP:0012094 HP:0012094 Abnormal pancreas size Phenotypic_abnormality 5 HP:0012095 HP:0012095 Multiple joint dislocation Phenotypic_abnormality 5 HP:0012096 HP:0012096 Intracranial epidermoid cyst Phenotypic_abnormality 5 HP:0012097 HP:0012097 Intracranial dermoid cyst Phenotypic_abnormality 5 HP:0012102 HP:0012102 Abnormal mitochondrial number Phenotypic_abnormality 5 HP:0012132 HP:0012132 Erythroid hyperplasia Phenotypic_abnormality 5 HP:0012133 HP:0012133 Erythroid hypoplasia Phenotypic_abnormality 5 HP:0012138 HP:0012138 Granulocytic hyperplasia Phenotypic_abnormality 5 HP:0012139 HP:0012139 Granulocytic hypoplasia Phenotypic_abnormality 5 HP:0012142 HP:0012142 Pancreatic squamous cell carcinoma Phenotypic_abnormality 5 HP:0012147 HP:0012147 Reduced quantity of Von Willebrand factor Phenotypic_abnormality 5 HP:0012148 HP:0012148 Multiple lineage myelodysplasia Phenotypic_abnormality 5 HP:0012149 HP:0012149 Bilineage myelodysplasia Phenotypic_abnormality 5 HP:0012150 HP:0012150 Single lineage myelodysplasia Phenotypic_abnormality 5 HP:0012151 HP:0012151 Hemothorax Phenotypic_abnormality 5 HP:0012154 HP:0012154 Anhedonia Phenotypic_abnormality 5 HP:0012158 HP:0012158 Carotid artery dissection Phenotypic_abnormality 5 HP:0012163 HP:0012163 Carotid artery aneurysm Phenotypic_abnormality 5 HP:0012171 HP:0012171 Stereotypical hand wringing Phenotypic_abnormality 5 HP:0012172 HP:0012172 Stereotypical body rocking Phenotypic_abnormality 5 HP:0012173 HP:0012173 Orthostatic tachycardia Phenotypic_abnormality 5 HP:0012176 HP:0012176 Abnormality of natural killer cells Phenotypic_abnormality 5 HP:0012181 HP:0012181 Entrapment neuropathy Phenotypic_abnormality 5 HP:0012182 HP:0012182 Oropharyngeal squamous cell carcinoma Phenotypic_abnormality 5 HP:0012189 HP:0012189 Hodgkin lymphoma Phenotypic_abnormality 5 HP:0012201 HP:0012201 Reduced prothrombin activity Phenotypic_abnormality 5 HP:0012203 HP:0012203 Onychomycosis Phenotypic_abnormality 5 HP:0012206 HP:0012206 Abnormal sperm motility Phenotypic_abnormality 5 HP:0012210 HP:0012210 Abnormal renal morphology Phenotypic_abnormality 5 HP:0012222 HP:0012222 Arachnoid hemangiomatosis Phenotypic_abnormality 5 HP:0012229 HP:0012229 CSF pleocytosis Phenotypic_abnormality 5 HP:0012240 HP:0012240 Increased intramyocellular lipid droplets Phenotypic_abnormality 5 HP:0012245 HP:0012245 Sex reversal Phenotypic_abnormality 5 HP:0012246 HP:0012246 Oculomotor nerve palsy Phenotypic_abnormality 5 HP:0012250 HP:0012250 ST segment depression Phenotypic_abnormality 5 HP:0012251 HP:0012251 ST segment elevation Phenotypic_abnormality 5 HP:0012255 HP:0012255 Dynein arm defect of motile cilia Phenotypic_abnormality 5 HP:0012258 HP:0012258 Abnormal axonemal organization of motile cilia Phenotypic_abnormality 5 HP:0012260 HP:0012260 Abnormal central microtubular pair morphology of motile cilia Phenotypic_abnormality 5 HP:0012263 HP:0012263 Immotile cilia Phenotypic_abnormality 5 HP:0012264 HP:0012264 Absent central microtubular pair morphology of motile cilia Phenotypic_abnormality 5 HP:0012265 HP:0012265 Ciliary dyskinesia Phenotypic_abnormality 5 HP:0012266 HP:0012266 T-wave alternans Phenotypic_abnormality 5 HP:0012267 HP:0012267 Absent ciliary axoneme radial spokes Phenotypic_abnormality 5 HP:0012270 HP:0012270 Decreased muscle glycogen content Phenotypic_abnormality 5 HP:0012271 HP:0012271 Episodic upper airway obstruction Phenotypic_abnormality 5 HP:0012273 HP:0012273 Increased carotid artery intimal medial thickness Phenotypic_abnormality 5 HP:0012277 HP:0012277 Hypoglycinemia Phenotypic_abnormality 5 HP:0012278 HP:0012278 Abnormality of serine metabolism Phenotypic_abnormality 5 HP:0012293 HP:0012293 Abnormal genital pigmentation Phenotypic_abnormality 5 HP:0012294 HP:0012294 Abnormality of the occipital bone Phenotypic_abnormality 5 HP:0012300 HP:0012300 Ureteral agenesis Phenotypic_abnormality 5 HP:0012303 HP:0012303 Abnormality of the aortic arch Phenotypic_abnormality 5 HP:0012311 HP:0012311 Monocytosis Phenotypic_abnormality 5 HP:0012312 HP:0012312 Monocytopenia Phenotypic_abnormality 5 HP:0012324 HP:0012324 Myeloid leukemia Phenotypic_abnormality 5 HP:0012326 HP:0012326 Abnormality of the celiac artery Phenotypic_abnormality 5 HP:0012329 HP:0012329 Tufted angioma Phenotypic_abnormality 5 HP:0012333 HP:0012333 Abnormal sudomotor regulation Phenotypic_abnormality 5 HP:0012336 HP:0012336 Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration Phenotypic_abnormality 5 HP:0012347 HP:0012347 Abnormal protein N-linked glycosylation Phenotypic_abnormality 5 HP:0012358 HP:0012358 Abnormal protein O-linked glycosylation Phenotypic_abnormality 5 HP:0012368 HP:0012368 Flat face Phenotypic_abnormality 5 HP:0012369 HP:0012369 Malar anomaly Phenotypic_abnormality 5 HP:0012371 HP:0012371 Midface prominence Phenotypic_abnormality 5 HP:0009588 HP:0009588 Vestibular Schwannoma Phenotypic_abnormality 6 HP:0009592 HP:0009592 Astrocytoma Phenotypic_abnormality 6 HP:0009595 HP:0009595 Occasional neurofibromas Phenotypic_abnormality 6 HP:0009713 HP:0009713 Spinal hemangioblastoma Phenotypic_abnormality 6 HP:0009714 HP:0009714 Abnormality of the epididymis Phenotypic_abnormality 6 HP:0009716 HP:0009716 Subependymal nodules Phenotypic_abnormality 6 HP:0009721 HP:0009721 Shagreen patch Phenotypic_abnormality 6 HP:0009732 HP:0009732 Plexiform neurofibroma Phenotypic_abnormality 6 HP:0009735 HP:0009735 Spinal neurofibromas Phenotypic_abnormality 6 HP:0009741 HP:0009741 Nephrosclerosis Phenotypic_abnormality 6 HP:0009744 HP:0009744 Abnormality of the spinal dura mater Phenotypic_abnormality 6 HP:0009745 HP:0009745 Spinalarachnoid cyst Phenotypic_abnormality 6 HP:0009746 HP:0009746 Thick nasal septum Phenotypic_abnormality 6 HP:0009752 HP:0009752 Cleft in skull base Phenotypic_abnormality 6 HP:0009755 HP:0009755 Ankyloblepharon Phenotypic_abnormality 6 HP:0009762 HP:0009762 Facial wrinkling Phenotypic_abnormality 6 HP:0009790 HP:0009790 Hemisacrum (S2-S5) Phenotypic_abnormality 6 HP:0009791 HP:0009791 Bifid sacrum Phenotypic_abnormality 6 HP:0009793 HP:0009793 Presacral teratoma Phenotypic_abnormality 6 HP:0009808 HP:0009808 Anomaly of the upper limb diaphyses Phenotypic_abnormality 6 HP:0009809 HP:0009809 Abnormality of upper limb metaphysis Phenotypic_abnormality 6 HP:0009825 HP:0009825 Aplasia involving bones of the extremities Phenotypic_abnormality 6 HP:0009826 HP:0009826 Limb undergrowth Phenotypic_abnormality 6 HP:0009827 HP:0009827 Amelia Phenotypic_abnormality 6 HP:0009828 HP:0009828 Peromelia Phenotypic_abnormality 6 HP:0009889 HP:0009889 Localized hirsutism Phenotypic_abnormality 6 HP:0009891 HP:0009891 Underdeveloped supraorbital ridges Phenotypic_abnormality 6 HP:0009897 HP:0009897 Horizontal crus of helix Phenotypic_abnormality 6 HP:0009898 HP:0009898 Underdeveloped crus of the helix Phenotypic_abnormality 6 HP:0009899 HP:0009899 Prominent crus of helix Phenotypic_abnormality 6 HP:0009914 HP:0009914 Cyclopia Phenotypic_abnormality 6 HP:0009922 HP:0009922 Persistence of the hyaloid artery Phenotypic_abnormality 6 HP:0009924 HP:0009924 Aplasia/Hypoplasia involving the nose Phenotypic_abnormality 6 HP:0009929 HP:0009929 Abnormality of the columella Phenotypic_abnormality 6 HP:0009930 HP:0009930 Asymmetry of the nares Phenotypic_abnormality 6 HP:0009931 HP:0009931 Enlarged naris Phenotypic_abnormality 6 HP:0009932 HP:0009932 Single naris Phenotypic_abnormality 6 HP:0009933 HP:0009933 Narrow naris Phenotypic_abnormality 6 HP:0009934 HP:0009934 Supernumerary naris Phenotypic_abnormality 6 HP:0009935 HP:0009935 Aplasia/Hypoplasia of the nasal septum Phenotypic_abnormality 6 HP:0009936 HP:0009936 Narrow nasal septum Phenotypic_abnormality 6 HP:0009938 HP:0009938 Sunken cheeks Phenotypic_abnormality 6 HP:0009941 HP:0009941 Asymmetry of the mouth Phenotypic_abnormality 6 HP:0010162 HP:0010162 Absent epiphyses of the toes Phenotypic_abnormality 6 HP:0010163 HP:0010163 Bracket epiphyses of the toes Phenotypic_abnormality 6 HP:0010164 HP:0010164 Cone-shaped epiphyses of the toes Phenotypic_abnormality 6 HP:0010165 HP:0010165 Enlarged epiphyses of the toes Phenotypic_abnormality 6 HP:0010166 HP:0010166 Fragmentation of the epiphyses of the toes Phenotypic_abnormality 6 HP:0010167 HP:0010167 Irregular epiphyses of the toes Phenotypic_abnormality 6 HP:0010168 HP:0010168 Ivory epiphyses of the toes Phenotypic_abnormality 6 HP:0010169 HP:0010169 Pseudoepiphyses of the toes Phenotypic_abnormality 6 HP:0010170 HP:0010170 Small epiphyses of the toes Phenotypic_abnormality 6 HP:0010172 HP:0010172 Triangular epiphyses of the toes Phenotypic_abnormality 6 HP:0010228 HP:0010228 Absent epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010229 HP:0010229 Bracket epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010230 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010231 HP:0010231 Enlarged epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010234 HP:0010234 Ivory epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010236 HP:0010236 Small epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010238 HP:0010238 Triangular epiphyses of the phalanges of the hand Phenotypic_abnormality 6 HP:0010281 HP:0010281 Cleft lower lip Phenotypic_abnormality 6 HP:0010286 HP:0010286 Abnormality of the salivary glands Phenotypic_abnormality 6 HP:0010304 HP:0010304 Spinal meningeal diverticulum Phenotypic_abnormality 6 HP:0010309 HP:0010309 Bifid sternum Phenotypic_abnormality 6 HP:0010310 HP:0010310 Chylothorax Phenotypic_abnormality 6 HP:0010316 HP:0010316 Ebstein's anomaly of the tricuspid valve Phenotypic_abnormality 6 HP:0010442 HP:0010442 Polydactyly Phenotypic_abnormality 6 HP:0010444 HP:0010444 Pulmonary insufficiency Phenotypic_abnormality 6 HP:0010445 HP:0010445 Primum atrial septal defect Phenotypic_abnormality 6 HP:0010446 HP:0010446 Tricuspid stenosis Phenotypic_abnormality 6 HP:0010450 HP:0010450 Esophageal stenosis Phenotypic_abnormality 6 HP:0010457 HP:0010457 Widening of the sacrosciatic notch Phenotypic_abnormality 6 HP:0010458 HP:0010458 Female pseudohermaphroditism Phenotypic_abnormality 6 HP:0010477 HP:0010477 Aplasia of the bladder Phenotypic_abnormality 6 HP:0010479 HP:0010479 Patent urachus Phenotypic_abnormality 6 HP:0010484 HP:0010484 Hypertrophy of the upper limb Phenotypic_abnormality 6 HP:0010485 HP:0010485 Hyperextensibility at elbow Phenotypic_abnormality 6 HP:0010496 HP:0010496 Hypertrophy of the lower limb Phenotypic_abnormality 6 HP:0010497 HP:0010497 Sirenomelia Phenotypic_abnormality 6 HP:0010501 HP:0010501 Limitation of knee mobility Phenotypic_abnormality 6 HP:0010505 HP:0010505 Limitation of movement at ankles Phenotypic_abnormality 6 HP:0010530 HP:0010530 Palatal myoclonus Phenotypic_abnormality 6 HP:0010531 HP:0010531 Spinal myoclonus Phenotypic_abnormality 6 HP:0010532 HP:0010532 Paroxysmal vertigo Phenotypic_abnormality 6 HP:0010534 HP:0010534 Transient global amnesia Phenotypic_abnormality 6 HP:0010536 HP:0010536 Central sleep apnea Phenotypic_abnormality 6 HP:0010538 HP:0010538 Small sella turcica Phenotypic_abnormality 6 HP:0010539 HP:0010539 Thin calvarium Phenotypic_abnormality 6 HP:0010542 HP:0010542 Vestibular nystagmus Phenotypic_abnormality 6 HP:0010544 HP:0010544 Vertical nystagmus Phenotypic_abnormality 6 HP:0010551 HP:0010551 Paraplegia/paraparesis Phenotypic_abnormality 6 HP:0010560 HP:0010560 Undulate clavicles Phenotypic_abnormality 6 HP:0010564 HP:0010564 Bifid epiglottis Phenotypic_abnormality 6 HP:0010565 HP:0010565 Aplasia/Hypoplasia of the Epiglottis Phenotypic_abnormality 6 HP:0010571 HP:0010571 Elevated levels of phytanic acid Phenotypic_abnormality 6 HP:0010620 HP:0010620 Malar prominence Phenotypic_abnormality 6 HP:0010626 HP:0010626 Anterior pituitary agenesis Phenotypic_abnormality 6 HP:0010627 HP:0010627 Anterior pituitary hypoplasia Phenotypic_abnormality 6 HP:0010638 HP:0010638 Elevated alkaline phosphatase of hepatic origin Phenotypic_abnormality 6 HP:0010639 HP:0010639 Elevated alkaline phosphatase of bone origin Phenotypic_abnormality 6 HP:0010641 HP:0010641 Abnormality of the midnasal cavity Phenotypic_abnormality 6 HP:0010646 HP:0010646 Cervical spine instability Phenotypic_abnormality 6 HP:0010653 HP:0010653 Abnormality of the falx cerebri Phenotypic_abnormality 6 HP:0010656 HP:0010656 Abnormal epiphyseal ossification Phenotypic_abnormality 6 HP:0010659 HP:0010659 Patchy variation in bone mineral density Phenotypic_abnormality 6 HP:0010660 HP:0010660 Abnormal hand bone ossification Phenotypic_abnormality 6 HP:0010662 HP:0010662 Abnormality of the diencephalon Phenotypic_abnormality 6 HP:0010668 HP:0010668 Abnormality of the zygomatic bone Phenotypic_abnormality 6 HP:0010675 HP:0010675 Abnormal foot bone ossification Phenotypic_abnormality 6 HP:0010680 HP:0010680 Elevated alkaline phosphatase of renal origin Phenotypic_abnormality 6 HP:0010684 HP:0010684 Low alkaline phosphatase of bone origin Phenotypic_abnormality 6 HP:0010685 HP:0010685 Low alkaline phosphatase of renal origin Phenotypic_abnormality 6 HP:0010686 HP:0010686 Low alkaline phosphatase of hepatic origin Phenotypic_abnormality 6 HP:0010721 HP:0010721 Abnormal hair whorl Phenotypic_abnormality 6 HP:0010724 HP:0010724 Advanced pneumatization of the mastoid process Phenotypic_abnormality 6 HP:0010730 HP:0010730 Double eyebrow Phenotypic_abnormality 6 HP:0010733 HP:0010733 Naevus flammeus of the eyelid Phenotypic_abnormality 6 HP:0010739 HP:0010739 Osteopoikilosis Phenotypic_abnormality 6 HP:0010747 HP:0010747 Medial flaring of the eyebrow Phenotypic_abnormality 6 HP:0010750 HP:0010750 Dermatochalasis Phenotypic_abnormality 6 HP:0010767 HP:0010767 Sacrococcygeal pilonidal abnormality Phenotypic_abnormality 6 HP:0010773 HP:0010773 Partial anomalous pulmonary venous return Phenotypic_abnormality 6 HP:0010777 HP:0010777 Bronchomegaly Phenotypic_abnormality 6 HP:0010778 HP:0010778 Tracheomegaly Phenotypic_abnormality 6 HP:0010788 HP:0010788 Testicular neoplasm Phenotypic_abnormality 6 HP:0010797 HP:0010797 Hemangioblastoma Phenotypic_abnormality 6 HP:0010798 HP:0010798 Lip freckle Phenotypic_abnormality 6 HP:0010801 HP:0010801 Underdeveloped nasolabial fold Phenotypic_abnormality 6 HP:0010805 HP:0010805 Upturned corners of mouth Phenotypic_abnormality 6 HP:0010815 HP:0010815 Nevus sebaceous Phenotypic_abnormality 6 HP:0010820 HP:0010820 Dacrystic seizures Phenotypic_abnormality 6 HP:0010821 HP:0010821 Gelastic seizures Phenotypic_abnormality 6 HP:0010822 HP:0010822 Scintillating scotoma Phenotypic_abnormality 6 HP:0010829 HP:0010829 Impaired temperature sensation Phenotypic_abnormality 6 HP:0010830 HP:0010830 Impaired tactile sensation Phenotypic_abnormality 6 HP:0010831 HP:0010831 Impaired proprioception Phenotypic_abnormality 6 HP:0010832 HP:0010832 Abnormality of pain sensation Phenotypic_abnormality 6 HP:0010835 HP:0010835 Dissociated sensory loss Phenotypic_abnormality 6 HP:0010837 HP:0010837 Decreased serum ceruloplasmin Phenotypic_abnormality 6 HP:0010838 HP:0010838 High nonceruloplasmin-bound serum copper Phenotypic_abnormality 6 HP:0010839 HP:0010839 Increased urinary copper concentration Phenotypic_abnormality 6 HP:0010843 HP:0010843 EEG with focal slow activity Phenotypic_abnormality 6 HP:0010844 HP:0010844 EEG with multifocal slow activity Phenotypic_abnormality 6 HP:0010845 HP:0010845 EEG with generalized slow activity Phenotypic_abnormality 6 HP:0010846 HP:0010846 EEG with persistent abnormal rhythmic activity Phenotypic_abnormality 6 HP:0010854 HP:0010854 EEG with generalized low amplitude activity Phenotypic_abnormality 6 HP:0010855 HP:0010855 EEG with localized low amplitude activity Phenotypic_abnormality 6 HP:0010858 HP:0010858 EEG with hyperventilation-induced epileptiform discharges Phenotypic_abnormality 6 HP:0010862 HP:0010862 Delayed fine motor development Phenotypic_abnormality 6 HP:0010863 HP:0010863 Receptive language delay Phenotypic_abnormality 6 HP:0010877 HP:0010877 Unilateral strabismus Phenotypic_abnormality 6 HP:0010882 HP:0010882 Pulmonary valve atresia Phenotypic_abnormality 6 HP:0010883 HP:0010883 Aortic valve atresia Phenotypic_abnormality 6 HP:0010884 HP:0010884 Acromelia Phenotypic_abnormality 6 HP:0010898 HP:0010898 Abnormality of sarcosine metabolism Phenotypic_abnormality 6 HP:0010906 HP:0010906 Hyperhistidinemia Phenotypic_abnormality 6 HP:0010910 HP:0010910 Hypervalinemia Phenotypic_abnormality 6 HP:0010911 HP:0010911 Hyperleucinemia Phenotypic_abnormality 6 HP:0010913 HP:0010913 Hyperisoleucinemia Phenotypic_abnormality 6 HP:0010939 HP:0010939 Abnormality of the nasal bone Phenotypic_abnormality 6 HP:0010944 HP:0010944 Abnormality of the renal pelvis Phenotypic_abnormality 6 HP:0010950 HP:0010950 Abnormality of the fourth ventricle Phenotypic_abnormality 6 HP:0010951 HP:0010951 Abnormality of the third ventricle Phenotypic_abnormality 6 HP:0010956 HP:0010956 Fetal megacystis Phenotypic_abnormality 6 HP:0010975 HP:0010975 Abnormality of B cell number Phenotypic_abnormality 6 HP:0010999 HP:0010999 Aplasia of the optic tract Phenotypic_abnormality 6 HP:0011002 HP:0011002 Osteopetrosis Phenotypic_abnormality 6 HP:0011027 HP:0011027 Abnormality of the fallopian tube Phenotypic_abnormality 6 HP:0011035 HP:0011035 Abnormality of the renal cortex Phenotypic_abnormality 6 HP:0011036 HP:0011036 Abnormality of renal excretion Phenotypic_abnormality 6 HP:0011038 HP:0011038 Abnormality of renal resorption Phenotypic_abnormality 6 HP:0011041 HP:0011041 Aplasia/Hypoplasia of the cervical spine Phenotypic_abnormality 6 HP:0011100 HP:0011100 Intestinal atresia Phenotypic_abnormality 6 HP:0011103 HP:0011103 Abnormality of the left ventricular outflow tract Phenotypic_abnormality 6 HP:0011119 HP:0011119 Abnormality of the nasal dorsum Phenotypic_abnormality 6 HP:0011125 HP:0011125 Abnormality of dermal melanosomes Phenotypic_abnormality 6 HP:0011128 HP:0011128 Acute esophageal necrosis Phenotypic_abnormality 6 HP:0011130 HP:0011130 Abnormality of renal calyx morphology Phenotypic_abnormality 6 HP:0011139 HP:0011139 Gastric duplication Phenotypic_abnormality 6 HP:0011147 HP:0011147 Typical absence seizures Phenotypic_abnormality 6 HP:0011148 HP:0011148 Absence seizures with special features Phenotypic_abnormality 6 HP:0011155 HP:0011155 Focal autonomic seizures with altered responsiveness Phenotypic_abnormality 6 HP:0011156 HP:0011156 Focal autonomic seizures without altered responsiveness Phenotypic_abnormality 6 HP:0011158 HP:0011158 Auditory auras Phenotypic_abnormality 6 HP:0011159 HP:0011159 Epigastric auras Phenotypic_abnormality 6 HP:0011160 HP:0011160 Gustatory auras Phenotypic_abnormality 6 HP:0011161 HP:0011161 Olfactory Auras Phenotypic_abnormality 6 HP:0011162 HP:0011162 Psychic auras Phenotypic_abnormality 6 HP:0011163 HP:0011163 Somatosensory auras Phenotypic_abnormality 6 HP:0011164 HP:0011164 Vegetative auras Phenotypic_abnormality 6 HP:0011165 HP:0011165 Visual auras Phenotypic_abnormality 6 HP:0011166 HP:0011166 Focal myoclonic seizures Phenotypic_abnormality 6 HP:0011167 HP:0011167 Focal tonic seizures Phenotypic_abnormality 6 HP:0011170 HP:0011170 Myoclonic atonic seizures Phenotypic_abnormality 6 HP:0011173 HP:0011173 Hypokinetic seizures Phenotypic_abnormality 6 HP:0011174 HP:0011174 Hyperkinetic seizures Phenotypic_abnormality 6 HP:0011177 HP:0011177 EEG with 4-5/second background activity Phenotypic_abnormality 6 HP:0011178 HP:0011178 Alpha-EEG Phenotypic_abnormality 6 HP:0011179 HP:0011179 Beta-EEG Phenotypic_abnormality 6 HP:0011181 HP:0011181 Low voltage EEG Phenotypic_abnormality 6 HP:0011198 HP:0011198 EEG with generalized epileptiform discharges Phenotypic_abnormality 6 HP:0011211 HP:0011211 EEG with photoparoxysmal response grade I Phenotypic_abnormality 6 HP:0011212 HP:0011212 EEG with photoparoxysmal response grade II Phenotypic_abnormality 6 HP:0011213 HP:0011213 EEG with photoparoxysmal response grade III Phenotypic_abnormality 6 HP:0011214 HP:0011214 EEG with photoparoxysmal response grade IV Phenotypic_abnormality 6 HP:0011222 HP:0011222 Depressed glabella Phenotypic_abnormality 6 HP:0011225 HP:0011225 Epiblepharon Phenotypic_abnormality 6 HP:0011226 HP:0011226 Aplasia/Hypoplasia affecting the eyelid Phenotypic_abnormality 6 HP:0011228 HP:0011228 Horizontal eyebrow Phenotypic_abnormality 6 HP:0011229 HP:0011229 Broad eyebrow Phenotypic_abnormality 6 HP:0011230 HP:0011230 Laterally extended eyebrow Phenotypic_abnormality 6 HP:0011237 HP:0011237 Broad inferior crus of antihelix Phenotypic_abnormality 6 HP:0011238 HP:0011238 Prominent inferior crus of antihelix Phenotypic_abnormality 6 HP:0011239 HP:0011239 Underdeveloped inferior crus of antihelix Phenotypic_abnormality 6 HP:0011240 HP:0011240 Prominent stem of antihelix Phenotypic_abnormality 6 HP:0011241 HP:0011241 Serpiginous stem of antihelix Phenotypic_abnormality 6 HP:0011242 HP:0011242 Underdeveloped stem of antihelix Phenotypic_abnormality 6 HP:0011246 HP:0011246 Underdeveloped superior crus of antihelix Phenotypic_abnormality 6 HP:0011247 HP:0011247 Prominent superior crus of antihelix Phenotypic_abnormality 6 HP:0011255 HP:0011255 Absent crus of helix Phenotypic_abnormality 6 HP:0011256 HP:0011256 Crus of helix connected to antihelix Phenotypic_abnormality 6 HP:0011257 HP:0011257 Serpiginous crus of helix Phenotypic_abnormality 6 HP:0011258 HP:0011258 Tragal bridge of crus of helix Phenotypic_abnormality 6 HP:0011259 HP:0011259 Expanded terminal portion of crus of helix Phenotypic_abnormality 6 HP:0011260 HP:0011260 Darwin notch of helix Phenotypic_abnormality 6 HP:0011268 HP:0011268 Absent tragus Phenotypic_abnormality 6 HP:0011272 HP:0011272 Underdeveloped tragus Phenotypic_abnormality 6 HP:0011275 HP:0011275 Recurrent mycobacterium avium complex infections Phenotypic_abnormality 6 HP:0011278 HP:0011278 Intrapulmonary sequestration Phenotypic_abnormality 6 HP:0011280 HP:0011280 Abnormality of urine calcium concentration Phenotypic_abnormality 6 HP:0011283 HP:0011283 Abnormality of the metencephalon Phenotypic_abnormality 6 HP:0011331 HP:0011331 Hemifacial atrophy Phenotypic_abnormality 6 HP:0011332 HP:0011332 Hemifacial hypoplasia Phenotypic_abnormality 6 HP:0011333 HP:0011333 Asymmetric crying face Phenotypic_abnormality 6 HP:0011342 HP:0011342 Mild global developmental delay Phenotypic_abnormality 6 HP:0011343 HP:0011343 Moderate global developmental delay Phenotypic_abnormality 6 HP:0011344 HP:0011344 Severe global developmental delay Phenotypic_abnormality 6 HP:0011349 HP:0011349 Abducens palsy Phenotypic_abnormality 6 HP:0011358 HP:0011358 Generalized hypopigmentation of hair Phenotypic_abnormality 6 HP:0011365 HP:0011365 Patchy hypopigmentation of hair Phenotypic_abnormality 6 HP:0011368 HP:0011368 Epidermal thickening Phenotypic_abnormality 6 HP:0011373 HP:0011373 Incomplete partition of the cochlea Phenotypic_abnormality 6 HP:0011375 HP:0011375 Cochlear aplasia Phenotypic_abnormality 6 HP:0011393 HP:0011393 Aplasia of the vestibular nerve. Phenotypic_abnormality 6 HP:0011394 HP:0011394 Hypoplasia of the vestibular nerve Phenotypic_abnormality 6 HP:0011399 HP:0011399 Tibialis atrophy Phenotypic_abnormality 6 HP:0011402 HP:0011402 Demyelinating sensory neuropathy Phenotypic_abnormality 6 HP:0011404 HP:0011404 Lethal short-trunk short stature Phenotypic_abnormality 6 HP:0011405 HP:0011405 Childhood onset short-limb short stature Phenotypic_abnormality 6 HP:0011406 HP:0011406 Infancy onset short-trunk short stature Phenotypic_abnormality 6 HP:0011424 HP:0011424 Increased serum zinc Phenotypic_abnormality 6 HP:0011441 HP:0011441 Abnormality of the medulla oblongata Phenotypic_abnormality 6 HP:0011455 HP:0011455 Absent malleus Phenotypic_abnormality 6 HP:0011456 HP:0011456 Absent stapes Phenotypic_abnormality 6 HP:0011468 HP:0011468 Facial tics Phenotypic_abnormality 6 HP:0011485 HP:0011485 Corneolenticular adhesion Phenotypic_abnormality 6 HP:0011486 HP:0011486 Abnormality of corneal thickness Phenotypic_abnormality 6 HP:0011488 HP:0011488 Abnormality of corneal endothelium Phenotypic_abnormality 6 HP:0011492 HP:0011492 Abnormality of corneal stroma Phenotypic_abnormality 6 HP:0011495 HP:0011495 Abnormality of corneal epithelium Phenotypic_abnormality 6 HP:0011496 HP:0011496 Corneal neovascularization Phenotypic_abnormality 6 HP:0011516 HP:0011516 Rod monochromacy Phenotypic_abnormality 6 HP:0011517 HP:0011517 Cone monochromacy Phenotypic_abnormality 6 HP:0011518 HP:0011518 Dichromacy Phenotypic_abnormality 6 HP:0011519 HP:0011519 Anomalous trichromacy Phenotypic_abnormality 6 HP:0011523 HP:0011523 Iris cyst Phenotypic_abnormality 6 HP:0011525 HP:0011525 Iris nevus Phenotypic_abnormality 6 HP:0011526 HP:0011526 Abnormality of lens shape Phenotypic_abnormality 6 HP:0011531 HP:0011531 Vitreitis Phenotypic_abnormality 6 HP:0011536 HP:0011536 Right atrial isomerism Phenotypic_abnormality 6 HP:0011537 HP:0011537 Left atrial isomerism Phenotypic_abnormality 6 HP:0011538 HP:0011538 Atrial situs inversus Phenotypic_abnormality 6 HP:0011539 HP:0011539 Atrial situs ambiguous Phenotypic_abnormality 6 HP:0011542 HP:0011542 Criss-cross atrioventricular valves with superior-inferior ventricles Phenotypic_abnormality 6 HP:0011547 HP:0011547 Absent left sided atrioventricular connection Phenotypic_abnormality 6 HP:0011548 HP:0011548 Absent right sided atrioventricular connection Phenotypic_abnormality 6 HP:0011552 HP:0011552 Ambiguous atrioventricular connection Phenotypic_abnormality 6 HP:0011553 HP:0011553 Discordant atrioventricular connection Phenotypic_abnormality 6 HP:0011554 HP:0011554 Double inlet atrioventricular connection Phenotypic_abnormality 6 HP:0011555 HP:0011555 Double inlet left ventricle Phenotypic_abnormality 6 HP:0011556 HP:0011556 Double inlet right ventricle Phenotypic_abnormality 6 HP:0011557 HP:0011557 Double inlet to single ventricle of indeterminate morphology Phenotypic_abnormality 6 HP:0011560 HP:0011560 Mitral atresia Phenotypic_abnormality 6 HP:0011561 HP:0011561 Overriding atrioventricular valve Phenotypic_abnormality 6 HP:0011562 HP:0011562 Straddling atrioventricular valve Phenotypic_abnormality 6 HP:0011564 HP:0011564 Mitral valve arcade Phenotypic_abnormality 6 HP:0011568 HP:0011568 Double orifice mitral valve Phenotypic_abnormality 6 HP:0011573 HP:0011573 Hypoplastic tricuspid valve Phenotypic_abnormality 6 HP:0011575 HP:0011575 Imperforate tricuspid valve Phenotypic_abnormality 6 HP:0011576 HP:0011576 Intermediate atrioventricular canal defect Phenotypic_abnormality 6 HP:0011577 HP:0011577 Partial atrioventricular canal defect Phenotypic_abnormality 6 HP:0011578 HP:0011578 Transitional atrioventricular canal defect Phenotypic_abnormality 6 HP:0011579 HP:0011579 Unbalanced atrioventricular canal defect Phenotypic_abnormality 6 HP:0011580 HP:0011580 Short chordae tendineae of the mitral valve Phenotypic_abnormality 6 HP:0011581 HP:0011581 Double outlet left ventricle Phenotypic_abnormality 6 HP:0011582 HP:0011582 Abdominal ectopia cordis Phenotypic_abnormality 6 HP:0011583 HP:0011583 Cervical ectopia cordis Phenotypic_abnormality 6 HP:0011584 HP:0011584 Thoracocervical ectopia cordis Phenotypic_abnormality 6 HP:0011585 HP:0011585 Thoracic ectopia cordis Phenotypic_abnormality 6 HP:0011586 HP:0011586 Thoracoabdominal ectopia cordis Phenotypic_abnormality 6 HP:0011587 HP:0011587 Abnormal branching pattern of the aortic arch Phenotypic_abnormality 6 HP:0011601 HP:0011601 Rightward direction of ventricular apex Phenotypic_abnormality 6 HP:0011602 HP:0011602 Midline direction of ventricular apex Phenotypic_abnormality 6 HP:0011605 HP:0011605 Congenitally corrected transposition of the great arteries with ventricular septal defect Phenotypic_abnormality 6 HP:0011608 HP:0011608 Type II truncus arteriosus Phenotypic_abnormality 6 HP:0011609 HP:0011609 Type III truncus arteriosus Phenotypic_abnormality 6 HP:0011610 HP:0011610 Type IV truncus arteriosus Phenotypic_abnormality 6 HP:0011611 HP:0011611 Interrupted aortic arch Phenotypic_abnormality 6 HP:0011629 HP:0011629 Total absence of the pericardium Phenotypic_abnormality 6 HP:0011630 HP:0011630 Complete diaphragmatic absence of pericardium Phenotypic_abnormality 6 HP:0011631 HP:0011631 Complete right sided absence of pericardium Phenotypic_abnormality 6 HP:0011632 HP:0011632 Partial right sided absence of pericardium Phenotypic_abnormality 6 HP:0011633 HP:0011633 Complete left sided absence of pericardium Phenotypic_abnormality 6 HP:0011634 HP:0011634 Partial left sided absence of pericardium Phenotypic_abnormality 6 HP:0011635 HP:0011635 Partial diaphragmatic absence of pericardium Phenotypic_abnormality 6 HP:0011637 HP:0011637 Anomalous origin of coronary artery from the pulmonary artery Phenotypic_abnormality 6 HP:0011640 HP:0011640 Single coronary artery origin Phenotypic_abnormality 6 HP:0011643 HP:0011643 Coronary sinus atrial septal defect Phenotypic_abnormality 6 HP:0011644 HP:0011644 Coronary sinus diverticulum Phenotypic_abnormality 6 HP:0011648 HP:0011648 Patent ductus arteriosus after birth at term Phenotypic_abnormality 6 HP:0011649 HP:0011649 Patent ductus arteriosus after premature birth Phenotypic_abnormality 6 HP:0011650 HP:0011650 Bilateral ductus arteriosus Phenotypic_abnormality 6 HP:0011651 HP:0011651 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis Phenotypic_abnormality 6 HP:0011652 HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary sten Phenotypic_abnormality 6 HP:0011653 HP:0011653 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis Phenotypic_abnormality 6 HP:0011654 HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosi Phenotypic_abnormality 6 HP:0011655 HP:0011655 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Phenotypic_abnormality 6 HP:0011656 HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis Phenotypic_abnormality 6 HP:0011657 HP:0011657 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis Phenotypic_abnormality 6 HP:0011658 HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Phenotypic_abnormality 6 HP:0011659 HP:0011659 Tetralogy of Fallot with absent pulmonary valve Phenotypic_abnormality 6 HP:0011661 HP:0011661 Anomalous origin of left pulmonary artery from ascending aorta Phenotypic_abnormality 6 HP:0011662 HP:0011662 Tricuspid atresia Phenotypic_abnormality 6 HP:0011663 HP:0011663 Right ventricular cardiomyopathy Phenotypic_abnormality 6 HP:0011665 HP:0011665 Takotsubo cardiomyopathy Phenotypic_abnormality 6 HP:0011676 HP:0011676 Tetralogy of Fallot with absent subarterial conus Phenotypic_abnormality 6 HP:0011677 HP:0011677 Tetralogy of Fallot with atrioventricular canal defect Phenotypic_abnormality 6 HP:0011679 HP:0011679 Tetralogy of Fallot with pulmonary stenosis Phenotypic_abnormality 6 HP:0011680 HP:0011680 Single ventricle of indeterminate morphology Phenotypic_abnormality 6 HP:0011687 HP:0011687 AV nodal tachycardia Phenotypic_abnormality 6 HP:0011688 HP:0011688 Supraventricular tachycardia with an accessory connection mediated pathway Phenotypic_abnormality 6 HP:0011705 HP:0011705 First degree atrioventricular block Phenotypic_abnormality 6 HP:0011706 HP:0011706 Second degree atrioventricular block Phenotypic_abnormality 6 HP:0011712 HP:0011712 Right bundle branch block Phenotypic_abnormality 6 HP:0011713 HP:0011713 Left bundle branch block Phenotypic_abnormality 6 HP:0011715 HP:0011715 Trifascicular block Phenotypic_abnormality 6 HP:0011727 HP:0011727 Peroneal muscle weakness Phenotypic_abnormality 6 HP:0011735 HP:0011735 Adrenocorticotropin (ACTH) deficient adrenal insufficiency Phenotypic_abnormality 6 HP:0011736 HP:0011736 Primary hyperaldosteronism Phenotypic_abnormality 6 HP:0011737 HP:0011737 Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency Phenotypic_abnormality 6 HP:0011738 HP:0011738 Corticotropin-releasing hormone receptor (CRHR) defect Phenotypic_abnormality 6 HP:0011741 HP:0011741 Secondary hyperaldosteronism Phenotypic_abnormality 6 HP:0011744 HP:0011744 Secondary hypercorticolism Phenotypic_abnormality 6 HP:0011748 HP:0011748 Adrenocorticotropic hormone deficiency Phenotypic_abnormality 6 HP:0011749 HP:0011749 Adrenocorticotropic hormone excess Phenotypic_abnormality 6 HP:0011754 HP:0011754 Pituicytoma Phenotypic_abnormality 6 HP:0011755 HP:0011755 Ectopic posterior pituitary Phenotypic_abnormality 6 HP:0011756 HP:0011756 Posterior pituitary agenesis Phenotypic_abnormality 6 HP:0011757 HP:0011757 Posterior pituitary hypoplasia Phenotypic_abnormality 6 HP:0011763 HP:0011763 Pituitary carcinoma Phenotypic_abnormality 6 HP:0011764 HP:0011764 Pituitary spindle cell oncocytoma Phenotypic_abnormality 6 HP:0011765 HP:0011765 Ectopic anterior pituitary Phenotypic_abnormality 6 HP:0011773 HP:0011773 Uninodular goiter Phenotypic_abnormality 6 HP:0011774 HP:0011774 Thyroid follicular adenoma Phenotypic_abnormality 6 HP:0011777 HP:0011777 Thyroid papillary adenoma Phenotypic_abnormality 6 HP:0011778 HP:0011778 Thyroid atypical adenoma Phenotypic_abnormality 6 HP:0011779 HP:0011779 Anaplastic thyroid carcinoma Phenotypic_abnormality 6 HP:0011794 HP:0011794 Embryonal renal neoplasm Phenotypic_abnormality 6 HP:0011798 HP:0011798 Renal oncocytoma Phenotypic_abnormality 6 HP:0011808 HP:0011808 Decreased patellar reflex Phenotypic_abnormality 6 HP:0011825 HP:0011825 Tented philtrum Phenotypic_abnormality 6 HP:0011826 HP:0011826 Philtrum with midline raphe Phenotypic_abnormality 6 HP:0011827 HP:0011827 Malaligned philtral ridges Phenotypic_abnormality 6 HP:0011828 HP:0011828 Midline sinus of philtrum Phenotypic_abnormality 6 HP:0011829 HP:0011829 Narrow philtrum Phenotypic_abnormality 6 HP:0011830 HP:0011830 Abnormality of oral mucosa Phenotypic_abnormality 6 HP:0011838 HP:0011838 Sclerodactyly Phenotypic_abnormality 6 HP:0011839 HP:0011839 Abnormality of T cell number Phenotypic_abnormality 6 HP:0011840 HP:0011840 Abnormality of T cell physiology Phenotypic_abnormality 6 HP:0011841 HP:0011841 Ventricular flutter Phenotypic_abnormality 6 HP:0011851 HP:0011851 Hemopericardium Phenotypic_abnormality 6 HP:0011852 HP:0011852 Chylopericardium Phenotypic_abnormality 6 HP:0011853 HP:0011853 Serous pericardial effusion Phenotypic_abnormality 6 HP:0011863 HP:0011863 Abnormal sternal ossification Phenotypic_abnormality 6 HP:0011868 HP:0011868 Sciatica Phenotypic_abnormality 6 HP:0011886 HP:0011886 Hyphema Phenotypic_abnormality 6 HP:0011887 HP:0011887 Choroid hemorrhage Phenotypic_abnormality 6 HP:0011896 HP:0011896 Subconjunctival hemorrhage Phenotypic_abnormality 6 HP:0011899 HP:0011899 Hyperfibrinogenemia Phenotypic_abnormality 6 HP:0011900 HP:0011900 Hypofibrinogenemia Phenotypic_abnormality 6 HP:0011901 HP:0011901 Dysfibrinogenemia Phenotypic_abnormality 6 HP:0011912 HP:0011912 Abnormality of the glenoid fossa Phenotypic_abnormality 6 HP:0011913 HP:0011913 Lumbar hypertrichosis Phenotypic_abnormality 6 HP:0011914 HP:0011914 Thoracic hypertrichosis Phenotypic_abnormality 6 HP:0011919 HP:0011919 Pleural empyema Phenotypic_abnormality 6 HP:0011920 HP:0011920 Transudative pleural effusion Phenotypic_abnormality 6 HP:0011921 HP:0011921 Exudative pleural effusion Phenotypic_abnormality 6 HP:0011927 HP:0011927 Short digit Phenotypic_abnormality 6 HP:0011949 HP:0011949 Acute infectious pneumonia Phenotypic_abnormality 6 HP:0011950 HP:0011950 Bronchiolitis Phenotypic_abnormality 6 HP:0011951 HP:0011951 Aspiration pneumonia Phenotypic_abnormality 6 HP:0011956 HP:0011956 Intestinal lymphoid nodular hyperplasia Phenotypic_abnormality 6 HP:0011960 HP:0011960 Substantia nigra gliosis Phenotypic_abnormality 6 HP:0011967 HP:0011967 Hypocupremia Phenotypic_abnormality 6 HP:0011971 HP:0011971 Dermatographic urticaria Phenotypic_abnormality 6 HP:0011973 HP:0011973 Paroxysmal lethargy Phenotypic_abnormality 6 HP:0011976 HP:0011976 Elevated urinary catecholamines Phenotypic_abnormality 6 HP:0011985 HP:0011985 Acholic stools Phenotypic_abnormality 6 HP:0011987 HP:0011987 Ectopic ossification in muscle tissue Phenotypic_abnormality 6 HP:0011988 HP:0011988 Ectopic ossification in tendon tissue Phenotypic_abnormality 6 HP:0011989 HP:0011989 Ectopic ossification in ligament tissue Phenotypic_abnormality 6 HP:0011995 HP:0011995 Atrial septal aneurysm Phenotypic_abnormality 6 HP:0011998 HP:0011998 Postprandial hyperglycemia Phenotypic_abnormality 6 HP:0012002 HP:0012002 Experiential auras Phenotypic_abnormality 6 HP:0012028 HP:0012028 Hepatocellular adenoma Phenotypic_abnormality 6 HP:0012033 HP:0012033 Sacral lipoma Phenotypic_abnormality 6 HP:0012043 HP:0012043 Pendular nystagmus Phenotypic_abnormality 6 HP:0012049 HP:0012049 Laryngeal dystonia Phenotypic_abnormality 6 HP:0012051 HP:0012051 Reactive hypoglycemia Phenotypic_abnormality 6 HP:0012071 HP:0012071 Abnormality of acetylcarnitine metabolism Phenotypic_abnormality 6 HP:0012085 HP:0012085 Pyuria Phenotypic_abnormality 6 HP:0012118 HP:0012118 Laryngeal carcinoma Phenotypic_abnormality 6 HP:0012121 HP:0012121 Panuveitis Phenotypic_abnormality 6 HP:0012122 HP:0012122 Anterior uveitis Phenotypic_abnormality 6 HP:0012123 HP:0012123 Posterior uveitis Phenotypic_abnormality 6 HP:0012124 HP:0012124 Intermediate uveitis Phenotypic_abnormality 6 HP:0012155 HP:0012155 Decreased corneal sensation Phenotypic_abnormality 6 HP:0012156 HP:0012156 Hemophagocytosis Phenotypic_abnormality 6 HP:0012159 HP:0012159 Internal carotid artery dissection Phenotypic_abnormality 6 HP:0012161 HP:0012161 External carotid artery dissection Phenotypic_abnormality 6 HP:0012162 HP:0012162 Common carotid artery dissection Phenotypic_abnormality 6 HP:0012165 HP:0012165 Oligodactyly Phenotypic_abnormality 6 HP:0012177 HP:0012177 Abnormal natural killer cell physiology Phenotypic_abnormality 6 HP:0012179 HP:0012179 Craniofacial dystonia Phenotypic_abnormality 6 HP:0012184 HP:0012184 Hyperalphalipoproteinemia Phenotypic_abnormality 6 HP:0012185 HP:0012185 Constrictive median neuropathy Phenotypic_abnormality 6 HP:0012186 HP:0012186 Entrapment neuropathy of the ulnar nerve at elbow Phenotypic_abnormality 6 HP:0012190 HP:0012190 T-cell lymphoma Phenotypic_abnormality 6 HP:0012191 HP:0012191 B-cell lymphoma Phenotypic_abnormality 6 HP:0012205 HP:0012205 Globozoospermia Phenotypic_abnormality 6 HP:0012207 HP:0012207 Reduced sperm motility Phenotypic_abnormality 6 HP:0012208 HP:0012208 Nonmotile sperm Phenotypic_abnormality 6 HP:0012209 HP:0012209 Juvenile myelomonocytic leukemia Phenotypic_abnormality 6 HP:0012212 HP:0012212 Abnormal glomerular filtration rate Phenotypic_abnormality 6 HP:0012216 HP:0012216 Entrapment neuropathy of suprascapular nerve Phenotypic_abnormality 6 HP:0012219 HP:0012219 Erythema nodosum Phenotypic_abnormality 6 HP:0012238 HP:0012238 Hyperchylomicronemia Phenotypic_abnormality 6 HP:0012268 HP:0012268 Myxoid liposarcoma Phenotypic_abnormality 6 HP:0012279 HP:0012279 Hyposerinemia Phenotypic_abnormality 6 HP:0012302 HP:0012302 Herpes simplex encephalitis Phenotypic_abnormality 6 HP:0012304 HP:0012304 Hypoplastic aortic arch Phenotypic_abnormality 6 HP:0012305 HP:0012305 Coarctation of the descending aortic arch Phenotypic_abnormality 6 HP:0012308 HP:0012308 Decreased serum complement C9 Phenotypic_abnormality 6 HP:0012317 HP:0012317 Sacroiliac arthritis Phenotypic_abnormality 6 HP:0012322 HP:0012322 Perifolliculitis Phenotypic_abnormality 6 HP:0012323 HP:0012323 Sleep myoclonus Phenotypic_abnormality 6 HP:0012325 HP:0012325 Chronic myelomonocytic leukemia Phenotypic_abnormality 6 HP:0012327 HP:0012327 Celiac artery compression Phenotypic_abnormality 6 HP:0012334 HP:0012334 Extrahepatic cholestasis Phenotypic_abnormality 6 HP:0012343 HP:0012343 Decreased serum ferritin Phenotypic_abnormality 6 HP:0012344 HP:0012344 Morphea Phenotypic_abnormality 6 HP:0012348 HP:0012348 Decreased galactosylation of N-linked protein glycosylation Phenotypic_abnormality 6 HP:0012349 HP:0012349 Abnormal sialylation of N-linked protein glycosylation Phenotypic_abnormality 6 HP:0012352 HP:0012352 Abnormal fucosylation of protein N-linked glycosylation Phenotypic_abnormality 6 HP:0012355 HP:0012355 Abnormal mannosylation of N-linked protein glycosylation Phenotypic_abnormality 6 HP:0012359 HP:0012359 Abnormal fucosylation of O-linked protein glycosylation Phenotypic_abnormality 6 HP:0012362 HP:0012362 Abnormal sialylation of O-linked protein glycosylation Phenotypic_abnormality 6 HP:0004268 HP:0004268 Osteoarthritis of the small joints of the hand Phenotypic_abnormality 6 HP:0004271 HP:0004271 Cortical thickening of hand bones Phenotypic_abnormality 6 HP:0004272 HP:0004272 Cortical thinning of hand bones Phenotypic_abnormality 6 HP:0004288 HP:0004288 Pseudoepiphyses of hand bones Phenotypic_abnormality 6 HP:0004295 HP:0004295 Abnormality of the gastric mucosa Phenotypic_abnormality 6 HP:0004319 HP:0004319 Hypoaldosteronism Phenotypic_abnormality 6 HP:0004330 HP:0004330 Increased skull ossification Phenotypic_abnormality 6 HP:0004333 HP:0004333 Bone-marrow foam cells Phenotypic_abnormality 6 HP:0004344 HP:0004344 Abnormality of cerebrosidase metabolism Phenotypic_abnormality 6 HP:0004345 HP:0004345 Abnormality of ganglioside metabolism Phenotypic_abnormality 6 HP:0004374 HP:0004374 Hemiplegia/hemiparesis Phenotypic_abnormality 6 HP:0004376 HP:0004376 Neuroblastic tumors Phenotypic_abnormality 6 HP:0004378 HP:0004378 Abnormality of the anus Phenotypic_abnormality 6 HP:0004380 HP:0004380 Aortic valve calcification Phenotypic_abnormality 6 HP:0004382 HP:0004382 Mitral valve calcification Phenotypic_abnormality 6 HP:0004384 HP:0004384 Type I truncus arteriosus Phenotypic_abnormality 6 HP:0004387 HP:0004387 Enterocolitis Phenotypic_abnormality 6 HP:0004389 HP:0004389 Intestinal pseudo-obstruction Phenotypic_abnormality 6 HP:0004400 HP:0004400 Abnormality of the pylorus Phenotypic_abnormality 6 HP:0004406 HP:0004406 Spontaneous, recurrent epistaxis Phenotypic_abnormality 6 HP:0004409 HP:0004409 Hyposmia Phenotypic_abnormality 6 HP:0004411 HP:0004411 Deviated nasal septum Phenotypic_abnormality 6 HP:0004434 HP:0004434 C8 deficiency Phenotypic_abnormality 6 HP:0004464 HP:0004464 Postauricular pit Phenotypic_abnormality 6 HP:0004467 HP:0004467 Preauricular pit Phenotypic_abnormality 6 HP:0004468 HP:0004468 Anomalous tracheal cartilage Phenotypic_abnormality 6 HP:0004469 HP:0004469 Chronic bronchitis Phenotypic_abnormality 6 HP:0004470 HP:0004470 Atretic occipital cephalocele Phenotypic_abnormality 6 HP:0004484 HP:0004484 Craniofacial asymmetry Phenotypic_abnormality 6 HP:0004523 HP:0004523 Long eyebrows Phenotypic_abnormality 6 HP:0004524 HP:0004524 Temporal hypotrichosis Phenotypic_abnormality 6 HP:0004527 HP:0004527 large clumps of pigment irregularly distributed along hair shaft Phenotypic_abnormality 6 HP:0004528 HP:0004528 Generalized hypotrichosis Phenotypic_abnormality 6 HP:0004532 HP:0004532 Sacral hypertrichosis Phenotypic_abnormality 6 HP:0004535 HP:0004535 Anterior cervical hypertrichosis Phenotypic_abnormality 6 HP:0004540 HP:0004540 Congenital, generalized hypertrichosis Phenotypic_abnormality 6 HP:0004554 HP:0004554 Generalized hypertrichosis Phenotypic_abnormality 6 HP:0004558 HP:0004558 Cervical platyspondyly Phenotypic_abnormality 6 HP:0004563 HP:0004563 increased spinal bone density Phenotypic_abnormality 6 HP:0004571 HP:0004571 Widening of cervical spinal canal Phenotypic_abnormality 6 HP:0004589 HP:0004589 Dysplasia of second lumbar vertebra Phenotypic_abnormality 6 HP:0004608 HP:0004608 Anteriorly placed odontoid process Phenotypic_abnormality 6 HP:0004610 HP:0004610 Lumbar spinal canal stenosis Phenotypic_abnormality 6 HP:0004631 HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles Phenotypic_abnormality 6 HP:0004637 HP:0004637 Decreased cervical spine mobility Phenotypic_abnormality 6 HP:0004660 HP:0004660 Hypoplasia of facial musculature Phenotypic_abnormality 6 HP:0004664 HP:0004664 Facial midline hemangioma Phenotypic_abnormality 6 HP:0004681 HP:0004681 Deep longitudinal plantar crease Phenotypic_abnormality 6 HP:0004712 HP:0004712 Renal malrotation Phenotypic_abnormality 6 HP:0004719 HP:0004719 Hyperechogenic kidneys Phenotypic_abnormality 6 HP:0004742 HP:0004742 Abnormality of the renal collecting system Phenotypic_abnormality 6 HP:0004751 HP:0004751 Paroxysmal ventricular tachycardia Phenotypic_abnormality 6 HP:0004752 HP:0004752 Congenital atrioventricular dissociation Phenotypic_abnormality 6 HP:0004758 HP:0004758 Effort-induced polymorphic ventricular tachycardias Phenotypic_abnormality 6 HP:0004759 HP:0004759 Nodular calcific aortic valve disease Phenotypic_abnormality 6 HP:0004762 HP:0004762 Hypoplasia of right ventricle Phenotypic_abnormality 6 HP:0004763 HP:0004763 Paroxysmal supraventricular tachycardia Phenotypic_abnormality 6 HP:0004764 HP:0004764 Myxomatous mitral valve degeneration Phenotypic_abnormality 6 HP:0004765 HP:0004765 Episodic supraventricular tachycardia Phenotypic_abnormality 6 HP:0004771 HP:0004771 Premature graying of body hair Phenotypic_abnormality 6 HP:0004779 HP:0004779 Brittle scalp hair Phenotypic_abnormality 6 HP:0004780 HP:0004780 Elbow hypertrichosis Phenotypic_abnormality 6 HP:0004782 HP:0004782 Hypotrichosis of the scalp Phenotypic_abnormality 6 HP:0004791 HP:0004791 Esophageal ulceration Phenotypic_abnormality 6 HP:0004802 HP:0004802 Episodic hemolytic anemia Phenotypic_abnormality 6 HP:0004804 HP:0004804 Congenital hemolytic anemia Phenotypic_abnormality 6 HP:0004808 HP:0004808 Acute myeloid leukemia Phenotypic_abnormality 6 HP:0004810 HP:0004810 Congenital hypoplastic anemia Phenotypic_abnormality 6 HP:0004814 HP:0004814 Fava bean-induced hemolytic anemia Phenotypic_abnormality 6 HP:0004817 HP:0004817 Drug-sensitive hemolytic anemia Phenotypic_abnormality 6 HP:0004818 HP:0004818 Paroxysmal nocturnal hemoglobinuria Phenotypic_abnormality 6 HP:0004819 HP:0004819 Normocytic hypoplastic anemia Phenotypic_abnormality 6 HP:0004820 HP:0004820 Acute myelomonocytic leukemia Phenotypic_abnormality 6 HP:0004828 HP:0004828 Refractory anemia with ringed sideroblasts Phenotypic_abnormality 6 HP:0004836 HP:0004836 Acute promyelocytic leukemia Phenotypic_abnormality 6 HP:0004840 HP:0004840 Hypochromic microcytic anemia Phenotypic_abnormality 6 HP:0004844 HP:0004844 Coombs-positive hemolytic anemia Phenotypic_abnormality 6 HP:0004845 HP:0004845 Acute monocytic leukemia Phenotypic_abnormality 6 HP:0004856 HP:0004856 Normochromic microcytic anemia Phenotypic_abnormality 6 HP:0004857 HP:0004857 Hyperchromic macrocytic anemia Phenotypic_abnormality 6 HP:0004861 HP:0004861 refractory macrocytic anemia Phenotypic_abnormality 6 HP:0004863 HP:0004863 Compensated hemolytic anemia Phenotypic_abnormality 6 HP:0004864 HP:0004864 Refractory sideroblastic anemia Phenotypic_abnormality 6 HP:0004870 HP:0004870 Chronic hemolytic anemia Phenotypic_abnormality 6 HP:0004876 HP:0004876 Spontaneous neonatal pneumothorax Phenotypic_abnormality 6 HP:0004880 HP:0004880 Respiratory infections in early life Phenotypic_abnormality 6 HP:0004889 HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness Phenotypic_abnormality 6 HP:0004891 HP:0004891 Recurrent infections due to aspiration Phenotypic_abnormality 6 HP:0004894 HP:0004894 Laryngotracheal stenosis Phenotypic_abnormality 6 HP:0004909 HP:0004909 hypokalemic hypochloremic metabolic alkalosis Phenotypic_abnormality 6 HP:0004922 HP:0004922 Atypical hyperphenylalaninemia Phenotypic_abnormality 6 HP:0004923 HP:0004923 Hyperphenylalaninemia Phenotypic_abnormality 6 HP:0004926 HP:0004926 Orthostatic hypotension due to autonomic dysfunction Phenotypic_abnormality 6 HP:0004933 HP:0004933 Ascending aortic dissection Phenotypic_abnormality 6 HP:0004940 HP:0004940 Generalized arterial calcification Phenotypic_abnormality 6 HP:0004941 HP:0004941 Extrahepatic portal hypertension Phenotypic_abnormality 6 HP:0004950 HP:0004950 Peripheral arterial disease Phenotypic_abnormality 6 HP:0004959 HP:0004959 Dilatation of the descending thoracic aorta Phenotypic_abnormality 6 HP:0004969 HP:0004969 Peripheral pulmonary artery stenosis Phenotypic_abnormality 6 HP:0004974 HP:0004974 Coarctation of abdominal aorta Phenotypic_abnormality 6 HP:0004979 HP:0004979 Metaphyseal sclerosis Phenotypic_abnormality 6 HP:0004980 HP:0004980 Metaphyseal rarefaction Phenotypic_abnormality 6 HP:0005003 HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis Phenotypic_abnormality 6 HP:0005039 HP:0005039 Multiple long-bone exostoses Phenotypic_abnormality 6 HP:0005054 HP:0005054 Metaphyseal spurs Phenotypic_abnormality 6 HP:0005063 HP:0005063 Fragmented, irregular epiphyses Phenotypic_abnormality 6 HP:0005066 HP:0005066 Cone-shaped epiphyses fused within their metaphyses Phenotypic_abnormality 6 HP:0005072 HP:0005072 Hyperextensibility at wrists Phenotypic_abnormality 6 HP:0005086 HP:0005086 Knee osteoarthritis Phenotypic_abnormality 6 HP:0005089 HP:0005089 Abnormal metaphyseal trabeculation Phenotypic_abnormality 6 HP:0005093 HP:0005093 Absent proximal radial epiphyses Phenotypic_abnormality 6 HP:0005111 HP:0005111 Dilatation of the ascending aorta Phenotypic_abnormality 6 HP:0005112 HP:0005112 Dilatation of the abdominal aorta Phenotypic_abnormality 6 HP:0005113 HP:0005113 Dilatation of the aortic arch Phenotypic_abnormality 6 HP:0005133 HP:0005133 Right ventricular dilatation Phenotypic_abnormality 6 HP:0005134 HP:0005134 Absence of the pulmonary valve Phenotypic_abnormality 6 HP:0005141 HP:0005141 Episodes of ventricular tachycardia Phenotypic_abnormality 6 HP:0005143 HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta Phenotypic_abnormality 6 HP:0005144 HP:0005144 Left ventricular septal hypertrophy Phenotypic_abnormality 6 HP:0005148 HP:0005148 Pulmonary valve defects Phenotypic_abnormality 6 HP:0005152 HP:0005152 Oncocytic cardiomyopathy Phenotypic_abnormality 6 HP:0005160 HP:0005160 Total anomalous pulmonary venous return Phenotypic_abnormality 6 HP:0005162 HP:0005162 Impaired left ventricular function Phenotypic_abnormality 6 HP:0005164 HP:0005164 Dysplastic pulmonary valve Phenotypic_abnormality 6 HP:0005176 HP:0005176 Dysplastic aortic valve Phenotypic_abnormality 6 HP:0005180 HP:0005180 Tricuspid regurgitation Phenotypic_abnormality 6 HP:0005182 HP:0005182 Bicuspid pulmonary valve Phenotypic_abnormality 6 HP:0005193 HP:0005193 Restricted large joint movement Phenotypic_abnormality 6 HP:0005202 HP:0005202 Helicobacter pylori infection Phenotypic_abnormality 6 HP:0005203 HP:0005203 Spontaneous esophageal perforation Phenotypic_abnormality 6 HP:0005207 HP:0005207 Gastric hypertrophy Phenotypic_abnormality 6 HP:0005214 HP:0005214 Intestinal obstruction Phenotypic_abnormality 6 HP:0005215 HP:0005215 Frequent Giardia lamblia infestation Phenotypic_abnormality 6 HP:0005219 HP:0005219 Absence of intrinsic factor Phenotypic_abnormality 6 HP:0005222 HP:0005222 Bowel diverticulosis Phenotypic_abnormality 6 HP:0005234 HP:0005234 Neonatal intestinal obstruction Phenotypic_abnormality 6 HP:0005236 HP:0005236 Chronic calcifying pancreatitis Phenotypic_abnormality 6 HP:0005240 HP:0005240 Esophageal obstruction Phenotypic_abnormality 6 HP:0005245 HP:0005245 Intestinal hypoplasia Phenotypic_abnormality 6 HP:0005249 HP:0005249 Functional intestinal obstruction Phenotypic_abnormality 6 HP:0005254 HP:0005254 Unilateral chest hypoplasia Phenotypic_abnormality 6 HP:0005259 HP:0005259 Abnormal facility in opposing the shoulders Phenotypic_abnormality 6 HP:0005272 HP:0005272 Prominent nasolabial fold Phenotypic_abnormality 6 HP:0005280 HP:0005280 Depressed nasal bridge Phenotypic_abnormality 6 HP:0005281 HP:0005281 Hypoplastic nasal bridge Phenotypic_abnormality 6 HP:0005285 HP:0005285 Absent nasal bridge Phenotypic_abnormality 6 HP:0005295 HP:0005295 Pseudocoarctation of the aorta Phenotypic_abnormality 6 HP:0005298 HP:0005298 Atrioventricular canal defect with right ventricle aorta and pulmonary atresia Phenotypic_abnormality 6 HP:0005307 HP:0005307 Postural hypotension with compensatory tachycardia Phenotypic_abnormality 6 HP:0005321 HP:0005321 Mandibulofacial dysostosis Phenotypic_abnormality 6 HP:0005322 HP:0005322 Prominent nasal septum Phenotypic_abnormality 6 HP:0005323 HP:0005323 Hemifacial hypertrophy Phenotypic_abnormality 6 HP:0005326 HP:0005326 Hypoplastic philtrum Phenotypic_abnormality 6 HP:0005327 HP:0005327 Loss of facial expression Phenotypic_abnormality 6 HP:0005329 HP:0005329 Fixed facial expression Phenotypic_abnormality 6 HP:0005335 HP:0005335 Sleepy facial expression Phenotypic_abnormality 6 HP:0005340 HP:0005340 Spastic/hyperactive bladder Phenotypic_abnormality 6 HP:0005341 HP:0005341 Autonomic bladder dysfunction Phenotypic_abnormality 6 HP:0005343 HP:0005343 Hypoplasia of the bladder Phenotypic_abnormality 6 HP:0005347 HP:0005347 Cartilaginous trachea Phenotypic_abnormality 6 HP:0005356 HP:0005356 Decreased serum complement factor I Phenotypic_abnormality 6 HP:0005366 HP:0005366 Recurrent streptococcus pneumoniae infections Phenotypic_abnormality 6 HP:0005369 HP:0005369 Decreased serum complement factor H Phenotypic_abnormality 6 HP:0005372 HP:0005372 Abnormality of B cell physiology Phenotypic_abnormality 6 HP:0005376 HP:0005376 Recurrent Haemophilus influenzae infections Phenotypic_abnormality 6 HP:0005389 HP:0005389 Depletion of components of the alternative complement pathway Phenotypic_abnormality 6 HP:0005404 HP:0005404 Increase in B cell number Phenotypic_abnormality 6 HP:0005416 HP:0005416 Decreased serum complement factor B Phenotypic_abnormality 6 HP:0005421 HP:0005421 Decreased serum complement C3 Phenotypic_abnormality 6 HP:0005423 HP:0005423 Dysfunctional alternative complement pathway Phenotypic_abnormality 6 HP:0005425 HP:0005425 Recurrent sinopulmonary infections Phenotypic_abnormality 6 HP:0005430 HP:0005430 Recurrent Neisserial infections Phenotypic_abnormality 6 HP:0005464 HP:0005464 Craniofacial osteosclerosis Phenotypic_abnormality 6 HP:0005465 HP:0005465 Facial hyperostosis Phenotypic_abnormality 6 HP:0005474 HP:0005474 Decreased calvarial ossification Phenotypic_abnormality 6 HP:0005506 HP:0005506 Chronic myelogenous leukemia Phenotypic_abnormality 6 HP:0005511 HP:0005511 Heinz body anemia Phenotypic_abnormality 6 HP:0005522 HP:0005522 Pyridoxine-responsive sideroblastic anemia Phenotypic_abnormality 6 HP:0005524 HP:0005524 Macrocytic hemolytic disease Phenotypic_abnormality 6 HP:0005525 HP:0005525 Spontaneous hemolytic crises Phenotypic_abnormality 6 HP:0005531 HP:0005531 Biphenotypic acute leukaemia Phenotypic_abnormality 6 HP:0005532 HP:0005532 Macrocytic dyserythropoietic anemia Phenotypic_abnormality 6 HP:0005534 HP:0005534 Transient myeloproliferative syndrome Phenotypic_abnormality 6 HP:0005535 HP:0005535 Exercise-induced hemolysis Phenotypic_abnormality 6 HP:0005539 HP:0005539 T-cell chronic lymphocytic lymphoma/leukemia Phenotypic_abnormality 6 HP:0005550 HP:0005550 Chronic lymphatic leukemia Phenotypic_abnormality 6 HP:0005575 HP:0005575 Hemolytic-uremic syndrome Phenotypic_abnormality 6 HP:0005584 HP:0005584 Renal cell carcinoma Phenotypic_abnormality 6 HP:0005587 HP:0005587 Profuse pigmented skin lesions Phenotypic_abnormality 6 HP:0005619 HP:0005619 Thoracolumbar kyphosis Phenotypic_abnormality 6 HP:0005620 HP:0005620 Hypermobility of interphalangeal joints Phenotypic_abnormality 6 HP:0005625 HP:0005625 Osteoporosis of vertebrae Phenotypic_abnormality 6 HP:0005639 HP:0005639 Hyperextensible hand joints Phenotypic_abnormality 6 HP:0005655 HP:0005655 Multiple digital exostoses Phenotypic_abnormality 6 HP:0005681 HP:0005681 Juvenile rheumatoid arthritis Phenotypic_abnormality 6 HP:0005686 HP:0005686 Patchy osteosclerosis Phenotypic_abnormality 6 HP:0005692 HP:0005692 Joint hyperflexibility Phenotypic_abnormality 6 HP:0005700 HP:0005700 Increased bone density with cystic changes Phenotypic_abnormality 6 HP:0005715 HP:0005715 Flattened knee epiphyses Phenotypic_abnormality 6 HP:0005733 HP:0005733 Spinal stenosis with reduced interpedicular distance Phenotypic_abnormality 6 HP:0005764 HP:0005764 Polyarticular arthritis Phenotypic_abnormality 6 HP:0005765 HP:0005765 Sacral meningocele Phenotypic_abnormality 6 HP:0005781 HP:0005781 Contractures of the large joints Phenotypic_abnormality 6 HP:0005789 HP:0005789 Generalized osteosclerosis Phenotypic_abnormality 6 HP:0005841 HP:0005841 Calcific stippling of infantile cartilaginous skeleton Phenotypic_abnormality 6 HP:0005868 HP:0005868 Metaphyseal enchondromatosis Phenotypic_abnormality 6 HP:0005876 HP:0005876 Progressive flexion contractures Phenotypic_abnormality 6 HP:0005877 HP:0005877 Multiple small vertebral fractures Phenotypic_abnormality 6 HP:0005878 HP:0005878 Enlarged sagittal diameter of the cervical canal Phenotypic_abnormality 6 HP:0005899 HP:0005899 Metaphyseal dysostosis Phenotypic_abnormality 6 HP:0005905 HP:0005905 Abnormal cervical curvature Phenotypic_abnormality 6 HP:0005906 HP:0005906 Delayed pneumatization of the mastoid process Phenotypic_abnormality 6 HP:0005934 HP:0005934 Imperfect vocal cord adduction Phenotypic_abnormality 6 HP:0005941 HP:0005941 Intermittent hyperpnea at rest Phenotypic_abnormality 6 HP:0005946 HP:0005946 Ventilator dependence with inability to wean Phenotypic_abnormality 6 HP:0005961 HP:0005961 Hypoargininemia Phenotypic_abnormality 6 HP:0005982 HP:0005982 Reduced phenylalanine hydroxylase activity Phenotypic_abnormality 6 HP:0005987 HP:0005987 Multinodular goiter Phenotypic_abnormality 6 HP:0006009 HP:0006009 Broad phalanx Phenotypic_abnormality 6 HP:0006059 HP:0006059 Cone-shaped metacarpal epiphyses Phenotypic_abnormality 6 HP:0006064 HP:0006064 Limited interphalangeal movement Phenotypic_abnormality 6 HP:0006134 HP:0006134 Enlarged metacarpal epiphyses Phenotypic_abnormality 6 HP:0006172 HP:0006172 Flattened, squared-off epiphyses of tubular bones Phenotypic_abnormality 6 HP:0006174 HP:0006174 Metacarpal diaphyseal endosteal sclerosis Phenotypic_abnormality 6 HP:0006203 HP:0006203 Decreased movement range in interphalangeal joints Phenotypic_abnormality 6 HP:0006248 HP:0006248 Limited wrist movement Phenotypic_abnormality 6 HP:0006277 HP:0006277 Pancreatic hyperplasia Phenotypic_abnormality 6 HP:0006280 HP:0006280 Chronic pancreatitis Phenotypic_abnormality 6 HP:0006361 HP:0006361 Irregular femoral epiphyses Phenotypic_abnormality 6 HP:0006371 HP:0006371 Broad long bone diaphyses Phenotypic_abnormality 6 HP:0006400 HP:0006400 Absent knee epiphyses Phenotypic_abnormality 6 HP:0006440 HP:0006440 Increased density of long bone diaphyses Phenotypic_abnormality 6 HP:0006454 HP:0006454 Delayed patellar ossification Phenotypic_abnormality 6 HP:0006462 HP:0006462 Generalized bone demineralization Phenotypic_abnormality 6 HP:0006463 HP:0006463 Rickets of the lower limbs Phenotypic_abnormality 6 HP:0006467 HP:0006467 Limited shoulder movement Phenotypic_abnormality 6 HP:0006470 HP:0006470 Thin long bone diaphyses Phenotypic_abnormality 6 HP:0006476 HP:0006476 Abnormality of the pancreatic islet cells Phenotypic_abnormality 6 HP:0006477 HP:0006477 Abnormality of the alveolar ridges Phenotypic_abnormality 6 HP:0006488 HP:0006488 Bowing of the arm Phenotypic_abnormality 6 HP:0006490 HP:0006490 Abnormality of lower-limb metaphyses Phenotypic_abnormality 6 HP:0006493 HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs Phenotypic_abnormality 6 HP:0006496 HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs Phenotypic_abnormality 6 HP:0006500 HP:0006500 Abnormality involving the epiphyses of the lower limbs Phenotypic_abnormality 6 HP:0006509 HP:0006509 Diverticulosis of trachea Phenotypic_abnormality 6 HP:0006519 HP:0006519 Alveolar cell carcinoma Phenotypic_abnormality 6 HP:0006532 HP:0006532 Recurrent pneumonia Phenotypic_abnormality 6 HP:0006533 HP:0006533 Bronchodysplasia Phenotypic_abnormality 6 HP:0006538 HP:0006538 Recurrent bronchopulmonary infections Phenotypic_abnormality 6 HP:0006539 HP:0006539 Bronchial cartilage hypoplasia Phenotypic_abnormality 6 HP:0006543 HP:0006543 Cardiorespiratory arrest Phenotypic_abnormality 6 HP:0006544 HP:0006544 Extrapulmonary sequestrum Phenotypic_abnormality 6 HP:0006554 HP:0006554 Acute hepatic failure Phenotypic_abnormality 6 HP:0006572 HP:0006572 Subacute progressive viral hepatitis Phenotypic_abnormality 6 HP:0006583 HP:0006583 Fatal liver failure in infancy Phenotypic_abnormality 6 HP:0006587 HP:0006587 Straight clavicles Phenotypic_abnormality 6 HP:0006595 HP:0006595 Scapulohumeral synostosis Phenotypic_abnormality 6 HP:0006596 HP:0006596 Restricted chest movement Phenotypic_abnormality 6 HP:0006598 HP:0006598 Irregular ossification at anterior rib ends Phenotypic_abnormality 6 HP:0006599 HP:0006599 Medial widening of clavicles Phenotypic_abnormality 6 HP:0006615 HP:0006615 Absent in utero rib ossification Phenotypic_abnormality 6 HP:0006644 HP:0006644 Thoracic dysplasia Phenotypic_abnormality 6 HP:0006645 HP:0006645 Thin clavicles Phenotypic_abnormality 6 HP:0006647 HP:0006647 Congenital microthorax Phenotypic_abnormality 6 HP:0006650 HP:0006650 Thickening of the lateral border of the scapula Phenotypic_abnormality 6 HP:0006659 HP:0006659 Internally rotated shoulders Phenotypic_abnormality 6 HP:0006681 HP:0006681 Absent atrioventricular node Phenotypic_abnormality 6 HP:0006684 HP:0006684 Ventricular preexcitation with multiple accessory pathways Phenotypic_abnormality 6 HP:0006691 HP:0006691 Pulmonic valve myxoma Phenotypic_abnormality 6 HP:0006692 HP:0006692 Short chordae tendineae of the tricuspid valve Phenotypic_abnormality 6 HP:0006694 HP:0006694 Early progressive calcific cardiac valvular disease Phenotypic_abnormality 6 HP:0006710 HP:0006710 Aplasia/Hypoplasia of the clavicles Phenotypic_abnormality 6 HP:0006712 HP:0006712 Aplasia/Hypoplasia of the ribs Phenotypic_abnormality 6 HP:0006713 HP:0006713 Aplasia/Hypoplasia of the scapulae Phenotypic_abnormality 6 HP:0006714 HP:0006714 Aplasia/Hypoplasia of the sternum Phenotypic_abnormality 6 HP:0006721 HP:0006721 Acute lymphatic leukemia Phenotypic_abnormality 6 HP:0006731 HP:0006731 Follicular thyroid carcinoma Phenotypic_abnormality 6 HP:0006733 HP:0006733 Acute megakaryocytic leukemia Phenotypic_abnormality 6 HP:0006735 HP:0006735 Renal cortical adenoma Phenotypic_abnormality 6 HP:0006744 HP:0006744 Adrenocortical carcinoma Phenotypic_abnormality 6 HP:0006748 HP:0006748 Adrenal pheochromocytoma Phenotypic_abnormality 6 HP:0006751 HP:0006751 Paraspinal neurofibromas Phenotypic_abnormality 6 HP:0006762 HP:0006762 Renal pelvic carcinoma Phenotypic_abnormality 6 HP:0006771 HP:0006771 Duodenal carcinoma Phenotypic_abnormality 6 HP:0006772 HP:0006772 Renal angiomyolipoma Phenotypic_abnormality 6 HP:0006781 HP:0006781 Hurthle cell thyroid adenoma Phenotypic_abnormality 6 HP:0006801 HP:0006801 Hyperactive deep tendon reflexes Phenotypic_abnormality 6 HP:0006808 HP:0006808 Cerebral hypomyelination Phenotypic_abnormality 6 HP:0006825 HP:0006825 Pallor of dorsal columns of the spinal cord Phenotypic_abnormality 6 HP:0006827 HP:0006827 Atrophy of the spinal cord Phenotypic_abnormality 6 HP:0006830 HP:0006830 Severe neonatal hypotonia in males Phenotypic_abnormality 6 HP:0006844 HP:0006844 Absent patellar reflexes Phenotypic_abnormality 6 HP:0006852 HP:0006852 Episodic generalized hypotonia Phenotypic_abnormality 6 HP:0006870 HP:0006870 Lobar holoprosencephaly Phenotypic_abnormality 6 HP:0006881 HP:0006881 Diffuse peripheral demyelination Phenotypic_abnormality 6 HP:0006894 HP:0006894 Hypoplastic olfactory lobes Phenotypic_abnormality 6 HP:0006895 HP:0006895 Lower limb hypertonia Phenotypic_abnormality 6 HP:0006897 HP:0006897 Cranial nerve VI palsy Phenotypic_abnormality 6 HP:0006926 HP:0006926 Metachromatic leukodystrophy variant Phenotypic_abnormality 6 HP:0006932 HP:0006932 Transient psychotic episodes Phenotypic_abnormality 6 HP:0006934 HP:0006934 Congenital nystagmus Phenotypic_abnormality 6 HP:0006962 HP:0006962 Gait instability, worse in the dark Phenotypic_abnormality 6 HP:0006978 HP:0006978 Dysmyelinating leukodystrophy Phenotypic_abnormality 6 HP:0006988 HP:0006988 Alobar holoprosencephaly Phenotypic_abnormality 6 HP:0006990 HP:0006990 Myelin-dependent gliosis Phenotypic_abnormality 6 HP:0006999 HP:0006999 Basal ganglia gliosis Phenotypic_abnormality 6 HP:0007000 HP:0007000 Morning myoclonic jerks Phenotypic_abnormality 6 HP:0007002 HP:0007002 Motor axonal neuropathy Phenotypic_abnormality 6 HP:0007006 HP:0007006 Dorsal column degeneration Phenotypic_abnormality 6 HP:0007010 HP:0007010 Poor fine motor coordination Phenotypic_abnormality 6 HP:0007011 HP:0007011 Fourth cranial nerve palsy Phenotypic_abnormality 6 HP:0007015 HP:0007015 Poor gross motor coordination Phenotypic_abnormality 6 HP:0007017 HP:0007017 Progressive forgetfulness Phenotypic_abnormality 6 HP:0007034 HP:0007034 Generalized hyperreflexia Phenotypic_abnormality 6 HP:0007041 HP:0007041 Chronic lymphocytic meningitis Phenotypic_abnormality 6 HP:0007054 HP:0007054 Hyperreflexia proximally Phenotypic_abnormality 6 HP:0007067 HP:0007067 Distal peripheral sensory neuropathy Phenotypic_abnormality 6 HP:0007086 HP:0007086 Social and occupational deterioration Phenotypic_abnormality 6 HP:0007089 HP:0007089 Facial-lingual fasciculations Phenotypic_abnormality 6 HP:0007096 HP:0007096 Hypoplasia of the optic tract Phenotypic_abnormality 6 HP:0007107 HP:0007107 Segmental peripheral demyelination Phenotypic_abnormality 6 HP:0007131 HP:0007131 Acute demyelinating polyneuropathy Phenotypic_abnormality 6 HP:0007158 HP:0007158 Progressive extrapyramidal muscular rigidity Phenotypic_abnormality 6 HP:0007162 HP:0007162 Diffuse demyelination of the cerebral white matter Phenotypic_abnormality 6 HP:0007163 HP:0007163 Corticospinal tract disease in lower limbs Phenotypic_abnormality 6 HP:0007164 HP:0007164 Slowed slurred speech Phenotypic_abnormality 6 HP:0007179 HP:0007179 Absent smooth pursuit Phenotypic_abnormality 6 HP:0007193 HP:0007193 Generalized tonic-clonic seizures on awakening Phenotypic_abnormality 6 HP:0007207 HP:0007207 Photosensitive tonic-clonic seizures Phenotypic_abnormality 6 HP:0007208 HP:0007208 Irregular loops and focal folding of myelin sheaths Phenotypic_abnormality 6 HP:0007209 HP:0007209 Facial paralysis Phenotypic_abnormality 6 HP:0007215 HP:0007215 Periodic hyperkalemic paralysis Phenotypic_abnormality 6 HP:0007220 HP:0007220 Demyelinating motor neuropathy Phenotypic_abnormality 6 HP:0007230 HP:0007230 Decreased distal sensory nerve action potential Phenotypic_abnormality 6 HP:0007233 HP:0007233 Clusters of axonal regeneration Phenotypic_abnormality 6 HP:0007249 HP:0007249 Decreased number of small peripheral myelinated nerve fibers Phenotypic_abnormality 6 HP:0007258 HP:0007258 Severe demyelination of the white matter Phenotypic_abnormality 6 HP:0007262 HP:0007262 Symmetric peripheral demyelination Phenotypic_abnormality 6 HP:0007265 HP:0007265 Absent mesencephalon Phenotypic_abnormality 6 HP:0007267 HP:0007267 Chronic axonal neuropathy Phenotypic_abnormality 6 HP:0007270 HP:0007270 Atypical absence seizures Phenotypic_abnormality 6 HP:0007274 HP:0007274 Recurrent bacterial meningitis Phenotypic_abnormality 6 HP:0007289 HP:0007289 Limb fasciculations Phenotypic_abnormality 6 HP:0007299 HP:0007299 Dysfunction of lateral corticospinal tracts Phenotypic_abnormality 6 HP:0007311 HP:0007311 Short stepped shuffling gait Phenotypic_abnormality 6 HP:0007314 HP:0007314 White matter neuronal heterotopia Phenotypic_abnormality 6 HP:0007334 HP:0007334 Bilateral convulsive seizures Phenotypic_abnormality 6 HP:0007348 HP:0007348 Hypoplasia of the pyramidal tract Phenotypic_abnormality 6 HP:0007350 HP:0007350 Hyperreflexia in upper limbs Phenotypic_abnormality 6 HP:0007351 HP:0007351 Upper limb postural tremor Phenotypic_abnormality 6 HP:0007354 HP:0007354 Amyotrophic lateral sclerosis Phenotypic_abnormality 6 HP:0007361 HP:0007361 Abnormality of the pons Phenotypic_abnormality 6 HP:0007374 HP:0007374 Atrophy/Degeneration involving the caudate nucleus Phenotypic_abnormality 6 HP:0007376 HP:0007376 Abnormality of the choroid plexus Phenotypic_abnormality 6 HP:0007385 HP:0007385 Aplasia cutis congenita of scalp Phenotypic_abnormality 6 HP:0007392 HP:0007392 Excessive wrinkled skin Phenotypic_abnormality 6 HP:0007413 HP:0007413 Nevus flammeus of the forehead Phenotypic_abnormality 6 HP:0007414 HP:0007414 Neonatal wrinkled skin of hands and feet Phenotypic_abnormality 6 HP:0007418 HP:0007418 Alopecia totalis Phenotypic_abnormality 6 HP:0007420 HP:0007420 Spontaneous hematomas Phenotypic_abnormality 6 HP:0007427 HP:0007427 Reticulated skin pigmentation Phenotypic_abnormality 6 HP:0007434 HP:0007434 Plaque-like facial hemangioma Phenotypic_abnormality 6 HP:0007453 HP:0007453 Flexural lichenification Phenotypic_abnormality 6 HP:0007460 HP:0007460 Autoamputation of digits Phenotypic_abnormality 6 HP:0007464 HP:0007464 Sparse facial hair Phenotypic_abnormality 6 HP:0007470 HP:0007470 Periarticular subcutaneous nodules Phenotypic_abnormality 6 HP:0007473 HP:0007473 Crusting erythematous dermatitis Phenotypic_abnormality 6 HP:0007483 HP:0007483 Depigmentation/hyperpigmentation of skin Phenotypic_abnormality 6 HP:0007486 HP:0007486 Cavernous hemangioma of the face Phenotypic_abnormality 6 HP:0007488 HP:0007488 Diffuse skin atrophy Phenotypic_abnormality 6 HP:0007489 HP:0007489 Diffuse telangiectasia Phenotypic_abnormality 6 HP:0007506 HP:0007506 Congenital absence of skin of limbs Phenotypic_abnormality 6 HP:0007519 HP:0007519 Lack of subcutaneous fatty tissue Phenotypic_abnormality 6 HP:0007524 HP:0007524 Atypical neurofibromatosis Phenotypic_abnormality 6 HP:0007534 HP:0007534 Congenital posterior occipital alopecia Phenotypic_abnormality 6 HP:0007576 HP:0007576 Palmar neurofibromas Phenotypic_abnormality 6 HP:0007583 HP:0007583 Telangiectasia macularis eruptiva perstans Phenotypic_abnormality 6 HP:0007587 HP:0007587 Numerous pigmented freckles Phenotypic_abnormality 6 HP:0007589 HP:0007589 Aplasia cutis congenita on trunk or limbs Phenotypic_abnormality 6 HP:0007610 HP:0007610 Blotching pigmentation of the skin Phenotypic_abnormality 6 HP:0007616 HP:0007616 Nevus flammeus nuchae Phenotypic_abnormality 6 HP:0007617 HP:0007617 Fine, reticulate skin pigmentation Phenotypic_abnormality 6 HP:0007623 HP:0007623 Pigmentation anomalies of sun-exposed skin Phenotypic_abnormality 6 HP:0007650 HP:0007650 Progressive ophthalmoplegia Phenotypic_abnormality 6 HP:0007656 HP:0007656 Lacrimal gland aplasia Phenotypic_abnormality 6 HP:0007678 HP:0007678 Lacrimal duct stenosis Phenotypic_abnormality 6 HP:0007700 HP:0007700 Anterior segment dysgenesis Phenotypic_abnormality 6 HP:0007705 HP:0007705 Corneal degeneration Phenotypic_abnormality 6 HP:0007710 HP:0007710 Peripheral vitreous opacities Phenotypic_abnormality 6 HP:0007721 HP:0007721 Saccular conjunctival aneurysms Phenotypic_abnormality 6 HP:0007732 HP:0007732 Lacrimal gland hypoplasia Phenotypic_abnormality 6 HP:0007733 HP:0007733 Laterally curved eyebrow Phenotypic_abnormality 6 HP:0007761 HP:0007761 Pericentral scotoma Phenotypic_abnormality 6 HP:0007763 HP:0007763 Retinal telangiectasia Phenotypic_abnormality 6 HP:0007765 HP:0007765 Deep anterior chamber Phenotypic_abnormality 6 HP:0007773 HP:0007773 Vitreoretinal abnormalities Phenotypic_abnormality 6 HP:0007774 HP:0007774 Hypoplasia of the ciliary body Phenotypic_abnormality 6 HP:0007779 HP:0007779 Anterior segment of eye aplasia Phenotypic_abnormality 6 HP:0007792 HP:0007792 Microsaccadic pursuit Phenotypic_abnormality 6 HP:0007800 HP:0007800 Increased axial globe length Phenotypic_abnormality 6 HP:0007807 HP:0007807 Optic nerve compression Phenotypic_abnormality 6 HP:0007813 HP:0007813 Nongranulomatous uveitis Phenotypic_abnormality 6 HP:0007824 HP:0007824 Total ophthalmoplegia Phenotypic_abnormality 6 HP:0007833 HP:0007833 Anterior chamber synechiae Phenotypic_abnormality 6 HP:0007841 HP:0007841 Amyloid deposition in the vitreous humor Phenotypic_abnormality 6 HP:0007875 HP:0007875 Congenital blindness Phenotypic_abnormality 6 HP:0007885 HP:0007885 Slowed horizontal saccades Phenotypic_abnormality 6 HP:0007905 HP:0007905 Abnormal iris vasculature Phenotypic_abnormality 6 HP:0007942 HP:0007942 Internal ophthalmoplegia Phenotypic_abnormality 6 HP:0007944 HP:0007944 Intermittent microsaccadic pursuits Phenotypic_abnormality 6 HP:0007957 HP:0007957 Corneal opacity Phenotypic_abnormality 6 HP:0007958 HP:0007958 Optic atrophy from cranial nerve compression Phenotypic_abnormality 6 HP:0007968 HP:0007968 Persistent hyperplastic primary vitreous Phenotypic_abnormality 6 HP:0007975 HP:0007975 Hypometric horizontal saccades Phenotypic_abnormality 6 HP:0007981 HP:0007981 Concentric narrowing of visual fields Phenotypic_abnormality 6 HP:0007985 HP:0007985 Retinal arteriolar occlusion Phenotypic_abnormality 6 HP:0008000 HP:0008000 Decreased corneal reflex Phenotypic_abnormality 6 HP:0008034 HP:0008034 Abnormal iris pigmentation Phenotypic_abnormality 6 HP:0008037 HP:0008037 Absent anterior eye chamber Phenotypic_abnormality 6 HP:0008045 HP:0008045 Enlarged flash visual evoked potentials Phenotypic_abnormality 6 HP:0008048 HP:0008048 Abnormality of the line of Schwalbe Phenotypic_abnormality 6 HP:0008050 HP:0008050 Abnormality of the palpebral fissures Phenotypic_abnormality 6 HP:0008053 HP:0008053 Aplasia/Hypoplasia of the iris Phenotypic_abnormality 6 HP:0008063 HP:0008063 Aplasia/Hypoplasia of the lens Phenotypic_abnormality 6 HP:0008067 HP:0008067 Abnormally lax or hyperextensible skin Phenotypic_abnormality 6 HP:0008090 HP:0008090 Ankylosis of feet small joints Phenotypic_abnormality 6 HP:0008107 HP:0008107 Plantar crease between first and second toes Phenotypic_abnormality 6 HP:0008153 HP:0008153 Periodic hypokalemic paresis Phenotypic_abnormality 6 HP:0008155 HP:0008155 Mucopolysacchariduria Phenotypic_abnormality 6 HP:0008161 HP:0008161 Absent leukocyte alkaline phosphatase Phenotypic_abnormality 6 HP:0008202 HP:0008202 Prolactin deficiency Phenotypic_abnormality 6 HP:0008205 HP:0008205 Insulin-dependent but ketosis-resistant diabetes Phenotypic_abnormality 6 HP:0008213 HP:0008213 Gonadotropin deficiency Phenotypic_abnormality 6 HP:0008220 HP:0008220 Hypocortisolemia Phenotypic_abnormality 6 HP:0008222 HP:0008222 Female infertility Phenotypic_abnormality 6 HP:0008245 HP:0008245 Pituitary hypothyroidism Phenotypic_abnormality 6 HP:0008256 HP:0008256 Adrenocortical adenoma Phenotypic_abnormality 6 HP:0008259 HP:0008259 Adrenocorticotropin (ACTH) receptor (ACTHR) defect Phenotypic_abnormality 6 HP:0008269 HP:0008269 Increased red cell hemolysis by shear stress Phenotypic_abnormality 6 HP:0008297 HP:0008297 Transient hyperphenylalaninemia Phenotypic_abnormality 6 HP:0008305 HP:0008305 Exercise-induced myoglobinuria Phenotypic_abnormality 6 HP:0008338 HP:0008338 Partial functional complement factor D deficiency Phenotypic_abnormality 6 HP:0008354 HP:0008354 Factor X activation deficiency Phenotypic_abnormality 6 HP:0008358 HP:0008358 Hyperprolinemia Phenotypic_abnormality 6 HP:0008361 HP:0008361 Corticospinal tract pallor Phenotypic_abnormality 6 HP:0008376 HP:0008376 Nasal, dysarthic speech Phenotypic_abnormality 6 HP:0008407 HP:0008407 Hyperconvex thumb nails Phenotypic_abnormality 6 HP:0008419 HP:0008419 Intervertebral disc degeneration Phenotypic_abnormality 6 HP:0008440 HP:0008440 C1-C2 vertebral abnormality Phenotypic_abnormality 6 HP:0008441 HP:0008441 Herniation of intervertebral nuclei Phenotypic_abnormality 6 HP:0008445 HP:0008445 Cervical spinal canal stenosis Phenotypic_abnormality 6 HP:0008454 HP:0008454 Lumbar kyphosis Phenotypic_abnormality 6 HP:0008455 HP:0008455 Dysplastic sacrum Phenotypic_abnormality 6 HP:0008460 HP:0008460 Hypoplastic spinal processes Phenotypic_abnormality 6 HP:0008462 HP:0008462 Cervical instability Phenotypic_abnormality 6 HP:0008469 HP:0008469 Cervical vertebral dysplasia Phenotypic_abnormality 6 HP:0008472 HP:0008472 Prominent protruding coccyx Phenotypic_abnormality 6 HP:0008480 HP:0008480 Cervical spondylosis Phenotypic_abnormality 6 HP:0008483 HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter Phenotypic_abnormality 6 HP:0008489 HP:0008489 Spondylolisthesis at L5-S1 Phenotypic_abnormality 6 HP:0008497 HP:0008497 Congenital craniofacial dysostosis Phenotypic_abnormality 6 HP:0008515 HP:0008515 Aplasia/Hypoplasia of the vertebrae Phenotypic_abnormality 6 HP:0008517 HP:0008517 Aplasia/Hypoplasia of the sacrum Phenotypic_abnormality 6 HP:0008537 HP:0008537 Cleft at the superior portion of the pinna Phenotypic_abnormality 6 HP:0008555 HP:0008555 Absent vestibular function Phenotypic_abnormality 6 HP:0008559 HP:0008559 Hypoplastic superior helix Phenotypic_abnormality 6 HP:0008568 HP:0008568 Vestibular areflexia Phenotypic_abnormality 6 HP:0008577 HP:0008577 Underfolded helix Phenotypic_abnormality 6 HP:0008586 HP:0008586 Hypoplasia of the cochlea Phenotypic_abnormality 6 HP:0008596 HP:0008596 Postlingual sensorineural hearing impairment Phenotypic_abnormality 6 HP:0008606 HP:0008606 Supraauricular pit Phenotypic_abnormality 6 HP:0008610 HP:0008610 Infantile sensorineural hearing impairment Phenotypic_abnormality 6 HP:0008652 HP:0008652 Autonomic erectile dysfunction Phenotypic_abnormality 6 HP:0008668 HP:0008668 Gonadal dysgenesis, male Phenotypic_abnormality 6 HP:0008678 HP:0008678 Renal hypoplasia/aplasia Phenotypic_abnormality 6 HP:0008691 HP:0008691 Solitary bladder diverticulum Phenotypic_abnormality 6 HP:0008705 HP:0008705 Ureteral triplication Phenotypic_abnormality 6 HP:0008723 HP:0008723 Gonadal dysgenesis with female appearance, male Phenotypic_abnormality 6 HP:0008730 HP:0008730 Female external genitalia in individual with 46,XY karyotype Phenotypic_abnormality 6 HP:0008756 HP:0008756 Bowing of the vocal cords Phenotypic_abnormality 6 HP:0008760 HP:0008760 Violent behavior Phenotypic_abnormality 6 HP:0008763 HP:0008763 No social interaction Phenotypic_abnormality 6 HP:0008769 HP:0008769 Dull facial expression Phenotypic_abnormality 6 HP:0008775 HP:0008775 Abnormality of the prostate Phenotypic_abnormality 6 HP:0008789 HP:0008789 Cone-shaped capital femoral epiphysis Phenotypic_abnormality 6 HP:0008839 HP:0008839 Hypoplastic pelvis Phenotypic_abnormality 6 HP:0008843 HP:0008843 Hip osteoarthritis Phenotypic_abnormality 6 HP:0008845 HP:0008845 Mesomelic short stature Phenotypic_abnormality 6 HP:0008857 HP:0008857 Neonatal short-trunk short stature Phenotypic_abnormality 6 HP:0008890 HP:0008890 Severe short-limb dwarfism Phenotypic_abnormality 6 HP:0008905 HP:0008905 Rhizomelia Phenotypic_abnormality 6 HP:0008909 HP:0008909 Lethal short-limbed short stature Phenotypic_abnormality 6 HP:0008915 HP:0008915 Childhood-onset truncal obesity Phenotypic_abnormality 6 HP:0008921 HP:0008921 Neonatal short-limb short stature Phenotypic_abnormality 6 HP:0008922 HP:0008922 Childhood-onset short-trunk short stature Phenotypic_abnormality 6 HP:0008935 HP:0008935 Generalized neonatal hypotonia Phenotypic_abnormality 6 HP:0008963 HP:0008963 Tibialis muscle weakness Phenotypic_abnormality 6 HP:0008972 HP:0008972 Decreased activity of mitochondrial respiratory chain Phenotypic_abnormality 6 HP:0009028 HP:0009028 Generalized weakness of limb muscles Phenotypic_abnormality 6 HP:0009056 HP:0009056 Loss of subcutaneous adipose tissue from upper limbs Phenotypic_abnormality 6 HP:0009062 HP:0009062 Infantile axial hypotonia Phenotypic_abnormality 6 HP:0009072 HP:0009072 Decreased Achilles reflex Phenotypic_abnormality 6 HP:0009104 HP:0009104 Aplasia/Hypoplasia of the pubic bone Phenotypic_abnormality 6 HP:0009107 HP:0009107 Abnormal ossification involving the femoral head and neck Phenotypic_abnormality 6 HP:0009108 HP:0009108 Aplasia/Hypoplasia involving the femoral head and neck Phenotypic_abnormality 6 HP:0009117 HP:0009117 Aplasia/Hypoplasia of the maxilla Phenotypic_abnormality 6 HP:0009118 HP:0009118 Aplasia/Hypoplasia of the mandible Phenotypic_abnormality 6 HP:0009120 HP:0009120 Aplasia/Hypoplasia involving the sinuses Phenotypic_abnormality 6 HP:0009128 HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities Phenotypic_abnormality 6 HP:0009138 HP:0009138 Synostosis involving bones of the lower limbs Phenotypic_abnormality 6 HP:0009142 HP:0009142 Duplication of bones involving the upper extremities Phenotypic_abnormality 6 HP:0009171 HP:0009171 Triangular epiphyses of the metacarpals Phenotypic_abnormality 6 HP:0009191 HP:0009191 Ivory epiphyses of the metacarpals Phenotypic_abnormality 6 HP:0009194 HP:0009194 Small epiphyses of the metacarpals Phenotypic_abnormality 6 HP:0009196 HP:0009196 Absent metacarpal epiphyses Phenotypic_abnormality 6 HP:0000011 HP:0000011 Neurogenic bladder Phenotypic_abnormality 6 HP:0000012 HP:0000012 Urinary urgency Phenotypic_abnormality 6 HP:0000016 HP:0000016 Urinary retention Phenotypic_abnormality 6 HP:0000017 HP:0000017 Nocturia Phenotypic_abnormality 6 HP:0000019 HP:0000019 Urinary hesitancy Phenotypic_abnormality 6 HP:0000020 HP:0000020 Urinary incontinence Phenotypic_abnormality 6 HP:0000021 HP:0000021 Megacystis Phenotypic_abnormality 6 HP:0000027 HP:0000027 Azoospermia Phenotypic_abnormality 6 HP:0000033 HP:0000033 Ambiguous genitalia, male Phenotypic_abnormality 6 HP:0000035 HP:0000035 Abnormality of the testis Phenotypic_abnormality 6 HP:0000036 HP:0000036 Abnormality of the penis Phenotypic_abnormality 6 HP:0000037 HP:0000037 Male pseudohermaphroditism Phenotypic_abnormality 6 HP:0000045 HP:0000045 Abnormality of the scrotum Phenotypic_abnormality 6 HP:0000050 HP:0000050 Hypoplastic male external genitalia Phenotypic_abnormality 6 HP:0000056 HP:0000056 Abnormality of the clitoris Phenotypic_abnormality 6 HP:0000058 HP:0000058 Abnormality of the labia Phenotypic_abnormality 6 HP:0000061 HP:0000061 Ambiguous genitalia, female Phenotypic_abnormality 6 HP:0000067 HP:0000067 Urethral atresia, female Phenotypic_abnormality 6 HP:0000071 HP:0000071 Ureteral stenosis Phenotypic_abnormality 6 HP:0000075 HP:0000075 Renal duplication Phenotypic_abnormality 6 HP:0000081 HP:0000081 Duplicated collecting system Phenotypic_abnormality 6 HP:0000083 HP:0000083 Renal insufficiency Phenotypic_abnormality 6 HP:0000100 HP:0000100 Nephrotic syndrome Phenotypic_abnormality 6 HP:0000105 HP:0000105 Enlarged kidneys Phenotypic_abnormality 6 HP:0000107 HP:0000107 Renal cyst Phenotypic_abnormality 6 HP:0000110 HP:0000110 Renal dysplasia Phenotypic_abnormality 6 HP:0000112 HP:0000112 Nephropathy Phenotypic_abnormality 6 HP:0000121 HP:0000121 Nephrocalcinosis Phenotypic_abnormality 6 HP:0000123 HP:0000123 Nephritis Phenotypic_abnormality 6 HP:0000124 HP:0000124 Renal tubular dysfunction Phenotypic_abnormality 6 HP:0000127 HP:0000127 Renal salt wasting Phenotypic_abnormality 6 HP:0000130 HP:0000130 Abnormality of the uterus Phenotypic_abnormality 6 HP:0000137 HP:0000137 Abnormality of the ovary Phenotypic_abnormality 6 HP:0000142 HP:0000142 Abnormality of the vagina Phenotypic_abnormality 6 HP:0000154 HP:0000154 Wide mouth Phenotypic_abnormality 6 HP:0000157 HP:0000157 Abnormality of the tongue Phenotypic_abnormality 6 HP:0000160 HP:0000160 Narrow mouth Phenotypic_abnormality 6 HP:0000164 HP:0000164 Abnormality of the teeth Phenotypic_abnormality 6 HP:0000168 HP:0000168 Abnormality of the gingiva Phenotypic_abnormality 6 HP:0000174 HP:0000174 Abnormality of the palate Phenotypic_abnormality 6 HP:0000175 HP:0000175 Cleft palate Phenotypic_abnormality 6 HP:0000177 HP:0000177 Abnormality of upper lip Phenotypic_abnormality 6 HP:0000178 HP:0000178 Abnormality of lower lip Phenotypic_abnormality 6 HP:0000185 HP:0000185 Cleft soft palate Phenotypic_abnormality 6 HP:0000190 HP:0000190 Abnormality of oral frenula Phenotypic_abnormality 6 HP:0000194 HP:0000194 Open mouth Phenotypic_abnormality 6 HP:0000204 HP:0000204 Cleft upper lip Phenotypic_abnormality 6 HP:0000205 HP:0000205 Pursed lips Phenotypic_abnormality 6 HP:0000207 HP:0000207 Triangular mouth Phenotypic_abnormality 6 HP:0000214 HP:0000214 Lip telangiectasia Phenotypic_abnormality 6 HP:0000233 HP:0000233 Thin vermilion border Phenotypic_abnormality 6 HP:0000235 HP:0000235 Abnormality of the fontanelles and cranial sutures Phenotypic_abnormality 6 HP:0000245 HP:0000245 Abnormality of the sinuses Phenotypic_abnormality 6 HP:0000250 HP:0000250 Dense calvaria Phenotypic_abnormality 6 HP:0000252 HP:0000252 Microcephaly Phenotypic_abnormality 6 HP:0000256 HP:0000256 Macrocephaly Phenotypic_abnormality 6 HP:0000265 HP:0000265 Mastoiditis Phenotypic_abnormality 6 HP:0000273 HP:0000273 Facial grimacing Phenotypic_abnormality 6 HP:0000277 HP:0000277 Abnormality of the mandible Phenotypic_abnormality 6 HP:0000286 HP:0000286 Epicanthus Phenotypic_abnormality 6 HP:0000287 HP:0000287 Increased facial adipose tissue Phenotypic_abnormality 6 HP:0000289 HP:0000289 Broad philtrum Phenotypic_abnormality 6 HP:0000292 HP:0000292 Loss of facial adipose tissue Phenotypic_abnormality 6 HP:0000293 HP:0000293 Full cheeks Phenotypic_abnormality 6 HP:0000298 HP:0000298 Mask-like facies Phenotypic_abnormality 6 HP:0000316 HP:0000316 Hypertelorism Phenotypic_abnormality 6 HP:0000319 HP:0000319 Smooth philtrum Phenotypic_abnormality 6 HP:0000322 HP:0000322 Short philtrum Phenotypic_abnormality 6 HP:0000336 HP:0000336 Prominent supraorbital ridges Phenotypic_abnormality 6 HP:0000338 HP:0000338 Hypomimic face Phenotypic_abnormality 6 HP:0000339 HP:0000339 Pugilistic facies Phenotypic_abnormality 6 HP:0000343 HP:0000343 Long philtrum Phenotypic_abnormality 6 HP:0000362 HP:0000362 Otosclerosis Phenotypic_abnormality 6 HP:0000381 HP:0000381 Stapes ankylosis Phenotypic_abnormality 6 HP:0000385 HP:0000385 Small earlobe Phenotypic_abnormality 6 HP:0000387 HP:0000387 Absent earlobe Phenotypic_abnormality 6 HP:0000396 HP:0000396 Overfolded helix Phenotypic_abnormality 6 HP:0000399 HP:0000399 Prelingual sensorineural hearing impairment Phenotypic_abnormality 6 HP:0000414 HP:0000414 Bulbous nose Phenotypic_abnormality 6 HP:0000417 HP:0000417 Slender nose Phenotypic_abnormality 6 HP:0000420 HP:0000420 Short nasal septum Phenotypic_abnormality 6 HP:0000426 HP:0000426 Prominent nasal bridge Phenotypic_abnormality 6 HP:0000429 HP:0000429 Abnormality of the nasal alae Phenotypic_abnormality 6 HP:0000431 HP:0000431 Wide nasal bridge Phenotypic_abnormality 6 HP:0000434 HP:0000434 Nasal mucosa telangiectasia Phenotypic_abnormality 6 HP:0000436 HP:0000436 Abnormality of the nasal tip Phenotypic_abnormality 6 HP:0000445 HP:0000445 Wide nose Phenotypic_abnormality 6 HP:0000446 HP:0000446 Narrow nasal bridge Phenotypic_abnormality 6 HP:0000447 HP:0000447 Pear-shaped nose Phenotypic_abnormality 6 HP:0000448 HP:0000448 Prominent nose Phenotypic_abnormality 6 HP:0000452 HP:0000452 Choanal stenosis Phenotypic_abnormality 6 HP:0000453 HP:0000453 Choanal atresia Phenotypic_abnormality 6 HP:0000458 HP:0000458 Anosmia Phenotypic_abnormality 6 HP:0000460 HP:0000460 Narrow nose Phenotypic_abnormality 6 HP:0000463 HP:0000463 Anteverted nares Phenotypic_abnormality 6 HP:0000471 HP:0000471 Gastrointestinal angiodysplasia Phenotypic_abnormality 6 HP:0000479 HP:0000479 Abnormality of the retina Phenotypic_abnormality 6 HP:0000487 HP:0000487 Congenital strabismus Phenotypic_abnormality 6 HP:0000490 HP:0000490 Deeply set eye Phenotypic_abnormality 6 HP:0000503 HP:0000503 Tortuosity of conjunctival vessels Phenotypic_abnormality 6 HP:0000506 HP:0000506 Telecanthus Phenotypic_abnormality 6 HP:0000518 HP:0000518 Cataract Phenotypic_abnormality 6 HP:0000520 HP:0000520 Proptosis Phenotypic_abnormality 6 HP:0000524 HP:0000524 Conjunctival telangiectasia Phenotypic_abnormality 6 HP:0000529 HP:0000529 Progressive visual loss Phenotypic_abnormality 6 HP:0000537 HP:0000537 Epicanthus inversus Phenotypic_abnormality 6 HP:0000544 HP:0000544 External ophthalmoplegia Phenotypic_abnormality 6 HP:0000561 HP:0000561 Absent eyelashes Phenotypic_abnormality 6 HP:0000565 HP:0000565 Esotropia Phenotypic_abnormality 6 HP:0000574 HP:0000574 Thick eyebrow Phenotypic_abnormality 6 HP:0000576 HP:0000576 Centrocecal scotoma Phenotypic_abnormality 6 HP:0000577 HP:0000577 Exotropia Phenotypic_abnormality 6 HP:0000587 HP:0000587 Abnormality of the optic nerve Phenotypic_abnormality 6 HP:0000594 HP:0000594 Shallow anterior chamber Phenotypic_abnormality 6 HP:0000601 HP:0000601 Hypotelorism Phenotypic_abnormality 6 HP:0000603 HP:0000603 Central scotoma Phenotypic_abnormality 6 HP:0000615 HP:0000615 Abnormality of the pupil Phenotypic_abnormality 6 HP:0000621 HP:0000621 Entropion Phenotypic_abnormality 6 HP:0000623 HP:0000623 Supranuclear ophthalmoplegia Phenotypic_abnormality 6 HP:0000640 HP:0000640 Gaze-evoked nystagmus Phenotypic_abnormality 6 HP:0000642 HP:0000642 Red-green dyschromatopsia Phenotypic_abnormality 6 HP:0000643 HP:0000643 Blepharospasm Phenotypic_abnormality 6 HP:0000656 HP:0000656 Ectropion Phenotypic_abnormality 6 HP:0000664 HP:0000664 Synophrys Phenotypic_abnormality 6 HP:0000666 HP:0000666 Horizontal nystagmus Phenotypic_abnormality 6 HP:0000712 HP:0000712 Emotional lability Phenotypic_abnormality 6 HP:0000718 HP:0000718 Aggressive behavior Phenotypic_abnormality 6 HP:0000720 HP:0000720 Mood swings Phenotypic_abnormality 6 HP:0000726 HP:0000726 Dementia Phenotypic_abnormality 6 HP:0000728 HP:0000728 Impaired ability to form peer relationships Phenotypic_abnormality 6 HP:0000739 HP:0000739 Anxiety Phenotypic_abnormality 6 HP:0000741 HP:0000741 Apathy Phenotypic_abnormality 6 HP:0000749 HP:0000749 Paroxysmal bursts of laughter Phenotypic_abnormality 6 HP:0000756 HP:0000756 Agoraphobia Phenotypic_abnormality 6 HP:0000758 HP:0000758 Impaired use of nonverbal behaviors Phenotypic_abnormality 6 HP:0000767 HP:0000767 Pectus excavatum Phenotypic_abnormality 6 HP:0000768 HP:0000768 Pectus carinatum Phenotypic_abnormality 6 HP:0000772 HP:0000772 Abnormality of the ribs Phenotypic_abnormality 6 HP:0000774 HP:0000774 Narrow chest Phenotypic_abnormality 6 HP:0000787 HP:0000787 Nephrolithiasis Phenotypic_abnormality 6 HP:0000790 HP:0000790 Hematuria Phenotypic_abnormality 6 HP:0000798 HP:0000798 Oligospermia Phenotypic_abnormality 6 HP:0000799 HP:0000799 Renal steatosis Phenotypic_abnormality 6 HP:0000805 HP:0000805 Enuresis Phenotypic_abnormality 6 HP:0000817 HP:0000817 Poor eye contact Phenotypic_abnormality 6 HP:0000837 HP:0000837 Gonadotropin excess Phenotypic_abnormality 6 HP:0000845 HP:0000845 Growth hormone excess Phenotypic_abnormality 6 HP:0000857 HP:0000857 Neonatal insulin-dependent diabetes mellitus Phenotypic_abnormality 6 HP:0000866 HP:0000866 Euthyroid multinodular goiter Phenotypic_abnormality 6 HP:0000870 HP:0000870 Prolactin excess Phenotypic_abnormality 6 HP:0000871 HP:0000871 Panhypopituitarism Phenotypic_abnormality 6 HP:0000877 HP:0000877 Insulin-resistant diabetes mellitus at puberty Phenotypic_abnormality 6 HP:0000884 HP:0000884 Prominent sternum Phenotypic_abnormality 6 HP:0000886 HP:0000886 Deformed rib cage Phenotypic_abnormality 6 HP:0000890 HP:0000890 Long clavicles Phenotypic_abnormality 6 HP:0000893 HP:0000893 Bulging of the costochondral junction Phenotypic_abnormality 6 HP:0000895 HP:0000895 Hooked clavicles Phenotypic_abnormality 6 HP:0000897 HP:0000897 Rachitic rosary Phenotypic_abnormality 6 HP:0000912 HP:0000912 Sprengel anomaly Phenotypic_abnormality 6 HP:0000916 HP:0000916 Broad clavicles Phenotypic_abnormality 6 HP:0000930 HP:0000930 Elevated imprint of the transverse sinuses Phenotypic_abnormality 6 HP:0000932 HP:0000932 Abnormality of the posterior cranial fossa Phenotypic_abnormality 6 HP:0000938 HP:0000938 Osteopenia Phenotypic_abnormality 6 HP:0000939 HP:0000939 Osteoporosis Phenotypic_abnormality 6 HP:0000953 HP:0000953 Hyperpigmentation of the skin Phenotypic_abnormality 6 HP:0000964 HP:0000964 Eczema Phenotypic_abnormality 6 HP:0000967 HP:0000967 Petechiae Phenotypic_abnormality 6 HP:0000977 HP:0000977 Soft skin Phenotypic_abnormality 6 HP:0000978 HP:0000978 Bruising susceptibility Phenotypic_abnormality 6 HP:0000979 HP:0000979 Purpura Phenotypic_abnormality 6 HP:0000988 HP:0000988 Skin rash Phenotypic_abnormality 6 HP:0000996 HP:0000996 Facial capillary hemangioma Phenotypic_abnormality 6 HP:0001017 HP:0001017 Anemic pallor Phenotypic_abnormality 6 HP:0001019 HP:0001019 Erythroderma Phenotypic_abnormality 6 HP:0001022 HP:0001022 Albinism Phenotypic_abnormality 6 HP:0001041 HP:0001041 Facial erythema Phenotypic_abnormality 6 HP:0001045 HP:0001045 Vitiligo Phenotypic_abnormality 6 HP:0001047 HP:0001047 Atopic dermatitis Phenotypic_abnormality 6 HP:0001055 HP:0001055 Erysipelas Phenotypic_abnormality 6 HP:0001061 HP:0001061 Acne Phenotypic_abnormality 6 HP:0001063 HP:0001063 Acrocyanosis Phenotypic_abnormality 6 HP:0001065 HP:0001065 Striae distensae Phenotypic_abnormality 6 HP:0001070 HP:0001070 Mottled pigmentation Phenotypic_abnormality 6 HP:0001071 HP:0001071 Angiokeratoma corporis diffusum Phenotypic_abnormality 6 HP:0001083 HP:0001083 Ectopia lentis Phenotypic_abnormality 6 HP:0001089 HP:0001089 Iris atrophy Phenotypic_abnormality 6 HP:0001090 HP:0001090 Large eyes Phenotypic_abnormality 6 HP:0001099 HP:0001099 Fundus atrophy Phenotypic_abnormality 6 HP:0001101 HP:0001101 Iritis Phenotypic_abnormality 6 HP:0001107 HP:0001107 Ocular albinism Phenotypic_abnormality 6 HP:0001120 HP:0001120 Abnormality of corneal size Phenotypic_abnormality 6 HP:0001122 HP:0001122 Aplasia/Hypoplasia of the choroid Phenotypic_abnormality 6 HP:0001126 HP:0001126 Cryptophthalmos Phenotypic_abnormality 6 HP:0001131 HP:0001131 Corneal dystrophy Phenotypic_abnormality 6 HP:0001151 HP:0001151 Impaired horizontal smooth pursuit Phenotypic_abnormality 6 HP:0001155 HP:0001155 Abnormality of the hand Phenotypic_abnormality 6 HP:0001159 HP:0001159 Syndactyly Phenotypic_abnormality 6 HP:0001167 HP:0001167 Abnormality of finger Phenotypic_abnormality 6 HP:0001171 HP:0001171 Split hand Phenotypic_abnormality 6 HP:0001187 HP:0001187 Hyperextensibility of the finger joints Phenotypic_abnormality 6 HP:0001217 HP:0001217 Clubbing Phenotypic_abnormality 6 HP:0001257 HP:0001257 Spasticity Phenotypic_abnormality 6 HP:0001266 HP:0001266 Choreoathetosis Phenotypic_abnormality 6 HP:0001297 HP:0001297 Stroke Phenotypic_abnormality 6 HP:0001325 HP:0001325 Hypoglycemic coma Phenotypic_abnormality 6 HP:0001327 HP:0001327 Photomyoclonic seizures Phenotypic_abnormality 6 HP:0001348 HP:0001348 Brisk reflexes Phenotypic_abnormality 6 HP:0001361 HP:0001361 Nystagmus-induced head nodding Phenotypic_abnormality 6 HP:0001377 HP:0001377 Limited elbow extension Phenotypic_abnormality 6 HP:0001380 HP:0001380 Ligamentous laxity Phenotypic_abnormality 6 HP:0001387 HP:0001387 Joint stiffness Phenotypic_abnormality 6 HP:0001388 HP:0001388 Joint laxity Phenotypic_abnormality 6 HP:0001402 HP:0001402 Hepatocellular carcinoma Phenotypic_abnormality 6 HP:0001406 HP:0001406 Intrahepatic cholestasis Phenotypic_abnormality 6 HP:0001412 HP:0001412 Enteroviral hepatitis Phenotypic_abnormality 6 HP:0001437 HP:0001437 Abnormality of the musculature of the lower limbs Phenotypic_abnormality 6 HP:0001446 HP:0001446 Abnormality of the musculature of the upper limbs Phenotypic_abnormality 6 HP:0001454 HP:0001454 Abnormality of the upper arm Phenotypic_abnormality 6 HP:0001474 HP:0001474 Sclerotic scapulae Phenotypic_abnormality 6 HP:0001480 HP:0001480 Freckling Phenotypic_abnormality 6 HP:0001487 HP:0001487 Hypopigmented fundi Phenotypic_abnormality 6 HP:0001489 HP:0001489 Vitreous detachment Phenotypic_abnormality 6 HP:0001555 HP:0001555 Asymmetry of the thorax Phenotypic_abnormality 6 HP:0001575 HP:0001575 Mood changes Phenotypic_abnormality 6 HP:0001579 HP:0001579 Primary hypercorticolism Phenotypic_abnormality 6 HP:0001581 HP:0001581 Recurrent skin infections Phenotypic_abnormality 6 HP:0001583 HP:0001583 Rotary nystagmus Phenotypic_abnormality 6 HP:0001586 HP:0001586 Vesicovaginal fistula Phenotypic_abnormality 6 HP:0001591 HP:0001591 Bell-shaped thorax Phenotypic_abnormality 6 HP:0001604 HP:0001604 Vocal cord paresis Phenotypic_abnormality 6 HP:0001605 HP:0001605 Vocal cord paralysis Phenotypic_abnormality 6 HP:0001606 HP:0001606 Vocal cord paralysis (caused by tumor impingement) Phenotypic_abnormality 6 HP:0001629 HP:0001629 Ventricular septal defect Phenotypic_abnormality 6 HP:0001634 HP:0001634 Mitral valve prolapse Phenotypic_abnormality 6 HP:0001639 HP:0001639 Hypertrophic cardiomyopathy Phenotypic_abnormality 6 HP:0001642 HP:0001642 Pulmonic stenosis Phenotypic_abnormality 6 HP:0001644 HP:0001644 Dilated cardiomyopathy Phenotypic_abnormality 6 HP:0001647 HP:0001647 Bicuspid aortic valve Phenotypic_abnormality 6 HP:0001648 HP:0001648 Cor pulmonale Phenotypic_abnormality 6 HP:0001650 HP:0001650 Aortic valve stenosis Phenotypic_abnormality 6 HP:0001653 HP:0001653 Mitral regurgitation Phenotypic_abnormality 6 HP:0001659 HP:0001659 Aortic regurgitation Phenotypic_abnormality 6 HP:0001667 HP:0001667 Right ventricular hypertrophy Phenotypic_abnormality 6 HP:0001674 HP:0001674 Complete atrioventricular canal defect Phenotypic_abnormality 6 HP:0001692 HP:0001692 Primary atrial arrhythmia Phenotypic_abnormality 6 HP:0001704 HP:0001704 Tricuspid valve prolapse Phenotypic_abnormality 6 HP:0001705 HP:0001705 Right ventricular outlet obstruction Phenotypic_abnormality 6 HP:0001708 HP:0001708 Right ventricular failure Phenotypic_abnormality 6 HP:0001709 HP:0001709 Third degree atrioventricular block Phenotypic_abnormality 6 HP:0001712 HP:0001712 Left ventricular hypertrophy Phenotypic_abnormality 6 HP:0001716 HP:0001716 Wolff-Parkinson-White syndrome Phenotypic_abnormality 6 HP:0001718 HP:0001718 Mitral stenosis Phenotypic_abnormality 6 HP:0001723 HP:0001723 Restrictive cardiomyopathy Phenotypic_abnormality 6 HP:0001735 HP:0001735 Acute pancreatitis Phenotypic_abnormality 6 HP:0001760 HP:0001760 Abnormality of the foot Phenotypic_abnormality 6 HP:0001780 HP:0001780 Abnormality of toe Phenotypic_abnormality 6 HP:0001800 HP:0001800 Hypoplastic toenails Phenotypic_abnormality 6 HP:0001802 HP:0001802 Absent toenail Phenotypic_abnormality 6 HP:0001804 HP:0001804 Hypoplastic fingernail Phenotypic_abnormality 6 HP:0001812 HP:0001812 Hyperconvex fingernails Phenotypic_abnormality 6 HP:0001817 HP:0001817 Absent fingernail Phenotypic_abnormality 6 HP:0001839 HP:0001839 Split foot Phenotypic_abnormality 6 HP:0001868 HP:0001868 Autoamputation (feet) Phenotypic_abnormality 6 HP:0001874 HP:0001874 Abnormality of neutrophils Phenotypic_abnormality 6 HP:0001879 HP:0001879 Abnormality of eosinophils Phenotypic_abnormality 6 HP:0001880 HP:0001880 Eosinophilia Phenotypic_abnormality 6 HP:0001886 HP:0001886 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Phenotypic_abnormality 6 HP:0001889 HP:0001889 Megaloblastic anemia Phenotypic_abnormality 6 HP:0001891 HP:0001891 Iron deficiency anemia Phenotypic_abnormality 6 HP:0001912 HP:0001912 Abnormality of basophils Phenotypic_abnormality 6 HP:0001913 HP:0001913 Granulocytopenia Phenotypic_abnormality 6 HP:0001920 HP:0001920 Renal artery stenosis Phenotypic_abnormality 6 HP:0001930 HP:0001930 Nonspherocytic hemolytic anemia Phenotypic_abnormality 6 HP:0001937 HP:0001937 Microangiopathic hemolytic anemia Phenotypic_abnormality 6 HP:0001958 HP:0001958 Nonketotic hypoglycemia Phenotypic_abnormality 6 HP:0001982 HP:0001982 Sea-blue histiocytosis Phenotypic_abnormality 6 HP:0001985 HP:0001985 Hypoketotic hypoglycemia Phenotypic_abnormality 6 HP:0001988 HP:0001988 Recurrent hypoglycemia Phenotypic_abnormality 6 HP:0001992 HP:0001992 Organic aciduria Phenotypic_abnormality 6 HP:0001998 HP:0001998 Neonatal hypoglycemia Phenotypic_abnormality 6 HP:0002002 HP:0002002 Deep philtrum Phenotypic_abnormality 6 HP:0002009 HP:0002009 Potter facies Phenotypic_abnormality 6 HP:0002020 HP:0002020 Gastroesophageal reflux Phenotypic_abnormality 6 HP:0002024 HP:0002024 Malabsorption Phenotypic_abnormality 6 HP:0002032 HP:0002032 Esophageal atresia Phenotypic_abnormality 6 HP:0002034 HP:0002034 Abnormality of the rectum Phenotypic_abnormality 6 HP:0002036 HP:0002036 Hiatus hernia Phenotypic_abnormality 6 HP:0002037 HP:0002037 Inflammation of the large intestine Phenotypic_abnormality 6 HP:0002040 HP:0002040 Esophageal varix Phenotypic_abnormality 6 HP:0002057 HP:0002057 Prominent glabella Phenotypic_abnormality 6 HP:0002058 HP:0002058 Myopathic facies Phenotypic_abnormality 6 HP:0002060 HP:0002060 Abnormality of the cerebrum Phenotypic_abnormality 6 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment Phenotypic_abnormality 6 HP:0002098 HP:0002098 Respiratory distress Phenotypic_abnormality 6 HP:0002110 HP:0002110 Bronchiectasis Phenotypic_abnormality 6 HP:0002119 HP:0002119 Ventriculomegaly Phenotypic_abnormality 6 HP:0002150 HP:0002150 Hypercalciuria Phenotypic_abnormality 6 HP:0002153 HP:0002153 Hyperkalemia Phenotypic_abnormality 6 HP:0002156 HP:0002156 Homocystinuria Phenotypic_abnormality 6 HP:0002160 HP:0002160 Hyperhomocystinemia Phenotypic_abnormality 6 HP:0002194 HP:0002194 Delayed gross motor development Phenotypic_abnormality 6 HP:0002215 HP:0002215 Sparse axillary hair Phenotypic_abnormality 6 HP:0002219 HP:0002219 Facial hypertrichosis Phenotypic_abnormality 6 HP:0002221 HP:0002221 Absent axillary hair Phenotypic_abnormality 6 HP:0002223 HP:0002223 Absent eyebrow Phenotypic_abnormality 6 HP:0002225 HP:0002225 Sparse pubic hair Phenotypic_abnormality 6 HP:0002229 HP:0002229 Alopecia areata Phenotypic_abnormality 6 HP:0002230 HP:0002230 Generalized hirsutism Phenotypic_abnormality 6 HP:0002231 HP:0002231 Sparse body hair Phenotypic_abnormality 6 HP:0002232 HP:0002232 Patchy alopecia Phenotypic_abnormality 6 HP:0002234 HP:0002234 Early balding Phenotypic_abnormality 6 HP:0002244 HP:0002244 Abnormality of the small intestine Phenotypic_abnormality 6 HP:0002248 HP:0002248 Hematemesis Phenotypic_abnormality 6 HP:0002249 HP:0002249 Melena Phenotypic_abnormality 6 HP:0002250 HP:0002250 Abnormality of the large intestine Phenotypic_abnormality 6 HP:0002257 HP:0002257 Chronic rhinitis Phenotypic_abnormality 6 HP:0002266 HP:0002266 Focal clonic seizures Phenotypic_abnormality 6 HP:0002273 HP:0002273 Tetraparesis Phenotypic_abnormality 6 HP:0002287 HP:0002287 Progressive alopecia Phenotypic_abnormality 6 HP:0002289 HP:0002289 Alopecia universalis Phenotypic_abnormality 6 HP:0002292 HP:0002292 Frontal balding Phenotypic_abnormality 6 HP:0002296 HP:0002296 Progressive hypotrichosis Phenotypic_abnormality 6 HP:0002312 HP:0002312 Clumsiness Phenotypic_abnormality 6 HP:0002318 HP:0002318 Cervical myelopathy Phenotypic_abnormality 6 HP:0002330 HP:0002330 Paroxysmal drowsiness Phenotypic_abnormality 6 HP:0002332 HP:0002332 Lack of peer relationships Phenotypic_abnormality 6 HP:0002333 HP:0002333 Motor deterioration Phenotypic_abnormality 6 HP:0002341 HP:0002341 Cervical cord compression Phenotypic_abnormality 6 HP:0002344 HP:0002344 Progressive neurologic deterioration Phenotypic_abnormality 6 HP:0002356 HP:0002356 Writer's cramp Phenotypic_abnormality 6 HP:0002361 HP:0002361 Psychomotor deterioration Phenotypic_abnormality 6 HP:0002370 HP:0002370 Poor coordination Phenotypic_abnormality 6 HP:0002377 HP:0002377 Paraganglioma-related cranial nerve palsy Phenotypic_abnormality 6 HP:0002395 HP:0002395 Lower limb hyperreflexia Phenotypic_abnormality 6 HP:0002410 HP:0002410 Aqueductal stenosis Phenotypic_abnormality 6 HP:0002414 HP:0002414 Spina bifida Phenotypic_abnormality 6 HP:0002419 HP:0002419 Molar tooth sign on MRI Phenotypic_abnormality 6 HP:0002427 HP:0002427 Motor aphasia Phenotypic_abnormality 6 HP:0002445 HP:0002445 Tetraplegia Phenotypic_abnormality 6 HP:0002464 HP:0002464 Spastic dysarthria Phenotypic_abnormality 6 HP:0002474 HP:0002474 Expressive language delay Phenotypic_abnormality 6 HP:0002491 HP:0002491 Spasticity of facial muscles Phenotypic_abnormality 6 HP:0002495 HP:0002495 Impaired vibratory sensation Phenotypic_abnormality 6 HP:0002503 HP:0002503 Spinocerebellar tract degeneration Phenotypic_abnormality 6 HP:0002505 HP:0002505 Progressive inability to walk Phenotypic_abnormality 6 HP:0002507 HP:0002507 Semilobar holoprosencephaly Phenotypic_abnormality 6 HP:0002508 HP:0002508 Brainstem dysplasia Phenotypic_abnormality 6 HP:0002512 HP:0002512 Brain stem compression Phenotypic_abnormality 6 HP:0002545 HP:0002545 Patchy demyelination of subcortical white matter Phenotypic_abnormality 6 HP:0002548 HP:0002548 Parkinsonism with favorable response to dopaminergic medication Phenotypic_abnormality 6 HP:0002549 HP:0002549 Deficit in phonologic short-term memory Phenotypic_abnormality 6 HP:0002550 HP:0002550 Absent facial hair Phenotypic_abnormality 6 HP:0002553 HP:0002553 Highly arched eyebrow Phenotypic_abnormality 6 HP:0002555 HP:0002555 Absent pubic hair Phenotypic_abnormality 6 HP:0002563 HP:0002563 Constrictive pericarditis Phenotypic_abnormality 6 HP:0002566 HP:0002566 Intestinal malrotation Phenotypic_abnormality 6 HP:0002571 HP:0002571 Achalasia Phenotypic_abnormality 6 HP:0002573 HP:0002573 Hematochezia Phenotypic_abnormality 6 HP:0002575 HP:0002575 Tracheoesophageal fistula Phenotypic_abnormality 6 HP:0002576 HP:0002576 Intussusception Phenotypic_abnormality 6 HP:0002578 HP:0002578 Gastroparesis Phenotypic_abnormality 6 HP:0002580 HP:0002580 Volvulus Phenotypic_abnormality 6 HP:0002584 HP:0002584 Intestinal bleeding Phenotypic_abnormality 6 HP:0002592 HP:0002592 Gastric ulcer Phenotypic_abnormality 6 HP:0002593 HP:0002593 Intestinal lymphangiectasia Phenotypic_abnormality 6 HP:0002595 HP:0002595 Ileus Phenotypic_abnormality 6 HP:0002604 HP:0002604 Gastrointestinal telangiectasia Phenotypic_abnormality 6 HP:0002611 HP:0002611 Cholestatic liver disease Phenotypic_abnormality 6 HP:0002622 HP:0002622 Dissecting aortic aneurysm Phenotypic_abnormality 6 HP:0002626 HP:0002626 Venous varicosities of celiac and mesenteric vessels Phenotypic_abnormality 6 HP:0002637 HP:0002637 Cerebral ischemia Phenotypic_abnormality 6 HP:0002648 HP:0002648 Abnormality of calvarial morphology Phenotypic_abnormality 6 HP:0002650 HP:0002650 Scoliosis Phenotypic_abnormality 6 HP:0002666 HP:0002666 Pheochromocytoma Phenotypic_abnormality 6 HP:0002668 HP:0002668 Paraganglioma Phenotypic_abnormality 6 HP:0002672 HP:0002672 Gastrointestinal carcinoma Phenotypic_abnormality 6 HP:0002677 HP:0002677 Small foramen magnum Phenotypic_abnormality 6 HP:0002681 HP:0002681 Deformed sella turcica Phenotypic_abnormality 6 HP:0002684 HP:0002684 Thickened calvaria Phenotypic_abnormality 6 HP:0002690 HP:0002690 Large sella turcica Phenotypic_abnormality 6 HP:0002692 HP:0002692 Hypoplastic facial bones Phenotypic_abnormality 6 HP:0002694 HP:0002694 Sclerosis of skull base Phenotypic_abnormality 6 HP:0002700 HP:0002700 Large foramen magnum Phenotypic_abnormality 6 HP:0002714 HP:0002714 Downturned corners of mouth Phenotypic_abnormality 6 HP:0002723 HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes Phenotypic_abnormality 6 HP:0002726 HP:0002726 Recurrent Staphylococcus aureus infections Phenotypic_abnormality 6 HP:0002737 HP:0002737 Thick skull base Phenotypic_abnormality 6 HP:0002740 HP:0002740 Recurrent E. coli infections Phenotypic_abnormality 6 HP:0002741 HP:0002741 Recurrent Serratia marcescens infections Phenotypic_abnormality 6 HP:0002742 HP:0002742 Recurrent Klebsiella infections Phenotypic_abnormality 6 HP:0002748 HP:0002748 Rickets Phenotypic_abnormality 6 HP:0002749 HP:0002749 Osteomalacia Phenotypic_abnormality 6 HP:0002761 HP:0002761 Generalized joint laxity Phenotypic_abnormality 6 HP:0002766 HP:0002766 Relatively short spine Phenotypic_abnormality 6 HP:0002777 HP:0002777 Tracheal stenosis Phenotypic_abnormality 6 HP:0002779 HP:0002779 Tracheomalacia Phenotypic_abnormality 6 HP:0002780 HP:0002780 Bronchomalacia Phenotypic_abnormality 6 HP:0002783 HP:0002783 Recurrent lower respiratory tract infections Phenotypic_abnormality 6 HP:0002788 HP:0002788 Recurrent upper respiratory tract infections Phenotypic_abnormality 6 HP:0002803 HP:0002803 Congenital contracture Phenotypic_abnormality 6 HP:0002808 HP:0002808 Kyphosis Phenotypic_abnormality 6 HP:0002810 HP:0002810 Dumbbell-shaped metaphyses Phenotypic_abnormality 6 HP:0002823 HP:0002823 Abnormality of the femur Phenotypic_abnormality 6 HP:0002825 HP:0002825 Caudal appendage Phenotypic_abnormality 6 HP:0002828 HP:0002828 Multiple joint contractures Phenotypic_abnormality 6 HP:0002831 HP:0002831 Long coccyx Phenotypic_abnormality 6 HP:0002837 HP:0002837 Recurrent bronchitis Phenotypic_abnormality 6 HP:0002839 HP:0002839 Urinary bladder sphincter dysfunction Phenotypic_abnormality 6 HP:0002842 HP:0002842 Recurrent Burkholderia cepacia infections Phenotypic_abnormality 6 HP:0002858 HP:0002858 Meningioma Phenotypic_abnormality 6 HP:0002862 HP:0002862 Bladder carcinoma Phenotypic_abnormality 6 HP:0002865 HP:0002865 Medullary thyroid carcinoma Phenotypic_abnormality 6 HP:0002870 HP:0002870 Obstructive sleep apnea Phenotypic_abnormality 6 HP:0002875 HP:0002875 Exertional dyspnea Phenotypic_abnormality 6 HP:0002885 HP:0002885 Medulloblastoma Phenotypic_abnormality 6 HP:0002893 HP:0002893 Pituitary adenoma Phenotypic_abnormality 6 HP:0002895 HP:0002895 Papillary thyroid carcinoma Phenotypic_abnormality 6 HP:0002900 HP:0002900 Hypokalemia Phenotypic_abnormality 6 HP:0002901 HP:0002901 Hypocalcemia Phenotypic_abnormality 6 HP:0002902 HP:0002902 Hyponatremia Phenotypic_abnormality 6 HP:0002917 HP:0002917 Hypomagnesemia Phenotypic_abnormality 6 HP:0002918 HP:0002918 Hypermagnesemia Phenotypic_abnormality 6 HP:0002919 HP:0002919 Ketonuria Phenotypic_abnormality 6 HP:0002925 HP:0002925 Thyroid-stimulating hormone excess Phenotypic_abnormality 6 HP:0002927 HP:0002927 Histidinuria Phenotypic_abnormality 6 HP:0002936 HP:0002936 Distal sensory impairment Phenotypic_abnormality 6 HP:0002942 HP:0002942 Thoracic kyphosis Phenotypic_abnormality 6 HP:0002943 HP:0002943 Thoracic scoliosis Phenotypic_abnormality 6 HP:0002945 HP:0002945 Intervertebral space narrowing Phenotypic_abnormality 6 HP:0002948 HP:0002948 Vertebral fusion Phenotypic_abnormality 6 HP:0002953 HP:0002953 Vertebral compression fractures Phenotypic_abnormality 6 HP:0002955 HP:0002955 Granulomatosis Phenotypic_abnormality 6 HP:0002973 HP:0002973 Abnormality of the forearm Phenotypic_abnormality 6 HP:0002979 HP:0002979 Bowing of the legs Phenotypic_abnormality 6 HP:0002981 HP:0002981 Abnormality of the calf Phenotypic_abnormality 6 HP:0002996 HP:0002996 Limited elbow movement Phenotypic_abnormality 6 HP:0003013 HP:0003013 Bulging epiphyses Phenotypic_abnormality 6 HP:0003016 HP:0003016 Metaphyseal widening Phenotypic_abnormality 6 HP:0003021 HP:0003021 Metaphyseal cupping Phenotypic_abnormality 6 HP:0003025 HP:0003025 Metaphyseal irregularity Phenotypic_abnormality 6 HP:0003044 HP:0003044 Shoulder flexion contracture Phenotypic_abnormality 6 HP:0003051 HP:0003051 Enlarged metaphyses Phenotypic_abnormality 6 HP:0003070 HP:0003070 Elbow ankylosis Phenotypic_abnormality 6 HP:0003072 HP:0003072 Hypercalcemia Phenotypic_abnormality 6 HP:0003076 HP:0003076 Glycosuria Phenotypic_abnormality 6 HP:0003080 HP:0003080 Hydroxyprolinuria Phenotypic_abnormality 6 HP:0003088 HP:0003088 Premature osteoarthritis Phenotypic_abnormality 6 HP:0003108 HP:0003108 Hyperglycinuria Phenotypic_abnormality 6 HP:0003121 HP:0003121 Limb joint contracture Phenotypic_abnormality 6 HP:0003126 HP:0003126 Low-molecular-weight proteinuria Phenotypic_abnormality 6 HP:0003127 HP:0003127 Hypocalciuria Phenotypic_abnormality 6 HP:0003131 HP:0003131 Cystinuria Phenotypic_abnormality 6 HP:0003137 HP:0003137 Prolinuria Phenotypic_abnormality 6 HP:0003140 HP:0003140 T-wave inversion in the right precordial leads Phenotypic_abnormality 6 HP:0003141 HP:0003141 Hyperbetalipoproteinemia Phenotypic_abnormality 6 HP:0003160 HP:0003160 Abnormal isoelectric focusing of serum transferrin Phenotypic_abnormality 6 HP:0003185 HP:0003185 Small sacroiliac notches Phenotypic_abnormality 6 HP:0003189 HP:0003189 Long nose Phenotypic_abnormality 6 HP:0003194 HP:0003194 Short nasal bridge Phenotypic_abnormality 6 HP:0003196 HP:0003196 Short nose Phenotypic_abnormality 6 HP:0003228 HP:0003228 Hypernatremia Phenotypic_abnormality 6 HP:0003231 HP:0003231 Hypertyrosinemia Phenotypic_abnormality 6 HP:0003233 HP:0003233 Hypoalphalipoproteinemia Phenotypic_abnormality 6 HP:0003235 HP:0003235 Hypermethioninemia Phenotypic_abnormality 6 HP:0003248 HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex Phenotypic_abnormality 6 HP:0003251 HP:0003251 Male infertility Phenotypic_abnormality 6 HP:0003260 HP:0003260 Hydroxyprolinemia Phenotypic_abnormality 6 HP:0003268 HP:0003268 Argininuria Phenotypic_abnormality 6 HP:0003269 HP:0003269 Sudanophilic leukodystrophy Phenotypic_abnormality 6 HP:0003281 HP:0003281 Increased serum ferritin Phenotypic_abnormality 6 HP:0003296 HP:0003296 Hyperthreoninuria Phenotypic_abnormality 6 HP:0003297 HP:0003297 Hyperlysinuria Phenotypic_abnormality 6 HP:0003307 HP:0003307 Hyperlordosis Phenotypic_abnormality 6 HP:0003308 HP:0003308 Cervical subluxation Phenotypic_abnormality 6 HP:0003311 HP:0003311 Hypoplasia of the odontoid process Phenotypic_abnormality 6 HP:0003312 HP:0003312 Abnormal form of the vertebral bodies Phenotypic_abnormality 6 HP:0003318 HP:0003318 Cervical spine hypermobility Phenotypic_abnormality 6 HP:0003341 HP:0003341 Junctional split Phenotypic_abnormality 6 HP:0003361 HP:0003361 Tryptophanuria Phenotypic_abnormality 6 HP:0003362 HP:0003362 Increased circulating very-low-density lipoprotein cholesterol Phenotypic_abnormality 6 HP:0003371 HP:0003371 Enlargement of the proximal femoral epiphysis Phenotypic_abnormality 6 HP:0003375 HP:0003375 Narrow greater sacrosciatic notches Phenotypic_abnormality 6 HP:0003387 HP:0003387 Decreased number of large peripheral myelinated nerve fibers Phenotypic_abnormality 6 HP:0003390 HP:0003390 Sensory axonal neuropathy Phenotypic_abnormality 6 HP:0003396 HP:0003396 Syringomyelia Phenotypic_abnormality 6 HP:0003400 HP:0003400 Basal lamina 'onion bulb' formation Phenotypic_abnormality 6 HP:0003401 HP:0003401 Paresthesia Phenotypic_abnormality 6 HP:0003409 HP:0003409 Distal sensory impairment of all modalities Phenotypic_abnormality 6 HP:0003414 HP:0003414 Atlantoaxial dislocation Phenotypic_abnormality 6 HP:0003419 HP:0003419 Low back pain Phenotypic_abnormality 6 HP:0003422 HP:0003422 Vertebral segmentation defect Phenotypic_abnormality 6 HP:0003426 HP:0003426 First dorsal interossei muscle atrophy Phenotypic_abnormality 6 HP:0003434 HP:0003434 Sensory ataxic neuropathy Phenotypic_abnormality 6 HP:0003440 HP:0003440 Horizontal sacrum Phenotypic_abnormality 6 HP:0003452 HP:0003452 Increased serum iron Phenotypic_abnormality 6 HP:0003463 HP:0003463 Increased extraneuronal autofluorescent lipopigment Phenotypic_abnormality 6 HP:0003467 HP:0003467 Atlantoaxial instability Phenotypic_abnormality 6 HP:0003481 HP:0003481 Segmental peripheral demyelination/remyelination Phenotypic_abnormality 6 HP:0003524 HP:0003524 Decreased methionine synthase activity Phenotypic_abnormality 6 HP:0003527 HP:0003527 Hyperprostaglandinuria Phenotypic_abnormality 6 HP:0003562 HP:0003562 Abnormal metaphyseal vascular invasion Phenotypic_abnormality 6 HP:0003563 HP:0003563 Hypobetalipoproteinemia Phenotypic_abnormality 6 HP:0003566 HP:0003566 Increased serum prostaglandin E2 Phenotypic_abnormality 6 HP:0003575 HP:0003575 Increased intracellular sodium Phenotypic_abnormality 6 HP:0003609 HP:0003609 Foam cells with lamellar inclusion bodies Phenotypic_abnormality 6 HP:0003612 HP:0003612 Positive ferric chloride test Phenotypic_abnormality 6 HP:0003640 HP:0003640 Foam cells in visceral organs and CNS Phenotypic_abnormality 6 HP:0003646 HP:0003646 Bicarbonaturia Phenotypic_abnormality 6 HP:0003652 HP:0003652 Recurrent myoglobinuria Phenotypic_abnormality 6 HP:0003653 HP:0003653 Cellular metachromasia Phenotypic_abnormality 6 HP:0003691 HP:0003691 Scapular winging Phenotypic_abnormality 6 HP:0003729 HP:0003729 Enteroviral dermatomyositis syndrome Phenotypic_abnormality 6 HP:0003731 HP:0003731 Quadriceps muscle weakness Phenotypic_abnormality 6 HP:0003739 HP:0003739 Myoclonic spasms Phenotypic_abnormality 6 HP:0003765 HP:0003765 Psoriasis Phenotypic_abnormality 6 HP:0003783 HP:0003783 Externally rotated/abducted legs Phenotypic_abnormality 6 HP:0003798 HP:0003798 Nemaline bodies Phenotypic_abnormality 6 HP:0003834 HP:0003834 Shoulder dislocation Phenotypic_abnormality 6 HP:0003836 HP:0003836 Stippled calcification of the shoulder Phenotypic_abnormality 6 HP:0003837 HP:0003837 Soft-tissue ossification around the shoulders Phenotypic_abnormality 6 HP:0003839 HP:0003839 Abnormality involving the epiphyses of the upper limbs Phenotypic_abnormality 6 HP:0003841 HP:0003841 Fragmented epiphyses of the upper limbs Phenotypic_abnormality 6 HP:0003842 HP:0003842 Irregular epiphyses of the upper limbs Phenotypic_abnormality 6 HP:0003844 HP:0003844 Small epiphyses of the upper limbs Phenotypic_abnormality 6 HP:0003867 HP:0003867 Cortical irregularity (humeral) Phenotypic_abnormality 6 HP:0003869 HP:0003869 Cortical thinning (humeral) Phenotypic_abnormality 6 HP:0003872 HP:0003872 Exostoses (humeral) Phenotypic_abnormality 6 HP:0003895 HP:0003895 Flattened humeral epiphyses Phenotypic_abnormality 6 HP:0003898 HP:0003898 Large humeral epiphyses Phenotypic_abnormality 6 HP:0003904 HP:0003904 Wide epiphyses of the upper limbs Phenotypic_abnormality 6 HP:0003940 HP:0003940 Osteoarthritis of the elbow Phenotypic_abnormality 6 HP:0004000 HP:0004000 Chevron-shaped/cone-shaped radial epiphyses Phenotypic_abnormality 6 HP:0004002 HP:0004002 Flattened radial epiphyses Phenotypic_abnormality 6 HP:0004004 HP:0004004 Irregular radial epiphyses Phenotypic_abnormality 6 HP:0004005 HP:0004005 Large radial epiphyses Phenotypic_abnormality 6 HP:0004010 HP:0004010 Small radial epiphyses Phenotypic_abnormality 6 HP:0004020 HP:0004020 Irregular ossification of the radial metaphysis Phenotypic_abnormality 6 HP:0004054 HP:0004054 Sclerosis of hand bone Phenotypic_abnormality 6 HP:0004099 HP:0004099 Macrodactyly Phenotypic_abnormality 6 HP:0004122 HP:0004122 Midline defect of the nose Phenotypic_abnormality 6 HP:0004234 HP:0004234 Bone-in-a-bone appearance of carpal bones Phenotypic_abnormality 6 HP:0012385 HP:0012385 Camptodactyly Phenotypic_abnormality 6 HP:0012388 HP:0012388 Acute bronchitis Phenotypic_abnormality 6 HP:0012402 HP:0012402 Increased urine alpha-ketoglutarate concentration Phenotypic_abnormality 6 HP:0012403 HP:0012403 Decreased urine alpha-ketoglutarate concentration Phenotypic_abnormality 6 HP:0012405 HP:0012405 Hypocitraturia Phenotypic_abnormality 6 HP:0012406 HP:0012406 Hypercitraturia Phenotypic_abnormality 6 HP:0012437 HP:0012437 Abnormal gallbladder morphology Phenotypic_abnormality 6 HP:0012438 HP:0012438 Abnormal gallbladder physiology Phenotypic_abnormality 6 HP:0012439 HP:0012439 Abnormal biliary tract physiology Phenotypic_abnormality 6 HP:0012440 HP:0012440 Abnormal biliary tract morphology Phenotypic_abnormality 6 HP:0012455 HP:0012455 Large artery calcification Phenotypic_abnormality 6 HP:0012456 HP:0012456 Medial arterial calcification Phenotypic_abnormality 6 HP:0012462 HP:0012462 Chin myoclonus Phenotypic_abnormality 6 HP:0012463 HP:0012463 Elevated transferrin saturation Phenotypic_abnormality 6 HP:0012464 HP:0012464 Decreased transferrin saturation Phenotypic_abnormality 6 HP:0012465 HP:0012465 Elevated hepatic iron concentration Phenotypic_abnormality 6 HP:0012471 HP:0012471 Thick vermilion border Phenotypic_abnormality 6 HP:0012472 HP:0012472 Eclabion Phenotypic_abnormality 6 HP:0012480 HP:0012480 Abnormality of cerebral veins Phenotypic_abnormality 6 HP:0012499 HP:0012499 Descending aortic dissection Phenotypic_abnormality 6 HP:0012501 HP:0012501 Abnormality of the brainstem white matter Phenotypic_abnormality 6 HP:0012507 HP:0012507 Weakness of orbicularis oculi muscle Phenotypic_abnormality 6 HP:0012515 HP:0012515 Hip flexor weakness Phenotypic_abnormality 6 HP:0012516 HP:0012516 Tetralogy of Fallot with pulmonary atresia Phenotypic_abnormality 6 HP:0012520 HP:0012520 Perivascular spaces Phenotypic_abnormality 6 HP:0012525 HP:0012525 Abnormal alpha granule distribution Phenotypic_abnormality 6 HP:0012527 HP:0012527 Abnormal alpha granule content Phenotypic_abnormality 6 HP:0012528 HP:0012528 Abnormal number of alpha granules Phenotypic_abnormality 6 HP:0012529 HP:0012529 Abnormal dense granule content Phenotypic_abnormality 6 HP:0012530 HP:0012530 Abnormal number of dense granules Phenotypic_abnormality 6 HP:0012561 HP:0012561 Unicuspid aortic valve Phenotypic_abnormality 6 HP:0012562 HP:0012562 Premature epimetaphyseal fusion in hand Phenotypic_abnormality 6 HP:0012563 HP:0012563 Premature epimetaphyseal fusion in foot Phenotypic_abnormality 6 HP:0012564 HP:0012564 Premature epimetaphyseal fusion in tibia Phenotypic_abnormality 6 HP:0012565 HP:0012565 Premature epimetaphyseal fusion in fibula Phenotypic_abnormality 6 HP:0012566 HP:0012566 Premature epimetaphyseal fusion in radius Phenotypic_abnormality 6 HP:0012567 HP:0012567 Premature epimetaphyseal fusion in ulna Phenotypic_abnormality 6 HP:0012575 HP:0012575 Abnormality of the nephron Phenotypic_abnormality 6 HP:0012585 HP:0012585 Renal atrophy Phenotypic_abnormality 6 HP:0012592 HP:0012592 Albuminuria Phenotypic_abnormality 6 HP:0012593 HP:0012593 Nephrotic range proteinuria Phenotypic_abnormality 6 HP:0012595 HP:0012595 Mild proteinuria Phenotypic_abnormality 6 HP:0012596 HP:0012596 Moderate proteinuria Phenotypic_abnormality 6 HP:0012597 HP:0012597 Heavy proteinuria Phenotypic_abnormality 6 HP:0012598 HP:0012598 Abnormal urine potassium concentration Phenotypic_abnormality 6 HP:0012599 HP:0012599 Abnormal urine phosphate concentration Phenotypic_abnormality 6 HP:0012600 HP:0012600 Abnormal urine chloride concentration Phenotypic_abnormality 6 HP:0012603 HP:0012603 Abnormal urine sodium concentration Phenotypic_abnormality 6 HP:0012607 HP:0012607 Abnormal urine magnesium concentration Phenotypic_abnormality 6 HP:0012615 HP:0012615 Cylindruria Phenotypic_abnormality 6 HP:0012618 HP:0012618 Urachal cyst Phenotypic_abnormality 6 HP:0012619 HP:0012619 Multiple bladder diverticula Phenotypic_abnormality 6 HP:0012629 HP:0012629 Phacodonesis Phenotypic_abnormality 6 HP:0012630 HP:0012630 Abnormality of the trabecular meshwork Phenotypic_abnormality 6 HP:0012637 HP:0012637 Renal calcium wasting Phenotypic_abnormality 6 HP:0012655 HP:0012655 Elevated CSF dopamine level Phenotypic_abnormality 6 HP:0012656 HP:0012656 Reduced CSF dopamine level Phenotypic_abnormality 6 HP:0012671 HP:0012671 Abulia Phenotypic_abnormality 6 HP:0012672 HP:0012672 Akinetic mutism Phenotypic_abnormality 6 HP:0012677 HP:0012677 Iron accumulation in globus pallidus Phenotypic_abnormality 6 HP:0012678 HP:0012678 Iron accumulation in substantia nigra Phenotypic_abnormality 6 HP:0012698 HP:0012698 Cerebellar gliosis Phenotypic_abnormality 6 HP:0012699 HP:0012699 Anomaly of lower limb diaphyses Phenotypic_abnormality 6 HP:0012734 HP:0012734 Ketotic hypoglycemia Phenotypic_abnormality 6 HP:0012736 HP:0012736 Profound global developmental delay Phenotypic_abnormality 6 HP:0012737 HP:0012737 Small intestinal polyp Phenotypic_abnormality 6 HP:0012747 HP:0012747 Abnormal brainstem MRI signal intensity Phenotypic_abnormality 6 HP:0012755 HP:0012755 Enlarged brainstem Phenotypic_abnormality 6 HP:0012756 HP:0012756 CSF polymorphonuclear pleocytosis Phenotypic_abnormality 6 HP:0012761 HP:0012761 Absent mastoid Phenotypic_abnormality 6 HP:0012763 HP:0012763 Paroxysmal dyspnea Phenotypic_abnormality 6 HP:0012764 HP:0012764 Orthopnea Phenotypic_abnormality 6 HP:0012765 HP:0012765 Widened cerebellar subarachnoid space Phenotypic_abnormality 6 HP:0012766 HP:0012766 Widened cerebral subarachnoid space Phenotypic_abnormality 6 HP:0012768 HP:0012768 Neonatal asphyxia Phenotypic_abnormality 6 HP:0012769 HP:0012769 Abnormal arm span Phenotypic_abnormality 6 HP:0012791 HP:0012791 Abnormal humeral ossification Phenotypic_abnormality 6 HP:0012793 HP:0012793 Kinked brainstem Phenotypic_abnormality 6 HP:0012806 HP:0012806 Proboscis Phenotypic_abnormality 6 HP:0012809 HP:0012809 Narrow nasal base Phenotypic_abnormality 6 HP:0012810 HP:0012810 Wide nasal base Phenotypic_abnormality 6 HP:0012812 HP:0012812 Fullness of paranasal tissue Phenotypic_abnormality 6 HP:0012815 HP:0012815 Hypoplastic female external genitalia Phenotypic_abnormality 6 HP:0012817 HP:0012817 Noncompaction cardiomyopathy Phenotypic_abnormality 6 HP:0100015 HP:0100015 Stahl ear Phenotypic_abnormality 6 HP:0100027 HP:0100027 Recurrent pancreatitis Phenotypic_abnormality 6 HP:0100029 HP:0100029 Lingual thyroid Phenotypic_abnormality 6 HP:0100030 HP:0100030 Accessory ectopic thyroid tissue Phenotypic_abnormality 6 HP:0100238 HP:0100238 Synostosis involving bones of the upper limbs Phenotypic_abnormality 6 HP:0100251 HP:0100251 Lipomas of the central neryous system Phenotypic_abnormality 6 HP:0100254 HP:0100254 Stenosis of the medullary cavity of the long bones Phenotypic_abnormality 6 HP:0100262 HP:0100262 Synostosis involving digits Phenotypic_abnormality 6 HP:0100265 HP:0100265 Synostosis of metacarpals/metatarsals Phenotypic_abnormality 6 HP:0100266 HP:0100266 Synostosis of carpals/tarsals Phenotypic_abnormality 6 HP:0100300 HP:0100300 Desmin bodies Phenotypic_abnormality 6 HP:0100301 HP:0100301 Muscle fiber tubular inclusions Phenotypic_abnormality 6 HP:0100302 HP:0100302 Muscle fiber tubuloreticular inclusions Phenotypic_abnormality 6 HP:0100306 HP:0100306 Muscle fiber hyaline bodies Phenotypic_abnormality 6 HP:0100311 HP:0100311 Cerebral ventricular adhesions Phenotypic_abnormality 6 HP:0100312 HP:0100312 Cerebral germinoma Phenotypic_abnormality 6 HP:0100322 HP:0100322 Aplasia of the pyramidal tract Phenotypic_abnormality 6 HP:0100324 HP:0100324 Scleroderma Phenotypic_abnormality 6 HP:0100492 HP:0100492 Joint contractures involving the joints of the feet Phenotypic_abnormality 6 HP:0100495 HP:0100495 Mastocytosis Phenotypic_abnormality 6 HP:0100515 HP:0100515 Pollakisuria Phenotypic_abnormality 6 HP:0100518 HP:0100518 Dysuria Phenotypic_abnormality 6 HP:0100525 HP:0100525 Urachus fistula Phenotypic_abnormality 6 HP:0100528 HP:0100528 Pleuropulmonary blastoma Phenotypic_abnormality 6 HP:0100540 HP:0100540 Palpebral edema Phenotypic_abnormality 6 HP:0100542 HP:0100542 Abnormal localization of kidney Phenotypic_abnormality 6 HP:0100551 HP:0100551 Neoplasm of the trachea Phenotypic_abnormality 6 HP:0100553 HP:0100553 Hemihypertrophy of lower limb Phenotypic_abnormality 6 HP:0100554 HP:0100554 Hemihypertrophy of upper limb Phenotypic_abnormality 6 HP:0100558 HP:0100558 Hemiatrophy of upper limb Phenotypic_abnormality 6 HP:0100562 HP:0100562 Diplomyelia Phenotypic_abnormality 6 HP:0100563 HP:0100563 Diastomatomyelia Phenotypic_abnormality 6 HP:0100564 HP:0100564 Triplomyelia Phenotypic_abnormality 6 HP:0100565 HP:0100565 Hydromyelia Phenotypic_abnormality 6 HP:0100566 HP:0100566 Amyelia Phenotypic_abnormality 6 HP:0100569 HP:0100569 Abnormal vertebral ossification Phenotypic_abnormality 6 HP:0100572 HP:0100572 Fibrous cardiac diverticulum Phenotypic_abnormality 6 HP:0100573 HP:0100573 Muscular cardiac diverticulum Phenotypic_abnormality 6 HP:0100579 HP:0100579 Mucosal telangiectasiae Phenotypic_abnormality 6 HP:0100582 HP:0100582 Nasal polyposis Phenotypic_abnormality 6 HP:0100583 HP:0100583 Corneal perforation Phenotypic_abnormality 6 HP:0100585 HP:0100585 Teleangiectasia of the skin Phenotypic_abnormality 6 HP:0100594 HP:0100594 Esophageal web Phenotypic_abnormality 6 HP:0100595 HP:0100595 Camptocormia Phenotypic_abnormality 6 HP:0100596 HP:0100596 Absent nares Phenotypic_abnormality 6 HP:0100615 HP:0100615 Ovarian neoplasm Phenotypic_abnormality 6 HP:0100625 HP:0100625 Enlarged thorax Phenotypic_abnormality 6 HP:0100626 HP:0100626 Chronic hepatic failure Phenotypic_abnormality 6 HP:0100628 HP:0100628 Esophageal diverticulum Phenotypic_abnormality 6 HP:0100633 HP:0100633 Esophagitis Phenotypic_abnormality 6 HP:0100647 HP:0100647 Graves disease Phenotypic_abnormality 6 HP:0100657 HP:0100657 Celosomia Phenotypic_abnormality 6 HP:0100661 HP:0100661 Trigeminal neuralgia Phenotypic_abnormality 6 HP:0100668 HP:0100668 Intestinal duplication Phenotypic_abnormality 6 HP:0100679 HP:0100679 Lack of skin elasticity Phenotypic_abnormality 6 HP:0100681 HP:0100681 Esophageal duplication Phenotypic_abnormality 6 HP:0100691 HP:0100691 Abnormality of the curvature of the cornea Phenotypic_abnormality 6 HP:0100693 HP:0100693 Iridodonesis Phenotypic_abnormality 6 HP:0100698 HP:0100698 Subcutaneous neurofibromas Phenotypic_abnormality 6 HP:0100702 HP:0100702 Arachnoid cyst Phenotypic_abnormality 6 HP:0100709 HP:0100709 Reduction of oligodendroglia Phenotypic_abnormality 6 HP:0100710 HP:0100710 Impulsivity Phenotypic_abnormality 6 HP:0100716 HP:0100716 Self-injurious behavior Phenotypic_abnormality 6 HP:0100727 HP:0100727 Histiocytosis Phenotypic_abnormality 6 HP:0100728 HP:0100728 Germ cell neoplasia Phenotypic_abnormality 6 HP:0100755 HP:0100755 Abnormality of salivation Phenotypic_abnormality 6 HP:0100761 HP:0100761 Visceral angiomatosis Phenotypic_abnormality 6 HP:0100770 HP:0100770 Hyperperistalsis Phenotypic_abnormality 6 HP:0100771 HP:0100771 Hypoperistalsis Phenotypic_abnormality 6 HP:0100775 HP:0100775 Dural ectasia Phenotypic_abnormality 6 HP:0100788 HP:0100788 Fused lips Phenotypic_abnormality 6 HP:0100792 HP:0100792 Acantholysis Phenotypic_abnormality 6 HP:0100795 HP:0100795 Abnormally straight spine Phenotypic_abnormality 6 HP:0100800 HP:0100800 Aplasia/Hypoplasia of the pancreas Phenotypic_abnormality 6 HP:0100802 HP:0100802 Malposition of the stomach Phenotypic_abnormality 6 HP:0100808 HP:0100808 Gastric diverticulum Phenotypic_abnormality 6 HP:0100812 HP:0100812 Halitosis Phenotypic_abnormality 6 HP:0100816 HP:0100816 Lip hyperpigmentation Phenotypic_abnormality 6 HP:0100819 HP:0100819 Intestinal fistula Phenotypic_abnormality 6 HP:0100825 HP:0100825 Cheilitis Phenotypic_abnormality 6 HP:0100828 HP:0100828 Increase in T cell number Phenotypic_abnormality 6 HP:0100840 HP:0100840 Aplasia/Hypoplasia of the eyebrow Phenotypic_abnormality 6 HP:0100841 HP:0100841 Microgastria Phenotypic_abnormality 6 HP:0100859 HP:0100859 Superior mesenteric artery aneurysm Phenotypic_abnormality 6 HP:0100860 HP:0100860 Inferior mesenteric artery aneurysm Phenotypic_abnormality 6 HP:0100861 HP:0100861 Vertebral body sclerosis Phenotypic_abnormality 6 HP:0100880 HP:0100880 Nephrogenic rest Phenotypic_abnormality 6 HP:0100892 HP:0100892 Abnormality of the xiphoid process Phenotypic_abnormality 6 HP:0100923 HP:0100923 Clavicular sclerosis Phenotypic_abnormality 6 HP:0100925 HP:0100925 Sclerosis of foot bone Phenotypic_abnormality 6 HP:0100957 HP:0100957 Abnormality of the renal medulla Phenotypic_abnormality 6 HP:0100959 HP:0100959 Dense metaphyseal bands Phenotypic_abnormality 6 HP:0100960 HP:0100960 Asymmetric ventricles Phenotypic_abnormality 6 HP:0100963 HP:0100963 Hyperesthesia Phenotypic_abnormality 6 HP:0200015 HP:0200015 Symmetric great toe depigmentation Phenotypic_abnormality 6 HP:0200021 HP:0200021 Down-sloping shoulders Phenotypic_abnormality 6 HP:0200022 HP:0200022 Choroid plexus papilloma Phenotypic_abnormality 6 HP:0200030 HP:0200030 Punctate vasculitis skin lesions Phenotypic_abnormality 6 HP:0200039 HP:0200039 Pustule Phenotypic_abnormality 6 HP:0200048 HP:0200048 Cyanotic episode Phenotypic_abnormality 6 HP:0200049 HP:0200049 Upper limb hypertonia Phenotypic_abnormality 6 HP:0200068 HP:0200068 Nonprogressive visual loss Phenotypic_abnormality 6 HP:0200097 HP:0200097 Oral mucusa blisters Phenotypic_abnormality 6 HP:0200101 HP:0200101 Decreased/absent ankle reflexes Phenotypic_abnormality 6 HP:0200106 HP:0200106 Absent/shortened dynein arms Phenotypic_abnormality 6 HP:0200111 HP:0200111 Absent stapes head Phenotypic_abnormality 6 HP:0200120 HP:0200120 Chronic active hepatitis Phenotypic_abnormality 6 HP:0200124 HP:0200124 Chronic hepatitis due to cryptospridium infection Phenotypic_abnormality 6 HP:0200127 HP:0200127 Atrial cardiomyopathy Phenotypic_abnormality 6 HP:0200130 HP:0200130 Congestive cardiomyopathy Phenotypic_abnormality 6 HP:0200133 HP:0200133 Lumbosacral meningocele Phenotypic_abnormality 6 HP:0200143 HP:0200143 Megaloblastic erythroid hyperplasia Phenotypic_abnormality 6 HP:0200149 HP:0200149 CSF lymphocytic pleiocytosis Phenotypic_abnormality 6 HP:0012376 HP:0012376 Microphakia Phenotypic_abnormality 7 HP:0012390 HP:0012390 Anal fissure Phenotypic_abnormality 7 HP:0012396 HP:0012396 Biliary dyskinesia Phenotypic_abnormality 7 HP:0012408 HP:0012408 Medullary nephrocalcinosis Phenotypic_abnormality 7 HP:0012409 HP:0012409 Cortical nephrocalcinosis Phenotypic_abnormality 7 HP:0012422 HP:0012422 Villous hypertrophy of choroid plexus Phenotypic_abnormality 7 HP:0012425 HP:0012425 Stercoral ulcer Phenotypic_abnormality 7 HP:0012427 HP:0012427 Excessive femoral anteversion Phenotypic_abnormality 7 HP:0012436 HP:0012436 Nonocclusive coronary artery disease Phenotypic_abnormality 7 HP:0012457 HP:0012457 Medial calcification of medium-sized arteries Phenotypic_abnormality 7 HP:0012458 HP:0012458 Medial calcification of small arteries Phenotypic_abnormality 7 HP:0012473 HP:0012473 Tongue atrophy Phenotypic_abnormality 7 HP:0012481 HP:0012481 Cerebral venous angioma Phenotypic_abnormality 7 HP:0012487 HP:0012487 Cerebellopontine angle arachnoid cyst Phenotypic_abnormality 7 HP:0012488 HP:0012488 Intraventricular arachnoid cyst Phenotypic_abnormality 7 HP:0012489 HP:0012489 Suprasellar arachnoid cyst Phenotypic_abnormality 7 HP:0012492 HP:0012492 Cerebral artery stenosis Phenotypic_abnormality 7 HP:0012518 HP:0012518 Abnormality of circle of Willis Phenotypic_abnormality 7 HP:0012522 HP:0012522 Spider hemangioma Phenotypic_abnormality 7 HP:0012526 HP:0012526 Absence of alpha granules Phenotypic_abnormality 7 HP:0012534 HP:0012534 Dysesthesia Phenotypic_abnormality 7 HP:0012550 HP:0012550 Colonic varices Phenotypic_abnormality 7 HP:0012553 HP:0012553 Hypoplastic thumbnail Phenotypic_abnormality 7 HP:0012554 HP:0012554 Absent thumbnail Phenotypic_abnormality 7 HP:0012555 HP:0012555 Absent nail of hallux Phenotypic_abnormality 7 HP:0012581 HP:0012581 Solitary renal cyst Phenotypic_abnormality 7 HP:0012582 HP:0012582 Bilateral renal dysplasia Phenotypic_abnormality 7 HP:0012586 HP:0012586 Bilateral renal atrophy Phenotypic_abnormality 7 HP:0012587 HP:0012587 Macroscopic hematuria Phenotypic_abnormality 7 HP:0012588 HP:0012588 Steroid-resistant nephrotic syndrome Phenotypic_abnormality 7 HP:0012589 HP:0012589 Multidrug-resistant nephrotic syndrome Phenotypic_abnormality 7 HP:0012590 HP:0012590 Abnormal urine output Phenotypic_abnormality 7 HP:0012594 HP:0012594 Microalbuminuria Phenotypic_abnormality 7 HP:0012601 HP:0012601 Hypochloriduria Phenotypic_abnormality 7 HP:0012602 HP:0012602 Renal chloride wasting Phenotypic_abnormality 7 HP:0012604 HP:0012604 Hyponatriuria Phenotypic_abnormality 7 HP:0012605 HP:0012605 Hypernatriuria Phenotypic_abnormality 7 HP:0012606 HP:0012606 Renal sodium wasting Phenotypic_abnormality 7 HP:0012608 HP:0012608 Hypermagnesiuria Phenotypic_abnormality 7 HP:0012609 HP:0012609 Hypomagnesiuria Phenotypic_abnormality 7 HP:0012616 HP:0012616 Leukocyte cylindruria Phenotypic_abnormality 7 HP:0012617 HP:0012617 Erythrocyte cylindruria Phenotypic_abnormality 7 HP:0012622 HP:0012622 Chronic kidney disease Phenotypic_abnormality 7 HP:0012631 HP:0012631 Pigment deposition in the trabecular meshwork Phenotypic_abnormality 7 HP:0012634 HP:0012634 Iris pigment dispersion Phenotypic_abnormality 7 HP:0012635 HP:0012635 Iris hypoperfusion Phenotypic_abnormality 7 HP:0012646 HP:0012646 Retractile testis Phenotypic_abnormality 7 HP:0012700 HP:0012700 Abnormal large intestine physiology Phenotypic_abnormality 7 HP:0012711 HP:0012711 Delayed ossification of vertebral epiphysis Phenotypic_abnormality 7 HP:0012725 HP:0012725 Cutaneous syndactyly Phenotypic_abnormality 7 HP:0012726 HP:0012726 Episodic hypokalemia Phenotypic_abnormality 7 HP:0012727 HP:0012727 Thoracic aortic aneurysm Phenotypic_abnormality 7 HP:0012739 HP:0012739 Agenesis of the small intestine Phenotypic_abnormality 7 HP:0012748 HP:0012748 Focal T2 hyperintense brainstem lesion Phenotypic_abnormality 7 HP:0012749 HP:0012749 Focal T2 hypointense brainstem lesion Phenotypic_abnormality 7 HP:0012750 HP:0012750 T2 hypointense brainstem Phenotypic_abnormality 7 HP:0012770 HP:0012770 Reduced arm span Phenotypic_abnormality 7 HP:0012771 HP:0012771 Increased arm span Phenotypic_abnormality 7 HP:0012775 HP:0012775 Stellate iris Phenotypic_abnormality 7 HP:0012782 HP:0012782 Perilobar nephrogenic rest Phenotypic_abnormality 7 HP:0012783 HP:0012783 Intralobar nephrogenic rest Phenotypic_abnormality 7 HP:0012784 HP:0012784 Perinephritis Phenotypic_abnormality 7 HP:0012795 HP:0012795 Abnormality of the optic disc Phenotypic_abnormality 7 HP:0012799 HP:0012799 Unilateral facial palsy Phenotypic_abnormality 7 HP:0012801 HP:0012801 Narrow jaw Phenotypic_abnormality 7 HP:0012802 HP:0012802 Broad jaw Phenotypic_abnormality 7 HP:0012804 HP:0012804 Corneal ulceration Phenotypic_abnormality 7 HP:0012805 HP:0012805 Iris transillumination defect Phenotypic_abnormality 7 HP:0012807 HP:0012807 High insertion of columella Phenotypic_abnormality 7 HP:0012811 HP:0012811 Wide nasal ridge Phenotypic_abnormality 7 HP:0012816 HP:0012816 Right ventricular noncompaction cardiomyopathy Phenotypic_abnormality 7 HP:0012818 HP:0012818 Biventricular noncompaction cardiomyopathy Phenotypic_abnormality 7 HP:0012820 HP:0012820 Biilateral vocal cord paralysis Phenotypic_abnormality 7 HP:0012821 HP:0012821 Unilateral vocal cord paresis Phenotypic_abnormality 7 HP:0012822 HP:0012822 Bilateral vocal cord paresis Phenotypic_abnormality 7 HP:0100009 HP:0100009 Intracranial meningioma Phenotypic_abnormality 7 HP:0100010 HP:0100010 Spinal meningioma Phenotypic_abnormality 7 HP:0100017 HP:0100017 Capsular cataract Phenotypic_abnormality 7 HP:0100235 HP:0100235 Synostosis involving bones of the toes Phenotypic_abnormality 7 HP:0100258 HP:0100258 Preaxial polydactyly Phenotypic_abnormality 7 HP:0100259 HP:0100259 Postaxial polydactyly Phenotypic_abnormality 7 HP:0100260 HP:0100260 Mesoaxial polydactyly Phenotypic_abnormality 7 HP:0100263 HP:0100263 Distal symphalangism Phenotypic_abnormality 7 HP:0100264 HP:0100264 Proximal symphalangism Phenotypic_abnormality 7 HP:0100268 HP:0100268 Upper lip pit Phenotypic_abnormality 7 HP:0100269 HP:0100269 Paramedian lip pit Phenotypic_abnormality 7 HP:0100270 HP:0100270 Abnormality of dorsoventral patterning of the limbs Phenotypic_abnormality 7 HP:0100309 HP:0100309 Subdural hemorrhage Phenotypic_abnormality 7 HP:0100310 HP:0100310 Epidural hemorrhage Phenotypic_abnormality 7 HP:0100313 HP:0100313 Cerebral granulomatosis Phenotypic_abnormality 7 HP:0100314 HP:0100314 Cerebral inclusion bodies Phenotypic_abnormality 7 HP:0100360 HP:0100360 Contractures of the joints of the upper limbs Phenotypic_abnormality 7 HP:0100490 HP:0100490 Camptodactyly of finger Phenotypic_abnormality 7 HP:0100557 HP:0100557 Hemiatrophy of lower limb Phenotypic_abnormality 7 HP:0100575 HP:0100575 Neoplasm of the gallbladder Phenotypic_abnormality 7 HP:0100580 HP:0100580 Barrett esophagus Phenotypic_abnormality 7 HP:0100581 HP:0100581 Megacalicosis Phenotypic_abnormality 7 HP:0100586 HP:0100586 Aseptic leukocyturia Phenotypic_abnormality 7 HP:0100587 HP:0100587 Abnormality of the preputium Phenotypic_abnormality 7 HP:0100599 HP:0100599 Diphallia Phenotypic_abnormality 7 HP:0100600 HP:0100600 Penoscrotal transposition Phenotypic_abnormality 7 HP:0100607 HP:0100607 Dysmenorrhea Phenotypic_abnormality 7 HP:0100608 HP:0100608 Metrorrhagia Phenotypic_abnormality 7 HP:0100609 HP:0100609 Hypermenorrhea Phenotypic_abnormality 7 HP:0100612 HP:0100612 Odontogenic neoplasm Phenotypic_abnormality 7 HP:0100620 HP:0100620 Germinoma Phenotypic_abnormality 7 HP:0100623 HP:0100623 Abnormality of corpus cavernosum Phenotypic_abnormality 7 HP:0100627 HP:0100627 Displacement of the external urethral meatus Phenotypic_abnormality 7 HP:0100637 HP:0100637 Neoplasia of the nose Phenotypic_abnormality 7 HP:0100638 HP:0100638 Neoplasia of the pharynx Phenotypic_abnormality 7 HP:0100639 HP:0100639 Erectile abnormalities Phenotypic_abnormality 7 HP:0100648 HP:0100648 Neoplasm of the tongue Phenotypic_abnormality 7 HP:0100653 HP:0100653 Optic neuritis Phenotypic_abnormality 7 HP:0100669 HP:0100669 Abnormal pigmentation of the oral mucosa Phenotypic_abnormality 7 HP:0100682 HP:0100682 Tracheal atresia Phenotypic_abnormality 7 HP:0100684 HP:0100684 Salivary gland neoplasm Phenotypic_abnormality 7 HP:0100689 HP:0100689 Decreased corneal thickness Phenotypic_abnormality 7 HP:0100692 HP:0100692 Increased corneal curvature Phenotypic_abnormality 7 HP:0100718 HP:0100718 Uterine rupture Phenotypic_abnormality 7 HP:0100736 HP:0100736 Abnormality of the soft palate Phenotypic_abnormality 7 HP:0100737 HP:0100737 Abnormality of the hard palate Phenotypic_abnormality 7 HP:0100746 HP:0100746 Macrodactyly of finger Phenotypic_abnormality 7 HP:0100747 HP:0100747 Macrodactyly of toe Phenotypic_abnormality 7 HP:0100759 HP:0100759 Clubbing of fingers Phenotypic_abnormality 7 HP:0100760 HP:0100760 Clubbing of toes Phenotypic_abnormality 7 HP:0100762 HP:0100762 Hemobilia Phenotypic_abnormality 7 HP:0100776 HP:0100776 Recurrent pharyngitis Phenotypic_abnormality 7 HP:0100779 HP:0100779 Urogenital sinus anomaly Phenotypic_abnormality 7 HP:0100787 HP:0100787 Prostate neoplasm Phenotypic_abnormality 7 HP:0100796 HP:0100796 Orchitis Phenotypic_abnormality 7 HP:0100801 HP:0100801 Pancreatic aplasia Phenotypic_abnormality 7 HP:0100811 HP:0100811 Aplasia/Hypoplasia of the colon Phenotypic_abnormality 7 HP:0100813 HP:0100813 Testicular torsion Phenotypic_abnormality 7 HP:0100818 HP:0100818 Long thorax Phenotypic_abnormality 7 HP:0100821 HP:0100821 Urethrocele Phenotypic_abnormality 7 HP:0100849 HP:0100849 Neoplasia of the scrotum Phenotypic_abnormality 7 HP:0100850 HP:0100850 Neoplasia of the penis Phenotypic_abnormality 7 HP:0100857 HP:0100857 Flat sella turcica Phenotypic_abnormality 7 HP:0100869 HP:0100869 Palmar telangiectasia Phenotypic_abnormality 7 HP:0100871 HP:0100871 Abnormality of the palm Phenotypic_abnormality 7 HP:0100877 HP:0100877 Renal diverticulum Phenotypic_abnormality 7 HP:0100878 HP:0100878 Enlarged uterus Phenotypic_abnormality 7 HP:0100879 HP:0100879 Enlarged ovaries Phenotypic_abnormality 7 HP:0100884 HP:0100884 Compensatory scoliosis Phenotypic_abnormality 7 HP:0100885 HP:0100885 Lateral venous anomaly Phenotypic_abnormality 7 HP:0100889 HP:0100889 Abnormality of the ductus choledochus Phenotypic_abnormality 7 HP:0100891 HP:0100891 Bifid xiphoid process Phenotypic_abnormality 7 HP:0100893 HP:0100893 Prominent xiphoid process Phenotypic_abnormality 7 HP:0100894 HP:0100894 Broad xiphoid process Phenotypic_abnormality 7 HP:0100899 HP:0100899 Sclerosis of finger phalanx Phenotypic_abnormality 7 HP:0100924 HP:0100924 Sclerosis of toe phalanx Phenotypic_abnormality 7 HP:0100951 HP:0100951 Enlarged fossa interpeduncularis Phenotypic_abnormality 7 HP:0100952 HP:0100952 Enlarged sylvian cistern Phenotypic_abnormality 7 HP:0100953 HP:0100953 Enlarged interhemispheric fissure Phenotypic_abnormality 7 HP:0100955 HP:0100955 Giant cell granuloma of mandible Phenotypic_abnormality 7 HP:0200005 HP:0200005 Abnormal shape of the palpebral fissure Phenotypic_abnormality 7 HP:0200006 HP:0200006 Slanting of the palpebral fissure Phenotypic_abnormality 7 HP:0200007 HP:0200007 Abnormal size of the palpebral fissures Phenotypic_abnormality 7 HP:0200008 HP:0200008 Intestinal polyposis Phenotypic_abnormality 7 HP:0200018 HP:0200018 Protanomaly Phenotypic_abnormality 7 HP:0200020 HP:0200020 Corneal erosion Phenotypic_abnormality 7 HP:0200023 HP:0200023 Priapism Phenotypic_abnormality 7 HP:0200025 HP:0200025 Mandibular pain Phenotypic_abnormality 7 HP:0200032 HP:0200032 Kayser-Fleischer ring Phenotypic_abnormality 7 HP:0200044 HP:0200044 Porokeratosis Phenotypic_abnormality 7 HP:0200057 HP:0200057 Marcus Gunn pupil Phenotypic_abnormality 7 HP:0200064 HP:0200064 Asymmetry of iris pigmentation Phenotypic_abnormality 7 HP:0200066 HP:0200066 Ribbonlike corneal degeneration Phenotypic_abnormality 7 HP:0200072 HP:0200072 Episodic quadriplegia Phenotypic_abnormality 7 HP:0200096 HP:0200096 Triangular-shaped open mouth Phenotypic_abnormality 7 HP:0200098 HP:0200098 Absent skin pigmentation Phenotypic_abnormality 7 HP:0200102 HP:0200102 Sparse/absent eyelashes Phenotypic_abnormality 7 HP:0200104 HP:0200104 Absent fifth fingernail Phenotypic_abnormality 7 HP:0200105 HP:0200105 Absent fifth toenail Phenotypic_abnormality 7 HP:0200107 HP:0200107 Shortened inner dynein arms Phenotypic_abnormality 7 HP:0200108 HP:0200108 Shortened outer dynein arms Phenotypic_abnormality 7 HP:0200115 HP:0200115 Scalp hair loss Phenotypic_abnormality 7 HP:0200117 HP:0200117 Recurrent upper and lower respiratory tract infections Phenotypic_abnormality 7 HP:0200128 HP:0200128 Biventricular hypertrophy Phenotypic_abnormality 7 HP:0200129 HP:0200129 Calcific mitral stenosis Phenotypic_abnormality 7 HP:0200135 HP:0200135 Macrocephaly due to hydrocephalus Phenotypic_abnormality 7 HP:0200138 HP:0200138 Bilateral choanal atresia/stenosis Phenotypic_abnormality 7 HP:0200144 HP:0200144 Anaphylactoid purpura Phenotypic_abnormality 7 HP:0004275 HP:0004275 Duplication of hand bones Phenotypic_abnormality 7 HP:0004277 HP:0004277 Fractured hand bones Phenotypic_abnormality 7 HP:0004278 HP:0004278 Synostosis involving bones of the hand Phenotypic_abnormality 7 HP:0004281 HP:0004281 Irregular sclerosis of hand bones Phenotypic_abnormality 7 HP:0004381 HP:0004381 Supravalvular aortic stenosis Phenotypic_abnormality 7 HP:0004394 HP:0004394 Multiple gastric polyps Phenotypic_abnormality 7 HP:0004397 HP:0004397 Ectopic anus Phenotypic_abnormality 7 HP:0004399 HP:0004399 Congenital pyloric atresia Phenotypic_abnormality 7 HP:0004403 HP:0004403 Proximal esophageal atresia Phenotypic_abnormality 7 HP:0004407 HP:0004407 Bony paranasal bossing Phenotypic_abnormality 7 HP:0004422 HP:0004422 Biparietal narrowing Phenotypic_abnormality 7 HP:0004423 HP:0004423 Cranium bifidum occultum Phenotypic_abnormality 7 HP:0004438 HP:0004438 Hyperostosis frontalis interna Phenotypic_abnormality 7 HP:0004448 HP:0004448 Fulminant hepatic failure Phenotypic_abnormality 7 HP:0004453 HP:0004453 Overfolding of the superior helices Phenotypic_abnormality 7 HP:0004471 HP:0004471 Aplasia cutis congenita over the scalp vertex Phenotypic_abnormality 7 HP:0004476 HP:0004476 Aplasia cutis congenita over parietal area Phenotypic_abnormality 7 HP:0004481 HP:0004481 Progressive macrocephaly Phenotypic_abnormality 7 HP:0004482 HP:0004482 Relative macrocephaly Phenotypic_abnormality 7 HP:0004488 HP:0004488 Macrocephaly at birth Phenotypic_abnormality 7 HP:0004490 HP:0004490 Calvarial hyperostosis Phenotypic_abnormality 7 HP:0004496 HP:0004496 Posterior choanal atresia Phenotypic_abnormality 7 HP:0004499 HP:0004499 Chronic rhinitis due to narrow nasal airway Phenotypic_abnormality 7 HP:0004502 HP:0004502 Bilateral choanal atresia Phenotypic_abnormality 7 HP:0004510 HP:0004510 Pancreatic islet-cell hypertrophy Phenotypic_abnormality 7 HP:0004529 HP:0004529 Atrophic, patchy alopecia Phenotypic_abnormality 7 HP:0004557 HP:0004557 Anterior vertebral fusion Phenotypic_abnormality 7 HP:0004566 HP:0004566 Pear-shaped vertebrae Phenotypic_abnormality 7 HP:0004568 HP:0004568 Beaking of vertebral bodies Phenotypic_abnormality 7 HP:0004570 HP:0004570 Increased vertebral height Phenotypic_abnormality 7 HP:0004582 HP:0004582 Irregularity of vertebral bodies Phenotypic_abnormality 7 HP:0004586 HP:0004586 Biconcave vertebral bodies Phenotypic_abnormality 7 HP:0004590 HP:0004590 Hypoplastic sacrum Phenotypic_abnormality 7 HP:0004591 HP:0004591 Disc-like vertebral bodies Phenotypic_abnormality 7 HP:0004598 HP:0004598 Supernumerary vertebral ossification centers Phenotypic_abnormality 7 HP:0004599 HP:0004599 Absent or minimally ossified vertebral bodies Phenotypic_abnormality 7 HP:0004609 HP:0004609 Patchy distortion of vertebrae Phenotypic_abnormality 7 HP:0004611 HP:0004611 Anterior concavity of thoracic vertebrae Phenotypic_abnormality 7 HP:0004612 HP:0004612 cervical spine segmentation defects Phenotypic_abnormality 7 HP:0004618 HP:0004618 Sandwich appearance of vertebral bodies Phenotypic_abnormality 7 HP:0004619 HP:0004619 Lumbar kyphoscoliosis Phenotypic_abnormality 7 HP:0004622 HP:0004622 Progressive intervertebral space narrowing Phenotypic_abnormality 7 HP:0004625 HP:0004625 Biconvex vertebral bodies Phenotypic_abnormality 7 HP:0004632 HP:0004632 cervical segmentation defects Phenotypic_abnormality 7 HP:0004634 HP:0004634 Cuboid-shaped vertebral bodies Phenotypic_abnormality 7 HP:0004646 HP:0004646 Hypoplasia of the nasal bone Phenotypic_abnormality 7 HP:0004661 HP:0004661 Frontalis muscle weakness Phenotypic_abnormality 7 HP:0004676 HP:0004676 prominent supraorbital arches in adult Phenotypic_abnormality 7 HP:0004713 HP:0004713 Reversible renal failure Phenotypic_abnormality 7 HP:0004717 HP:0004717 Axial malrotation of the kidney Phenotypic_abnormality 7 HP:0004724 HP:0004724 Calcium nephrolithiasis Phenotypic_abnormality 7 HP:0004727 HP:0004727 Impaired renal concentrating ability Phenotypic_abnormality 7 HP:0004732 HP:0004732 Impaired renal uric acid clearance Phenotypic_abnormality 7 HP:0004749 HP:0004749 Atrial flutter Phenotypic_abnormality 7 HP:0004761 HP:0004761 Post-angioplasty coronary artery restenosis Phenotypic_abnormality 7 HP:0004768 HP:0004768 Sparse anterior scalp hair Phenotypic_abnormality 7 HP:0004785 HP:0004785 Malrotation of colon Phenotypic_abnormality 7 HP:0004789 HP:0004789 Lactose intolerance Phenotypic_abnormality 7 HP:0004790 HP:0004790 Hypoplasia of the small intestine Phenotypic_abnormality 7 HP:0004794 HP:0004794 Malrotation of small bowel Phenotypic_abnormality 7 HP:0004795 HP:0004795 Hamartomatous stomach polyps Phenotypic_abnormality 7 HP:0004797 HP:0004797 Multiple small bowel atresias Phenotypic_abnormality 7 HP:0004812 HP:0004812 Pre-B-cell acute lymphoblastic leukemia Phenotypic_abnormality 7 HP:0004826 HP:0004826 Folate-unresponsive megaloblastic anemia Phenotypic_abnormality 7 HP:0004848 HP:0004848 Ph-positive acute lymphoblastic leukemia Phenotypic_abnormality 7 HP:0004851 HP:0004851 Folate-responsive megaloblastic anemia Phenotypic_abnormality 7 HP:0004860 HP:0004860 Thiamine-responsive megaloblastic anemia Phenotypic_abnormality 7 HP:0004885 HP:0004885 Episodic respiratory distress Phenotypic_abnormality 7 HP:0004914 HP:0004914 Recurrent infantile hypoglycemia Phenotypic_abnormality 7 HP:0004928 HP:0004928 Peripheral arterial stenosis Phenotypic_abnormality 7 HP:0004929 HP:0004929 Coronary atherosclerosis Phenotypic_abnormality 7 HP:0004953 HP:0004953 Abdominal aortic aneurysm Phenotypic_abnormality 7 HP:0004954 HP:0004954 Descending aortic aneurysm Phenotypic_abnormality 7 HP:0004962 HP:0004962 Thoracic aorta calcification Phenotypic_abnormality 7 HP:0004966 HP:0004966 Medial calcification of large arteries Phenotypic_abnormality 7 HP:0004970 HP:0004970 Ascending aortic dilation Phenotypic_abnormality 7 HP:0004975 HP:0004975 Erlenmeyer flask deformity of the femurs Phenotypic_abnormality 7 HP:0005028 HP:0005028 Widened proximal tibial metaphyses Phenotypic_abnormality 7 HP:0005042 HP:0005042 Irregular, rachitic-like metaphyses Phenotypic_abnormality 7 HP:0005092 HP:0005092 Streaky metaphyseal sclerosis Phenotypic_abnormality 7 HP:0005106 HP:0005106 Abnormality of the vertebral endplates Phenotypic_abnormality 7 HP:0005110 HP:0005110 Atrial fibrillation Phenotypic_abnormality 7 HP:0005129 HP:0005129 Congenital hypertrophy of left ventricle Phenotypic_abnormality 7 HP:0005136 HP:0005136 Premature calcification of mitral annulus Phenotypic_abnormality 7 HP:0005145 HP:0005145 Coronary artery stenosis Phenotypic_abnormality 7 HP:0005151 HP:0005151 Preductal coarctation of the aorta Phenotypic_abnormality 7 HP:0005157 HP:0005157 Concentric hypertrophic cardiomyopathy Phenotypic_abnormality 7 HP:0005170 HP:0005170 Complete heart block with broad RS complexes Phenotypic_abnormality 7 HP:0005172 HP:0005172 Left postterior fascicular block Phenotypic_abnormality 7 HP:0005173 HP:0005173 Calcific aortic valve stenosis Phenotypic_abnormality 7 HP:0005178 HP:0005178 Complete heart block with narrow QRS complexes Phenotypic_abnormality 7 HP:0005181 HP:0005181 Premature coronary artery disease Phenotypic_abnormality 7 HP:0005197 HP:0005197 Generalized morning stiffness Phenotypic_abnormality 7 HP:0005198 HP:0005198 Stiff interphalangeal joints Phenotypic_abnormality 7 HP:0005211 HP:0005211 Midgut malrotation Phenotypic_abnormality 7 HP:0005212 HP:0005212 Anal mucosal leukoplakia Phenotypic_abnormality 7 HP:0005216 HP:0005216 Chewing difficulties Phenotypic_abnormality 7 HP:0005223 HP:0005223 Duplicated colon Phenotypic_abnormality 7 HP:0005230 HP:0005230 Biliary tract obstruction Phenotypic_abnormality 7 HP:0005235 HP:0005235 Jejunal atresia Phenotypic_abnormality 7 HP:0005238 HP:0005238 Discrete intestinal polyps Phenotypic_abnormality 7 HP:0005241 HP:0005241 Total intestinal aganglionosis Phenotypic_abnormality 7 HP:0005250 HP:0005250 High intestinal obstruction Phenotypic_abnormality 7 HP:0005253 HP:0005253 Increased anterioposterior diameter of thorax Phenotypic_abnormality 7 HP:0005263 HP:0005263 Gastritis Phenotypic_abnormality 7 HP:0005265 HP:0005265 Abnormality of the jejunum Phenotypic_abnormality 7 HP:0005274 HP:0005274 Prominent nasal tip Phenotypic_abnormality 7 HP:0005275 HP:0005275 Cartilaginous ossification of nose Phenotypic_abnormality 7 HP:0005278 HP:0005278 Hypoplastic nasal tip Phenotypic_abnormality 7 HP:0005296 HP:0005296 Occlusive vascular disease Phenotypic_abnormality 7 HP:0005297 HP:0005297 Premature occlusive vascular disease Phenotypic_abnormality 7 HP:0005299 HP:0005299 Premature peripheral vascular disease Phenotypic_abnormality 7 HP:0005309 HP:0005309 Peripheral vascular insufficiency Phenotypic_abnormality 7 HP:0005315 HP:0005315 Occlusive arterial disease Phenotypic_abnormality 7 HP:0005332 HP:0005332 Recurrent mandibular subluxations Phenotypic_abnormality 7 HP:0005349 HP:0005349 Hypoplasia of the epiglottis Phenotypic_abnormality 7 HP:0005354 HP:0005354 Absent cellular immunity Phenotypic_abnormality 7 HP:0005357 HP:0005357 Defective B cell differentiation Phenotypic_abnormality 7 HP:0005381 HP:0005381 Recurrent meningococcal disease Phenotypic_abnormality 7 HP:0005384 HP:0005384 Defective B cell activation Phenotypic_abnormality 7 HP:0005397 HP:0005397 Exaggerated cellular immune processes Phenotypic_abnormality 7 HP:0005402 HP:0005402 Primary T-lymphocyte immune abnormalities Phenotypic_abnormality 7 HP:0005403 HP:0005403 T lymphocytopenia Phenotypic_abnormality 7 HP:0005419 HP:0005419 Decreased T cell activation Phenotypic_abnormality 7 HP:0005424 HP:0005424 Absent specific antibody response Phenotypic_abnormality 7 HP:0005435 HP:0005435 Impaired T cell function Phenotypic_abnormality 7 HP:0005445 HP:0005445 Widened posterior fossa Phenotypic_abnormality 7 HP:0005446 HP:0005446 Obtuse angle of mandible Phenotypic_abnormality 7 HP:0005449 HP:0005449 Bridged sella turcica Phenotypic_abnormality 7 HP:0005450 HP:0005450 Calvarial osteosclerosis Phenotypic_abnormality 7 HP:0005451 HP:0005451 Decreased cranial base ossification Phenotypic_abnormality 7 HP:0005463 HP:0005463 Elongated sella turcica Phenotypic_abnormality 7 HP:0005466 HP:0005466 Frontal bone hypoplasia Phenotypic_abnormality 7 HP:0005477 HP:0005477 Progressive sclerosis of skull base Phenotypic_abnormality 7 HP:0005490 HP:0005490 Postnatal macrocephaly Phenotypic_abnormality 7 HP:0005494 HP:0005494 Premature posterior fontanelle closure Phenotypic_abnormality 7 HP:0005517 HP:0005517 T-cell lymphoma/leukemia Phenotypic_abnormality 7 HP:0005562 HP:0005562 Multiple renal cysts Phenotypic_abnormality 7 HP:0005563 HP:0005563 Decreased numbers of nephrons Phenotypic_abnormality 7 HP:0005567 HP:0005567 Renal magnesium wasting Phenotypic_abnormality 7 HP:0005571 HP:0005571 Increased renal tubular phosphate reabsorption Phenotypic_abnormality 7 HP:0005572 HP:0005572 Decreased renal tubular phosphate excretion Phenotypic_abnormality 7 HP:0005579 HP:0005579 Impaired reabsorption of chloride Phenotypic_abnormality 7 HP:0005580 HP:0005580 Duplication of renal pelvis Phenotypic_abnormality 7 HP:0005586 HP:0005586 Hyperpigmentation in sun-exposed areas Phenotypic_abnormality 7 HP:0005592 HP:0005592 Giant melanosomes in melanocytes Phenotypic_abnormality 7 HP:0005597 HP:0005597 Congenital alopecia totalis Phenotypic_abnormality 7 HP:0005600 HP:0005600 Congenital giant melanocytic nevus Phenotypic_abnormality 7 HP:0005602 HP:0005602 Progressive vitiligo Phenotypic_abnormality 7 HP:0005603 HP:0005603 Numerous congenital melanocytic nevi Phenotypic_abnormality 7 HP:0005606 HP:0005606 Hyperpigmented nevi and streak Phenotypic_abnormality 7 HP:0005608 HP:0005608 Bilobate gallbladder Phenotypic_abnormality 7 HP:0005609 HP:0005609 Gallbladder dysfunction Phenotypic_abnormality 7 HP:0005613 HP:0005613 Aplasia/hypoplasia of the femur Phenotypic_abnormality 7 HP:0005621 HP:0005621 Trapezoidal shaped vertebral bodies Phenotypic_abnormality 7 HP:0005626 HP:0005626 Posterior fusion of lumbosacral vertebrae Phenotypic_abnormality 7 HP:0005640 HP:0005640 Abnormal vertebral segmentation and fusion Phenotypic_abnormality 7 HP:0005653 HP:0005653 Moderate generalized osteoporosis Phenotypic_abnormality 7 HP:0005656 HP:0005656 Positional foot deformity Phenotypic_abnormality 7 HP:0005665 HP:0005665 Massively thickened long bone cortices Phenotypic_abnormality 7 HP:0005667 HP:0005667 Os odontoideum Phenotypic_abnormality 7 HP:0005678 HP:0005678 Anterior atlanto-occipital dislocation Phenotypic_abnormality 7 HP:0005680 HP:0005680 Tongue-like lumbar vertebral deformities Phenotypic_abnormality 7 HP:0005684 HP:0005684 Distal arthrogryposis Phenotypic_abnormality 7 HP:0005722 HP:0005722 Hyperextensible thumb Phenotypic_abnormality 7 HP:0005723 HP:0005723 Shoe-shaped sella turcica Phenotypic_abnormality 7 HP:0005744 HP:0005744 Generalized osteoporosis with pathologic fractures Phenotypic_abnormality 7 HP:0005745 HP:0005745 Congenital foot contractures Phenotypic_abnormality 7 HP:0005746 HP:0005746 Osteosclerosis of the base of the skull Phenotypic_abnormality 7 HP:0005750 HP:0005750 Contractures of the joints of the lower limbs Phenotypic_abnormality 7 HP:0005758 HP:0005758 Basilar impression Phenotypic_abnormality 7 HP:0005759 HP:0005759 Small flat posterior fossa Phenotypic_abnormality 7 HP:0005772 HP:0005772 Aplasia/Hypoplasia of the tibia Phenotypic_abnormality 7 HP:0005788 HP:0005788 Abnormal cervical myelogram Phenotypic_abnormality 7 HP:0005794 HP:0005794 Arterial disease of legs Phenotypic_abnormality 7 HP:0005820 HP:0005820 Superior rib anomalies Phenotypic_abnormality 7 HP:0005853 HP:0005853 Congenital foot contraction deformities Phenotypic_abnormality 7 HP:0005857 HP:0005857 Cervical spina bifida Phenotypic_abnormality 7 HP:0005871 HP:0005871 Metaphyseal chondrodysplasia Phenotypic_abnormality 7 HP:0005879 HP:0005879 Congenital finger flexion contractures Phenotypic_abnormality 7 HP:0005890 HP:0005890 Hyperostosis cranialis interna Phenotypic_abnormality 7 HP:0005897 HP:0005897 Severe osteoporosis Phenotypic_abnormality 7 HP:0005912 HP:0005912 Biliary atresia Phenotypic_abnormality 7 HP:0005921 HP:0005921 Abnormal ossification of hand bones Phenotypic_abnormality 7 HP:0005922 HP:0005922 Abnormal hand morphology Phenotypic_abnormality 7 HP:0005923 HP:0005923 Abnormalities of the metaphyses of the hand Phenotypic_abnormality 7 HP:0005924 HP:0005924 Abnormality of the epiphyses of the hand Phenotypic_abnormality 7 HP:0005925 HP:0005925 Abnormalities of the diaphyses of the hand Phenotypic_abnormality 7 HP:0005927 HP:0005927 Aplasia/hypoplasia involving bones of the hand Phenotypic_abnormality 7 HP:0005932 HP:0005932 Abnormal renal corticomedullary differentiation Phenotypic_abnormality 7 HP:0006028 HP:0006028 Metaphyseal cupping of metacarpals Phenotypic_abnormality 7 HP:0006101 HP:0006101 Finger syndactyly Phenotypic_abnormality 7 HP:0006107 HP:0006107 Fingerpad telangiectases Phenotypic_abnormality 7 HP:0006135 HP:0006135 Decreased finger mobility Phenotypic_abnormality 7 HP:0006140 HP:0006140 Premature fusion of phalangeal epiphyses Phenotypic_abnormality 7 HP:0006201 HP:0006201 Hypermobility of distal interphalangeal joints Phenotypic_abnormality 7 HP:0006208 HP:0006208 Metaphyseal cupping of proximal phalanges Phenotypic_abnormality 7 HP:0006256 HP:0006256 Abnormality of hand joint mobility Phenotypic_abnormality 7 HP:0006274 HP:0006274 Reduced pancreatic beta cells Phenotypic_abnormality 7 HP:0006279 HP:0006279 Beta-cell dysfunction Phenotypic_abnormality 7 HP:0006292 HP:0006292 Abnormality of dental eruption Phenotypic_abnormality 7 HP:0006308 HP:0006308 Atrophy of alveolar ridges Phenotypic_abnormality 7 HP:0006326 HP:0006326 Buried teeth encased in mucopolysaccharide Phenotypic_abnormality 7 HP:0006329 HP:0006329 Alveolar process hypoplasia Phenotypic_abnormality 7 HP:0006368 HP:0006368 Forearm reduction defects Phenotypic_abnormality 7 HP:0006375 HP:0006375 Dumbbell-shaped femur Phenotypic_abnormality 7 HP:0006378 HP:0006378 Osteolysis of patellae Phenotypic_abnormality 7 HP:0006383 HP:0006383 Progressive bowing of long bones Phenotypic_abnormality 7 HP:0006384 HP:0006384 Club-shaped distal femur Phenotypic_abnormality 7 HP:0006402 HP:0006402 Distal shortening of limbs Phenotypic_abnormality 7 HP:0006406 HP:0006406 Club-shaped proximal femur Phenotypic_abnormality 7 HP:0006408 HP:0006408 Distal tapering femur Phenotypic_abnormality 7 HP:0006415 HP:0006415 Cortically dense long tubular bones Phenotypic_abnormality 7 HP:0006432 HP:0006432 Trapezoidal distal femoral condyles Phenotypic_abnormality 7 HP:0006437 HP:0006437 Disproportionate prominence of the femoral medial condyle Phenotypic_abnormality 7 HP:0006473 HP:0006473 Anterior bowing of long bones Phenotypic_abnormality 7 HP:0006480 HP:0006480 Premature loss of teeth Phenotypic_abnormality 7 HP:0006481 HP:0006481 Abnormality of primary teeth Phenotypic_abnormality 7 HP:0006482 HP:0006482 Abnormality of dental morphology Phenotypic_abnormality 7 HP:0006483 HP:0006483 Abnormal number of teeth Phenotypic_abnormality 7 HP:0006489 HP:0006489 Abnormality of the femoral metaphysis Phenotypic_abnormality 7 HP:0006491 HP:0006491 Abnormality of the tibial metaphysis Phenotypic_abnormality 7 HP:0006492 HP:0006492 Aplasia/Hypoplasia of the fibula Phenotypic_abnormality 7 HP:0006494 HP:0006494 Aplasia/Hypoplasia involving bones of the feet Phenotypic_abnormality 7 HP:0006498 HP:0006498 Aplasia/Hypoplasia of the patella Phenotypic_abnormality 7 HP:0006499 HP:0006499 Abnormality of femoral epiphyses Phenotypic_abnormality 7 HP:0006503 HP:0006503 Aplasia/hypoplasia involving forearm bones Phenotypic_abnormality 7 HP:0006507 HP:0006507 Aplasia/hypoplasia of the humerus Phenotypic_abnormality 7 HP:0006508 HP:0006508 Abnormality of tibial epiphyses Phenotypic_abnormality 7 HP:0006560 HP:0006560 Biliary hyperplasia Phenotypic_abnormality 7 HP:0006566 HP:0006566 Neonatal cholestatic liver disease Phenotypic_abnormality 7 HP:0006575 HP:0006575 Intrahepatic cholestasis with episodic jaundice Phenotypic_abnormality 7 HP:0006579 HP:0006579 Prolonged neonatal jaundice Phenotypic_abnormality 7 HP:0006590 HP:0006590 Premature sternal synostosis Phenotypic_abnormality 7 HP:0006591 HP:0006591 Absent glenoid fossa Phenotypic_abnormality 7 HP:0006593 HP:0006593 Anomalous rib insertion to vertebrae Phenotypic_abnormality 7 HP:0006611 HP:0006611 Decreased number of sternal ossification centers Phenotypic_abnormality 7 HP:0006628 HP:0006628 Absent sternal ossification Phenotypic_abnormality 7 HP:0006633 HP:0006633 Glenoid fossa hypoplasia Phenotypic_abnormality 7 HP:0006638 HP:0006638 Midclavicular aplasia Phenotypic_abnormality 7 HP:0006640 HP:0006640 Multiple rib fractures Phenotypic_abnormality 7 HP:0006641 HP:0006641 Prominent floating ribs Phenotypic_abnormality 7 HP:0006642 HP:0006642 Large sternal ossification centers Phenotypic_abnormality 7 HP:0006643 HP:0006643 Fused sternal ossification centers Phenotypic_abnormality 7 HP:0006655 HP:0006655 Rib segmentation abnormalities Phenotypic_abnormality 7 HP:0006660 HP:0006660 Aplastic clavicles Phenotypic_abnormality 7 HP:0006665 HP:0006665 Coat hanger sign of ribs Phenotypic_abnormality 7 HP:0006671 HP:0006671 Paroxysmal atrial tachycardia Phenotypic_abnormality 7 HP:0006716 HP:0006716 Hereditary nonpolyposis colorectal carcinoma Phenotypic_abnormality 7 HP:0006727 HP:0006727 T-cell acute lymphoblastic leukemias Phenotypic_abnormality 7 HP:0006737 HP:0006737 Extraadrenal pheochromocytoma Phenotypic_abnormality 7 HP:0006740 HP:0006740 Transitional cell carcinoma of the bladder Phenotypic_abnormality 7 HP:0006766 HP:0006766 Papillary renal cell carcinoma Phenotypic_abnormality 7 HP:0006767 HP:0006767 Pituitary prolactin cell adenoma Phenotypic_abnormality 7 HP:0006770 HP:0006770 Clear cell renal cell carcinoma Phenotypic_abnormality 7 HP:0006794 HP:0006794 Loss of ability to walk in first decade Phenotypic_abnormality 7 HP:0006813 HP:0006813 Hemiclonic seizures Phenotypic_abnormality 7 HP:0006851 HP:0006851 Symmetric spinal nerve root neurofibromas Phenotypic_abnormality 7 HP:0006858 HP:0006858 Impaired distal proprioception Phenotypic_abnormality 7 HP:0006863 HP:0006863 Severe expressive language delay Phenotypic_abnormality 7 HP:0006866 HP:0006866 Midline central nervous system lipomas Phenotypic_abnormality 7 HP:0006873 HP:0006873 Symmetrical progressive peripheral demyelination Phenotypic_abnormality 7 HP:0006880 HP:0006880 Cerebellar hemangioblastoma Phenotypic_abnormality 7 HP:0006882 HP:0006882 Severe hydrocephalus Phenotypic_abnormality 7 HP:0006886 HP:0006886 Impaired distal vibration sensation Phenotypic_abnormality 7 HP:0006888 HP:0006888 Meningoencephalocele Phenotypic_abnormality 7 HP:0006904 HP:0006904 Late-onset spinocerebellar degeneration Phenotypic_abnormality 7 HP:0006915 HP:0006915 Inability to walk by childhood/adolescence Phenotypic_abnormality 7 HP:0006918 HP:0006918 Diffuse cerebral sclerosis Phenotypic_abnormality 7 HP:0006937 HP:0006937 Impaired distal tactile sensation Phenotypic_abnormality 7 HP:0006944 HP:0006944 Abolished vibration sense Phenotypic_abnormality 7 HP:0006956 HP:0006956 Dilation of lateral ventricles Phenotypic_abnormality 7 HP:0006957 HP:0006957 Loss of ability to walk Phenotypic_abnormality 7 HP:0006960 HP:0006960 Choroid plexus calcification Phenotypic_abnormality 7 HP:0006984 HP:0006984 Distal sensory loss of all modalities Phenotypic_abnormality 7 HP:0006986 HP:0006986 Upper limb spasticity Phenotypic_abnormality 7 HP:0006992 HP:0006992 Anterior basal encephalocele Phenotypic_abnormality 7 HP:0007016 HP:0007016 Corticospinal tract hypoplasia Phenotypic_abnormality 7 HP:0007027 HP:0007027 Poorly formed metencephalon Phenotypic_abnormality 7 HP:0007035 HP:0007035 Anterior encephalocele Phenotypic_abnormality 7 HP:0007057 HP:0007057 Poor hand-eye coordination Phenotypic_abnormality 7 HP:0007064 HP:0007064 Progressive language deterioration Phenotypic_abnormality 7 HP:0007082 HP:0007082 DIlated third ventricle Phenotypic_abnormality 7 HP:0007083 HP:0007083 Hyperactive patellar reflex Phenotypic_abnormality 7 HP:0007098 HP:0007098 Paroxysmal choreoathetosis Phenotypic_abnormality 7 HP:0007100 HP:0007100 Progressive ventriculomegaly Phenotypic_abnormality 7 HP:0007115 HP:0007115 Orbital encephalocele Phenotypic_abnormality 7 HP:0007117 HP:0007117 Corticospinal tract atrophy Phenotypic_abnormality 7 HP:0007123 HP:0007123 Subcortical dementia Phenotypic_abnormality 7 HP:0007129 HP:0007129 Cerebellar medulloblastoma Phenotypic_abnormality 7 HP:0007165 HP:0007165 Periventricular gray matter heterotopia Phenotypic_abnormality 7 HP:0007232 HP:0007232 Spinocerebellar tract disease in lower limbs Phenotypic_abnormality 7 HP:0007250 HP:0007250 Recurrent external ophthalmoplegia Phenotypic_abnormality 7 HP:0007272 HP:0007272 Progressive psychomotor deterioration Phenotypic_abnormality 7 HP:0007286 HP:0007286 Horizontal jerk nystagmus Phenotypic_abnormality 7 HP:0007293 HP:0007293 Anterior sacral meningocele Phenotypic_abnormality 7 HP:0007307 HP:0007307 Rapid neurologic deterioration Phenotypic_abnormality 7 HP:0007326 HP:0007326 Progressive choreoathetosis Phenotypic_abnormality 7 HP:0007328 HP:0007328 Impaired pain sensation Phenotypic_abnormality 7 HP:0007330 HP:0007330 Frontal encephalocele Phenotypic_abnormality 7 HP:0007332 HP:0007332 Hemifacial seizures Phenotypic_abnormality 7 HP:0007343 HP:0007343 Limbic malformations Phenotypic_abnormality 7 HP:0007375 HP:0007375 Abnormality of the septum pellucidum Phenotypic_abnormality 7 HP:0007380 HP:0007380 Facial telangiectasia Phenotypic_abnormality 7 HP:0007381 HP:0007381 Congenital exfoliative erythroderma Phenotypic_abnormality 7 HP:0007384 HP:0007384 Aberrant melanosome maturation Phenotypic_abnormality 7 HP:0007400 HP:0007400 Irregular hyperpigmentation Phenotypic_abnormality 7 HP:0007438 HP:0007438 Mottled pigmentation of the trunk and proximal extremities Phenotypic_abnormality 7 HP:0007439 HP:0007439 Generalized keratosis follicularis Phenotypic_abnormality 7 HP:0007440 HP:0007440 Generalized hyperpigmentation Phenotypic_abnormality 7 HP:0007443 HP:0007443 Partial albinism Phenotypic_abnormality 7 HP:0007452 HP:0007452 Midface capillary hemangioma Phenotypic_abnormality 7 HP:0007457 HP:0007457 Prominent veins on trunk Phenotypic_abnormality 7 HP:0007466 HP:0007466 Midfrontal capillary hemangioma Phenotypic_abnormality 7 HP:0007481 HP:0007481 Hyperpigmented nevi Phenotypic_abnormality 7 HP:0007504 HP:0007504 Diffuse slow skin atrophy Phenotypic_abnormality 7 HP:0007505 HP:0007505 Progressive hyperpigmentation Phenotypic_abnormality 7 HP:0007511 HP:0007511 Mottled pigmentation of photoexposed areas Phenotypic_abnormality 7 HP:0007513 HP:0007513 Generalized hypopigmentation Phenotypic_abnormality 7 HP:0007522 HP:0007522 Increased number of skin folds Phenotypic_abnormality 7 HP:0007535 HP:0007535 Hypopigmented streaks Phenotypic_abnormality 7 HP:0007544 HP:0007544 Piebaldism Phenotypic_abnormality 7 HP:0007554 HP:0007554 Confetti hypopigmentation pattern of lower leg skin Phenotypic_abnormality 7 HP:0007561 HP:0007561 Telangiectases in sun-exposed and nonexposed skin Phenotypic_abnormality 7 HP:0007573 HP:0007573 Late onset atopic dermatitis Phenotypic_abnormality 7 HP:0007586 HP:0007586 Telangiectases producing 'marbled' skin Phenotypic_abnormality 7 HP:0007596 HP:0007596 Painful subcutaneous lipomas Phenotypic_abnormality 7 HP:0007601 HP:0007601 Midline facial capillary hemangioma Phenotypic_abnormality 7 HP:0007621 HP:0007621 Telangiectasia of extensor surfaces Phenotypic_abnormality 7 HP:0007633 HP:0007633 Bilateral microphthalmos Phenotypic_abnormality 7 HP:0007651 HP:0007651 Ectropion of lower eyelids Phenotypic_abnormality 7 HP:0007654 HP:0007654 Retinal striation Phenotypic_abnormality 7 HP:0007655 HP:0007655 Eversion of lateral third of lower eyelids Phenotypic_abnormality 7 HP:0007665 HP:0007665 Curly eyelashes Phenotypic_abnormality 7 HP:0007676 HP:0007676 Hypoplasia of the iris Phenotypic_abnormality 7 HP:0007680 HP:0007680 Depigmented fundus Phenotypic_abnormality 7 HP:0007686 HP:0007686 Abnormal pupillary function Phenotypic_abnormality 7 HP:0007691 HP:0007691 Short curly eyelashes Phenotypic_abnormality 7 HP:0007697 HP:0007697 Hypoplasia of the lower eyelids Phenotypic_abnormality 7 HP:0007707 HP:0007707 Congenital primary aphakia Phenotypic_abnormality 7 HP:0007709 HP:0007709 Band-shaped corneal dystrophy Phenotypic_abnormality 7 HP:0007712 HP:0007712 Choroidal dystrophy Phenotypic_abnormality 7 HP:0007720 HP:0007720 Flat cornea Phenotypic_abnormality 7 HP:0007727 HP:0007727 Opacification of the corneal epithelium Phenotypic_abnormality 7 HP:0007730 HP:0007730 Iris hypopigmentation Phenotypic_abnormality 7 HP:0007744 HP:0007744 Iridoretinal coloboma Phenotypic_abnormality 7 HP:0007747 HP:0007747 Monocular horizontal nystagmus Phenotypic_abnormality 7 HP:0007748 HP:0007748 Irido-fundal coloboma Phenotypic_abnormality 7 HP:0007756 HP:0007756 Slitlike anterior chamber angles in children Phenotypic_abnormality 7 HP:0007759 HP:0007759 Opacification of the corneal stroma Phenotypic_abnormality 7 HP:0007802 HP:0007802 Granular corneal dystrophy Phenotypic_abnormality 7 HP:0007809 HP:0007809 Punctate corneal dystrophy Phenotypic_abnormality 7 HP:0007811 HP:0007811 Horizontal pendular nystagmus Phenotypic_abnormality 7 HP:0007819 HP:0007819 Presenile cataracts Phenotypic_abnormality 7 HP:0007831 HP:0007831 Nonprogressive restrictive external ophthalmoplegia Phenotypic_abnormality 7 HP:0007834 HP:0007834 Progressive cataract Phenotypic_abnormality 7 HP:0007836 HP:0007836 Mosaic corneal dystrophy Phenotypic_abnormality 7 HP:0007859 HP:0007859 Congenital horizontal nystagmus Phenotypic_abnormality 7 HP:0007863 HP:0007863 Retinal lesions Phenotypic_abnormality 7 HP:0007866 HP:0007866 Focal retinal infarction Phenotypic_abnormality 7 HP:0007869 HP:0007869 Peripheral retinopathy Phenotypic_abnormality 7 HP:0007873 HP:0007873 Abnormally prominent line of Schwalbe Phenotypic_abnormality 7 HP:0007880 HP:0007880 Marginal corneal dystrophy Phenotypic_abnormality 7 HP:0007901 HP:0007901 Retinal malformation Phenotypic_abnormality 7 HP:0007922 HP:0007922 Hypermyelinated retinal fibers Phenotypic_abnormality 7 HP:0007924 HP:0007924 Slow decrease in visual acuity Phenotypic_abnormality 7 HP:0007930 HP:0007930 Prominent epicanthal folds Phenotypic_abnormality 7 HP:0007933 HP:0007933 Broad lateral eyebrow Phenotypic_abnormality 7 HP:0007936 HP:0007936 Restrictive external ophthalmoplegia Phenotypic_abnormality 7 HP:0007939 HP:0007939 Blue cone monochromacy Phenotypic_abnormality 7 HP:0007943 HP:0007943 Congenital stapes ankylosis Phenotypic_abnormality 7 HP:0007945 HP:0007945 Choroidal degeneration Phenotypic_abnormality 7 HP:0007962 HP:0007962 Speckled corneal dystrophy Phenotypic_abnormality 7 HP:0007964 HP:0007964 Degenerative vitreoretinopathy Phenotypic_abnormality 7 HP:0007973 HP:0007973 Retinal dysplasia Phenotypic_abnormality 7 HP:0007979 HP:0007979 Gaze-evoked horizontal nystagmus Phenotypic_abnormality 7 HP:0008005 HP:0008005 Congenital corneal dystrophy Phenotypic_abnormality 7 HP:0008008 HP:0008008 Progressive central visual loss Phenotypic_abnormality 7 HP:0008026 HP:0008026 Horizontal opticokinetic nystagmus Phenotypic_abnormality 7 HP:0008033 HP:0008033 Congenital exotropia Phenotypic_abnormality 7 HP:0008051 HP:0008051 Abnormality of the retinal pigment epithelium Phenotypic_abnormality 7 HP:0008052 HP:0008052 Abnormal retinal folds Phenotypic_abnormality 7 HP:0008058 HP:0008058 Aplasia/Hypoplasia of the optic nerve Phenotypic_abnormality 7 HP:0008061 HP:0008061 Aplasia/Hypoplasia affecting the retina Phenotypic_abnormality 7 HP:0008064 HP:0008064 Ichthyosis Phenotypic_abnormality 7 HP:0008081 HP:0008081 Valgus foot deformity Phenotypic_abnormality 7 HP:0008082 HP:0008082 Medial deviation of the foot Phenotypic_abnormality 7 HP:0008110 HP:0008110 Equinovarus deformity Phenotypic_abnormality 7 HP:0008132 HP:0008132 Medial rotation of the medial malleolus Phenotypic_abnormality 7 HP:0008181 HP:0008181 Abetalipoproteinemia Phenotypic_abnormality 7 HP:0008209 HP:0008209 Premature ovarian failure Phenotypic_abnormality 7 HP:0008232 HP:0008232 Elevated follicle stimulating hormone Phenotypic_abnormality 7 HP:0008240 HP:0008240 Secondary growth hormone deficiency Phenotypic_abnormality 7 HP:0008250 HP:0008250 Infantile hypercalcemia Phenotypic_abnormality 7 HP:0008255 HP:0008255 Transient neonatal diabetes mellitus Phenotypic_abnormality 7 HP:0008272 HP:0008272 Renal tubular lysine transport defect Phenotypic_abnormality 7 HP:0008273 HP:0008273 Transient aminoaciduria Phenotypic_abnormality 7 HP:0008288 HP:0008288 Nonketotic hyperglycinemia Phenotypic_abnormality 7 HP:0008290 HP:0008290 Partial complement factor H deficiency Phenotypic_abnormality 7 HP:0008291 HP:0008291 Pituitary corticotropic cell adenoma Phenotypic_abnormality 7 HP:0008301 HP:0008301 Dermatan sulfate excretion in urine Phenotypic_abnormality 7 HP:0008303 HP:0008303 Olivary degeneration Phenotypic_abnormality 7 HP:0008314 HP:0008314 Decreased activity of mitochondrial complex II Phenotypic_abnormality 7 HP:0008315 HP:0008315 Decreased plasma free carnitine Phenotypic_abnormality 7 HP:0008327 HP:0008327 Microscopic nephrocalcinosis Phenotypic_abnormality 7 HP:0008335 HP:0008335 Renal aminoaciduria Phenotypic_abnormality 7 HP:0008336 HP:0008336 Complex organic aciduria Phenotypic_abnormality 7 HP:0008339 HP:0008339 Diaminoaciduria Phenotypic_abnormality 7 HP:0008347 HP:0008347 Decreased activity of mitochondrial complex IV Phenotypic_abnormality 7 HP:0008353 HP:0008353 Neutral hyperaminoaciduria Phenotypic_abnormality 7 HP:0008366 HP:0008366 Contractures involving the joints of the feet Phenotypic_abnormality 7 HP:0008368 HP:0008368 Tarsal synostosis Phenotypic_abnormality 7 HP:0008398 HP:0008398 Hypoplastic fifth fingernail Phenotypic_abnormality 7 HP:0008414 HP:0008414 Lumbar kyphosis in infancy Phenotypic_abnormality 7 HP:0008416 HP:0008416 Six lumbar vertebrae Phenotypic_abnormality 7 HP:0008417 HP:0008417 Vertebral hypoplasia Phenotypic_abnormality 7 HP:0008422 HP:0008422 Vertebral wedging Phenotypic_abnormality 7 HP:0008428 HP:0008428 Vertebral clefting Phenotypic_abnormality 7 HP:0008434 HP:0008434 Hypoplastic cervical vertebrae Phenotypic_abnormality 7 HP:0008436 HP:0008436 Absent/hypoplastic coccyx Phenotypic_abnormality 7 HP:0008437 HP:0008437 Bifid thoracic vertebrae Phenotypic_abnormality 7 HP:0008438 HP:0008438 Vertebral arch anomaly Phenotypic_abnormality 7 HP:0008456 HP:0008456 C2-C3 subluxation Phenotypic_abnormality 7 HP:0008458 HP:0008458 Progressive congenital scoliosis Phenotypic_abnormality 7 HP:0008459 HP:0008459 Cervical vertebral agenesis Phenotypic_abnormality 7 HP:0008461 HP:0008461 Cervical vertebral facet hypoplasia Phenotypic_abnormality 7 HP:0008465 HP:0008465 Absent vertebrae Phenotypic_abnormality 7 HP:0008468 HP:0008468 Abnormal sacral segmentation Phenotypic_abnormality 7 HP:0008478 HP:0008478 Scheuermann-like vertebral changes Phenotypic_abnormality 7 HP:0008482 HP:0008482 Asymmetry of spinal facet joints Phenotypic_abnormality 7 HP:0008490 HP:0008490 Sacral segmentation defects Phenotypic_abnormality 7 HP:0008496 HP:0008496 Multiple rows of eyelashes Phenotypic_abnormality 7 HP:0008516 HP:0008516 Abnormality of the vertebral spinous processes Phenotypic_abnormality 7 HP:0008583 HP:0008583 Underfolded superior helices Phenotypic_abnormality 7 HP:0008643 HP:0008643 Nephroblastomatosis Phenotypic_abnormality 7 HP:0008655 HP:0008655 Aplasia/Hypoplasia of the fallopian tube Phenotypic_abnormality 7 HP:0008656 HP:0008656 Incomplete male pseudohermaphroditism Phenotypic_abnormality 7 HP:0008659 HP:0008659 Multiple small medullary renal cysts Phenotypic_abnormality 7 HP:0008665 HP:0008665 Clitoral hypertrophy Phenotypic_abnormality 7 HP:0008666 HP:0008666 Impaired histidine renal tubular absorption Phenotypic_abnormality 7 HP:0008677 HP:0008677 Congenital nephrotic syndrome Phenotypic_abnormality 7 HP:0008684 HP:0008684 Aplasia/hypoplasia of the uterus Phenotypic_abnormality 7 HP:0008687 HP:0008687 Hypoplasia of the prostate Phenotypic_abnormality 7 HP:0008694 HP:0008694 Hypertrophic labia minora Phenotypic_abnormality 7 HP:0008695 HP:0008695 Transient nephrotic syndrome Phenotypic_abnormality 7 HP:0008706 HP:0008706 Distal urethral duplication Phenotypic_abnormality 7 HP:0008707 HP:0008707 Absent scrotum Phenotypic_abnormality 7 HP:0008708 HP:0008708 Partial development of the penile shaft Phenotypic_abnormality 7 HP:0008711 HP:0008711 Benign prostatic hyperplasia Phenotypic_abnormality 7 HP:0008714 HP:0008714 Ureterovesical stenosis Phenotypic_abnormality 7 HP:0008715 HP:0008715 Testicular dysgenesis Phenotypic_abnormality 7 HP:0008717 HP:0008717 Unilateral renal atrophy Phenotypic_abnormality 7 HP:0008718 HP:0008718 Unilateral renal dysplasia Phenotypic_abnormality 7 HP:0008720 HP:0008720 Primary testicular failure Phenotypic_abnormality 7 HP:0008722 HP:0008722 Urethral diverticulum Phenotypic_abnormality 7 HP:0008729 HP:0008729 Absence of labia majora Phenotypic_abnormality 7 HP:0008733 HP:0008733 Dysplastic testes Phenotypic_abnormality 7 HP:0008734 HP:0008734 Decreased testicular size Phenotypic_abnormality 7 HP:0008736 HP:0008736 Hypoplasia of penis Phenotypic_abnormality 7 HP:0008738 HP:0008738 Partially duplicated kidney Phenotypic_abnormality 7 HP:0008742 HP:0008742 Prominent prostate median bar Phenotypic_abnormality 7 HP:0008753 HP:0008753 Aplasia of the epiglottis Phenotypic_abnormality 7 HP:0008755 HP:0008755 Laryngotracheomalacia Phenotypic_abnormality 7 HP:0008757 HP:0008757 Unilateral vocal cord paralysis Phenotypic_abnormality 7 HP:0008796 HP:0008796 Externally rotated hips Phenotypic_abnormality 7 HP:0009019 HP:0009019 Progressive loss of facial adipose tissue Phenotypic_abnormality 7 HP:0009084 HP:0009084 Midline notch of upper alveolar ridge Phenotypic_abnormality 7 HP:0009085 HP:0009085 Alveolar ridge overgrowth Phenotypic_abnormality 7 HP:0009087 HP:0009087 Posteriorly placed tongue Phenotypic_abnormality 7 HP:0009092 HP:0009092 Progressive alveolar ridge hypertropy Phenotypic_abnormality 7 HP:0009105 HP:0009105 Abnormal ossification of the pubic bone Phenotypic_abnormality 7 HP:0009123 HP:0009123 Mixed hypo- and hyperpigmentation of the skin Phenotypic_abnormality 7 HP:0009134 HP:0009134 Osteolysis involving bones of the feet Phenotypic_abnormality 7 HP:0009136 HP:0009136 Duplication involving bones of the feet Phenotypic_abnormality 7 HP:0009140 HP:0009140 Synostosis involving bones of the feet Phenotypic_abnormality 7 HP:0009381 HP:0009381 Short finger Phenotypic_abnormality 7 HP:0009473 HP:0009473 Joint contracture of the hand Phenotypic_abnormality 7 HP:0009484 HP:0009484 Deviation of the hand or of fingers of the hand Phenotypic_abnormality 7 HP:0009554 HP:0009554 Projection of scalp hair onto lateral cheek Phenotypic_abnormality 7 HP:0009589 HP:0009589 Bilateral vestibular Schwannoma Phenotypic_abnormality 7 HP:0009590 HP:0009590 Unilateral vestibular Schwannoma Phenotypic_abnormality 7 HP:0009700 HP:0009700 Synostosis involving bones of the fingers Phenotypic_abnormality 7 HP:0009701 HP:0009701 Metacarpal synostosis Phenotypic_abnormality 7 HP:0009702 HP:0009702 Carpal synostosis Phenotypic_abnormality 7 HP:0009704 HP:0009704 Chronic CSF lymphocytosis Phenotypic_abnormality 7 HP:0009715 HP:0009715 Papillary cystadenoma of the epididymis Phenotypic_abnormality 7 HP:0009717 HP:0009717 Cortical tubers Phenotypic_abnormality 7 HP:0009734 HP:0009734 Optic glioma Phenotypic_abnormality 7 HP:0009742 HP:0009742 Stiff shoulders Phenotypic_abnormality 7 HP:0009747 HP:0009747 Lumbosacral hirsutism Phenotypic_abnormality 7 HP:0009754 HP:0009754 Fibrous syngnathia Phenotypic_abnormality 7 HP:0009765 HP:0009765 Low hanging columella Phenotypic_abnormality 7 HP:0009772 HP:0009772 Patchy sclerosis of finger phalanx Phenotypic_abnormality 7 HP:0009789 HP:0009789 Perianal abscess Phenotypic_abnormality 7 HP:0009811 HP:0009811 Abnormality of the elbow Phenotypic_abnormality 7 HP:0009812 HP:0009812 Amelia involving the upper limbs Phenotypic_abnormality 7 HP:0009813 HP:0009813 Upper limb phocomelia Phenotypic_abnormality 7 HP:0009814 HP:0009814 Upper limb peromelia Phenotypic_abnormality 7 HP:0009816 HP:0009816 Lower limb undergrowth Phenotypic_abnormality 7 HP:0009817 HP:0009817 Aplasia involving bones of the lower limbs Phenotypic_abnormality 7 HP:0009818 HP:0009818 Amelia involving the lower limbs Phenotypic_abnormality 7 HP:0009819 HP:0009819 Lower limb phocomelia Phenotypic_abnormality 7 HP:0009820 HP:0009820 Lower limb peromelia Phenotypic_abnormality 7 HP:0009823 HP:0009823 Aplasia involving bones of the upper limbs Phenotypic_abnormality 7 HP:0009824 HP:0009824 Upper limb undergrowth Phenotypic_abnormality 7 HP:0009915 HP:0009915 Corneal asymmetry Phenotypic_abnormality 7 HP:0009916 HP:0009916 Anisocoria Phenotypic_abnormality 7 HP:0009917 HP:0009917 Persistent pupillary membrane Phenotypic_abnormality 7 HP:0009918 HP:0009918 Ectopia pupillae Phenotypic_abnormality 7 HP:0009927 HP:0009927 Aplasia of the nose Phenotypic_abnormality 7 HP:0009928 HP:0009928 Thick nasal alae Phenotypic_abnormality 7 HP:0009937 HP:0009937 Facial hirsutism Phenotypic_abnormality 7 HP:0009940 HP:0009940 Asymmetry of the mandible Phenotypic_abnormality 7 HP:0010178 HP:0010178 Patchy sclerosis of toe phalanx Phenotypic_abnormality 7 HP:0010219 HP:0010219 Structural foot deformity Phenotypic_abnormality 7 HP:0010280 HP:0010280 Stomatitis Phenotypic_abnormality 7 HP:0010282 HP:0010282 Thin lower lip vermilion Phenotypic_abnormality 7 HP:0010285 HP:0010285 Oral synechia Phenotypic_abnormality 7 HP:0010287 HP:0010287 Abnormality of the submandibular glands Phenotypic_abnormality 7 HP:0010288 HP:0010288 Abnormality of the sublingual glands Phenotypic_abnormality 7 HP:0010289 HP:0010289 Alveolar ridge cleft Phenotypic_abnormality 7 HP:0010291 HP:0010291 Prominent palatine ridges Phenotypic_abnormality 7 HP:0010294 HP:0010294 Palate fistula Phenotypic_abnormality 7 HP:0010295 HP:0010295 Aplasia/Hypoplasia of the tongue Phenotypic_abnormality 7 HP:0010296 HP:0010296 Ankyloglossia Phenotypic_abnormality 7 HP:0010297 HP:0010297 Bifid tongue Phenotypic_abnormality 7 HP:0010298 HP:0010298 Smooth tongue Phenotypic_abnormality 7 HP:0010305 HP:0010305 Absence of the sacrum Phenotypic_abnormality 7 HP:0010308 HP:0010308 Asternia Phenotypic_abnormality 7 HP:0010317 HP:0010317 Scapular aplasia Phenotypic_abnormality 7 HP:0010443 HP:0010443 Bifid femur Phenotypic_abnormality 7 HP:0010447 HP:0010447 Anal fistula Phenotypic_abnormality 7 HP:0010448 HP:0010448 Colonic atresia Phenotypic_abnormality 7 HP:0010462 HP:0010462 Aplasia/Hypoplasia of the ovary Phenotypic_abnormality 7 HP:0010468 HP:0010468 Aplasia/Hypoplasia of the testes Phenotypic_abnormality 7 HP:0010470 HP:0010470 Supernumerary testes Phenotypic_abnormality 7 HP:0010482 HP:0010482 Acromelia of the upper limbs Phenotypic_abnormality 7 HP:0010494 HP:0010494 Acromelia of the lower limbs Phenotypic_abnormality 7 HP:0010507 HP:0010507 Foot asymmetry Phenotypic_abnormality 7 HP:0010533 HP:0010533 Spasmus nutans Phenotypic_abnormality 7 HP:0010540 HP:0010540 Advanced pneumatization of cranial sinuses Phenotypic_abnormality 7 HP:0010545 HP:0010545 Downbeat nystagmus Phenotypic_abnormality 7 HP:0010550 HP:0010550 Paraplegia Phenotypic_abnormality 7 HP:0010558 HP:0010558 Abnormality of the clivus Phenotypic_abnormality 7 HP:0010561 HP:0010561 Undulate ribs Phenotypic_abnormality 7 HP:0010593 HP:0010593 Abnormality of fibular epiphyses Phenotypic_abnormality 7 HP:0010631 HP:0010631 Abnormality of the epiphyses of the feet Phenotypic_abnormality 7 HP:0010632 HP:0010632 Total anosmia Phenotypic_abnormality 7 HP:0010633 HP:0010633 Partial anosmia Phenotypic_abnormality 7 HP:0010634 HP:0010634 Total hyposmia Phenotypic_abnormality 7 HP:0010635 HP:0010635 Partial hyposmia Phenotypic_abnormality 7 HP:0010636 HP:0010636 Schizencephaly Phenotypic_abnormality 7 HP:0010644 HP:0010644 Midnasal stenosis Phenotypic_abnormality 7 HP:0010649 HP:0010649 Flat nasal alae Phenotypic_abnormality 7 HP:0010654 HP:0010654 Aplasia of the falx cerebri Phenotypic_abnormality 7 HP:0010661 HP:0010661 Absence of the third cerebral ventricle Phenotypic_abnormality 7 HP:0010663 HP:0010663 Abnormality of thalamus morphology Phenotypic_abnormality 7 HP:0010669 HP:0010669 Cheekbone underdevelopment Phenotypic_abnormality 7 HP:0010677 HP:0010677 Enuresis nocturna Phenotypic_abnormality 7 HP:0010678 HP:0010678 Enuresis diurna Phenotypic_abnormality 7 HP:0010689 HP:0010689 Mirror image polydactyly Phenotypic_abnormality 7 HP:0010696 HP:0010696 Polar cataract Phenotypic_abnormality 7 HP:0010700 HP:0010700 Total cataract Phenotypic_abnormality 7 HP:0010726 HP:0010726 Prominent corneal nerve fibers Phenotypic_abnormality 7 HP:0010731 HP:0010731 Extension of eyebrows towards upper eyelid Phenotypic_abnormality 7 HP:0010753 HP:0010753 Midline defect of mandible Phenotypic_abnormality 7 HP:0010754 HP:0010754 Abnormality of the temporomandibular joint Phenotypic_abnormality 7 HP:0010755 HP:0010755 Asymmetry of the maxilla Phenotypic_abnormality 7 HP:0010758 HP:0010758 Abnormality of the premaxilla Phenotypic_abnormality 7 HP:0010761 HP:0010761 Broad columella Phenotypic_abnormality 7 HP:0010763 HP:0010763 Low insertion of columella Phenotypic_abnormality 7 HP:0010764 HP:0010764 Short eyelashes Phenotypic_abnormality 7 HP:0010769 HP:0010769 Pilonidal sinus Phenotypic_abnormality 7 HP:0010770 HP:0010770 Pilonidal fistula Phenotypic_abnormality 7 HP:0010771 HP:0010771 Pilonidal abscess Phenotypic_abnormality 7 HP:0010775 HP:0010775 Vascular ring Phenotypic_abnormality 7 HP:0010776 HP:0010776 Tracheobronchmegaly Phenotypic_abnormality 7 HP:0010789 HP:0010789 Abnormality of the Leydig cells Phenotypic_abnormality 7 HP:0010795 HP:0010795 Cerebellar glioma Phenotypic_abnormality 7 HP:0010796 HP:0010796 Brainstem glioma Phenotypic_abnormality 7 HP:0010803 HP:0010803 Everted upper lip vermilion Phenotypic_abnormality 7 HP:0010808 HP:0010808 Protruding tongue Phenotypic_abnormality 7 HP:0010813 HP:0010813 Abnormal number of hair whorls Phenotypic_abnormality 7 HP:0010814 HP:0010814 Abnormal position of hair whorl Phenotypic_abnormality 7 HP:0010817 HP:0010817 Linear nevus sebaceous Phenotypic_abnormality 7 HP:0010828 HP:0010828 Hemifacial spasm Phenotypic_abnormality 7 HP:0010833 HP:0010833 Spontaneous pain sensation Phenotypic_abnormality 7 HP:0010834 HP:0010834 Trophic changes related to pain Phenotypic_abnormality 7 HP:0010841 HP:0010841 Multifocal epileptiform discharges Phenotypic_abnormality 7 HP:0010850 HP:0010850 EEG with spike-wave complexes Phenotypic_abnormality 7 HP:0010851 HP:0010851 EEG with burst suppression Phenotypic_abnormality 7 HP:0010871 HP:0010871 Sensory ataxia Phenotypic_abnormality 7 HP:0010873 HP:0010873 Cervical spinal cord atrophy Phenotypic_abnormality 7 HP:0010896 HP:0010896 Hypersarcosinemia Phenotypic_abnormality 7 HP:0010897 HP:0010897 Hypersarcosinuria Phenotypic_abnormality 7 HP:0010920 HP:0010920 Zonular cataract Phenotypic_abnormality 7 HP:0010922 HP:0010922 Membranous cataract Phenotypic_abnormality 7 HP:0010940 HP:0010940 Aplasia/Hypoplasia of the nasal bone Phenotypic_abnormality 7 HP:0010946 HP:0010946 Dilatation of the renal pelvis Phenotypic_abnormality 7 HP:0010953 HP:0010953 Noncommunicating hydrocephalus Phenotypic_abnormality 7 HP:0010976 HP:0010976 B lymphocytopenia Phenotypic_abnormality 7 HP:0010992 HP:0010992 Stress urinary incontinence Phenotypic_abnormality 7 HP:0010993 HP:0010993 Abnormality of the cerebral subcortex Phenotypic_abnormality 7 HP:0011026 HP:0011026 Aplasia/Hypoplasia of the vagina Phenotypic_abnormality 7 HP:0011040 HP:0011040 Abnormality of the intrahepatic bile duct Phenotypic_abnormality 7 HP:0011061 HP:0011061 Abnormality of dental structure Phenotypic_abnormality 7 HP:0011076 HP:0011076 Abnormality of premolar Phenotypic_abnormality 7 HP:0011077 HP:0011077 Abnormality of molar Phenotypic_abnormality 7 HP:0011078 HP:0011078 Abnormality of canine Phenotypic_abnormality 7 HP:0011099 HP:0011099 Spastic hemiplegia Phenotypic_abnormality 7 HP:0011102 HP:0011102 Ileal atresia Phenotypic_abnormality 7 HP:0011108 HP:0011108 Recurrent sinusitis Phenotypic_abnormality 7 HP:0011120 HP:0011120 Concave nasal ridge Phenotypic_abnormality 7 HP:0011126 HP:0011126 Nephroptosis Phenotypic_abnormality 7 HP:0011127 HP:0011127 Perioral eczema Phenotypic_abnormality 7 HP:0011131 HP:0011131 Perianal rash Phenotypic_abnormality 7 HP:0011141 HP:0011141 Age-related cataract Phenotypic_abnormality 7 HP:0011149 HP:0011149 Absence seizures with eyelid myoclonia Phenotypic_abnormality 7 HP:0011150 HP:0011150 Myoclonic absences Phenotypic_abnormality 7 HP:0011152 HP:0011152 Early onset absence seizures Phenotypic_abnormality 7 HP:0011168 HP:0011168 Eyelid myoclonias Phenotypic_abnormality 7 HP:0011175 HP:0011175 Versive seizures Phenotypic_abnormality 7 HP:0011180 HP:0011180 Partial beta-EEG Phenotypic_abnormality 7 HP:0011183 HP:0011183 EEG with hyperventilation-induced focal epileptiform discharges Phenotypic_abnormality 7 HP:0011184 HP:0011184 EEG with hyperventilation-induced generalized epileptiform discharges Phenotypic_abnormality 7 HP:0011186 HP:0011186 Focal epileptiform discharges with limited propagation to contralateral hemisphere Phenotypic_abnormality 7 HP:0011187 HP:0011187 Focal EEG discharges with propagation to ipsilateral hemisphere Phenotypic_abnormality 7 HP:0011188 HP:0011188 Focal EEG discharges with secondary generalization Phenotypic_abnormality 7 HP:0011192 HP:0011192 Polymorphic focal epileptiform discharges Phenotypic_abnormality 7 HP:0011193 HP:0011193 EEG with focal spikes Phenotypic_abnormality 7 HP:0011195 HP:0011195 EEG with focal sharp slow waves Phenotypic_abnormality 7 HP:0011196 HP:0011196 EEG with focal sharp waves Phenotypic_abnormality 7 HP:0011197 HP:0011197 EEG with focal spike waves Phenotypic_abnormality 7 HP:0011199 HP:0011199 EEG with generalized sharp slow waves Phenotypic_abnormality 7 HP:0011200 HP:0011200 EEG with generalized polymorphic epileptiform discharges Phenotypic_abnormality 7 HP:0011204 HP:0011204 EEG with continuous slow activity Phenotypic_abnormality 7 HP:0011205 HP:0011205 EEG with intermittent slow activity Phenotypic_abnormality 7 HP:0011206 HP:0011206 EEG with generalized slow activity grade 1 Phenotypic_abnormality 7 HP:0011207 HP:0011207 EEG with generalized slow activity grade 2 Phenotypic_abnormality 7 HP:0011208 HP:0011208 EEG with generalized slow activity grade 3 Phenotypic_abnormality 7 HP:0011209 HP:0011209 EEG with generalized slow activity grade 4 Phenotypic_abnormality 7 HP:0011210 HP:0011210 EEG with occipital slowing Phenotypic_abnormality 7 HP:0011215 HP:0011215 Hemihypsarrhythmia Phenotypic_abnormality 7 HP:0011217 HP:0011217 Abnormal shape of the occiput Phenotypic_abnormality 7 HP:0011218 HP:0011218 Abnormal shape of the frontal region Phenotypic_abnormality 7 HP:0011224 HP:0011224 Ablepharon Phenotypic_abnormality 7 HP:0011231 HP:0011231 Prominent eyelashes Phenotypic_abnormality 7 HP:0011328 HP:0011328 Abnormality of fontanelles Phenotypic_abnormality 7 HP:0011329 HP:0011329 Abnormality of cranial sutures Phenotypic_abnormality 7 HP:0011339 HP:0011339 Abnormality of upper lip vermillion Phenotypic_abnormality 7 HP:0011341 HP:0011341 Long upper lip Phenotypic_abnormality 7 HP:0011345 HP:0011345 Moderate expressive language delay Phenotypic_abnormality 7 HP:0011346 HP:0011346 Mild expressive language delay Phenotypic_abnormality 7 HP:0011350 HP:0011350 Mild receptive language delay Phenotypic_abnormality 7 HP:0011351 HP:0011351 Moderate receptive language delay Phenotypic_abnormality 7 HP:0011352 HP:0011352 Severe receptive language delay Phenotypic_abnormality 7 HP:0011364 HP:0011364 White hair Phenotypic_abnormality 7 HP:0011370 HP:0011370 Recurrent cutaneous fungal infections Phenotypic_abnormality 7 HP:0011371 HP:0011371 Recurrent viral skin infections Phenotypic_abnormality 7 HP:0011374 HP:0011374 Incomplete partition of the cochlea type I Phenotypic_abnormality 7 HP:0011457 HP:0011457 Loss of eyelashes Phenotypic_abnormality 7 HP:0011459 HP:0011459 Esophageal carcinoma Phenotypic_abnormality 7 HP:0011464 HP:0011464 Aganglionosis of the small intestine Phenotypic_abnormality 7 HP:0011466 HP:0011466 Aplasia/Hypoplasia of the gallbladder Phenotypic_abnormality 7 HP:0011472 HP:0011472 Abnormality of small intestinal villus morphology Phenotypic_abnormality 7 HP:0011477 HP:0011477 Upbeat nystagmus Phenotypic_abnormality 7 HP:0011478 HP:0011478 True anophthalmia Phenotypic_abnormality 7 HP:0011480 HP:0011480 Unilateral microphthalmos Phenotypic_abnormality 7 HP:0011483 HP:0011483 Anterior synechiae of the anterior chamber Phenotypic_abnormality 7 HP:0011484 HP:0011484 Posterior synechiae of the anterior chamber Phenotypic_abnormality 7 HP:0011487 HP:0011487 Increased corneal thickness Phenotypic_abnormality 7 HP:0011489 HP:0011489 Abnormal migration of corneal endothelium Phenotypic_abnormality 7 HP:0011490 HP:0011490 Abnormality of Descemet's membrane Phenotypic_abnormality 7 HP:0011491 HP:0011491 Reduced number of corneal endothelial cells Phenotypic_abnormality 7 HP:0011497 HP:0011497 Iris neovascularization Phenotypic_abnormality 7 HP:0011500 HP:0011500 Polycoria Phenotypic_abnormality 7 HP:0011520 HP:0011520 Deuteranomoly Phenotypic_abnormality 7 HP:0011521 HP:0011521 Deuteranopia Phenotypic_abnormality 7 HP:0011522 HP:0011522 Protanopia Phenotypic_abnormality 7 HP:0011527 HP:0011527 Lentiglobus Phenotypic_abnormality 7 HP:0011549 HP:0011549 Univentricular heart with absent left sided atrioventricular connection Phenotypic_abnormality 7 HP:0011550 HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atriove Phenotypic_abnormality 7 HP:0011551 HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection Phenotypic_abnormality 7 HP:0011567 HP:0011567 Sinus venosus atrial septal defect Phenotypic_abnormality 7 HP:0011569 HP:0011569 Cleft anterior mitral valve leaflet Phenotypic_abnormality 7 HP:0011570 HP:0011570 Congenital mitral stenosis Phenotypic_abnormality 7 HP:0011571 HP:0011571 Parachute mitral valve Phenotypic_abnormality 7 HP:0011572 HP:0011572 Supramitral ring Phenotypic_abnormality 7 HP:0011588 HP:0011588 Cervical aortic arch Phenotypic_abnormality 7 HP:0011589 HP:0011589 Common origin of the right brachiocephalic artery and left common carotid artery Phenotypic_abnormality 7 HP:0011590 HP:0011590 Double aortic arch Phenotypic_abnormality 7 HP:0011591 HP:0011591 Left aortic arch with cervical origin of the right subclavian artery Phenotypic_abnormality 7 HP:0011592 HP:0011592 Left aortic arch with isolated subclavian artery Phenotypic_abnormality 7 HP:0011593 HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell Phenotypic_abnormality 7 HP:0011595 HP:0011595 Left aortic arch with retroesophageal right subclavian artery Phenotypic_abnormality 7 HP:0011596 HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus Phenotypic_abnormality 7 HP:0011606 HP:0011606 Transposition of the great arteries with intact ventricular septum Phenotypic_abnormality 7 HP:0011607 HP:0011607 Transposition of the great arteries with ventricular septal defect Phenotypic_abnormality 7 HP:0011612 HP:0011612 Interrupted aortic arch type A Phenotypic_abnormality 7 HP:0011613 HP:0011613 Interrupted aortic arch type B Phenotypic_abnormality 7 HP:0011614 HP:0011614 Interrupted aortic arch type C Phenotypic_abnormality 7 HP:0011621 HP:0011621 Gerbode ventricular septal defect Phenotypic_abnormality 7 HP:0011622 HP:0011622 Inlet ventricular septal defect Phenotypic_abnormality 7 HP:0011623 HP:0011623 Muscular ventricular septal defect Phenotypic_abnormality 7 HP:0011626 HP:0011626 Scimitar anomaly Phenotypic_abnormality 7 HP:0011638 HP:0011638 Anomalous origin of left coronary artery from the pulmonary artery Phenotypic_abnormality 7 HP:0011639 HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery Phenotypic_abnormality 7 HP:0011646 HP:0011646 Juxtaductal coarctation of the aorta Phenotypic_abnormality 7 HP:0011647 HP:0011647 Postductal coarctation of the aorta Phenotypic_abnormality 7 HP:0011664 HP:0011664 Left ventricular noncompaction cardiomyopathy Phenotypic_abnormality 7 HP:0011678 HP:0011678 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries Phenotypic_abnormality 7 HP:0011681 HP:0011681 Subarterial ventricular septal defect Phenotypic_abnormality 7 HP:0011682 HP:0011682 Perimembranous ventricular septal defect Phenotypic_abnormality 7 HP:0011683 HP:0011683 Restrictive ventricular septal defect Phenotypic_abnormality 7 HP:0011684 HP:0011684 Non-restrictive ventricular septal defect Phenotypic_abnormality 7 HP:0011689 HP:0011689 Supraventricular tachycardia with a concealed accessory connection Phenotypic_abnormality 7 HP:0011694 HP:0011694 Supraventricular tachycardia with a manifest accessory pathway Phenotypic_abnormality 7 HP:0011695 HP:0011695 Cerebellar hemorrhage Phenotypic_abnormality 7 HP:0011699 HP:0011699 Atrial reentry tachycardia Phenotypic_abnormality 7 HP:0011700 HP:0011700 Automatic atrial tachycardia Phenotypic_abnormality 7 HP:0011701 HP:0011701 Multifocal atrial tachycardia Phenotypic_abnormality 7 HP:0011707 HP:0011707 Mobitz I atrioventricular block Phenotypic_abnormality 7 HP:0011708 HP:0011708 Mobitz II atrioventricular block Phenotypic_abnormality 7 HP:0011711 HP:0011711 Left anterior fascicular block Phenotypic_abnormality 7 HP:0011716 HP:0011716 Junctional ectopic tachycardia Phenotypic_abnormality 7 HP:0011717 HP:0011717 AV nodal reentry tachycardia Phenotypic_abnormality 7 HP:0011719 HP:0011719 Supracardiac total anomalous pulmonary venous connection Phenotypic_abnormality 7 HP:0011720 HP:0011720 Cardiac total anomalous pulmonary venous connection Phenotypic_abnormality 7 HP:0011721 HP:0011721 Infracardiac total anomalous pulmonary venous connection Phenotypic_abnormality 7 HP:0011722 HP:0011722 Mixed total anomalous pulmonary venous connection Phenotypic_abnormality 7 HP:0011725 HP:0011725 Chaotic multifocal atrial tachycardia Phenotypic_abnormality 7 HP:0011739 HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism Phenotypic_abnormality 7 HP:0011740 HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism Phenotypic_abnormality 7 HP:0011745 HP:0011745 Non-secretory adrenocortical adenoma Phenotypic_abnormality 7 HP:0011746 HP:0011746 Secretory adrenocortical adenoma Phenotypic_abnormality 7 HP:0011758 HP:0011758 Pituitary acidophilic stem cell adenoma Phenotypic_abnormality 7 HP:0011759 HP:0011759 Pituitary gonadotropic cell adenoma Phenotypic_abnormality 7 HP:0011760 HP:0011760 Pituitary growth hormone cell adenoma Phenotypic_abnormality 7 HP:0011761 HP:0011761 Pituitary null cell adenoma Phenotypic_abnormality 7 HP:0011762 HP:0011762 Pituitary thyrotropic cell adenoma Phenotypic_abnormality 7 HP:0011775 HP:0011775 Thyroid macrofollicular adenoma Phenotypic_abnormality 7 HP:0011776 HP:0011776 Thyroid microfollicular adenoma Phenotypic_abnormality 7 HP:0011803 HP:0011803 Bifid nose Phenotypic_abnormality 7 HP:0011816 HP:0011816 Parietal encephalocele Phenotypic_abnormality 7 HP:0011817 HP:0011817 Basal encephalocele Phenotypic_abnormality 7 HP:0011820 HP:0011820 Membranous choanal atresia Phenotypic_abnormality 7 HP:0011831 HP:0011831 Deviated nasal tip Phenotypic_abnormality 7 HP:0011832 HP:0011832 Narrow nasal tip Phenotypic_abnormality 7 HP:0011833 HP:0011833 Overhanging nasal tip Phenotypic_abnormality 7 HP:0011860 HP:0011860 Metaphyseal dappling Phenotypic_abnormality 7 HP:0011923 HP:0011923 Decreased activity of mitochondrial complex I Phenotypic_abnormality 7 HP:0011924 HP:0011924 Decreased activity of mitochondrial complex III Phenotypic_abnormality 7 HP:0011925 HP:0011925 Decreased activity of mitochondrial ATP synthase complex Phenotypic_abnormality 7 HP:0011936 HP:0011936 Decreased plasma total carnitine Phenotypic_abnormality 7 HP:0011937 HP:0011937 Hypoplastic fifth toenail Phenotypic_abnormality 7 HP:0011952 HP:0011952 Acute aspiration pneumonia Phenotypic_abnormality 7 HP:0011958 HP:0011958 Retinal perforation Phenotypic_abnormality 7 HP:0011961 HP:0011961 Non-obstructive azoospermia Phenotypic_abnormality 7 HP:0011962 HP:0011962 Obstructive azoospermia Phenotypic_abnormality 7 HP:0011963 HP:0011963 Pretesticular azoospermia Phenotypic_abnormality 7 HP:0011969 HP:0011969 Elevated luteinizing hormone Phenotypic_abnormality 7 HP:0011979 HP:0011979 Elevated urinary dopamine Phenotypic_abnormality 7 HP:0011990 HP:0011990 Abnormality of neutrophil physiology Phenotypic_abnormality 7 HP:0011991 HP:0011991 Abnormal neutrophil cell number Phenotypic_abnormality 7 HP:0011992 HP:0011992 Abnormality of neutrophil morphology Phenotypic_abnormality 7 HP:0012000 HP:0012000 EEG with generalized spikes Phenotypic_abnormality 7 HP:0012001 HP:0012001 EEG with generalized polyspikes Phenotypic_abnormality 7 HP:0012003 HP:0012003 Affective auras Phenotypic_abnormality 7 HP:0012004 HP:0012004 Mnemonic auras Phenotypic_abnormality 7 HP:0012007 HP:0012007 Hallucinatory auras Phenotypic_abnormality 7 HP:0012008 HP:0012008 Illusory auras Phenotypic_abnormality 7 HP:0012019 HP:0012019 Lens luxation Phenotypic_abnormality 7 HP:0012020 HP:0012020 Right aortic arch Phenotypic_abnormality 7 HP:0012040 HP:0012040 Corneal stromal edema Phenotypic_abnormality 7 HP:0012044 HP:0012044 Seesaw nystagmus Phenotypic_abnormality 7 HP:0012045 HP:0012045 Retinal flecks Phenotypic_abnormality 7 HP:0012048 HP:0012048 Oromandibular dystonia Phenotypic_abnormality 7 HP:0012069 HP:0012069 Keratan sulfate excretion in urine Phenotypic_abnormality 7 HP:0012070 HP:0012070 Chondroitin sulfate excretion in urine Phenotypic_abnormality 7 HP:0012126 HP:0012126 Stomach cancer Phenotypic_abnormality 7 HP:0012160 HP:0012160 Intracranial internal carotid artery dissection Phenotypic_abnormality 7 HP:0012166 HP:0012166 Skin-picking Phenotypic_abnormality 7 HP:0012167 HP:0012167 Hair-pulling Phenotypic_abnormality 7 HP:0012168 HP:0012168 Head-banging Phenotypic_abnormality 7 HP:0012169 HP:0012169 Self-biting Phenotypic_abnormality 7 HP:0012174 HP:0012174 Glioblastoma multiforme Phenotypic_abnormality 7 HP:0012178 HP:0012178 Reduced natural killer cell activity Phenotypic_abnormality 7 HP:0012192 HP:0012192 Cutaneous T-cell lymphoma Phenotypic_abnormality 7 HP:0012193 HP:0012193 Anaplastic large-cell lymphoma Phenotypic_abnormality 7 HP:0012213 HP:0012213 Decreased glomerular filtration rate Phenotypic_abnormality 7 HP:0012214 HP:0012214 Increased glomerular filtration rate Phenotypic_abnormality 7 HP:0012215 HP:0012215 Testicular microlithiasis Phenotypic_abnormality 7 HP:0012220 HP:0012220 Non-caseating epithelioid cell granulomatosis Phenotypic_abnormality 7 HP:0012234 HP:0012234 Agranulocytosis Phenotypic_abnormality 7 HP:0012247 HP:0012247 Specific anosmia Phenotypic_abnormality 7 HP:0012256 HP:0012256 Absent outer dynein arms Phenotypic_abnormality 7 HP:0012257 HP:0012257 Absent inner dynein arms Phenotypic_abnormality 7 HP:0012282 HP:0012282 Morbilliform rash Phenotypic_abnormality 7 HP:0012286 HP:0012286 Abnormal hypothalamus morphology Phenotypic_abnormality 7 HP:0012292 HP:0012292 Fusion of gums Phenotypic_abnormality 7 HP:0012301 HP:0012301 Type II transferrin isoform profile Phenotypic_abnormality 7 HP:0012306 HP:0012306 Abnormal rib ossification Phenotypic_abnormality 7 HP:0012330 HP:0012330 Pyelonephritis Phenotypic_abnormality 7 HP:0012350 HP:0012350 Decreased sialylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012351 HP:0012351 Increased sialylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012353 HP:0012353 Decreased fucosylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012354 HP:0012354 Increased fucosylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012356 HP:0012356 Decreased mannosylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012357 HP:0012357 Increased mannosylation of N-linked protein glycosylation Phenotypic_abnormality 7 HP:0012360 HP:0012360 Decreased fucosylation of O-linked protein glycosylation Phenotypic_abnormality 7 HP:0012361 HP:0012361 Increased fucosylation of O-linked protein glycosylation Phenotypic_abnormality 7 HP:0012363 HP:0012363 Decreased sialylation of O-linked protein glycosylation Phenotypic_abnormality 7 HP:0012364 HP:0012364 Decreased urinary potassium Phenotypic_abnormality 7 HP:0012365 HP:0012365 Hypophosphaturia Phenotypic_abnormality 7 HP:0012366 HP:0012366 Basilar invagination Phenotypic_abnormality 7 HP:0012370 HP:0012370 Cheekbone prominence Phenotypic_abnormality 7 HP:0000003 HP:0000003 Multicystic kidney dysplasia Phenotypic_abnormality 7 HP:0000024 HP:0000024 Prostatitis Phenotypic_abnormality 7 HP:0000028 HP:0000028 Cryptorchidism Phenotypic_abnormality 7 HP:0000029 HP:0000029 Testicular atrophy Phenotypic_abnormality 7 HP:0000031 HP:0000031 Epididymitis Phenotypic_abnormality 7 HP:0000034 HP:0000034 Hydrocele testis Phenotypic_abnormality 7 HP:0000040 HP:0000040 Enlarged penis Phenotypic_abnormality 7 HP:0000041 HP:0000041 Chordee Phenotypic_abnormality 7 HP:0000046 HP:0000046 Scrotal hypoplasia Phenotypic_abnormality 7 HP:0000048 HP:0000048 Bifid scrotum Phenotypic_abnormality 7 HP:0000049 HP:0000049 Shawl scrotum Phenotypic_abnormality 7 HP:0000052 HP:0000052 Urethral atresia, male Phenotypic_abnormality 7 HP:0000053 HP:0000053 Macroorchidism Phenotypic_abnormality 7 HP:0000057 HP:0000057 Clitoromegaly Phenotypic_abnormality 7 HP:0000060 HP:0000060 Clitoral hypoplasia Phenotypic_abnormality 7 HP:0000063 HP:0000063 Fused labia minora Phenotypic_abnormality 7 HP:0000065 HP:0000065 Labial hypertrophy Phenotypic_abnormality 7 HP:0000066 HP:0000066 Labial hypoplasia Phenotypic_abnormality 7 HP:0000068 HP:0000068 Urethral atresia Phenotypic_abnormality 7 HP:0000074 HP:0000074 Ureteropelvic junction obstruction Phenotypic_abnormality 7 HP:0000085 HP:0000085 Horseshoe kidney Phenotypic_abnormality 7 HP:0000086 HP:0000086 Ectopic kidney Phenotypic_abnormality 7 HP:0000089 HP:0000089 Renal hypoplasia Phenotypic_abnormality 7 HP:0000090 HP:0000090 Nephronophthisis Phenotypic_abnormality 7 HP:0000091 HP:0000091 Abnormality of the renal tubule Phenotypic_abnormality 7 HP:0000095 HP:0000095 Abnormality of the glomerulus Phenotypic_abnormality 7 HP:0000099 HP:0000099 Glomerulonephritis Phenotypic_abnormality 7 HP:0000104 HP:0000104 Renal agenesis Phenotypic_abnormality 7 HP:0000108 HP:0000108 Renal corticomedullary cysts Phenotypic_abnormality 7 HP:0000113 HP:0000113 Polycystic kidney dysplasia Phenotypic_abnormality 7 HP:0000117 HP:0000117 Renal phosphate wasting Phenotypic_abnormality 7 HP:0000128 HP:0000128 Renal potassium wasting Phenotypic_abnormality 7 HP:0000136 HP:0000136 Bifid uterus Phenotypic_abnormality 7 HP:0000138 HP:0000138 Ovarian cysts Phenotypic_abnormality 7 HP:0000141 HP:0000141 Amenorrhea Phenotypic_abnormality 7 HP:0000155 HP:0000155 Oral ulcer Phenotypic_abnormality 7 HP:0000162 HP:0000162 Glossoptosis Phenotypic_abnormality 7 HP:0000179 HP:0000179 Thick lower lip vermilion Phenotypic_abnormality 7 HP:0000180 HP:0000180 Lobulated tongue Phenotypic_abnormality 7 HP:0000182 HP:0000182 Movement abnormality of the tongue Phenotypic_abnormality 7 HP:0000187 HP:0000187 Broad alveolar ridges Phenotypic_abnormality 7 HP:0000188 HP:0000188 Short upper lip Phenotypic_abnormality 7 HP:0000189 HP:0000189 Narrow palate Phenotypic_abnormality 7 HP:0000191 HP:0000191 Accessory oral frenulum Phenotypic_abnormality 7 HP:0000196 HP:0000196 Lower lip pit Phenotypic_abnormality 7 HP:0000197 HP:0000197 Abnormality of parotid gland Phenotypic_abnormality 7 HP:0000199 HP:0000199 Tongue nodules Phenotypic_abnormality 7 HP:0000200 HP:0000200 Short lingual frenulum Phenotypic_abnormality 7 HP:0000206 HP:0000206 Glossitis Phenotypic_abnormality 7 HP:0000211 HP:0000211 Trismus Phenotypic_abnormality 7 HP:0000212 HP:0000212 Gingival overgrowth Phenotypic_abnormality 7 HP:0000215 HP:0000215 Thick upper lip vermilion Phenotypic_abnormality 7 HP:0000217 HP:0000217 Xerostomia Phenotypic_abnormality 7 HP:0000218 HP:0000218 High palate Phenotypic_abnormality 7 HP:0000219 HP:0000219 Thin upper lip vermilion Phenotypic_abnormality 7 HP:0000221 HP:0000221 Furrowed tongue Phenotypic_abnormality 7 HP:0000222 HP:0000222 Gingival hyperkeratosis Phenotypic_abnormality 7 HP:0000227 HP:0000227 Tongue telangiectasia Phenotypic_abnormality 7 HP:0000228 HP:0000228 Oral cavity teleangiectasia Phenotypic_abnormality 7 HP:0000230 HP:0000230 Gingivitis Phenotypic_abnormality 7 HP:0000232 HP:0000232 Everted lower lip vermilion Phenotypic_abnormality 7 HP:0000243 HP:0000243 Trigonocephaly Phenotypic_abnormality 7 HP:0000246 HP:0000246 Sinusitis Phenotypic_abnormality 7 HP:0000248 HP:0000248 Brachycephaly Phenotypic_abnormality 7 HP:0000262 HP:0000262 Turricephaly Phenotypic_abnormality 7 HP:0000267 HP:0000267 Cranial asymmetry Phenotypic_abnormality 7 HP:0000268 HP:0000268 Dolichocephaly Phenotypic_abnormality 7 HP:0000278 HP:0000278 Retrognathia Phenotypic_abnormality 7 HP:0000346 HP:0000346 Whistling appearance Phenotypic_abnormality 7 HP:0000376 HP:0000376 Incomplete partition of the cochlea type II Phenotypic_abnormality 7 HP:0000418 HP:0000418 Narrow nasal ridge Phenotypic_abnormality 7 HP:0000430 HP:0000430 Underdeveloped nasal alae Phenotypic_abnormality 7 HP:0000437 HP:0000437 Depressed nasal tip Phenotypic_abnormality 7 HP:0000444 HP:0000444 Convex nasal ridge Phenotypic_abnormality 7 HP:0000451 HP:0000451 Triangular nasal tip Phenotypic_abnormality 7 HP:0000454 HP:0000454 Flared nostrils Phenotypic_abnormality 7 HP:0000455 HP:0000455 Broad nasal tip Phenotypic_abnormality 7 HP:0000456 HP:0000456 Bifid nasal tip Phenotypic_abnormality 7 HP:0000457 HP:0000457 Depressed nasal ridge Phenotypic_abnormality 7 HP:0000482 HP:0000482 Microcornea Phenotypic_abnormality 7 HP:0000485 HP:0000485 Megalocornea Phenotypic_abnormality 7 HP:0000488 HP:0000488 Retinopathy Phenotypic_abnormality 7 HP:0000512 HP:0000512 Abnormal electroretinogram Phenotypic_abnormality 7 HP:0000519 HP:0000519 Congenital cataract Phenotypic_abnormality 7 HP:0000526 HP:0000526 Aniridia Phenotypic_abnormality 7 HP:0000527 HP:0000527 Long eyelashes Phenotypic_abnormality 7 HP:0000532 HP:0000532 Chorioretinal abnormality Phenotypic_abnormality 7 HP:0000535 HP:0000535 Sparse eyebrow Phenotypic_abnormality 7 HP:0000538 HP:0000538 Pseudopapilledema Phenotypic_abnormality 7 HP:0000541 HP:0000541 Retinal detachment Phenotypic_abnormality 7 HP:0000546 HP:0000546 Retinal degeneration Phenotypic_abnormality 7 HP:0000552 HP:0000552 Tritanomaly Phenotypic_abnormality 7 HP:0000555 HP:0000555 Leukocoria Phenotypic_abnormality 7 HP:0000556 HP:0000556 Retinal dystrophy Phenotypic_abnormality 7 HP:0000558 HP:0000558 Rieger anomaly Phenotypic_abnormality 7 HP:0000580 HP:0000580 Pigmentary retinopathy Phenotypic_abnormality 7 HP:0000586 HP:0000586 Shallow orbits Phenotypic_abnormality 7 HP:0000590 HP:0000590 Progressive external ophthalmoplegia Phenotypic_abnormality 7 HP:0000627 HP:0000627 Posterior embryotoxon Phenotypic_abnormality 7 HP:0000635 HP:0000635 Blue irides Phenotypic_abnormality 7 HP:0000636 HP:0000636 Upper eyelid coloboma Phenotypic_abnormality 7 HP:0000647 HP:0000647 Sclerocornea Phenotypic_abnormality 7 HP:0000652 HP:0000652 Lower eyelid coloboma Phenotypic_abnormality 7 HP:0000659 HP:0000659 Peters anomaly Phenotypic_abnormality 7 HP:0000660 HP:0000660 Lipemia retinalis Phenotypic_abnormality 7 HP:0000676 HP:0000676 Abnormality of the incisor Phenotypic_abnormality 7 HP:0000692 HP:0000692 Misalignment of teeth Phenotypic_abnormality 7 HP:0000700 HP:0000700 Periapical radiolucency Phenotypic_abnormality 7 HP:0000704 HP:0000704 Periodontitis Phenotypic_abnormality 7 HP:0000727 HP:0000727 Frontal lobe dementia Phenotypic_abnormality 7 HP:0000740 HP:0000740 Anxiety (with pheochromocytoma) Phenotypic_abnormality 7 HP:0000742 HP:0000742 Self-mutilation Phenotypic_abnormality 7 HP:0000791 HP:0000791 Uric acid nephrolithiasis Phenotypic_abnormality 7 HP:0000796 HP:0000796 Urethral obstruction Phenotypic_abnormality 7 HP:0000800 HP:0000800 Cystic renal dysplasia Phenotypic_abnormality 7 HP:0000803 HP:0000803 Renal cortical cysts Phenotypic_abnormality 7 HP:0000804 HP:0000804 Xanthine nephrolithiasis Phenotypic_abnormality 7 HP:0000813 HP:0000813 Bicornuate uterus Phenotypic_abnormality 7 HP:0000839 HP:0000839 Pituitary dwarfism Phenotypic_abnormality 7 HP:0000858 HP:0000858 Menstrual irregularities Phenotypic_abnormality 7 HP:0000876 HP:0000876 Oligomenorrhea Phenotypic_abnormality 7 HP:0000879 HP:0000879 Short sternum Phenotypic_abnormality 7 HP:0000882 HP:0000882 Hypoplastic scapulae Phenotypic_abnormality 7 HP:0000883 HP:0000883 Thin ribs Phenotypic_abnormality 7 HP:0000885 HP:0000885 Broad ribs Phenotypic_abnormality 7 HP:0000887 HP:0000887 Cupped ribs Phenotypic_abnormality 7 HP:0000888 HP:0000888 Horizontal ribs Phenotypic_abnormality 7 HP:0000892 HP:0000892 Bifid ribs Phenotypic_abnormality 7 HP:0000894 HP:0000894 Short clavicles Phenotypic_abnormality 7 HP:0000900 HP:0000900 Thickened ribs Phenotypic_abnormality 7 HP:0000902 HP:0000902 Rib fusion Phenotypic_abnormality 7 HP:0000904 HP:0000904 Flaring of rib cage Phenotypic_abnormality 7 HP:0000911 HP:0000911 Flat glenoid fossa Phenotypic_abnormality 7 HP:0000914 HP:0000914 Shield chest Phenotypic_abnormality 7 HP:0000915 HP:0000915 Pectus excavatum of inferior sternum Phenotypic_abnormality 7 HP:0000917 HP:0000917 Superior pectus carinatum Phenotypic_abnormality 7 HP:0000919 HP:0000919 Abnormality of the costochondral junction Phenotypic_abnormality 7 HP:0000923 HP:0000923 Beaded ribs Phenotypic_abnormality 7 HP:0000926 HP:0000926 Platyspondyly Phenotypic_abnormality 7 HP:0000931 HP:0000931 Thinning and bulging of the posterior fossa bones Phenotypic_abnormality 7 HP:0000956 HP:0000956 Acanthosis nigricans Phenotypic_abnormality 7 HP:0000962 HP:0000962 Hyperkeratosis Phenotypic_abnormality 7 HP:0000973 HP:0000973 Cutis laxa Phenotypic_abnormality 7 HP:0000974 HP:0000974 Hyperextensible skin Phenotypic_abnormality 7 HP:0000976 HP:0000976 Eczematoid dermatitis Phenotypic_abnormality 7 HP:0000997 HP:0000997 Axillary freckling Phenotypic_abnormality 7 HP:0001008 HP:0001008 Accumulation of melanosomes in melanocytes Phenotypic_abnormality 7 HP:0001027 HP:0001027 Soft, doughy skin Phenotypic_abnormality 7 HP:0001036 HP:0001036 Parakeratosis Phenotypic_abnormality 7 HP:0001043 HP:0001043 Prominent scalp veins Phenotypic_abnormality 7 HP:0001046 HP:0001046 Intermittent jaundice Phenotypic_abnormality 7 HP:0001051 HP:0001051 Seborrheic dermatitis Phenotypic_abnormality 7 HP:0001073 HP:0001073 Cigarette-paper scars Phenotypic_abnormality 7 HP:0001081 HP:0001081 Cholelithiasis Phenotypic_abnormality 7 HP:0001082 HP:0001082 Cholecystitis Phenotypic_abnormality 7 HP:0001088 HP:0001088 Brushfield spots Phenotypic_abnormality 7 HP:0001093 HP:0001093 Optic nerve dysplasia Phenotypic_abnormality 7 HP:0001094 HP:0001094 Iridocyclitis Phenotypic_abnormality 7 HP:0001095 HP:0001095 Hypertensive retinopathy Phenotypic_abnormality 7 HP:0001100 HP:0001100 Heterochromia iridis Phenotypic_abnormality 7 HP:0001102 HP:0001102 Angioid streaks of the retina Phenotypic_abnormality 7 HP:0001103 HP:0001103 Abnormality of the macula Phenotypic_abnormality 7 HP:0001105 HP:0001105 Retinal atrophy Phenotypic_abnormality 7 HP:0001112 HP:0001112 Leber optic atrophy Phenotypic_abnormality 7 HP:0001118 HP:0001118 Juvenile cataract Phenotypic_abnormality 7 HP:0001128 HP:0001128 Trichiasis Phenotypic_abnormality 7 HP:0001132 HP:0001132 Lens subluxation Phenotypic_abnormality 7 HP:0001137 HP:0001137 Alternating esotropia Phenotypic_abnormality 7 HP:0001138 HP:0001138 Optic neuropathy Phenotypic_abnormality 7 HP:0001139 HP:0001139 Choroideremia Phenotypic_abnormality 7 HP:0001142 HP:0001142 Lenticonus Phenotypic_abnormality 7 HP:0001147 HP:0001147 Retinal exudate Phenotypic_abnormality 7 HP:0001149 HP:0001149 Lattice corneal dystrophy Phenotypic_abnormality 7 HP:0001150 HP:0001150 Choroidal sclerosis Phenotypic_abnormality 7 HP:0001153 HP:0001153 Septate vagina Phenotypic_abnormality 7 HP:0001156 HP:0001156 Brachydactyly syndrome Phenotypic_abnormality 7 HP:0001161 HP:0001161 Hand polydactyly Phenotypic_abnormality 7 HP:0001163 HP:0001163 Abnormality of the metacarpal bones Phenotypic_abnormality 7 HP:0001178 HP:0001178 Ulnar claw Phenotypic_abnormality 7 HP:0001180 HP:0001180 Oligodactyly (hands) Phenotypic_abnormality 7 HP:0001191 HP:0001191 Abnormality of the carpal bones Phenotypic_abnormality 7 HP:0001248 HP:0001248 Short tubular bones (hand) Phenotypic_abnormality 7 HP:0001264 HP:0001264 Spastic diplegia Phenotypic_abnormality 7 HP:0001269 HP:0001269 Hemiparesis Phenotypic_abnormality 7 HP:0001285 HP:0001285 Spastic tetraparesis Phenotypic_abnormality 7 HP:0001317 HP:0001317 Abnormality of the cerebellum Phenotypic_abnormality 7 HP:0001334 HP:0001334 Communicating hydrocephalus Phenotypic_abnormality 7 HP:0001342 HP:0001342 Cerebral hemorrhage Phenotypic_abnormality 7 HP:0001349 HP:0001349 Facial diplegia Phenotypic_abnormality 7 HP:0001355 HP:0001355 Megalencephaly Phenotypic_abnormality 7 HP:0001357 HP:0001357 Plagiocephaly Phenotypic_abnormality 7 HP:0001362 HP:0001362 Skull defect Phenotypic_abnormality 7 HP:0001363 HP:0001363 Craniosynostosis Phenotypic_abnormality 7 HP:0001408 HP:0001408 Bile duct proliferation Phenotypic_abnormality 7 HP:0001421 HP:0001421 Abnormality of the musculature of the hand Phenotypic_abnormality 7 HP:0001430 HP:0001430 Abnormality of the calf musculature Phenotypic_abnormality 7 HP:0001435 HP:0001435 Abnormality of the shoulder girdle musculature Phenotypic_abnormality 7 HP:0001436 HP:0001436 Abnormality of the foot musculature Phenotypic_abnormality 7 HP:0001440 HP:0001440 Synostosis involving metatarsal bones Phenotypic_abnormality 7 HP:0001441 HP:0001441 Abnormality of the musculature of the thigh Phenotypic_abnormality 7 HP:0001457 HP:0001457 Abnormality of the musculature of the upper arm Phenotypic_abnormality 7 HP:0001492 HP:0001492 Axenfeld anomaly Phenotypic_abnormality 7 HP:0001549 HP:0001549 Abnormality of the ileum Phenotypic_abnormality 7 HP:0001552 HP:0001552 Barrel-shaped chest Phenotypic_abnormality 7 HP:0001587 HP:0001587 Primary ovarian failure Phenotypic_abnormality 7 HP:0001655 HP:0001655 Patent foramen ovale Phenotypic_abnormality 7 HP:0001658 HP:0001658 Myocardial infarction Phenotypic_abnormality 7 HP:0001670 HP:0001670 Asymmetric septal hypertrophy Phenotypic_abnormality 7 HP:0001681 HP:0001681 Angina pectoris Phenotypic_abnormality 7 HP:0001682 HP:0001682 Subaortic stenosis Phenotypic_abnormality 7 HP:0001684 HP:0001684 Secundum atrial septal defect Phenotypic_abnormality 7 HP:0001761 HP:0001761 Pes cavus Phenotypic_abnormality 7 HP:0001763 HP:0001763 Pes planus Phenotypic_abnormality 7 HP:0001769 HP:0001769 Broad foot Phenotypic_abnormality 7 HP:0001770 HP:0001770 Toe syndactyly Phenotypic_abnormality 7 HP:0001786 HP:0001786 Narrow foot Phenotypic_abnormality 7 HP:0001829 HP:0001829 Foot polydactyly Phenotypic_abnormality 7 HP:0001831 HP:0001831 Short toe Phenotypic_abnormality 7 HP:0001832 HP:0001832 Abnormality of the metatarsal bones Phenotypic_abnormality 7 HP:0001833 HP:0001833 Long foot Phenotypic_abnormality 7 HP:0001836 HP:0001836 Camptodactyly of toe Phenotypic_abnormality 7 HP:0001849 HP:0001849 Oligodactyly (feet) Phenotypic_abnormality 7 HP:0001850 HP:0001850 Abnormality of the tarsal bones Phenotypic_abnormality 7 HP:0001854 HP:0001854 Gout (feet) Phenotypic_abnormality 7 HP:0001919 HP:0001919 Acute kidney injury Phenotypic_abnormality 7 HP:0001994 HP:0001994 Renal Fanconi syndrome Phenotypic_abnormality 7 HP:0002000 HP:0002000 Short columella Phenotypic_abnormality 7 HP:0002010 HP:0002010 Narrow maxilla Phenotypic_abnormality 7 HP:0002021 HP:0002021 Pyloric stenosis Phenotypic_abnormality 7 HP:0002023 HP:0002023 Anal atresia Phenotypic_abnormality 7 HP:0002025 HP:0002025 Anal stenosis Phenotypic_abnormality 7 HP:0002043 HP:0002043 Esophageal stricture Phenotypic_abnormality 7 HP:0002048 HP:0002048 Renal cortical atrophy Phenotypic_abnormality 7 HP:0002054 HP:0002054 Heavy supraorbital ridges Phenotypic_abnormality 7 HP:0002055 HP:0002055 Curved linear dimple below the lower lip Phenotypic_abnormality 7 HP:0002061 HP:0002061 Lower limb spasticity Phenotypic_abnormality 7 HP:0002064 HP:0002064 Spastic gait Phenotypic_abnormality 7 HP:0002068 HP:0002068 Neuromuscular dysphagia Phenotypic_abnormality 7 HP:0002085 HP:0002085 Occipital encephalocele Phenotypic_abnormality 7 HP:0002100 HP:0002100 Recurrent aspiration pneumonia Phenotypic_abnormality 7 HP:0002132 HP:0002132 Porencephaly Phenotypic_abnormality 7 HP:0002140 HP:0002140 Ischemic stroke Phenotypic_abnormality 7 HP:0002145 HP:0002145 Frontotemporal dementia Phenotypic_abnormality 7 HP:0002159 HP:0002159 Heparan sulfate excretion in urine Phenotypic_abnormality 7 HP:0002166 HP:0002166 Impaired vibration sensation in the lower limbs Phenotypic_abnormality 7 HP:0002179 HP:0002179 Opisthotonus Phenotypic_abnormality 7 HP:0002190 HP:0002190 Choroid plexus cyst Phenotypic_abnormality 7 HP:0002191 HP:0002191 Progressive spasticity Phenotypic_abnormality 7 HP:0002198 HP:0002198 Dilated fourth ventricle Phenotypic_abnormality 7 HP:0002211 HP:0002211 White forelock Phenotypic_abnormality 7 HP:0002218 HP:0002218 Silver-gray hair Phenotypic_abnormality 7 HP:0002236 HP:0002236 Frontal upsweep of hair Phenotypic_abnormality 7 HP:0002243 HP:0002243 Protein-losing enteropathy Phenotypic_abnormality 7 HP:0002246 HP:0002246 Abnormality of the duodenum Phenotypic_abnormality 7 HP:0002247 HP:0002247 Duodenal atresia Phenotypic_abnormality 7 HP:0002251 HP:0002251 Aganglionic megacolon Phenotypic_abnormality 7 HP:0002253 HP:0002253 Colonic diverticulosis Phenotypic_abnormality 7 HP:0002256 HP:0002256 Small bowel diverticula Phenotypic_abnormality 7 HP:0002280 HP:0002280 Enlarged cisterna magna Phenotypic_abnormality 7 HP:0002286 HP:0002286 Fair hair Phenotypic_abnormality 7 HP:0002290 HP:0002290 Poliosis Phenotypic_abnormality 7 HP:0002301 HP:0002301 Hemiplegia Phenotypic_abnormality 7 HP:0002314 HP:0002314 Degeneration of the lateral corticospinal tracts Phenotypic_abnormality 7 HP:0002326 HP:0002326 Transient ischemic attack Phenotypic_abnormality 7 HP:0002343 HP:0002343 Normal pressure hydrocephalus Phenotypic_abnormality 7 HP:0002352 HP:0002352 Leukoencephalopathy Phenotypic_abnormality 7 HP:0002365 HP:0002365 Hypoplasia of the brainstem Phenotypic_abnormality 7 HP:0002385 HP:0002385 Paraparesis Phenotypic_abnormality 7 HP:0002401 HP:0002401 Stroke-like episodes Phenotypic_abnormality 7 HP:0002403 HP:0002403 Positive Romberg sign Phenotypic_abnormality 7 HP:0002439 HP:0002439 Frontolimbic dementia Phenotypic_abnormality 7 HP:0002444 HP:0002444 Hypothalamic hamartoma Phenotypic_abnormality 7 HP:0002501 HP:0002501 Spasticity of pharyngeal muscles Phenotypic_abnormality 7 HP:0002510 HP:0002510 Spastic tetraplegia Phenotypic_abnormality 7 HP:0002521 HP:0002521 Hypsarrhythmia Phenotypic_abnormality 7 HP:0002528 HP:0002528 Granulovacuolar degeneration Phenotypic_abnormality 7 HP:0002538 HP:0002538 Abnormality of the cerebral cortex Phenotypic_abnormality 7 HP:0002583 HP:0002583 Colitis Phenotypic_abnormality 7 HP:0002594 HP:0002594 Pancreatic hypoplasia Phenotypic_abnormality 7 HP:0002613 HP:0002613 Biliary cirrhosis Phenotypic_abnormality 7 HP:0002616 HP:0002616 Aortic root dilatation Phenotypic_abnormality 7 HP:0002630 HP:0002630 Fat malabsorption Phenotypic_abnormality 7 HP:0002631 HP:0002631 Ascending aortic aneurysm Phenotypic_abnormality 7 HP:0002676 HP:0002676 Cloverleaf skull Phenotypic_abnormality 7 HP:0002678 HP:0002678 Skull asymmetry Phenotypic_abnormality 7 HP:0002680 HP:0002680 J-shaped sella turcica Phenotypic_abnormality 7 HP:0002682 HP:0002682 Broad skull Phenotypic_abnormality 7 HP:0002687 HP:0002687 Abnormality of the frontal sinuses Phenotypic_abnormality 7 HP:0002691 HP:0002691 Platybasia Phenotypic_abnormality 7 HP:0002696 HP:0002696 Abnormality of the parietal bone Phenotypic_abnormality 7 HP:0002707 HP:0002707 Palate telangiectasia Phenotypic_abnormality 7 HP:0002708 HP:0002708 Prominent median palatal raphe Phenotypic_abnormality 7 HP:0002710 HP:0002710 Commissural lip pit Phenotypic_abnormality 7 HP:0002745 HP:0002745 Oral leukoplakia Phenotypic_abnormality 7 HP:0002751 HP:0002751 Kyphoscoliosis Phenotypic_abnormality 7 HP:0002773 HP:0002773 Small vertebral bodies Phenotypic_abnormality 7 HP:0002786 HP:0002786 Tracheobronchomalacia Phenotypic_abnormality 7 HP:0002804 HP:0002804 Arthrogryposis multiplex congenita Phenotypic_abnormality 7 HP:0002815 HP:0002815 Abnormality of the knees Phenotypic_abnormality 7 HP:0002818 HP:0002818 Abnormality of the radius Phenotypic_abnormality 7 HP:0002847 HP:0002847 Impaired memory B-cell generation Phenotypic_abnormality 7 HP:0002853 HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells Phenotypic_abnormality 7 HP:0002864 HP:0002864 Paraganglioma of head and neck Phenotypic_abnormality 7 HP:0002879 HP:0002879 Anisospondyly Phenotypic_abnormality 7 HP:0002888 HP:0002888 Ependymoma Phenotypic_abnormality 7 HP:0002907 HP:0002907 Microscopic hematuria Phenotypic_abnormality 7 HP:0002909 HP:0002909 Generalized aminoaciduria Phenotypic_abnormality 7 HP:0002914 HP:0002914 Hyperchloridura Phenotypic_abnormality 7 HP:0002937 HP:0002937 Hemivertebrae Phenotypic_abnormality 7 HP:0002938 HP:0002938 Lumbar hyperlordosis Phenotypic_abnormality 7 HP:0002944 HP:0002944 Thoracolumbar scoliosis Phenotypic_abnormality 7 HP:0002947 HP:0002947 Cervical kyphosis Phenotypic_abnormality 7 HP:0002949 HP:0002949 Fused cervical vertebrae Phenotypic_abnormality 7 HP:0002959 HP:0002959 Impaired Ig class switch recombination Phenotypic_abnormality 7 HP:0002963 HP:0002963 Abnormal delayed hypersensitivity skin test Phenotypic_abnormality 7 HP:0002980 HP:0002980 Femoral bowing Phenotypic_abnormality 7 HP:0002983 HP:0002983 Micromelia Phenotypic_abnormality 7 HP:0002991 HP:0002991 Abnormality of the fibula Phenotypic_abnormality 7 HP:0002992 HP:0002992 Abnormality of the tibia Phenotypic_abnormality 7 HP:0002997 HP:0002997 Abnormality of the ulna Phenotypic_abnormality 7 HP:0003005 HP:0003005 Ganglioneuroma Phenotypic_abnormality 7 HP:0003006 HP:0003006 Neuroblastoma Phenotypic_abnormality 7 HP:0003015 HP:0003015 Flared metaphyses Phenotypic_abnormality 7 HP:0003019 HP:0003019 Abnormality of the wrist Phenotypic_abnormality 7 HP:0003027 HP:0003027 Mesomelia Phenotypic_abnormality 7 HP:0003028 HP:0003028 Abnormality of the ankles Phenotypic_abnormality 7 HP:0003057 HP:0003057 Tetraamelia Phenotypic_abnormality 7 HP:0003059 HP:0003059 Abnormality of the radioulnar joints Phenotypic_abnormality 7 HP:0003063 HP:0003063 Abnormality of the humerus Phenotypic_abnormality 7 HP:0003081 HP:0003081 Increased urinary potassium Phenotypic_abnormality 7 HP:0003093 HP:0003093 Limited hip extension Phenotypic_abnormality 7 HP:0003109 HP:0003109 Hyperphosphaturia Phenotypic_abnormality 7 HP:0003159 HP:0003159 Hyperoxaluria Phenotypic_abnormality 7 HP:0003166 HP:0003166 Increased urinary taurine Phenotypic_abnormality 7 HP:0003167 HP:0003167 Carnosinuria Phenotypic_abnormality 7 HP:0003168 HP:0003168 Dibasicaminoaciduria Phenotypic_abnormality 7 HP:0003184 HP:0003184 Decreased hip abduction Phenotypic_abnormality 7 HP:0003191 HP:0003191 Cleft ala nasi Phenotypic_abnormality 7 HP:0003246 HP:0003246 Prominent scrotal raphe Phenotypic_abnormality 7 HP:0003273 HP:0003273 Hip contracture Phenotypic_abnormality 7 HP:0003298 HP:0003298 Spina bifida occulta Phenotypic_abnormality 7 HP:0003300 HP:0003300 Ovoid vertebral bodies Phenotypic_abnormality 7 HP:0003305 HP:0003305 Block vertebrae Phenotypic_abnormality 7 HP:0003320 HP:0003320 C1-C2 subluxation Phenotypic_abnormality 7 HP:0003332 HP:0003332 Absent primary metaphyseal spongiosa Phenotypic_abnormality 7 HP:0003333 HP:0003333 Increased serum beta-hexosaminidase Phenotypic_abnormality 7 HP:0003339 HP:0003339 Pyrimidine-responsive megaloblastic anemia Phenotypic_abnormality 7 HP:0003345 HP:0003345 Elevated urinary norepinephrine Phenotypic_abnormality 7 HP:0003366 HP:0003366 Abnormality of the femoral neck and head region Phenotypic_abnormality 7 HP:0003438 HP:0003438 Absent Achilles reflex Phenotypic_abnormality 7 HP:0003495 HP:0003495 GM2-ganglioside accumulation Phenotypic_abnormality 7 HP:0003513 HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance Phenotypic_abnormality 7 HP:0003532 HP:0003532 Ornithinuria Phenotypic_abnormality 7 HP:0003610 HP:0003610 Fibroblast metachromasia Phenotypic_abnormality 7 HP:0003639 HP:0003639 Elevated urinary epinephrine Phenotypic_abnormality 7 HP:0003642 HP:0003642 Type I transferrin isoform profile Phenotypic_abnormality 7 HP:0003656 HP:0003656 Decreased beta-glucocerebrosidase protein and activity Phenotypic_abnormality 7 HP:0003683 HP:0003683 Large beaked nose Phenotypic_abnormality 7 HP:0003762 HP:0003762 Uterus didelphys Phenotypic_abnormality 7 HP:0003781 HP:0003781 Excessive salivation Phenotypic_abnormality 7 HP:0003835 HP:0003835 Shoulder subluxation Phenotypic_abnormality 7 HP:0003840 HP:0003840 Delayed upper limb epiphyseal ossification Phenotypic_abnormality 7 HP:0003843 HP:0003843 Round epiphyses of the upper limbs Phenotypic_abnormality 7 HP:0003846 HP:0003846 Wide epiphyseal plates of the upper limbs Phenotypic_abnormality 7 HP:0003848 HP:0003848 Cupped metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003849 HP:0003849 Flared metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003850 HP:0003850 Irregular metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003851 HP:0003851 Lytic defects in metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003852 HP:0003852 Normal density transverse bands in metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003854 HP:0003854 Sclerosis of metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003855 HP:0003855 Spurred metaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003856 HP:0003856 Upper limb metaphyseal widening Phenotypic_abnormality 7 HP:0003858 HP:0003858 Cortical diaphyseal irregularity of the upper limbs Phenotypic_abnormality 7 HP:0003859 HP:0003859 Cortical diaphyseal thickening of the upper limbs Phenotypic_abnormality 7 HP:0003860 HP:0003860 Diaphyseal sclerosis of the upper limbs Phenotypic_abnormality 7 HP:0003861 HP:0003861 Broad diaphyses of the upper limbs Phenotypic_abnormality 7 HP:0003868 HP:0003868 Cortical thickening (humeral) Phenotypic_abnormality 7 HP:0003881 HP:0003881 Humeral sclerosis Phenotypic_abnormality 7 HP:0003891 HP:0003891 Abnormality of the humeral epiphysis Phenotypic_abnormality 7 HP:0003907 HP:0003907 Abnormality of the humeral metaphyses Phenotypic_abnormality 7 HP:0003910 HP:0003910 Enlarged humeral metaphyses Phenotypic_abnormality 7 HP:0003926 HP:0003926 Abnormality of the humeral diaphysis Phenotypic_abnormality 7 HP:0003946 HP:0003946 Abnormality of the epiphyses of the elbow Phenotypic_abnormality 7 HP:0003949 HP:0003949 Abnormality of the elbow metaphyses Phenotypic_abnormality 7 HP:0003953 HP:0003953 Absent forearm bone Phenotypic_abnormality 7 HP:0003954 HP:0003954 Angulated forearm bones Phenotypic_abnormality 7 HP:0003955 HP:0003955 Bone-in-a-bone appearance (forearm) Phenotypic_abnormality 7 HP:0003956 HP:0003956 Bowed forearm bones Phenotypic_abnormality 7 HP:0003957 HP:0003957 Cortical thickening of the forearm bones Phenotypic_abnormality 7 HP:0003958 HP:0003958 Cross-fusion of the forearm bones Phenotypic_abnormality 7 HP:0003959 HP:0003959 Deformed forearm bones Phenotypic_abnormality 7 HP:0003961 HP:0003961 Fractured forearm bones Phenotypic_abnormality 7 HP:0003963 HP:0003963 Lytic defects of the forearm bones Phenotypic_abnormality 7 HP:0003964 HP:0003964 Osteoporotic forearm bones Phenotypic_abnormality 7 HP:0003965 HP:0003965 Pseudarthrosis of the forearm bones Phenotypic_abnormality 7 HP:0003966 HP:0003966 Sclerotic foci in forearm bones Phenotypic_abnormality 7 HP:0003967 HP:0003967 Sclerotic forearm bones Phenotypic_abnormality 7 HP:0003969 HP:0003969 Slender forearm bones Phenotypic_abnormality 7 HP:0003970 HP:0003970 Undermodelled forearm bones Phenotypic_abnormality 7 HP:0003971 HP:0003971 Broad forearm bones Phenotypic_abnormality 7 HP:0003991 HP:0003991 Osteosclerosis of the ulna Phenotypic_abnormality 7 HP:0003999 HP:0003999 Abnormality of radial epiphyses Phenotypic_abnormality 7 HP:0004015 HP:0004015 Abnormality of radial metaphyses Phenotypic_abnormality 7 HP:0004027 HP:0004027 Abnormality of radial diaphysis Phenotypic_abnormality 7 HP:0004037 HP:0004037 Abnormality of the ulnar epiphyses Phenotypic_abnormality 7 HP:0004039 HP:0004039 Abnormality of ulnar metaphysis Phenotypic_abnormality 7 HP:0004112 HP:0004112 Midline nasal groove Phenotypic_abnormality 7 HP:0004132 HP:0004132 Dimple on nasal tip Phenotypic_abnormality 7 HP:0004240 HP:0004240 Sclerotic foci within carpal bones Phenotypic_abnormality 7 HP:0004241 HP:0004241 Stippled calcification in carpal bones Phenotypic_abnormality 7 HP:0000013 HP:0000013 Hypoplasia of the uterus Phenotypic_abnormality 8 HP:0000030 HP:0000030 Testicular gonadoblastoma Phenotypic_abnormality 8 HP:0000039 HP:0000039 Epispadias Phenotypic_abnormality 8 HP:0000047 HP:0000047 Hypospadias Phenotypic_abnormality 8 HP:0000054 HP:0000054 Micropenis Phenotypic_abnormality 8 HP:0000059 HP:0000059 Hypoplastic labia majora Phenotypic_abnormality 8 HP:0000064 HP:0000064 Hypoplastic labia minora Phenotypic_abnormality 8 HP:0000092 HP:0000092 Tubular atrophy Phenotypic_abnormality 8 HP:0000096 HP:0000096 Glomerulosclerosis Phenotypic_abnormality 8 HP:0000103 HP:0000103 Polyuria Phenotypic_abnormality 8 HP:0000111 HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia Phenotypic_abnormality 8 HP:0000114 HP:0000114 Proximal tubulopathy Phenotypic_abnormality 8 HP:0000122 HP:0000122 Unilateral renal agenesis Phenotypic_abnormality 8 HP:0000125 HP:0000125 Pelvic kidney Phenotypic_abnormality 8 HP:0000126 HP:0000126 Hydronephrosis Phenotypic_abnormality 8 HP:0000131 HP:0000131 Uterine leiomyoma Phenotypic_abnormality 8 HP:0000143 HP:0000143 Rectovaginal fistula Phenotypic_abnormality 8 HP:0000145 HP:0000145 Transverse vaginal septum Phenotypic_abnormality 8 HP:0000147 HP:0000147 Polycystic ovaries Phenotypic_abnormality 8 HP:0000149 HP:0000149 Ovarian gonadoblastoma Phenotypic_abnormality 8 HP:0000151 HP:0000151 Aplasia of the uterus Phenotypic_abnormality 8 HP:0000161 HP:0000161 Median cleft lip Phenotypic_abnormality 8 HP:0000166 HP:0000166 Severe periodontitis Phenotypic_abnormality 8 HP:0000171 HP:0000171 Microglossia Phenotypic_abnormality 8 HP:0000172 HP:0000172 Abnormality of the uvula Phenotypic_abnormality 8 HP:0000176 HP:0000176 Submucous cleft hard palate Phenotypic_abnormality 8 HP:0000183 HP:0000183 Difficulty in tongue movements Phenotypic_abnormality 8 HP:0000198 HP:0000198 Absence of Stensen duct Phenotypic_abnormality 8 HP:0000216 HP:0000216 Broad secondary alveolar ridge Phenotypic_abnormality 8 HP:0000220 HP:0000220 Velopharyngeal insufficiency Phenotypic_abnormality 8 HP:0000224 HP:0000224 Decreased taste sensation Phenotypic_abnormality 8 HP:0000236 HP:0000236 Abnormality of the anterior fontanelle Phenotypic_abnormality 8 HP:0000239 HP:0000239 Large fontanelles Phenotypic_abnormality 8 HP:0000242 HP:0000242 Parietal bossing Phenotypic_abnormality 8 HP:0000244 HP:0000244 Brachyturricephaly Phenotypic_abnormality 8 HP:0000255 HP:0000255 Acute sinusitis Phenotypic_abnormality 8 HP:0000263 HP:0000263 Oxycephaly Phenotypic_abnormality 8 HP:0000269 HP:0000269 Prominent occiput Phenotypic_abnormality 8 HP:0000270 HP:0000270 Delayed cranial suture closure Phenotypic_abnormality 8 HP:0000294 HP:0000294 Low anterior hairline Phenotypic_abnormality 8 HP:0000308 HP:0000308 Microretrognathia Phenotypic_abnormality 8 HP:0000327 HP:0000327 Hypoplasia of the maxilla Phenotypic_abnormality 8 HP:0000347 HP:0000347 Micrognathia Phenotypic_abnormality 8 HP:0000484 HP:0000484 Hyperopic astigmatism Phenotypic_abnormality 8 HP:0000493 HP:0000493 Abnormality of the fovea Phenotypic_abnormality 8 HP:0000494 HP:0000494 Downslanted palpebral fissures Phenotypic_abnormality 8 HP:0000495 HP:0000495 Recurrent corneal erosions Phenotypic_abnormality 8 HP:0000523 HP:0000523 Subcapsular cataract Phenotypic_abnormality 8 HP:0000531 HP:0000531 Corneal crystals Phenotypic_abnormality 8 HP:0000533 HP:0000533 Chorioretinal atrophy Phenotypic_abnormality 8 HP:0000543 HP:0000543 Optic disc pallor Phenotypic_abnormality 8 HP:0000547 HP:0000547 Tapetoretinal degeneration Phenotypic_abnormality 8 HP:0000548 HP:0000548 Cone-rod dystrophy Phenotypic_abnormality 8 HP:0000550 HP:0000550 Abolished electroretinogram (ERG) Phenotypic_abnormality 8 HP:0000563 HP:0000563 Keratoconus Phenotypic_abnormality 8 HP:0000567 HP:0000567 Chorioretinal coloboma Phenotypic_abnormality 8 HP:0000581 HP:0000581 Blepharophimosis Phenotypic_abnormality 8 HP:0000582 HP:0000582 Upslanted palpebral fissure Phenotypic_abnormality 8 HP:0000584 HP:0000584 Punctate corneal epithelial erosions Phenotypic_abnormality 8 HP:0000608 HP:0000608 Macular degeneration Phenotypic_abnormality 8 HP:0000616 HP:0000616 Miosis Phenotypic_abnormality 8 HP:0000637 HP:0000637 Long palpebral fissure Phenotypic_abnormality 8 HP:0000648 HP:0000648 Optic atrophy Phenotypic_abnormality 8 HP:0000653 HP:0000653 Sparse eyelashes Phenotypic_abnormality 8 HP:0000654 HP:0000654 Decreased electroretinogram (ERG) amplitude Phenotypic_abnormality 8 HP:0000655 HP:0000655 Vitreoretinal degeneration Phenotypic_abnormality 8 HP:0000670 HP:0000670 Carious teeth Phenotypic_abnormality 8 HP:0000678 HP:0000678 Dental crowding Phenotypic_abnormality 8 HP:0000680 HP:0000680 Delayed eruption of primary teeth Phenotypic_abnormality 8 HP:0000682 HP:0000682 Abnormality of dental enamel Phenotypic_abnormality 8 HP:0000684 HP:0000684 Delayed eruption of teeth Phenotypic_abnormality 8 HP:0000685 HP:0000685 Hypoplasia of teeth Phenotypic_abnormality 8 HP:0000687 HP:0000687 Widely spaced teeth Phenotypic_abnormality 8 HP:0000689 HP:0000689 Dental malocclusion Phenotypic_abnormality 8 HP:0000691 HP:0000691 Microdontia Phenotypic_abnormality 8 HP:0000698 HP:0000698 Conical tooth Phenotypic_abnormality 8 HP:0000699 HP:0000699 Diastema Phenotypic_abnormality 8 HP:0000706 HP:0000706 Unerupted tooth Phenotypic_abnormality 8 HP:0000773 HP:0000773 Short ribs Phenotypic_abnormality 8 HP:0000786 HP:0000786 Primary amenorrhea Phenotypic_abnormality 8 HP:0000794 HP:0000794 IgA deposition in the glomerulus Phenotypic_abnormality 8 HP:0000869 HP:0000869 Secondary amenorrhea Phenotypic_abnormality 8 HP:0000891 HP:0000891 Cervical ribs Phenotypic_abnormality 8 HP:0000907 HP:0000907 Anterior rib cupping Phenotypic_abnormality 8 HP:0000910 HP:0000910 Wide-cupped costochondral junctions Phenotypic_abnormality 8 HP:0000913 HP:0000913 Posterior rib fusion Phenotypic_abnormality 8 HP:0000920 HP:0000920 Enlargement of the costochondral junction Phenotypic_abnormality 8 HP:0000921 HP:0000921 Missing ribs Phenotypic_abnormality 8 HP:0000922 HP:0000922 Posterior rib cupping Phenotypic_abnormality 8 HP:0000933 HP:0000933 Posterior fossa cyst at the fourth ventricle Phenotypic_abnormality 8 HP:0000945 HP:0000945 Flared irregular metaphyses Phenotypic_abnormality 8 HP:0000982 HP:0000982 Palmoplantar keratoderma Phenotypic_abnormality 8 HP:0000999 HP:0000999 Pyoderma Phenotypic_abnormality 8 HP:0001085 HP:0001085 Papilledema Phenotypic_abnormality 8 HP:0001115 HP:0001115 Posterior polar cataract Phenotypic_abnormality 8 HP:0001116 HP:0001116 Macular coloboma Phenotypic_abnormality 8 HP:0001119 HP:0001119 Keratoglobus Phenotypic_abnormality 8 HP:0001134 HP:0001134 Anterior polar cataract Phenotypic_abnormality 8 HP:0001135 HP:0001135 Chorioretinal dystrophy Phenotypic_abnormality 8 HP:0001145 HP:0001145 Chorioretinopathy Phenotypic_abnormality 8 HP:0001146 HP:0001146 Pigmentary retinal degeneration Phenotypic_abnormality 8 HP:0001162 HP:0001162 Postaxial hand polydactyly Phenotypic_abnormality 8 HP:0001169 HP:0001169 Broad palm Phenotypic_abnormality 8 HP:0001172 HP:0001172 Abnormality of the thumb Phenotypic_abnormality 8 HP:0001176 HP:0001176 Large hands Phenotypic_abnormality 8 HP:0001177 HP:0001177 Preaxial hand polydactyly Phenotypic_abnormality 8 HP:0001182 HP:0001182 Tapered finger Phenotypic_abnormality 8 HP:0001188 HP:0001188 Hand clenching Phenotypic_abnormality 8 HP:0001193 HP:0001193 Ulnar deviation of the hand or of fingers of the hand Phenotypic_abnormality 8 HP:0001204 HP:0001204 Distal symphalangism (hands) Phenotypic_abnormality 8 HP:0001211 HP:0001211 Abnormality of the fingertips Phenotypic_abnormality 8 HP:0001225 HP:0001225 Wrist swelling Phenotypic_abnormality 8 HP:0001227 HP:0001227 Abnormality of the thenar eminence Phenotypic_abnormality 8 HP:0001233 HP:0001233 2-3 finger syndactyly Phenotypic_abnormality 8 HP:0001238 HP:0001238 Slender finger Phenotypic_abnormality 8 HP:0001239 HP:0001239 Wrist flexion contracture Phenotypic_abnormality 8 HP:0001258 HP:0001258 Spastic paraplegia Phenotypic_abnormality 8 HP:0001272 HP:0001272 Cerebellar atrophy Phenotypic_abnormality 8 HP:0001305 HP:0001305 Dandy-Walker malformation Phenotypic_abnormality 8 HP:0001326 HP:0001326 EEG with irregular generalized spike and wave complexes Phenotypic_abnormality 8 HP:0001331 HP:0001331 Absent septum pellucidum Phenotypic_abnormality 8 HP:0001384 HP:0001384 Abnormality of the hip joint Phenotypic_abnormality 8 HP:0001385 HP:0001385 Hip dysplasia Phenotypic_abnormality 8 HP:0001401 HP:0001401 Intrahepatic biliary dysgenesis Phenotypic_abnormality 8 HP:0001449 HP:0001449 Duplication of metatarsal bones Phenotypic_abnormality 8 HP:0001464 HP:0001464 Aplasia/Hypoplasia involving the shoulder musculature Phenotypic_abnormality 8 HP:0001465 HP:0001465 Amyotrophy involving the shoulder musculature Phenotypic_abnormality 8 HP:0001468 HP:0001468 Aplasia/Hypoplasia involving the musculature of the upper arm Phenotypic_abnormality 8 HP:0001473 HP:0001473 Metatarsal osteolysis Phenotypic_abnormality 8 HP:0001493 HP:0001493 Falciform retinal fold Phenotypic_abnormality 8 HP:0001500 HP:0001500 Broad finger Phenotypic_abnormality 8 HP:0001545 HP:0001545 Anteriorly placed anus Phenotypic_abnormality 8 HP:0001572 HP:0001572 Macrodontia Phenotypic_abnormality 8 HP:0001582 HP:0001582 Redundant skin Phenotypic_abnormality 8 HP:0001691 HP:0001691 Muscular subvalvular aortic stenosis Phenotypic_abnormality 8 HP:0001741 HP:0001741 Phimosis Phenotypic_abnormality 8 HP:0001765 HP:0001765 Hammertoe Phenotypic_abnormality 8 HP:0001771 HP:0001771 Achilles tendon contracture Phenotypic_abnormality 8 HP:0001773 HP:0001773 Short foot Phenotypic_abnormality 8 HP:0001782 HP:0001782 Bulbous tips of toes Phenotypic_abnormality 8 HP:0001783 HP:0001783 Broad metatarsal Phenotypic_abnormality 8 HP:0001785 HP:0001785 Ankle swelling Phenotypic_abnormality 8 HP:0001830 HP:0001830 Postaxial foot polydactyly Phenotypic_abnormality 8 HP:0001837 HP:0001837 Broad toe Phenotypic_abnormality 8 HP:0001840 HP:0001840 Metatarsus adductus Phenotypic_abnormality 8 HP:0001841 HP:0001841 Preaxial foot polydactyly Phenotypic_abnormality 8 HP:0001842 HP:0001842 Acroosteolysis (feet) Phenotypic_abnormality 8 HP:0001844 HP:0001844 Abnormality of the hallux Phenotypic_abnormality 8 HP:0001845 HP:0001845 Overlapping toe Phenotypic_abnormality 8 HP:0001852 HP:0001852 Sandal gap Phenotypic_abnormality 8 HP:0001853 HP:0001853 Bifid distal phalanx of toe Phenotypic_abnormality 8 HP:0001859 HP:0001859 Distal symphalangism (feet) Phenotypic_abnormality 8 HP:0001863 HP:0001863 Toe clinodactyly Phenotypic_abnormality 8 HP:0001875 HP:0001875 Neutropenia Phenotypic_abnormality 8 HP:0001883 HP:0001883 Talipes Phenotypic_abnormality 8 HP:0001964 HP:0001964 Aplasia/Hypoplasia of metatarsal bones Phenotypic_abnormality 8 HP:0001966 HP:0001966 Mesangial abnormality Phenotypic_abnormality 8 HP:0001969 HP:0001969 Tubulointerstitial abnormality Phenotypic_abnormality 8 HP:0001991 HP:0001991 Aplasia/Hypoplasia of toe Phenotypic_abnormality 8 HP:0002035 HP:0002035 Rectal prolapse Phenotypic_abnormality 8 HP:0002049 HP:0002049 Proximal renal tubular acidosis Phenotypic_abnormality 8 HP:0002050 HP:0002050 Macroorchidism, postpubertal Phenotypic_abnormality 8 HP:0002059 HP:0002059 Cerebral atrophy Phenotypic_abnormality 8 HP:0002134 HP:0002134 Abnormality of the basal ganglia Phenotypic_abnormality 8 HP:0002135 HP:0002135 Basal ganglia calcification Phenotypic_abnormality 8 HP:0002185 HP:0002185 Neurofibrillary tangles Phenotypic_abnormality 8 HP:0002245 HP:0002245 Meckel diverticulum Phenotypic_abnormality 8 HP:0002263 HP:0002263 Exaggerated cupid's bow Phenotypic_abnormality 8 HP:0002313 HP:0002313 Spastic paraparesis Phenotypic_abnormality 8 HP:0002323 HP:0002323 Anencephaly Phenotypic_abnormality 8 HP:0002389 HP:0002389 Cavum septum pellucidum Phenotypic_abnormality 8 HP:0002392 HP:0002392 EEG with polyspike wave complexes Phenotypic_abnormality 8 HP:0002436 HP:0002436 Occipital meningocele Phenotypic_abnormality 8 HP:0002438 HP:0002438 Cerebellar malformation Phenotypic_abnormality 8 HP:0002472 HP:0002472 Small cerebral cortex Phenotypic_abnormality 8 HP:0002475 HP:0002475 Myelomeningocele Phenotypic_abnormality 8 HP:0002478 HP:0002478 Progressive spastic quadriplegia Phenotypic_abnormality 8 HP:0002500 HP:0002500 Abnormality of the cerebral white matter Phenotypic_abnormality 8 HP:0002518 HP:0002518 Abnormality of the periventricular white matter Phenotypic_abnormality 8 HP:0002539 HP:0002539 Cortical dysplasia Phenotypic_abnormality 8 HP:0002542 HP:0002542 Olivopontocerebellar atrophy Phenotypic_abnormality 8 HP:0002544 HP:0002544 Retrocollis Phenotypic_abnormality 8 HP:0002570 HP:0002570 Steatorrhea Phenotypic_abnormality 8 HP:0002588 HP:0002588 Duodenal ulcer Phenotypic_abnormality 8 HP:0002590 HP:0002590 Paralytic ileus Phenotypic_abnormality 8 HP:0002607 HP:0002607 Bowel incontinence Phenotypic_abnormality 8 HP:0002627 HP:0002627 Right aortic arch with mirror image branching Phenotypic_abnormality 8 HP:0002645 HP:0002645 Wormian bones Phenotypic_abnormality 8 HP:0002695 HP:0002695 Symmetrical, oval parietal bone defects Phenotypic_abnormality 8 HP:0002697 HP:0002697 Parietal foramina Phenotypic_abnormality 8 HP:0002705 HP:0002705 High, narrow palate Phenotypic_abnormality 8 HP:0002711 HP:0002711 Exaggerated median tongue furrow Phenotypic_abnormality 8 HP:0002816 HP:0002816 Genu recurvatum Phenotypic_abnormality 8 HP:0002822 HP:0002822 Hyperplasia of the femoral trochanters Phenotypic_abnormality 8 HP:0002834 HP:0002834 Flared femoral metaphysis Phenotypic_abnormality 8 HP:0002845 HP:0002845 Increased number of peripheral CD3+ T cells Phenotypic_abnormality 8 HP:0002851 HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors Phenotypic_abnormality 8 HP:0002857 HP:0002857 Genu valgum Phenotypic_abnormality 8 HP:0002867 HP:0002867 Abnormality of the ilium Phenotypic_abnormality 8 HP:0002886 HP:0002886 Vagal paraganglioma Phenotypic_abnormality 8 HP:0002965 HP:0002965 Cutaneous anergy Phenotypic_abnormality 8 HP:0002967 HP:0002967 Cubitus valgus Phenotypic_abnormality 8 HP:0002970 HP:0002970 Genu varum Phenotypic_abnormality 8 HP:0002972 HP:0002972 Reduced delayed hypersensitivity Phenotypic_abnormality 8 HP:0002974 HP:0002974 Radioulnar synostosis Phenotypic_abnormality 8 HP:0002982 HP:0002982 Tibial bowing Phenotypic_abnormality 8 HP:0002986 HP:0002986 Radial bowing Phenotypic_abnormality 8 HP:0002987 HP:0002987 Elbow flexion contracture Phenotypic_abnormality 8 HP:0003001 HP:0003001 Glomus jugular tumor Phenotypic_abnormality 8 HP:0003020 HP:0003020 Enlargement of the wrists Phenotypic_abnormality 8 HP:0003029 HP:0003029 Enlargement of the ankles Phenotypic_abnormality 8 HP:0003031 HP:0003031 Ulnar bowing Phenotypic_abnormality 8 HP:0003041 HP:0003041 Humeroradial synostosis Phenotypic_abnormality 8 HP:0003042 HP:0003042 Elbow dislocation Phenotypic_abnormality 8 HP:0003045 HP:0003045 Abnormality of the patella Phenotypic_abnormality 8 HP:0003049 HP:0003049 Ulnar deviation of the wrist Phenotypic_abnormality 8 HP:0003066 HP:0003066 Limited knee extension Phenotypic_abnormality 8 HP:0003067 HP:0003067 Madelung deformity Phenotypic_abnormality 8 HP:0003068 HP:0003068 Madelung-like forearm deformities Phenotypic_abnormality 8 HP:0003085 HP:0003085 Long fibula Phenotypic_abnormality 8 HP:0003086 HP:0003086 Acromesomelia Phenotypic_abnormality 8 HP:0003089 HP:0003089 Hamstring contractures Phenotypic_abnormality 8 HP:0003091 HP:0003091 Trophic limb changes Phenotypic_abnormality 8 HP:0003097 HP:0003097 Short femur Phenotypic_abnormality 8 HP:0003099 HP:0003099 Fibular overgrowth Phenotypic_abnormality 8 HP:0003102 HP:0003102 Increased carrying angle Phenotypic_abnormality 8 HP:0003150 HP:0003150 Glutaric aciduria Phenotypic_abnormality 8 HP:0003172 HP:0003172 Abnormality of the pubic bones Phenotypic_abnormality 8 HP:0003174 HP:0003174 Abnormality of the ischium Phenotypic_abnormality 8 HP:0003219 HP:0003219 Ethylmalonic aciduria Phenotypic_abnormality 8 HP:0003250 HP:0003250 Aplasia of the vagina Phenotypic_abnormality 8 HP:0003279 HP:0003279 Coxa magna Phenotypic_abnormality 8 HP:0003301 HP:0003301 Irregular vertebral endplates Phenotypic_abnormality 8 HP:0003309 HP:0003309 Ovoid thoracolumbar vertebrae Phenotypic_abnormality 8 HP:0003316 HP:0003316 Butterfly vertebrae Phenotypic_abnormality 8 HP:0003321 HP:0003321 Biconcave flattened vertebrae Phenotypic_abnormality 8 HP:0003344 HP:0003344 3-Methylglutaric aciduria Phenotypic_abnormality 8 HP:0003365 HP:0003365 Arthralgia of the hip Phenotypic_abnormality 8 HP:0003367 HP:0003367 Abnormality of the femoral neck Phenotypic_abnormality 8 HP:0003368 HP:0003368 Abnormality of the femoral head Phenotypic_abnormality 8 HP:0003411 HP:0003411 Irregular proximal femoral metaphyses Phenotypic_abnormality 8 HP:0003417 HP:0003417 Coronal cleft vertebrae Phenotypic_abnormality 8 HP:0003421 HP:0003421 Platyspondyly (childhood) Phenotypic_abnormality 8 HP:0003423 HP:0003423 Thoracolumbar kyphoscoliosis Phenotypic_abnormality 8 HP:0003707 HP:0003707 Calf muscle pseudohypertrophy Phenotypic_abnormality 8 HP:0003774 HP:0003774 Stage 5 chronic kidney disease Phenotypic_abnormality 8 HP:0003779 HP:0003779 Antegonial notching of mandible Phenotypic_abnormality 8 HP:0003832 HP:0003832 Abnormality of the tibial plateaux Phenotypic_abnormality 8 HP:0003853 HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbs Phenotypic_abnormality 8 HP:0003863 HP:0003863 Angulated humerus Phenotypic_abnormality 8 HP:0003864 HP:0003864 Bifid humerus Phenotypic_abnormality 8 HP:0003865 HP:0003865 Bowed humerus Phenotypic_abnormality 8 HP:0003866 HP:0003866 Coarse trabeculae (humeral) Phenotypic_abnormality 8 HP:0003870 HP:0003870 Crumpled humerus Phenotypic_abnormality 8 HP:0003871 HP:0003871 Deformed humerus Phenotypic_abnormality 8 HP:0003874 HP:0003874 Humerus varus Phenotypic_abnormality 8 HP:0003875 HP:0003875 Lytic defects (humeral) Phenotypic_abnormality 8 HP:0003876 HP:0003876 Osteoporotic humerus Phenotypic_abnormality 8 HP:0003877 HP:0003877 Oval transradiancy (humeral) Phenotypic_abnormality 8 HP:0003878 HP:0003878 Periosteal new bone (humeral) Phenotypic_abnormality 8 HP:0003879 HP:0003879 Pseudarthrosis (humeral) Phenotypic_abnormality 8 HP:0003883 HP:0003883 Tapered humerus Phenotypic_abnormality 8 HP:0003884 HP:0003884 Triangular humerus Phenotypic_abnormality 8 HP:0003885 HP:0003885 Undermodeled humerus Phenotypic_abnormality 8 HP:0003886 HP:0003886 Wide humerus Phenotypic_abnormality 8 HP:0003887 HP:0003887 Abnormality of the humeral heads Phenotypic_abnormality 8 HP:0003889 HP:0003889 Abnormality of the deltoid tuberosities Phenotypic_abnormality 8 HP:0003896 HP:0003896 Irregular humeral epiphyses Phenotypic_abnormality 8 HP:0003899 HP:0003899 Round humeral epiphyses Phenotypic_abnormality 8 HP:0003900 HP:0003900 Small humeral epiphyses Phenotypic_abnormality 8 HP:0003902 HP:0003902 Epiphyseal stippling of the humerus Phenotypic_abnormality 8 HP:0003903 HP:0003903 Broad humeral epiphyses Phenotypic_abnormality 8 HP:0003906 HP:0003906 Broad humeral epiphyseal plate Phenotypic_abnormality 8 HP:0003913 HP:0003913 Irregular humeral metaphyses Phenotypic_abnormality 8 HP:0003915 HP:0003915 Lytic defects of the humeral metaphsis Phenotypic_abnormality 8 HP:0003916 HP:0003916 Normal-density transverse bands (humerus) Phenotypic_abnormality 8 HP:0003927 HP:0003927 Cortical irregularity of humeral diaphysis Phenotypic_abnormality 8 HP:0003928 HP:0003928 Cortical thickening of humeral diaphysis Phenotypic_abnormality 8 HP:0003935 HP:0003935 Wide humeral diaphysis Phenotypic_abnormality 8 HP:0003938 HP:0003938 Synostosis involving the elbow Phenotypic_abnormality 8 HP:0003941 HP:0003941 Stippled calcification of the elbow Phenotypic_abnormality 8 HP:0003942 HP:0003942 Synovial chondromatosis of the elbow Phenotypic_abnormality 8 HP:0003943 HP:0003943 Abnormality of the joint spaces of the elbow Phenotypic_abnormality 8 HP:0003945 HP:0003945 Irregular articular surfaces of the elbow joints Phenotypic_abnormality 8 HP:0003948 HP:0003948 Irregular epiphyses of the elbow Phenotypic_abnormality 8 HP:0003951 HP:0003951 Irregular metaphyses (elbow) Phenotypic_abnormality 8 HP:0003952 HP:0003952 Sclerotic foci of metaphyses of the elbow Phenotypic_abnormality 8 HP:0003974 HP:0003974 Absent radius Phenotypic_abnormality 8 HP:0003975 HP:0003975 Chevron-shaped/cone-shaped radius Phenotypic_abnormality 8 HP:0003976 HP:0003976 Constricted radius Phenotypic_abnormality 8 HP:0003977 HP:0003977 Deformed radius Phenotypic_abnormality 8 HP:0003978 HP:0003978 Fractured radius Phenotypic_abnormality 8 HP:0003979 HP:0003979 Lytic defects of the radius Phenotypic_abnormality 8 HP:0003980 HP:0003980 Pseudarthrosis of the radius Phenotypic_abnormality 8 HP:0003981 HP:0003981 Broad radius Phenotypic_abnormality 8 HP:0003982 HP:0003982 Absent ulna Phenotypic_abnormality 8 HP:0003984 HP:0003984 Posteriorly dislocated ulna Phenotypic_abnormality 8 HP:0003985 HP:0003985 Exostoses of the ulna Phenotypic_abnormality 8 HP:0003986 HP:0003986 Exostoses of the radius Phenotypic_abnormality 8 HP:0003987 HP:0003987 Fractured ulna Phenotypic_abnormality 8 HP:0003988 HP:0003988 Long ulna Phenotypic_abnormality 8 HP:0003989 HP:0003989 Notched ulna Phenotypic_abnormality 8 HP:0003990 HP:0003990 Pointed ulna Phenotypic_abnormality 8 HP:0003993 HP:0003993 Broad ulna Phenotypic_abnormality 8 HP:0003995 HP:0003995 Abnormality of the radial head Phenotypic_abnormality 8 HP:0003998 HP:0003998 Constricted radial neck Phenotypic_abnormality 8 HP:0004016 HP:0004016 Cupped radial metaphyses Phenotypic_abnormality 8 HP:0004019 HP:0004019 Irregular radial metaphysis Phenotypic_abnormality 8 HP:0004021 HP:0004021 Lytic defects of radial metaphysis Phenotypic_abnormality 8 HP:0004022 HP:0004022 Sclerotic radial metaphysis with longitudinal striations Phenotypic_abnormality 8 HP:0004026 HP:0004026 Broad radial metaphysis Phenotypic_abnormality 8 HP:0004032 HP:0004032 Abnormality of the olecranon Phenotypic_abnormality 8 HP:0004035 HP:0004035 Abnormality of the styloid process Phenotypic_abnormality 8 HP:0004042 HP:0004042 Irregular ulnar metaphysis Phenotypic_abnormality 8 HP:0004046 HP:0004046 Spurred ulnar metaphysis Phenotypic_abnormality 8 HP:0004047 HP:0004047 Wide ulnar metaphysis Phenotypic_abnormality 8 HP:0004048 HP:0004048 Narrow joint spaces of wrist Phenotypic_abnormality 8 HP:0004049 HP:0004049 Decreased carpal angles of wrist Phenotypic_abnormality 8 HP:0004050 HP:0004050 Absent hand Phenotypic_abnormality 8 HP:0004051 HP:0004051 Advanced ossification of the hand bones Phenotypic_abnormality 8 HP:0004052 HP:0004052 Delayed ossification of the hand bones Phenotypic_abnormality 8 HP:0004053 HP:0004053 Dysharmonic maturation of the hand bones Phenotypic_abnormality 8 HP:0004057 HP:0004057 Mitten deformity Phenotypic_abnormality 8 HP:0004060 HP:0004060 Trident hand Phenotypic_abnormality 8 HP:0004095 HP:0004095 Curved fingers Phenotypic_abnormality 8 HP:0004097 HP:0004097 Deviation of finger Phenotypic_abnormality 8 HP:0004100 HP:0004100 Abnormality of the 2nd finger Phenotypic_abnormality 8 HP:0004150 HP:0004150 Abnormality of the 3rd finger Phenotypic_abnormality 8 HP:0004188 HP:0004188 Abnormality of the 4th finger Phenotypic_abnormality 8 HP:0004207 HP:0004207 Abnormality of the 5th finger Phenotypic_abnormality 8 HP:0004232 HP:0004232 Accessory carpal bones Phenotypic_abnormality 8 HP:0004273 HP:0004273 Cupped metaphyses of hand bones Phenotypic_abnormality 8 HP:0004274 HP:0004274 Deficient ossification of hand bones Phenotypic_abnormality 8 HP:0004279 HP:0004279 Short palm Phenotypic_abnormality 8 HP:0004280 HP:0004280 Irregular ossification of hand bones Phenotypic_abnormality 8 HP:0004283 HP:0004283 Narrow palm Phenotypic_abnormality 8 HP:0004284 HP:0004284 Notched hand bones Phenotypic_abnormality 8 HP:0004285 HP:0004285 Overmodelled hand bones Phenotypic_abnormality 8 HP:0004286 HP:0004286 Patchy sclerosis of hand bones Phenotypic_abnormality 8 HP:0004287 HP:0004287 Pointed hand bones Phenotypic_abnormality 8 HP:0004289 HP:0004289 Sclerotic foci in hand bones Phenotypic_abnormality 8 HP:0004290 HP:0004290 Sclerosis of hand bones with transverse striations Phenotypic_abnormality 8 HP:0004291 HP:0004291 Stippled calcification of hand bones Phenotypic_abnormality 8 HP:0004292 HP:0004292 Undermodelled hand bones Phenotypic_abnormality 8 HP:0004313 HP:0004313 Hypogammaglobulinemia Phenotypic_abnormality 8 HP:0004388 HP:0004388 Microcolon Phenotypic_abnormality 8 HP:0004432 HP:0004432 Agammaglobulinemia Phenotypic_abnormality 8 HP:0004478 HP:0004478 Ethmoidal encephalocele Phenotypic_abnormality 8 HP:0004487 HP:0004487 Acrobrachycephaly Phenotypic_abnormality 8 HP:0004495 HP:0004495 Thin anteverted nares Phenotypic_abnormality 8 HP:0004544 HP:0004544 Pointed frontal hairline Phenotypic_abnormality 8 HP:0004562 HP:0004562 Beaking of vertebral bodies T12-L3 Phenotypic_abnormality 8 HP:0004565 HP:0004565 Severe platyspondyly Phenotypic_abnormality 8 HP:0004573 HP:0004573 Anterior wedging of T11 Phenotypic_abnormality 8 HP:0004575 HP:0004575 fusion of midcervical facet joints Phenotypic_abnormality 8 HP:0004576 HP:0004576 Sclerotic vertebral endplates Phenotypic_abnormality 8 HP:0004580 HP:0004580 Anterior scalloping of vertebral bodies Phenotypic_abnormality 8 HP:0004581 HP:0004581 Increased anterior vertebral height Phenotypic_abnormality 8 HP:0004592 HP:0004592 Thoracic platyspondyly Phenotypic_abnormality 8 HP:0004601 HP:0004601 Spina bifida occulta at L5 Phenotypic_abnormality 8 HP:0004602 HP:0004602 Cervical vertebral fusion (C2/C3) Phenotypic_abnormality 8 HP:0004603 HP:0004603 Hyperconvex vertebral body endplates Phenotypic_abnormality 8 HP:0004605 HP:0004605 Absent vertebral body mineralization Phenotypic_abnormality 8 HP:0004606 HP:0004606 Unossified vertebral bodies Phenotypic_abnormality 8 HP:0004607 HP:0004607 Anterior beaking of lower thoracic vertebrae Phenotypic_abnormality 8 HP:0004614 HP:0004614 spina bifida occulta at S1 Phenotypic_abnormality 8 HP:0004616 HP:0004616 Cleft vertebral arch Phenotypic_abnormality 8 HP:0004617 HP:0004617 Butterfly vertebral arch Phenotypic_abnormality 8 HP:0004621 HP:0004621 Enlarged vertebral pedicles Phenotypic_abnormality 8 HP:0004626 HP:0004626 Lumbar scoliosis Phenotypic_abnormality 8 HP:0004630 HP:0004630 Anterior beaking of thoracic vertebrae Phenotypic_abnormality 8 HP:0004633 HP:0004633 Lower thoracic kyphosis Phenotypic_abnormality 8 HP:0004635 HP:0004635 Cervical vertebrae fusion (C5/C6) Phenotypic_abnormality 8 HP:0004679 HP:0004679 Large tarsal bones Phenotypic_abnormality 8 HP:0004684 HP:0004684 Talipes valgus Phenotypic_abnormality 8 HP:0004688 HP:0004688 Irregular tarsal bones Phenotypic_abnormality 8 HP:0004690 HP:0004690 Thickened Achilles tendon Phenotypic_abnormality 8 HP:0004695 HP:0004695 Calcaneal epiphyseal stippling Phenotypic_abnormality 8 HP:0004699 HP:0004699 Osteoporotic metatarsal Phenotypic_abnormality 8 HP:0004722 HP:0004722 Thickening of the glomerular basement membrane Phenotypic_abnormality 8 HP:0004734 HP:0004734 Renal cortical microcysts Phenotypic_abnormality 8 HP:0004736 HP:0004736 Crossed fused renal ectopia Phenotypic_abnormality 8 HP:0004754 HP:0004754 Permanent atrial fibrillation Phenotypic_abnormality 8 HP:0004757 HP:0004757 Paroxysmal atrial fibrillation Phenotypic_abnormality 8 HP:0004783 HP:0004783 Duodenal polyposis Phenotypic_abnormality 8 HP:0004784 HP:0004784 Juvenile gastrointestinal polyposis Phenotypic_abnormality 8 HP:0004786 HP:0004786 Jejunal diverticula Phenotypic_abnormality 8 HP:0004799 HP:0004799 Jejunoileal diverticula Phenotypic_abnormality 8 HP:0004800 HP:0004800 Duodenal diverticula Phenotypic_abnormality 8 HP:0004821 HP:0004821 Hypersegmentation of neutrophil nuclei Phenotypic_abnormality 8 HP:0004910 HP:0004910 Bicarbonate-wasting renal tubular acidosis Phenotypic_abnormality 8 HP:0004968 HP:0004968 Recurrent cerebral hemorrhage Phenotypic_abnormality 8 HP:0004987 HP:0004987 Mesomelic leg shortening Phenotypic_abnormality 8 HP:0004991 HP:0004991 Rhizomelic arm shortening Phenotypic_abnormality 8 HP:0005009 HP:0005009 Dumbbell-shaped humerus Phenotypic_abnormality 8 HP:0005011 HP:0005011 Mesomelic arm shortening Phenotypic_abnormality 8 HP:0005026 HP:0005026 mesomelic/rhizomelic limb shortening Phenotypic_abnormality 8 HP:0005045 HP:0005045 Diaphyseal cortical sclerosis Phenotypic_abnormality 8 HP:0005069 HP:0005069 rhizo-meso-acromelic limb shortening Phenotypic_abnormality 8 HP:0005104 HP:0005104 Hypoplastic nasal septum Phenotypic_abnormality 8 HP:0005121 HP:0005121 Posterior scalloping of vertebral bodies Phenotypic_abnormality 8 HP:0005174 HP:0005174 Membranous subvalvular aortic stenosis Phenotypic_abnormality 8 HP:0005194 HP:0005194 Flattened metatarsal heads Phenotypic_abnormality 8 HP:0005209 HP:0005209 Intrahepatic bile duct cysts Phenotypic_abnormality 8 HP:0005210 HP:0005210 Hypoplastic colon Phenotypic_abnormality 8 HP:0005227 HP:0005227 Adenomatous colonic polyposis Phenotypic_abnormality 8 HP:0005229 HP:0005229 Jejunoileal ulceration Phenotypic_abnormality 8 HP:0005231 HP:0005231 Chronic gastritis Phenotypic_abnormality 8 HP:0005233 HP:0005233 Hypoplasia of the gallbladder Phenotypic_abnormality 8 HP:0005242 HP:0005242 Extrahepatic biliary duct atresia Phenotypic_abnormality 8 HP:0005246 HP:0005246 Giant hypertrophic gastritis Phenotypic_abnormality 8 HP:0005248 HP:0005248 Intrahepatic biliary atresia Phenotypic_abnormality 8 HP:0005258 HP:0005258 Pectoral muscle hypoplasia/aplasia Phenotypic_abnormality 8 HP:0005273 HP:0005273 Absent nasal septal cartilage Phenotypic_abnormality 8 HP:0005303 HP:0005303 Aortic arch calcification Phenotypic_abnormality 8 HP:0005325 HP:0005325 Extension of hair growth on temples to lateral eyebrow Phenotypic_abnormality 8 HP:0005336 HP:0005336 Forehead hyperpigmentation Phenotypic_abnormality 8 HP:0005338 HP:0005338 Sparse lateral eyebrow Phenotypic_abnormality 8 HP:0005365 HP:0005365 Severe B lymphocytopenia Phenotypic_abnormality 8 HP:0005379 HP:0005379 Severe T lymphocytopenia Phenotypic_abnormality 8 HP:0005400 HP:0005400 Reduction of neutrophil motility Phenotypic_abnormality 8 HP:0005407 HP:0005407 Decreased number of CD4+ T cells Phenotypic_abnormality 8 HP:0005409 HP:0005409 Markedly reduced T cell function Phenotypic_abnormality 8 HP:0005415 HP:0005415 Decreased number of CD8+ T cells Phenotypic_abnormality 8 HP:0005439 HP:0005439 Maxillozygomatic hypoplasia Phenotypic_abnormality 8 HP:0005441 HP:0005441 Sclerotic cranial sutures Phenotypic_abnormality 8 HP:0005442 HP:0005442 Widely patent coronal suture Phenotypic_abnormality 8 HP:0005452 HP:0005452 Obliteration of frontal sinuses Phenotypic_abnormality 8 HP:0005453 HP:0005453 Absent/hypoplastic paranasal sinuses Phenotypic_abnormality 8 HP:0005458 HP:0005458 Premature closure of fontanelles Phenotypic_abnormality 8 HP:0005462 HP:0005462 Calcification of falx cerebri Phenotypic_abnormality 8 HP:0005469 HP:0005469 Flat occiput Phenotypic_abnormality 8 HP:0005476 HP:0005476 Widely patent sagittal suture Phenotypic_abnormality 8 HP:0005478 HP:0005478 Prominent frontal sinuses Phenotypic_abnormality 8 HP:0005486 HP:0005486 Small fontanelle Phenotypic_abnormality 8 HP:0005541 HP:0005541 Congenital agranulocytosis Phenotypic_abnormality 8 HP:0005564 HP:0005564 Absence of renal corticomedullary differentiation Phenotypic_abnormality 8 HP:0005565 HP:0005565 Reduced renal corticomedullary differentiation Phenotypic_abnormality 8 HP:0005583 HP:0005583 Tubular basement membrane disintegration Phenotypic_abnormality 8 HP:0005585 HP:0005585 Spotty hyperpigmentation Phenotypic_abnormality 8 HP:0005590 HP:0005590 Spotty hypopigmentation Phenotypic_abnormality 8 HP:0005593 HP:0005593 Macular hypopigmented whorls, streaks, and patches Phenotypic_abnormality 8 HP:0005595 HP:0005595 Generalized hyperkeratosis Phenotypic_abnormality 8 HP:0005598 HP:0005598 Facial telangiectasia in butterfly midface distribution Phenotypic_abnormality 8 HP:0005612 HP:0005612 Arthrogryposis-like hand anomaly Phenotypic_abnormality 8 HP:0005623 HP:0005623 Absent ossification of calvaria Phenotypic_abnormality 8 HP:0005627 HP:0005627 Type D brachydactyly Phenotypic_abnormality 8 HP:0005632 HP:0005632 Absent forearm Phenotypic_abnormality 8 HP:0005659 HP:0005659 Thoracic kyphoscoliosis Phenotypic_abnormality 8 HP:0005671 HP:0005671 Bilateral intracranial calcifications Phenotypic_abnormality 8 HP:0005752 HP:0005752 Flattened moderately deformed vertebrae Phenotypic_abnormality 8 HP:0005756 HP:0005756 Neonatal epiphyseal stippling Phenotypic_abnormality 8 HP:0005787 HP:0005787 Lumbar platyspondyly Phenotypic_abnormality 8 HP:0005829 HP:0005829 Maldevelopment of radioulnar joint Phenotypic_abnormality 8 HP:0005830 HP:0005830 Flexion contracture of toe Phenotypic_abnormality 8 HP:0005831 HP:0005831 Type B brachydactyly Phenotypic_abnormality 8 HP:0005849 HP:0005849 Diffuse cerebral calcification Phenotypic_abnormality 8 HP:0005863 HP:0005863 Type E brachydactyly Phenotypic_abnormality 8 HP:0005872 HP:0005872 Brachytelomesophalangy Phenotypic_abnormality 8 HP:0005885 HP:0005885 Absent ossification of cervical vertebral bodies Phenotypic_abnormality 8 HP:0005891 HP:0005891 Progressive forearm bowing Phenotypic_abnormality 8 HP:0005913 HP:0005913 Abnormality of metacarpal epiphyses Phenotypic_abnormality 8 HP:0005914 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones Phenotypic_abnormality 8 HP:0005916 HP:0005916 Abnormal metacarpal morphology Phenotypic_abnormality 8 HP:0005917 HP:0005917 Supernumerary metacarpal bones Phenotypic_abnormality 8 HP:0005918 HP:0005918 Abnormality of phalanx of finger Phenotypic_abnormality 8 HP:0005920 HP:0005920 Abnormality of the epiphyses of the phalanges of the hand Phenotypic_abnormality 8 HP:0005928 HP:0005928 Synostosis involving the fibula Phenotypic_abnormality 8 HP:0005929 HP:0005929 Synostosis involving the tibia Phenotypic_abnormality 8 HP:0006006 HP:0006006 Hypotrophy of the small hand muscles Phenotypic_abnormality 8 HP:0006008 HP:0006008 Unilateral brachydactyly Phenotypic_abnormality 8 HP:0006016 HP:0006016 Delayed phalangeal epiphyseal ossification Phenotypic_abnormality 8 HP:0006026 HP:0006026 Rounded epiphyses Phenotypic_abnormality 8 HP:0006051 HP:0006051 Metacarpal periosteal thickening Phenotypic_abnormality 8 HP:0006067 HP:0006067 Multiple carpal ossification centers Phenotypic_abnormality 8 HP:0006094 HP:0006094 Finger joint hypermobility Phenotypic_abnormality 8 HP:0006097 HP:0006097 3-4 finger syndactyly Phenotypic_abnormality 8 HP:0006143 HP:0006143 Abnormal finger flexion creases Phenotypic_abnormality 8 HP:0006150 HP:0006150 Swan neck-like deformities of the fingers Phenotypic_abnormality 8 HP:0006152 HP:0006152 Proximal symphalangism (hands) Phenotypic_abnormality 8 HP:0006159 HP:0006159 Mesoaxial hand polydactyly Phenotypic_abnormality 8 HP:0006169 HP:0006169 Decreased mobility 3rd-5th fingers Phenotypic_abnormality 8 HP:0006202 HP:0006202 Osteolysis of scaphoids Phenotypic_abnormality 8 HP:0006228 HP:0006228 Valgus hand deformity Phenotypic_abnormality 8 HP:0006234 HP:0006234 Osteolysis involving tarsal bones Phenotypic_abnormality 8 HP:0006257 HP:0006257 Abnormality of carpal bone ossification Phenotypic_abnormality 8 HP:0006265 HP:0006265 Aplasia/Hypoplasia of fingers Phenotypic_abnormality 8 HP:0006288 HP:0006288 Advanced eruption of teeth Phenotypic_abnormality 8 HP:0006313 HP:0006313 Widely spaced primary teeth Phenotypic_abnormality 8 HP:0006316 HP:0006316 Irregularly spaced teeth Phenotypic_abnormality 8 HP:0006323 HP:0006323 Premature loss of primary teeth Phenotypic_abnormality 8 HP:0006330 HP:0006330 Rotated maxillary central incisors Phenotypic_abnormality 8 HP:0006334 HP:0006334 Hypoplasia of the primary teeth Phenotypic_abnormality 8 HP:0006335 HP:0006335 Persistence of primary teeth Phenotypic_abnormality 8 HP:0006344 HP:0006344 Abnormality of primary molar morphology Phenotypic_abnormality 8 HP:0006347 HP:0006347 Microdontia of primary teeth Phenotypic_abnormality 8 HP:0006357 HP:0006357 Premature loss of permanent teeth Phenotypic_abnormality 8 HP:0006366 HP:0006366 Adductor longus contractures Phenotypic_abnormality 8 HP:0006370 HP:0006370 Distal ulnar epiphyseal stippling Phenotypic_abnormality 8 HP:0006380 HP:0006380 Knee flexion contracture Phenotypic_abnormality 8 HP:0006385 HP:0006385 Short lower limbs Phenotypic_abnormality 8 HP:0006387 HP:0006387 Wide distal femoral metaphysis Phenotypic_abnormality 8 HP:0006409 HP:0006409 Progressive leg bowing Phenotypic_abnormality 8 HP:0006414 HP:0006414 Distal tibial bowing Phenotypic_abnormality 8 HP:0006417 HP:0006417 Broad femoral metaphyses Phenotypic_abnormality 8 HP:0006420 HP:0006420 Asymmetric radial dysplasia Phenotypic_abnormality 8 HP:0006424 HP:0006424 Elongated radius Phenotypic_abnormality 8 HP:0006431 HP:0006431 Metaphyseal abnormalities of distal and proximal femurs Phenotypic_abnormality 8 HP:0006433 HP:0006433 Dysplastic radii Phenotypic_abnormality 8 HP:0006439 HP:0006439 Radioulnar dislocation Phenotypic_abnormality 8 HP:0006441 HP:0006441 Lateral humeral condyle aplasia Phenotypic_abnormality 8 HP:0006459 HP:0006459 Dorsal subluxation of ulna Phenotypic_abnormality 8 HP:0006460 HP:0006460 Increased laxity of ankles Phenotypic_abnormality 8 HP:0006466 HP:0006466 Ankle contracture Phenotypic_abnormality 8 HP:0006479 HP:0006479 Abnormality of the dental pulp Phenotypic_abnormality 8 HP:0006486 HP:0006486 Abnormality of the dental root Phenotypic_abnormality 8 HP:0006495 HP:0006495 Aplasia/Hypoplasia of the ulna Phenotypic_abnormality 8 HP:0006501 HP:0006501 Aplasia/Hypoplasia of the radius Phenotypic_abnormality 8 HP:0006502 HP:0006502 Aplasia/Hypoplasia involving the carpal bones Phenotypic_abnormality 8 HP:0006571 HP:0006571 Reduced number of intrahepatic bile ducts Phenotypic_abnormality 8 HP:0006584 HP:0006584 Small abnormally formed scapulae Phenotypic_abnormality 8 HP:0006589 HP:0006589 Flaring of lower rib cage Phenotypic_abnormality 8 HP:0006603 HP:0006603 Flared, irregular rib ends Phenotypic_abnormality 8 HP:0006606 HP:0006606 Irregular chondrocostal junctions Phenotypic_abnormality 8 HP:0006608 HP:0006608 Midclavicular hypoplasia Phenotypic_abnormality 8 HP:0006623 HP:0006623 Costochondral joint sclerosis Phenotypic_abnormality 8 HP:0006631 HP:0006631 Hypoplastic distal segments of scapulae Phenotypic_abnormality 8 HP:0006634 HP:0006634 Osteosclerosis of ribs Phenotypic_abnormality 8 HP:0006649 HP:0006649 Costochondral pain Phenotypic_abnormality 8 HP:0006715 HP:0006715 Glomus tympanicum paraganglioma Phenotypic_abnormality 8 HP:0006732 HP:0006732 Papillary renal cell carcinoma type 2 Phenotypic_abnormality 8 HP:0006742 HP:0006742 Congenital neuroblastoma Phenotypic_abnormality 8 HP:0006747 HP:0006747 Ganglioneuroblastoma Phenotypic_abnormality 8 HP:0006768 HP:0006768 Localized neuroblastoma Phenotypic_abnormality 8 HP:0006774 HP:0006774 Ovarian papillary adenocarcinoma Phenotypic_abnormality 8 HP:0006790 HP:0006790 Cerebral cortex with spongiform changes Phenotypic_abnormality 8 HP:0006850 HP:0006850 Hypoplasia of the ventral pons Phenotypic_abnormality 8 HP:0006859 HP:0006859 Posterior leukoencephalopathy Phenotypic_abnormality 8 HP:0006872 HP:0006872 Cerebral hypoplasia Phenotypic_abnormality 8 HP:0006891 HP:0006891 Thick cerebral cortex Phenotypic_abnormality 8 HP:0006899 HP:0006899 Fusion of the cerebellar hemispheres Phenotypic_abnormality 8 HP:0006906 HP:0006906 Congenital intracerebral calcification Phenotypic_abnormality 8 HP:0006931 HP:0006931 Lipoma of corpus callosum Phenotypic_abnormality 8 HP:0006938 HP:0006938 Impaired vibration sensation at ankles Phenotypic_abnormality 8 HP:0006943 HP:0006943 Diffuse spongiform leukoencephalopathy Phenotypic_abnormality 8 HP:0006964 HP:0006964 Cerebral cortical neurodegeneration Phenotypic_abnormality 8 HP:0006980 HP:0006980 Progressive leukoencephalopathy Phenotypic_abnormality 8 HP:0006994 HP:0006994 Diffuse leukoencephalopathy Phenotypic_abnormality 8 HP:0007021 HP:0007021 Pain insensitivity Phenotypic_abnormality 8 HP:0007023 HP:0007023 Antenatal intracerebral hemorrhage Phenotypic_abnormality 8 HP:0007029 HP:0007029 Cerebral berry aneurysm Phenotypic_abnormality 8 HP:0007033 HP:0007033 Cerebellar dysplasia Phenotypic_abnormality 8 HP:0007045 HP:0007045 Midline brain calcifications Phenotypic_abnormality 8 HP:0007188 HP:0007188 Congenital facial diplegia Phenotypic_abnormality 8 HP:0007190 HP:0007190 Neuronal loss in the cerebral cortex Phenotypic_abnormality 8 HP:0007206 HP:0007206 Hemimegalencephaly Phenotypic_abnormality 8 HP:0007229 HP:0007229 Intracerebral periventricular calcifications Phenotypic_abnormality 8 HP:0007236 HP:0007236 Recurrent subcortical infarcts Phenotypic_abnormality 8 HP:0007238 HP:0007238 Nonarteriosclerotic cerebral calcification Phenotypic_abnormality 8 HP:0007268 HP:0007268 Aprosencephaly Phenotypic_abnormality 8 HP:0007313 HP:0007313 Cerebral degeneration Phenotypic_abnormality 8 HP:0007346 HP:0007346 Subcortical white matter calcifications Phenotypic_abnormality 8 HP:0007370 HP:0007370 Aplasia/Hypoplasia of the corpus callosum Phenotypic_abnormality 8 HP:0007371 HP:0007371 Corpus callosum atrophy Phenotypic_abnormality 8 HP:0007390 HP:0007390 Hyperkeratosis with erythema Phenotypic_abnormality 8 HP:0007395 HP:0007395 Postnatal-onset ichthyosiform erythroderma Phenotypic_abnormality 8 HP:0007402 HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Phenotypic_abnormality 8 HP:0007406 HP:0007406 Hyperpigmentation of eyelids Phenotypic_abnormality 8 HP:0007407 HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers Phenotypic_abnormality 8 HP:0007421 HP:0007421 Telangiectases of the cheeks Phenotypic_abnormality 8 HP:0007428 HP:0007428 Telangiectasia of the oral mucosa Phenotypic_abnormality 8 HP:0007431 HP:0007431 Congenital ichthyosiform erythroderma Phenotypic_abnormality 8 HP:0007449 HP:0007449 Confetti-like hypopigmented macules Phenotypic_abnormality 8 HP:0007450 HP:0007450 Increased groin pigmentation with raindrop depigmentation Phenotypic_abnormality 8 HP:0007456 HP:0007456 Progressive reticulate hyperpigmentation Phenotypic_abnormality 8 HP:0007458 HP:0007458 Focal hyperextensible skin Phenotypic_abnormality 8 HP:0007468 HP:0007468 Perifollicular hyperkeratosis Phenotypic_abnormality 8 HP:0007471 HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation Phenotypic_abnormality 8 HP:0007490 HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas Phenotypic_abnormality 8 HP:0007501 HP:0007501 Streaks of hyperkeratosis along each finger onto the palm Phenotypic_abnormality 8 HP:0007502 HP:0007502 Follicular hyperkeratosis Phenotypic_abnormality 8 HP:0007503 HP:0007503 Generalized ichthyosis Phenotypic_abnormality 8 HP:0007508 HP:0007508 Punctate palmar and solar hyperkeratosis Phenotypic_abnormality 8 HP:0007509 HP:0007509 Patchy hypo- and hyperpigmentation Phenotypic_abnormality 8 HP:0007521 HP:0007521 Irregular hyperpigmentation of back Phenotypic_abnormality 8 HP:0007526 HP:0007526 Hypopigmented skin patches on arms Phenotypic_abnormality 8 HP:0007536 HP:0007536 Aplasia cutis congenita of midline scalp vertex Phenotypic_abnormality 8 HP:0007542 HP:0007542 Absent pigmentation of the ventral chest Phenotypic_abnormality 8 HP:0007543 HP:0007543 Epidermal hyperkeratosis Phenotypic_abnormality 8 HP:0007546 HP:0007546 Linear hyperpigmentation Phenotypic_abnormality 8 HP:0007556 HP:0007556 Plantar hyperkeratosis Phenotypic_abnormality 8 HP:0007559 HP:0007559 Localized epidermolytic hyperkeratosis Phenotypic_abnormality 8 HP:0007569 HP:0007569 Generalized seborrheic dermatitis Phenotypic_abnormality 8 HP:0007570 HP:0007570 Hyperkeratosis lenticularis perstans Phenotypic_abnormality 8 HP:0007572 HP:0007572 Hyperpigmented streaks Phenotypic_abnormality 8 HP:0007574 HP:0007574 Generalized bronze hyperpigmentation Phenotypic_abnormality 8 HP:0007581 HP:0007581 Mediosternal, longitudinal streak of hypopigmentation Phenotypic_abnormality 8 HP:0007588 HP:0007588 Reticular hyperpigmentation Phenotypic_abnormality 8 HP:0007590 HP:0007590 Aplasia cutis congenita over posterior parietal area Phenotypic_abnormality 8 HP:0007599 HP:0007599 Generalized reticulate brown pigmentation Phenotypic_abnormality 8 HP:0007603 HP:0007603 Freckles in sun-exposed areas Phenotypic_abnormality 8 HP:0007605 HP:0007605 Excessive wrinkling of palmar skin Phenotypic_abnormality 8 HP:0007634 HP:0007634 Nonarteritic anterior ischemic optic neuropathy Phenotypic_abnormality 8 HP:0007648 HP:0007648 Punctate cataract Phenotypic_abnormality 8 HP:0007661 HP:0007661 Chorioretinal hypopigmentation and hyperpigmentation Phenotypic_abnormality 8 HP:0007667 HP:0007667 Cystic retinal degeneration Phenotypic_abnormality 8 HP:0007677 HP:0007677 Vitelliform maculopathy Phenotypic_abnormality 8 HP:0007685 HP:0007685 Peripheral retinal avascularization Phenotypic_abnormality 8 HP:0007690 HP:0007690 Map-dot-fingerprint corneal dystrophy Phenotypic_abnormality 8 HP:0007692 HP:0007692 Nonnuclear polymorphic congenital cataract Phenotypic_abnormality 8 HP:0007695 HP:0007695 Abnormal pupillary light reflex Phenotypic_abnormality 8 HP:0007703 HP:0007703 Abnormal retinal pigmentation Phenotypic_abnormality 8 HP:0007713 HP:0007713 Juvenile zonular cataracts Phenotypic_abnormality 8 HP:0007722 HP:0007722 Loss of retinal pigment epithelium Phenotypic_abnormality 8 HP:0007731 HP:0007731 Chorioretinal dysplasia Phenotypic_abnormality 8 HP:0007736 HP:0007736 Pericentral retinal dystrophy Phenotypic_abnormality 8 HP:0007737 HP:0007737 Bony spicule pigmentary retinopathy Phenotypic_abnormality 8 HP:0007740 HP:0007740 Long eyelashes in irregular rows Phenotypic_abnormality 8 HP:0007755 HP:0007755 Juvenile epithelial corneal dystrophy Phenotypic_abnormality 8 HP:0007757 HP:0007757 Hypoplasia of choroid Phenotypic_abnormality 8 HP:0007766 HP:0007766 Optic disc hypoplasia Phenotypic_abnormality 8 HP:0007768 HP:0007768 Central retinal vessel vascular tortuosity Phenotypic_abnormality 8 HP:0007769 HP:0007769 Peripheral retinal degeneration Phenotypic_abnormality 8 HP:0007770 HP:0007770 Retinal hypoplasia Phenotypic_abnormality 8 HP:0007778 HP:0007778 Neovascularization of peripheral and posterior retina Phenotypic_abnormality 8 HP:0007797 HP:0007797 Retinal vascular malformation Phenotypic_abnormality 8 HP:0007808 HP:0007808 Bilateral retinal coloboma Phenotypic_abnormality 8 HP:0007812 HP:0007812 Herpetiform corneal ulceration Phenotypic_abnormality 8 HP:0007815 HP:0007815 Abnormal distribution of retinal arterioles and venules Phenotypic_abnormality 8 HP:0007818 HP:0007818 Central heterochromia Phenotypic_abnormality 8 HP:0007822 HP:0007822 Central retinal exudate Phenotypic_abnormality 8 HP:0007829 HP:0007829 Diffuse retinal cone degeneration Phenotypic_abnormality 8 HP:0007835 HP:0007835 S-shaped palpebral fissures Phenotypic_abnormality 8 HP:0007840 HP:0007840 Long upper eyelashes Phenotypic_abnormality 8 HP:0007843 HP:0007843 Attenuation of retinal blood vessels Phenotypic_abnormality 8 HP:0007850 HP:0007850 Retinal vascular proliferation Phenotypic_abnormality 8 HP:0007851 HP:0007851 Temporal displacement of maculae Phenotypic_abnormality 8 HP:0007852 HP:0007852 Pericentral pigmentary retinopathy Phenotypic_abnormality 8 HP:0007856 HP:0007856 Punctate opacification of the cornea Phenotypic_abnormality 8 HP:0007858 HP:0007858 Chorioretinal lacunae Phenotypic_abnormality 8 HP:0007867 HP:0007867 Restrictive partial external ophthalmoplegia Phenotypic_abnormality 8 HP:0007874 HP:0007874 Almond-shaped palpebral fissure Phenotypic_abnormality 8 HP:0007876 HP:0007876 Juvenile cortical cataract Phenotypic_abnormality 8 HP:0007893 HP:0007893 Progressive retinal degeneration Phenotypic_abnormality 8 HP:0007894 HP:0007894 Hypopigmentation of the fundus Phenotypic_abnormality 8 HP:0007898 HP:0007898 Exudative retinopathy Phenotypic_abnormality 8 HP:0007899 HP:0007899 Retinal nonattachment Phenotypic_abnormality 8 HP:0007910 HP:0007910 Nonprogressive congenital retinal dystrophy Phenotypic_abnormality 8 HP:0007913 HP:0007913 Reticular retinal dystrophy Phenotypic_abnormality 8 HP:0007915 HP:0007915 Polymorphous posterior corneal dystrophy Phenotypic_abnormality 8 HP:0007917 HP:0007917 Tractional retinal detachment Phenotypic_abnormality 8 HP:0007929 HP:0007929 Peripheral retinal detachment Phenotypic_abnormality 8 HP:0007937 HP:0007937 Honeycomb retinal degeneration Phenotypic_abnormality 8 HP:0007956 HP:0007956 Bilateral choroid coloboma Phenotypic_abnormality 8 HP:0007963 HP:0007963 Macroreticular retinal dystrophy Phenotypic_abnormality 8 HP:0007971 HP:0007971 Lamellar cataract Phenotypic_abnormality 8 HP:0007980 HP:0007980 Absent retinal pigment epithelium Phenotypic_abnormality 8 HP:0007982 HP:0007982 Central tapetoretinal dystrophy Phenotypic_abnormality 8 HP:0007984 HP:0007984 Reduced amplitude of b-wave (ERG) Phenotypic_abnormality 8 HP:0007986 HP:0007986 Increased retinal vascularity Phenotypic_abnormality 8 HP:0007989 HP:0007989 Intraretinal exudate Phenotypic_abnormality 8 HP:0007990 HP:0007990 Hypoplastic iris stroma Phenotypic_abnormality 8 HP:0007992 HP:0007992 Lattice retinal degeneration Phenotypic_abnormality 8 HP:0008002 HP:0008002 Abnormality of macular pigmentation Phenotypic_abnormality 8 HP:0008009 HP:0008009 Three rows of eyelashes Phenotypic_abnormality 8 HP:0008011 HP:0008011 Peripheral opacification of the cornea Phenotypic_abnormality 8 HP:0008019 HP:0008019 Superior lens subluxation Phenotypic_abnormality 8 HP:0008020 HP:0008020 Progressive cone degeneration Phenotypic_abnormality 8 HP:0008024 HP:0008024 Congenital nuclear cataract Phenotypic_abnormality 8 HP:0008036 HP:0008036 Retinal pigmentary dystrophy Phenotypic_abnormality 8 HP:0008039 HP:0008039 Subepithelial corneal opacities Phenotypic_abnormality 8 HP:0008059 HP:0008059 Aplasia/Hypoplasia of the macula Phenotypic_abnormality 8 HP:0008074 HP:0008074 Metatarsal periosteal thickening Phenotypic_abnormality 8 HP:0008075 HP:0008075 Progressive pes cavus Phenotypic_abnormality 8 HP:0008078 HP:0008078 Thin metatarsal cortices Phenotypic_abnormality 8 HP:0008089 HP:0008089 Abnormality of the fifth metatarsal bone Phenotypic_abnormality 8 HP:0008094 HP:0008094 Widely spaced toes Phenotypic_abnormality 8 HP:0008095 HP:0008095 Osteolysis of talus Phenotypic_abnormality 8 HP:0008102 HP:0008102 Expanded metatarsals with widened medullary cavities Phenotypic_abnormality 8 HP:0008116 HP:0008116 Flexion limitation of toes Phenotypic_abnormality 8 HP:0008119 HP:0008119 Deformed tarsal bones Phenotypic_abnormality 8 HP:0008125 HP:0008125 Second metatarsal posteriorly placed Phenotypic_abnormality 8 HP:0008133 HP:0008133 Distal tapering of metatarsals Phenotypic_abnormality 8 HP:0008141 HP:0008141 Dislocation of toes Phenotypic_abnormality 8 HP:0008144 HP:0008144 Flattening of the talar dome Phenotypic_abnormality 8 HP:0008160 HP:0008160 3-hydroxydicarboxylic aciduria Phenotypic_abnormality 8 HP:0008165 HP:0008165 Reduced circulating T-helper cells Phenotypic_abnormality 8 HP:0008179 HP:0008179 Decreased electrooculogram (EOG) Phenotypic_abnormality 8 HP:0008194 HP:0008194 Multiple pancreatic beta-cell adenomas Phenotypic_abnormality 8 HP:0008264 HP:0008264 Neutrophil inclusion bodies Phenotypic_abnormality 8 HP:0008275 HP:0008275 Abnormal cone-mediated electroretinogram Phenotypic_abnormality 8 HP:0008293 HP:0008293 Long-chain dicarboxylic aciduria Phenotypic_abnormality 8 HP:0008309 HP:0008309 Medium chain dicarboxylic aciduria Phenotypic_abnormality 8 HP:0008323 HP:0008323 Abnormal rod and cone electroretinograms Phenotypic_abnormality 8 HP:0008341 HP:0008341 Distal renal tubular acidosis Phenotypic_abnormality 8 HP:0008345 HP:0008345 Hypoplasia of the iris dilator muscle Phenotypic_abnormality 8 HP:0008363 HP:0008363 Aplasia/Hypoplasia of the tarsal bones Phenotypic_abnormality 8 HP:0008364 HP:0008364 Abnormality of the calcaneus Phenotypic_abnormality 8 HP:0008365 HP:0008365 Abnormality of the talus Phenotypic_abnormality 8 HP:0008369 HP:0008369 Abnormal tarsal ossification Phenotypic_abnormality 8 HP:0008371 HP:0008371 Abnormal metatarsal ossification Phenotypic_abnormality 8 HP:0008418 HP:0008418 Squared-off platyspondyly Phenotypic_abnormality 8 HP:0008421 HP:0008421 Tall lumbar vertebral bodies Phenotypic_abnormality 8 HP:0008424 HP:0008424 Hypoplastic 5th lumbar vertebrae Phenotypic_abnormality 8 HP:0008425 HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies Phenotypic_abnormality 8 HP:0008430 HP:0008430 Anterior beaking of lumbar vertebrae Phenotypic_abnormality 8 HP:0008432 HP:0008432 Anterior wedging of L1 Phenotypic_abnormality 8 HP:0008439 HP:0008439 Lumbar hemivertebrae Phenotypic_abnormality 8 HP:0008444 HP:0008444 Posterior wedging of vertebral bodies Phenotypic_abnormality 8 HP:0008447 HP:0008447 Hypoplastic coccygeal vertebrae Phenotypic_abnormality 8 HP:0008449 HP:0008449 Progressive cervical vertebral spine fusion Phenotypic_abnormality 8 HP:0008450 HP:0008450 Narrow vertebral interpedicular distance Phenotypic_abnormality 8 HP:0008451 HP:0008451 Posterior vertebral hypoplasia Phenotypic_abnormality 8 HP:0008453 HP:0008453 Congenital kyphoscoliosis Phenotypic_abnormality 8 HP:0008463 HP:0008463 Central vertebral hypoplasia Phenotypic_abnormality 8 HP:0008464 HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebrae Phenotypic_abnormality 8 HP:0008467 HP:0008467 Thoracic hemivertebrae Phenotypic_abnormality 8 HP:0008475 HP:0008475 Hypoplastic sacral vertebrae Phenotypic_abnormality 8 HP:0008479 HP:0008479 Hypoplastic vertebral bodies Phenotypic_abnormality 8 HP:0008488 HP:0008488 Anterior rounding of vertebral bodies Phenotypic_abnormality 8 HP:0008494 HP:0008494 Inferior lens subluxation Phenotypic_abnormality 8 HP:0008636 HP:0008636 Lobular glomerulopathy Phenotypic_abnormality 8 HP:0008640 HP:0008640 Congenital macroorchidism Phenotypic_abnormality 8 HP:0008648 HP:0008648 Anteriorly displaced urethral meatus Phenotypic_abnormality 8 HP:0008651 HP:0008651 Uric acid urolithiasis independent of gout Phenotypic_abnormality 8 HP:0008660 HP:0008660 Renotubular dysgenesis Phenotypic_abnormality 8 HP:0008661 HP:0008661 Urethral stenosis Phenotypic_abnormality 8 HP:0008670 HP:0008670 Partial vaginal septum Phenotypic_abnormality 8 HP:0008672 HP:0008672 Calcium oxalate nephrolithiasis Phenotypic_abnormality 8 HP:0008675 HP:0008675 Enlarged polycystic ovaries Phenotypic_abnormality 8 HP:0008682 HP:0008682 Acute tubular necrosis Phenotypic_abnormality 8 HP:0008683 HP:0008683 Enlarged labia minora Phenotypic_abnormality 8 HP:0008689 HP:0008689 Bilateral cryptorchidism Phenotypic_abnormality 8 HP:0008697 HP:0008697 Hypoplasia of the fallopian tube Phenotypic_abnormality 8 HP:0008716 HP:0008716 Urethrovaginal fistula Phenotypic_abnormality 8 HP:0008724 HP:0008724 Hypoplasia of the ovary Phenotypic_abnormality 8 HP:0008726 HP:0008726 Hypoplasia of the vagina Phenotypic_abnormality 8 HP:0008739 HP:0008739 Labial pseudohypertrophy Phenotypic_abnormality 8 HP:0008740 HP:0008740 Longitudinal vaginal septum Phenotypic_abnormality 8 HP:0008783 HP:0008783 Wide proximal femoral metaphysis Phenotypic_abnormality 8 HP:0008801 HP:0008801 Hypoplasia of the lesser trochanter Phenotypic_abnormality 8 HP:0008828 HP:0008828 Delayed proximal femoral epiphyseal ossification Phenotypic_abnormality 8 HP:0008945 HP:0008945 Loss of ability to walk in early childhood Phenotypic_abnormality 8 HP:0008962 HP:0008962 Calf muscle hypoplasia Phenotypic_abnormality 8 HP:0009005 HP:0009005 Weakness of the intrinsic hand muscles Phenotypic_abnormality 8 HP:0009027 HP:0009027 Foot dorsiflexor weakness Phenotypic_abnormality 8 HP:0009031 HP:0009031 Amyotrophy of ankle musculature Phenotypic_abnormality 8 HP:0009049 HP:0009049 Peroneal muscle atrophy Phenotypic_abnormality 8 HP:0009054 HP:0009054 Scapuloperoneal myopathy Phenotypic_abnormality 8 HP:0009077 HP:0009077 Weakness of long finger extensor muscles Phenotypic_abnormality 8 HP:0009090 HP:0009090 Facial diplegic appearance Phenotypic_abnormality 8 HP:0009094 HP:0009094 Cleft lower alveolar ridge Phenotypic_abnormality 8 HP:0009100 HP:0009100 Thick anterior alveolar ridges Phenotypic_abnormality 8 HP:0009101 HP:0009101 Submucous cleft lip Phenotypic_abnormality 8 HP:0009119 HP:0009119 Aplasia/Hypoplasia of the frontal sinuses Phenotypic_abnormality 8 HP:0009130 HP:0009130 Hand muscle atrophy Phenotypic_abnormality 8 HP:0009189 HP:0009189 Fragmentation of the metacarpal epiphyses Phenotypic_abnormality 8 HP:0009190 HP:0009190 Irregular epiphyses of the metacarpals Phenotypic_abnormality 8 HP:0009195 HP:0009195 Epiphyseal stippling of the metacarpals Phenotypic_abnormality 8 HP:0012414 HP:0012414 Duodenal atrophy Phenotypic_abnormality 8 HP:0012421 HP:0012421 Congenital absence of foreskin Phenotypic_abnormality 8 HP:0012423 HP:0012423 Colonic inertia Phenotypic_abnormality 8 HP:0012424 HP:0012424 Chorioretinitis Phenotypic_abnormality 8 HP:0012426 HP:0012426 Optic disc drusen Phenotypic_abnormality 8 HP:0012435 HP:0012435 Ventral shortening of foreskin Phenotypic_abnormality 8 HP:0012441 HP:0012441 Sphincter of Oddi dyskinesia Phenotypic_abnormality 8 HP:0012442 HP:0012442 Gallbladder dyskinesia Phenotypic_abnormality 8 HP:0012475 HP:0012475 Specific antibody deficiency Phenotypic_abnormality 8 HP:0012478 HP:0012478 Temporomandibular joint ankylosis Phenotypic_abnormality 8 HP:0012479 HP:0012479 Temporomandibular joint crepitus Phenotypic_abnormality 8 HP:0012482 HP:0012482 Frontal venous angioma Phenotypic_abnormality 8 HP:0012493 HP:0012493 Middle cerebral artery stenosis Phenotypic_abnormality 8 HP:0012494 HP:0012494 Anterior cerebral artery stenosis Phenotypic_abnormality 8 HP:0012495 HP:0012495 Posterior cerebral artery stenosis Phenotypic_abnormality 8 HP:0012519 HP:0012519 Hypoplastic posterior communicating artery Phenotypic_abnormality 8 HP:0012521 HP:0012521 Optic nerve aplasia Phenotypic_abnormality 8 HP:0012551 HP:0012551 Absent neutrophil specific granules Phenotypic_abnormality 8 HP:0012552 HP:0012552 Increased neutrophil nuclear projections Phenotypic_abnormality 8 HP:0012557 HP:0012557 EEG with centrotemporal focal spike waves Phenotypic_abnormality 8 HP:0012568 HP:0012568 Lower eyelid edema Phenotypic_abnormality 8 HP:0012571 HP:0012571 Ureter fissus Phenotypic_abnormality 8 HP:0012572 HP:0012572 Ureter duplex Phenotypic_abnormality 8 HP:0012576 HP:0012576 C3 nephropathy Phenotypic_abnormality 8 HP:0012577 HP:0012577 Thin glomerular basement membrane Phenotypic_abnormality 8 HP:0012580 HP:0012580 Calcium phosphate nephrolithiasis Phenotypic_abnormality 8 HP:0012583 HP:0012583 Unilateral renal hypoplasia Phenotypic_abnormality 8 HP:0012584 HP:0012584 Bilateral renal hypoplasia Phenotypic_abnormality 8 HP:0012623 HP:0012623 Stage 1 chronic kidney disease Phenotypic_abnormality 8 HP:0012624 HP:0012624 Stage 2 chronic kidney disease Phenotypic_abnormality 8 HP:0012625 HP:0012625 Stage 3 chronic kidney disease Phenotypic_abnormality 8 HP:0012626 HP:0012626 Stage 4 chronic kidney disease Phenotypic_abnormality 8 HP:0012636 HP:0012636 Retinal vein occlusion Phenotypic_abnormality 8 HP:0012679 HP:0012679 Widened interpedicular distance Phenotypic_abnormality 8 HP:0012693 HP:0012693 Abnormal thalamic size Phenotypic_abnormality 8 HP:0012696 HP:0012696 Abnormal thalamic MRI signal intensity Phenotypic_abnormality 8 HP:0012701 HP:0012701 Bowel urgency Phenotypic_abnormality 8 HP:0012702 HP:0012702 Tenesmus Phenotypic_abnormality 8 HP:0012724 HP:0012724 Upper eyelid edema Phenotypic_abnormality 8 HP:0012730 HP:0012730 Aglossia Phenotypic_abnormality 8 HP:0012738 HP:0012738 Agenesis of canine Phenotypic_abnormality 8 HP:0012741 HP:0012741 Unilateral cryptorchidism Phenotypic_abnormality 8 HP:0012744 HP:0012744 Femoral aplasia Phenotypic_abnormality 8 HP:0012745 HP:0012745 Short palpebral fissure Phenotypic_abnormality 8 HP:0012778 HP:0012778 Retinal astrocytic hamartoma Phenotypic_abnormality 8 HP:0012788 HP:0012788 Reticulate pigmentation of oral mucosa Phenotypic_abnormality 8 HP:0012792 HP:0012792 Absent ossification of thoracic vertebral bodies Phenotypic_abnormality 8 HP:0012796 HP:0012796 Increased cup-to-disc ratio Phenotypic_abnormality 8 HP:0012800 HP:0012800 Accessory cranial suture Phenotypic_abnormality 8 HP:0100014 HP:0100014 Epiretinal membrane Phenotypic_abnormality 8 HP:0100018 HP:0100018 Nuclear cataract Phenotypic_abnormality 8 HP:0100019 HP:0100019 Cortical cataract Phenotypic_abnormality 8 HP:0100020 HP:0100020 Posterior capsular cataract Phenotypic_abnormality 8 HP:0100237 HP:0100237 Proximal symphalangism (feet) Phenotypic_abnormality 8 HP:0100273 HP:0100273 Neoplasm of the colon Phenotypic_abnormality 8 HP:0100281 HP:0100281 Chronic colitis Phenotypic_abnormality 8 HP:0100282 HP:0100282 Acute colitis Phenotypic_abnormality 8 HP:0100315 HP:0100315 Lewy bodies Phenotypic_abnormality 8 HP:0100316 HP:0100316 Hirano bodies Phenotypic_abnormality 8 HP:0100317 HP:0100317 Agyrophilic inclusion bodies Phenotypic_abnormality 8 HP:0100318 HP:0100318 Lafora bodies Phenotypic_abnormality 8 HP:0100319 HP:0100319 Cerebral hyaline bodies Phenotypic_abnormality 8 HP:0100320 HP:0100320 Rosenthal fibres Phenotypic_abnormality 8 HP:0100321 HP:0100321 Abnormality of the dentate nucleus Phenotypic_abnormality 8 HP:0100335 HP:0100335 Non-midline cleft lip Phenotypic_abnormality 8 HP:0100339 HP:0100339 Abnormality of the os naviculare pedis Phenotypic_abnormality 8 HP:0100498 HP:0100498 Deviation of toes Phenotypic_abnormality 8 HP:0100501 HP:0100501 Recurrent bronchiolitis Phenotypic_abnormality 8 HP:0100535 HP:0100535 Tibiofibular diastasis Phenotypic_abnormality 8 HP:0100588 HP:0100588 Paraphimosis Phenotypic_abnormality 8 HP:0100611 HP:0100611 Multiple glomerular cysts Phenotypic_abnormality 8 HP:0100616 HP:0100616 Testicular teratoma Phenotypic_abnormality 8 HP:0100617 HP:0100617 Testicular seminoma Phenotypic_abnormality 8 HP:0100618 HP:0100618 Leydig cell neoplasia Phenotypic_abnormality 8 HP:0100619 HP:0100619 Sertoli cell neoplasm Phenotypic_abnormality 8 HP:0100621 HP:0100621 Dysgerminoma Phenotypic_abnormality 8 HP:0100624 HP:0100624 Corpus cavernosum sclerosis Phenotypic_abnormality 8 HP:0100654 HP:0100654 Retrobulbar optic neuritis Phenotypic_abnormality 8 HP:0100673 HP:0100673 Vaginal hydrocele Phenotypic_abnormality 8 HP:0100674 HP:0100674 Vaginal hematocele Phenotypic_abnormality 8 HP:0100675 HP:0100675 Vaginal pyocele Phenotypic_abnormality 8 HP:0100676 HP:0100676 Vaginal lymphocele Phenotypic_abnormality 8 HP:0100677 HP:0100677 Vaginal varicocele Phenotypic_abnormality 8 HP:0100690 HP:0100690 Mosaic central corneal dystrophy Phenotypic_abnormality 8 HP:0100694 HP:0100694 Tibial torsion Phenotypic_abnormality 8 HP:0100717 HP:0100717 Abnormality of the cementum Phenotypic_abnormality 8 HP:0100743 HP:0100743 Neoplasm of the rectum Phenotypic_abnormality 8 HP:0100744 HP:0100744 Abnormality of the humeroradial joint Phenotypic_abnormality 8 HP:0100745 HP:0100745 Abnormality of the humeroulnar joint Phenotypic_abnormality 8 HP:0100789 HP:0100789 Torus palatinus Phenotypic_abnormality 8 HP:0100807 HP:0100807 Long fingers Phenotypic_abnormality 8 HP:0100820 HP:0100820 Glomerulopathy Phenotypic_abnormality 8 HP:0100822 HP:0100822 Rectocele Phenotypic_abnormality 8 HP:0100843 HP:0100843 Glioblastoma Phenotypic_abnormality 8 HP:0100856 HP:0100856 Poorly ossified vertebrae Phenotypic_abnormality 8 HP:0100867 HP:0100867 Duodenal stenosis Phenotypic_abnormality 8 HP:0100875 HP:0100875 Hemimacroglossia Phenotypic_abnormality 8 HP:0100890 HP:0100890 Cyst of the ductus choledochus Phenotypic_abnormality 8 HP:0100896 HP:0100896 Rectal polyposis Phenotypic_abnormality 8 HP:0100954 HP:0100954 Open operculum Phenotypic_abnormality 8 HP:0100961 HP:0100961 Enlarged hippocampus Phenotypic_abnormality 8 HP:0200053 HP:0200053 Hemihypotrophy of lower limb Phenotypic_abnormality 8 HP:0200055 HP:0200055 Small hand Phenotypic_abnormality 8 HP:0200063 HP:0200063 Colorectal polyps Phenotypic_abnormality 8 HP:0200065 HP:0200065 Choroidoretinal degeneration Phenotypic_abnormality 8 HP:0200070 HP:0200070 Peripheral retinal atrophy Phenotypic_abnormality 8 HP:0200083 HP:0200083 Severe limb shortening Phenotypic_abnormality 8 HP:0200109 HP:0200109 Absent/shortened outer dynein arms Phenotypic_abnormality 8 HP:0009370 HP:0009370 Type A brachydactyly Phenotypic_abnormality 8 HP:0009373 HP:0009373 Type C brachydactyly Phenotypic_abnormality 8 HP:0009443 HP:0009443 Osteolytic defects of the phalanges of the 3rd finger Phenotypic_abnormality 8 HP:0009485 HP:0009485 Radial deviation of the hand or of fingers of the hand Phenotypic_abnormality 8 HP:0009550 HP:0009550 Osteolytic defects of the phalanges of the 2nd finger Phenotypic_abnormality 8 HP:0009654 HP:0009654 Osteolytic defect of thumb phalanx Phenotypic_abnormality 8 HP:0009710 HP:0009710 Chilblain lesions Phenotypic_abnormality 8 HP:0009718 HP:0009718 Subependymal giant-cell astrocytoma Phenotypic_abnormality 8 HP:0009740 HP:0009740 Aplasia of the parotid gland Phenotypic_abnormality 8 HP:0009743 HP:0009743 Distichiasis Phenotypic_abnormality 8 HP:0009761 HP:0009761 Anterior clefting of vertebral bodies Phenotypic_abnormality 8 HP:0009771 HP:0009771 Osteolytic defects of the phalanges of the hand Phenotypic_abnormality 8 HP:0009781 HP:0009781 Lester's sign Phenotypic_abnormality 8 HP:0009787 HP:0009787 Aplasia/Hypoplasia of the quadriceps Phenotypic_abnormality 8 HP:0009804 HP:0009804 Reduced number of teeth Phenotypic_abnormality 8 HP:0009822 HP:0009822 Aplasia involving forearm bones Phenotypic_abnormality 8 HP:0009890 HP:0009890 High anterior hairline Phenotypic_abnormality 8 HP:0009939 HP:0009939 Mandibular aplasia Phenotypic_abnormality 8 HP:0009997 HP:0009997 Duplication of phalanx of hand Phenotypic_abnormality 8 HP:0010009 HP:0010009 Abnormality of the 1st metacarpal Phenotypic_abnormality 8 HP:0010010 HP:0010010 Abnormality of the 2nd metacarpal Phenotypic_abnormality 8 HP:0010011 HP:0010011 Abnormality of the 3rd metacarpal Phenotypic_abnormality 8 HP:0010012 HP:0010012 Abnormality of the 4th metacarpal Phenotypic_abnormality 8 HP:0010013 HP:0010013 Abnormality of the 5th metacarpal Phenotypic_abnormality 8 HP:0010054 HP:0010054 Abnormality of the first metatarsal Phenotypic_abnormality 8 HP:0010112 HP:0010112 Mesoaxial foot polydactyly Phenotypic_abnormality 8 HP:0010160 HP:0010160 Abnormality of the epiphyses of the toes Phenotypic_abnormality 8 HP:0010161 HP:0010161 Abnormality of the phalanges of the toes Phenotypic_abnormality 8 HP:0010171 HP:0010171 Epiphyseal stippling of toe phalanges Phenotypic_abnormality 8 HP:0010232 HP:0010232 Fragmentation of the epiphyses of the phalanges of the hand Phenotypic_abnormality 8 HP:0010233 HP:0010233 Irregular epiphyses of the phalanges of the hand Phenotypic_abnormality 8 HP:0010237 HP:0010237 Epiphyseal stippling of finger phalanges Phenotypic_abnormality 8 HP:0010284 HP:0010284 Intra-oral hyperpigmentation Phenotypic_abnormality 8 HP:0010290 HP:0010290 Short hard palate Phenotypic_abnormality 8 HP:0010299 HP:0010299 Abnormality of dentin Phenotypic_abnormality 8 HP:0010319 HP:0010319 Abnormality of the 2nd toe Phenotypic_abnormality 8 HP:0010320 HP:0010320 Abnormality of the 3rd toe Phenotypic_abnormality 8 HP:0010321 HP:0010321 Abnormality of the 4th toe Phenotypic_abnormality 8 HP:0010322 HP:0010322 Abnormality of the 5th toe Phenotypic_abnormality 8 HP:0010463 HP:0010463 Aplasia of the ovary Phenotypic_abnormality 8 HP:0010469 HP:0010469 Aplasia of the testes Phenotypic_abnormality 8 HP:0010481 HP:0010481 Urethral valve Phenotypic_abnormality 8 HP:0010486 HP:0010486 Abnormality of the hypothenar eminence Phenotypic_abnormality 8 HP:0010492 HP:0010492 Osseous finger syndactyly Phenotypic_abnormality 8 HP:0010500 HP:0010500 Hyperextensibility of the knee Phenotypic_abnormality 8 HP:0010502 HP:0010502 Fibular bowing Phenotypic_abnormality 8 HP:0010503 HP:0010503 Fibular duplication Phenotypic_abnormality 8 HP:0010504 HP:0010504 Increased length of the tibia Phenotypic_abnormality 8 HP:0010508 HP:0010508 Metatarsus valgus Phenotypic_abnormality 8 HP:0010510 HP:0010510 Hypermobility of toe joints Phenotypic_abnormality 8 HP:0010511 HP:0010511 Long toe Phenotypic_abnormality 8 HP:0010537 HP:0010537 Wide cranial sutures Phenotypic_abnormality 8 HP:0010554 HP:0010554 Cutaneous finger syndactyly Phenotypic_abnormality 8 HP:0010559 HP:0010559 Vertical clivus Phenotypic_abnormality 8 HP:0010567 HP:0010567 Y-shaped metatarsals Phenotypic_abnormality 8 HP:0010574 HP:0010574 Abnormality of the epiphysis of the femoral head Phenotypic_abnormality 8 HP:0010590 HP:0010590 Abnormality of the distal femoral epiphysis Phenotypic_abnormality 8 HP:0010594 HP:0010594 Abnormality of the proximal fibular epiphysis Phenotypic_abnormality 8 HP:0010595 HP:0010595 Abnormality of the distal fibular epiphysis Phenotypic_abnormality 8 HP:0010603 HP:0010603 Keratocystic odontogenic tumor Phenotypic_abnormality 8 HP:0010605 HP:0010605 Chalazion Phenotypic_abnormality 8 HP:0010606 HP:0010606 Hordeolum Phenotypic_abnormality 8 HP:0010621 HP:0010621 Cutaneous syndactyly of toes Phenotypic_abnormality 8 HP:0010630 HP:0010630 Abnormality of metatarsal epiphysis Phenotypic_abnormality 8 HP:0010643 HP:0010643 Midnasal atresia Phenotypic_abnormality 8 HP:0010664 HP:0010664 Fusion of the left and right thalami Phenotypic_abnormality 8 HP:0010667 HP:0010667 Aplasia of the maxilla Phenotypic_abnormality 8 HP:0010672 HP:0010672 Abnormality of the third metatarsal bone Phenotypic_abnormality 8 HP:0010676 HP:0010676 Mechanical ileus Phenotypic_abnormality 8 HP:0010690 HP:0010690 Mirror image hand polydactyly Phenotypic_abnormality 8 HP:0010691 HP:0010691 Mirror image foot polydactyly Phenotypic_abnormality 8 HP:0010692 HP:0010692 2-5 finger syndactyly Phenotypic_abnormality 8 HP:0010695 HP:0010695 Sutural cataract Phenotypic_abnormality 8 HP:0010702 HP:0010702 Hypergammaglobulinemia Phenotypic_abnormality 8 HP:0010704 HP:0010704 1-2 finger syndactyly Phenotypic_abnormality 8 HP:0010705 HP:0010705 4-5 finger syndactyly Phenotypic_abnormality 8 HP:0010706 HP:0010706 1-3 finger syndactyly Phenotypic_abnormality 8 HP:0010707 HP:0010707 1-4 finger syndactyly Phenotypic_abnormality 8 HP:0010708 HP:0010708 1-5 finger syndactyly Phenotypic_abnormality 8 HP:0010709 HP:0010709 2-4 finger syndactyly Phenotypic_abnormality 8 HP:0010710 HP:0010710 3-5 finger syndactyly Phenotypic_abnormality 8 HP:0010728 HP:0010728 Aplasia of the retina Phenotypic_abnormality 8 HP:0010729 HP:0010729 Cherry red spot of the macula Phenotypic_abnormality 8 HP:0010749 HP:0010749 Blepharochalasis Phenotypic_abnormality 8 HP:0010752 HP:0010752 Cleft mandible Phenotypic_abnormality 8 HP:0010756 HP:0010756 Aplasia/Hypoplasia of the premaxilla Phenotypic_abnormality 8 HP:0010759 HP:0010759 Premaxillary Prominence Phenotypic_abnormality 8 HP:0010765 HP:0010765 Palmar hyperkeratosis Phenotypic_abnormality 8 HP:0010790 HP:0010790 Hyoplasia of the Leydig cells Phenotypic_abnormality 8 HP:0010791 HP:0010791 Hyperplasia of the Leydig cells Phenotypic_abnormality 8 HP:0010800 HP:0010800 Absent cupid's bow Phenotypic_abnormality 8 HP:0010804 HP:0010804 Tented upper lip vermilion Phenotypic_abnormality 8 HP:0010806 HP:0010806 U-Shaped upper lip vermilion Phenotypic_abnormality 8 HP:0010807 HP:0010807 Open bite Phenotypic_abnormality 8 HP:0010823 HP:0010823 Ridged cranial sutures Phenotypic_abnormality 8 HP:0010847 HP:0010847 EEG with spike-wave complexes (<2.5 Hz) Phenotypic_abnormality 8 HP:0010848 HP:0010848 EEG with spike-wave complexes (2.5-3.5 Hz) Phenotypic_abnormality 8 HP:0010849 HP:0010849 EEG with spike-wave complexes (>3.5 Hz) Phenotypic_abnormality 8 HP:0010853 HP:0010853 EEG with periodic lateralized epileptiform discharges Phenotypic_abnormality 8 HP:0010857 HP:0010857 EEG with periodic abnormalities Phenotypic_abnormality 8 HP:0010921 HP:0010921 Coralliform cataract Phenotypic_abnormality 8 HP:0010941 HP:0010941 Aplasia of the nasal bone Phenotypic_abnormality 8 HP:0010958 HP:0010958 Bilateral renal agenesis Phenotypic_abnormality 8 HP:0011037 HP:0011037 Decreased urine output Phenotypic_abnormality 8 HP:0011044 HP:0011044 Abnormal number of permanent teeth Phenotypic_abnormality 8 HP:0011051 HP:0011051 Agenesis of premolar Phenotypic_abnormality 8 HP:0011054 HP:0011054 Agenesis of molar Phenotypic_abnormality 8 HP:0011058 HP:0011058 Generalized periodontitis Phenotypic_abnormality 8 HP:0011059 HP:0011059 Localized periodontitis Phenotypic_abnormality 8 HP:0011062 HP:0011062 Misalignment of incisors Phenotypic_abnormality 8 HP:0011063 HP:0011063 Abnormality of incisor morphology Phenotypic_abnormality 8 HP:0011064 HP:0011064 Abnormal number of incisors Phenotypic_abnormality 8 HP:0011069 HP:0011069 Increased number of teeth Phenotypic_abnormality 8 HP:0011070 HP:0011070 Abnormality of molar morphology Phenotypic_abnormality 8 HP:0011073 HP:0011073 Abnormality of dental color Phenotypic_abnormality 8 HP:0011080 HP:0011080 Abnormality of premolar morphology Phenotypic_abnormality 8 HP:0011089 HP:0011089 Double tooth Phenotypic_abnormality 8 HP:0011094 HP:0011094 Overbite Phenotypic_abnormality 8 HP:0011095 HP:0011095 Overjet Phenotypic_abnormality 8 HP:0011107 HP:0011107 Recurrent aphthous stomatitis Phenotypic_abnormality 8 HP:0011109 HP:0011109 Chronic sinusitis Phenotypic_abnormality 8 HP:0011132 HP:0011132 Chronic furunculosis Phenotypic_abnormality 8 HP:0011142 HP:0011142 Age-related nuclear cataract Phenotypic_abnormality 8 HP:0011143 HP:0011143 Age-related cortical cataract Phenotypic_abnormality 8 HP:0011144 HP:0011144 Age-related posterior subcapsular cataract Phenotypic_abnormality 8 HP:0011189 HP:0011189 Bilateral multifocal epileptiform discharges Phenotypic_abnormality 8 HP:0011190 HP:0011190 Uni- and bilateral multifocal epileptiform discharges Phenotypic_abnormality 8 HP:0011191 HP:0011191 Unilateral multifocal epileptiform discharges Phenotypic_abnormality 8 HP:0011194 HP:0011194 EEG with series of focal spikes Phenotypic_abnormality 8 HP:0011284 HP:0011284 Short-segment aganglionic megacolon Phenotypic_abnormality 8 HP:0011285 HP:0011285 Long-segment aganglionic megacolon Phenotypic_abnormality 8 HP:0011286 HP:0011286 Total colonic aganglionosis Phenotypic_abnormality 8 HP:0011287 HP:0011287 EEG with occipital sharp slow waves Phenotypic_abnormality 8 HP:0011288 HP:0011288 EEG with parietal sharp slow waves Phenotypic_abnormality 8 HP:0011289 HP:0011289 EEG with temporal sharp slow waves Phenotypic_abnormality 8 HP:0011290 HP:0011290 EEG with frontal sharp slow waves Phenotypic_abnormality 8 HP:0011291 HP:0011291 EEG with central sharp slow waves Phenotypic_abnormality 8 HP:0011292 HP:0011292 EEG with occipital sharp waves Phenotypic_abnormality 8 HP:0011293 HP:0011293 EEG with central sharp waves Phenotypic_abnormality 8 HP:0011294 HP:0011294 EEG with frontal sharp waves Phenotypic_abnormality 8 HP:0011295 HP:0011295 EEG with parietal sharp waves Phenotypic_abnormality 8 HP:0011296 HP:0011296 EEG with temporal sharp waves Phenotypic_abnormality 8 HP:0011301 HP:0011301 Absent foot Phenotypic_abnormality 8 HP:0011302 HP:0011302 Long palm Phenotypic_abnormality 8 HP:0011307 HP:0011307 Splayed toes Phenotypic_abnormality 8 HP:0011308 HP:0011308 Slender toe Phenotypic_abnormality 8 HP:0011309 HP:0011309 Tapered toe Phenotypic_abnormality 8 HP:0011326 HP:0011326 Anterior plagiocephaly Phenotypic_abnormality 8 HP:0011327 HP:0011327 Posterior plagiocephaly Phenotypic_abnormality 8 HP:0011340 HP:0011340 Incomplete cleft of the upper lip Phenotypic_abnormality 8 HP:0011447 HP:0011447 Hyposegmentation of neutrophil nuclei Phenotypic_abnormality 8 HP:0011465 HP:0011465 Duodenal aganglionosis Phenotypic_abnormality 8 HP:0011467 HP:0011467 Absent gallbladder Phenotypic_abnormality 8 HP:0011473 HP:0011473 Villous atrophy Phenotypic_abnormality 8 HP:0011493 HP:0011493 Central opacification of the cornea Phenotypic_abnormality 8 HP:0011494 HP:0011494 Generalized opacification of the cornea Phenotypic_abnormality 8 HP:0011498 HP:0011498 Partial aniridia Phenotypic_abnormality 8 HP:0011499 HP:0011499 Mydriasis Phenotypic_abnormality 8 HP:0011501 HP:0011501 Anterior lenticonus Phenotypic_abnormality 8 HP:0011502 HP:0011502 Posterior lenticonus Phenotypic_abnormality 8 HP:0011505 HP:0011505 Cystoid macular edema Phenotypic_abnormality 8 HP:0011506 HP:0011506 Choroidal neovascularization of the macula Phenotypic_abnormality 8 HP:0011507 HP:0011507 Macular flecks Phenotypic_abnormality 8 HP:0011508 HP:0011508 Macular hole Phenotypic_abnormality 8 HP:0011510 HP:0011510 Drusen Phenotypic_abnormality 8 HP:0011511 HP:0011511 Macular schisis Phenotypic_abnormality 8 HP:0011512 HP:0011512 Hyperpigmentation of the fundus Phenotypic_abnormality 8 HP:0011530 HP:0011530 Retinal hole Phenotypic_abnormality 8 HP:0011532 HP:0011532 Subretinal exudate Phenotypic_abnormality 8 HP:0011558 HP:0011558 Double inlet to single ventricle with common atrioventricular orifice Phenotypic_abnormality 8 HP:0011559 HP:0011559 Double inlet to single ventricle with two atrioventricular valves Phenotypic_abnormality 8 HP:0011594 HP:0011594 Right aortic arch with retroesophageal diverticulum of Kommerell Phenotypic_abnormality 8 HP:0011597 HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus Phenotypic_abnormality 8 HP:0011598 HP:0011598 Right aortic arch with retroesophageal left subclavian artery Phenotypic_abnormality 8 HP:0011624 HP:0011624 Apical muscular ventricular septal defect Phenotypic_abnormality 8 HP:0011625 HP:0011625 Multiple muscular ventricular septal defects Phenotypic_abnormality 8 HP:0011690 HP:0011690 Permanent junctional reciprocating tachycardia Phenotypic_abnormality 8 HP:0011691 HP:0011691 Supraventricular tachycardia with a concealed accessory pathway on the left free wall Phenotypic_abnormality 8 HP:0011692 HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the right free wall Phenotypic_abnormality 8 HP:0011693 HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septum Phenotypic_abnormality 8 HP:0011696 HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wall Phenotypic_abnormality 8 HP:0011697 HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wall Phenotypic_abnormality 8 HP:0011698 HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septum Phenotypic_abnormality 8 HP:0011795 HP:0011795 Intralobar nephroblastomatosis Phenotypic_abnormality 8 HP:0011796 HP:0011796 Perilobar nephroblastomatosis Phenotypic_abnormality 8 HP:0011797 HP:0011797 Papillary renal cell carcinoma type 1 Phenotypic_abnormality 8 HP:0011801 HP:0011801 Enlargement of parotid gland Phenotypic_abnormality 8 HP:0011802 HP:0011802 Hamartoma of tongue Phenotypic_abnormality 8 HP:0011818 HP:0011818 Nasofrontal encephalocele Phenotypic_abnormality 8 HP:0011834 HP:0011834 Moyamoya phenomenon Phenotypic_abnormality 8 HP:0011850 HP:0011850 Parotitis Phenotypic_abnormality 8 HP:0011859 HP:0011859 Punctate keratitis Phenotypic_abnormality 8 HP:0011897 HP:0011897 Neutrophillia Phenotypic_abnormality 8 HP:0011911 HP:0011911 Abnormality of metacarpophalangeal joint Phenotypic_abnormality 8 HP:0011916 HP:0011916 Toe extensor amyotrophy Phenotypic_abnormality 8 HP:0011940 HP:0011940 Anterior wedging of T12 Phenotypic_abnormality 8 HP:0011941 HP:0011941 Anterior wedging of L2 Phenotypic_abnormality 8 HP:0011980 HP:0011980 Cholesterol gallstones Phenotypic_abnormality 8 HP:0011981 HP:0011981 Pigment gallstones Phenotypic_abnormality 8 HP:0011984 HP:0011984 Atretic gallbladder Phenotypic_abnormality 8 HP:0011993 HP:0011993 Impaired neutrophil bactericidal activity Phenotypic_abnormality 8 HP:0012005 HP:0012005 Deja vu Phenotypic_abnormality 8 HP:0012006 HP:0012006 Jamais vu Phenotypic_abnormality 8 HP:0012009 HP:0012009 EEG with central focal spike waves Phenotypic_abnormality 8 HP:0012010 HP:0012010 EEG with frontal focal spike waves Phenotypic_abnormality 8 HP:0012011 HP:0012011 EEG with occipital focal spike waves Phenotypic_abnormality 8 HP:0012012 HP:0012012 EEG with parietal focal spike waves Phenotypic_abnormality 8 HP:0012013 HP:0012013 EEG with temporal focal spike waves Phenotypic_abnormality 8 HP:0012014 HP:0012014 EEG with central focal spikes Phenotypic_abnormality 8 HP:0012015 HP:0012015 EEG with frontal focal spikes Phenotypic_abnormality 8 HP:0012016 HP:0012016 EEG with occipital focal spikes Phenotypic_abnormality 8 HP:0012017 HP:0012017 EEG with parietal focal spikes Phenotypic_abnormality 8 HP:0012018 HP:0012018 EEG with temporal focal spikes Phenotypic_abnormality 8 HP:0012038 HP:0012038 Corneal guttata Phenotypic_abnormality 8 HP:0012039 HP:0012039 Descemet Membrane Folds Phenotypic_abnormality 8 HP:0012074 HP:0012074 Tonic pupil Phenotypic_abnormality 8 HP:0012081 HP:0012081 Enlarged cerebellum Phenotypic_abnormality 8 HP:0012083 HP:0012083 Ubiquitin-positive cerebral inclusion bodies Phenotypic_abnormality 8 HP:0012106 HP:0012106 Rhizomelic leg shortening Phenotypic_abnormality 8 HP:0012107 HP:0012107 Increased fibular diameter Phenotypic_abnormality 8 HP:0012110 HP:0012110 Hypoplasia of the pons Phenotypic_abnormality 8 HP:0012114 HP:0012114 Endometrial carcinoma Phenotypic_abnormality 8 HP:0012120 HP:0012120 Methylmalonic aciduria Phenotypic_abnormality 8 HP:0012125 HP:0012125 Prostate cancer Phenotypic_abnormality 8 HP:0012157 HP:0012157 Subcortical cerebral atrophy Phenotypic_abnormality 8 HP:0012170 HP:0012170 Nail-biting Phenotypic_abnormality 8 HP:0012183 HP:0012183 Hyperplastic colonic polyposis Phenotypic_abnormality 8 HP:0012194 HP:0012194 Episodic hemiplegia Phenotypic_abnormality 8 HP:0012197 HP:0012197 Insulinoma Phenotypic_abnormality 8 HP:0012198 HP:0012198 Juvenile colonic polyposis Phenotypic_abnormality 8 HP:0012226 HP:0012226 Ovarian teratoma Phenotypic_abnormality 8 HP:0012230 HP:0012230 Rhegmatogenous retinal detachment Phenotypic_abnormality 8 HP:0012231 HP:0012231 Exudative retinal detachment Phenotypic_abnormality 8 HP:0012235 HP:0012235 Drug-induced agranulocytosis Phenotypic_abnormality 8 HP:0012259 HP:0012259 Absent inner and outer dynein arms Phenotypic_abnormality 8 HP:0012307 HP:0012307 Spatulate ribs Phenotypic_abnormality 8 HP:0012319 HP:0012319 Absent pigmentation of the abdomen Phenotypic_abnormality 8 HP:0012320 HP:0012320 Absent pigmentation of the limbs Phenotypic_abnormality 8 HP:0012321 HP:0012321 D-2-hydroxyglutaric aciduria Phenotypic_abnormality 8 HP:0012328 HP:0012328 Cementoma Phenotypic_abnormality 8 HP:0012341 HP:0012341 Microprolactinoma Phenotypic_abnormality 8 HP:0012342 HP:0012342 Macroprolactinoma Phenotypic_abnormality 8 HP:0012367 HP:0012367 Extra fontanelles Phenotypic_abnormality 8 HP:0009272 HP:0009272 Aplasia/Hypoplasia of the 4th finger Phenotypic_abnormality 9 HP:0009273 HP:0009273 Deviation of the 4th finger Phenotypic_abnormality 9 HP:0009274 HP:0009274 Joint contracture of the 4th finger Phenotypic_abnormality 9 HP:0009285 HP:0009285 Curved phalanges of the 4th finger Phenotypic_abnormality 9 HP:0009316 HP:0009316 Abnormality of the phalanges of the 3rd finger Phenotypic_abnormality 9 HP:0009317 HP:0009317 Deviation of the 3rd finger Phenotypic_abnormality 9 HP:0009318 HP:0009318 Aplasia/Hypoplasia of the 3rd finger Phenotypic_abnormality 9 HP:0009319 HP:0009319 Joint contracture of the 3rd finger Phenotypic_abnormality 9 HP:0009320 HP:0009320 Abnormality of the epiphyses of the 3rd finger Phenotypic_abnormality 9 HP:0009371 HP:0009371 Type A1 brachydactyly Phenotypic_abnormality 9 HP:0009372 HP:0009372 Type A2 brachydactyly Phenotypic_abnormality 9 HP:0009380 HP:0009380 Aplasia of the fingers Phenotypic_abnormality 9 HP:0009442 HP:0009442 Curved phalanges of the 3rd finger Phenotypic_abnormality 9 HP:0009465 HP:0009465 Ulnar deviation of finger Phenotypic_abnormality 9 HP:0009466 HP:0009466 Radial deviation of finger Phenotypic_abnormality 9 HP:0009468 HP:0009468 Deviation of the 2nd finger Phenotypic_abnormality 9 HP:0009486 HP:0009486 Radial deviation of the hand Phenotypic_abnormality 9 HP:0009487 HP:0009487 Ulnar deviation of the hand Phenotypic_abnormality 9 HP:0009537 HP:0009537 Flexion contracture of the 2nd finger Phenotypic_abnormality 9 HP:0009541 HP:0009541 Abnormality of the phalanges of the 2nd finger Phenotypic_abnormality 9 HP:0009549 HP:0009549 Curved phalanges of the 2nd finger Phenotypic_abnormality 9 HP:0009556 HP:0009556 Absent tibia Phenotypic_abnormality 9 HP:0009599 HP:0009599 Abnormality of thumb epiphysis Phenotypic_abnormality 9 HP:0009600 HP:0009600 Flexion contracture of thumb Phenotypic_abnormality 9 HP:0009601 HP:0009601 Aplasia/Hypoplasia of the thumb Phenotypic_abnormality 9 HP:0009602 HP:0009602 Abnormality of thumb phalanx Phenotypic_abnormality 9 HP:0009603 HP:0009603 Deviation/Displacement of the thumb Phenotypic_abnormality 9 HP:0009609 HP:0009609 Duplication of the 1st metacarpal Phenotypic_abnormality 9 HP:0009653 HP:0009653 Curved thumb phalanx Phenotypic_abnormality 9 HP:0009703 HP:0009703 Synostosis involving the 1st metacarpal Phenotypic_abnormality 9 HP:0009705 HP:0009705 Synostosis involving the 2nd metacarpal Phenotypic_abnormality 9 HP:0009706 HP:0009706 Synostosis involving the 3rd metacarpal Phenotypic_abnormality 9 HP:0009707 HP:0009707 Synostosis involving the 4th metacarpal Phenotypic_abnormality 9 HP:0009708 HP:0009708 Synostosis involving the 5th metacarpal Phenotypic_abnormality 9 HP:0009722 HP:0009722 Dental enamel pits Phenotypic_abnormality 9 HP:0009727 HP:0009727 Achromatic retinal patches Phenotypic_abnormality 9 HP:0009767 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand Phenotypic_abnormality 9 HP:0009768 HP:0009768 Broad phalanges of the hand Phenotypic_abnormality 9 HP:0009769 HP:0009769 Bullet-shaped phalanges of the hand Phenotypic_abnormality 9 HP:0009770 HP:0009770 Curved phalanges of the hand Phenotypic_abnormality 9 HP:0009773 HP:0009773 Symphalangism affecting the phalanges of the hand Phenotypic_abnormality 9 HP:0009774 HP:0009774 Triangular shaped phalanges of the hand Phenotypic_abnormality 9 HP:0009779 HP:0009779 3-4 toe syndactyly Phenotypic_abnormality 9 HP:0009782 HP:0009782 Aplasia/Hypoplasia of the biceps Phenotypic_abnormality 9 HP:0009784 HP:0009784 Aplasia/Hypoplasia of the triceps Phenotypic_abnormality 9 HP:0009832 HP:0009832 Abnormality of the distal phalanx of finger Phenotypic_abnormality 9 HP:0009833 HP:0009833 Abnormality of the middle phalanges of the hand Phenotypic_abnormality 9 HP:0009834 HP:0009834 Abnormality of the proximal phalanges of the hand Phenotypic_abnormality 9 HP:0009879 HP:0009879 Cortical gyral simplification Phenotypic_abnormality 9 HP:0009920 HP:0009920 Nevus of Ota Phenotypic_abnormality 9 HP:0009946 HP:0009946 Polydactyly affecting the 2nd finger Phenotypic_abnormality 9 HP:0009958 HP:0009958 Polydactyly affecting the 3rd finger Phenotypic_abnormality 9 HP:0009971 HP:0009971 Polydactyly affecting the 4th finger Phenotypic_abnormality 9 HP:0010014 HP:0010014 Abnormality of the epiphysis of the 1st metacarpal Phenotypic_abnormality 9 HP:0010026 HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal Phenotypic_abnormality 9 HP:0010027 HP:0010027 Broad 1st metacarpal Phenotypic_abnormality 9 HP:0010028 HP:0010028 Bullet-shaped 1st metacarpal Phenotypic_abnormality 9 HP:0010029 HP:0010029 Curved 1st metacarpal Phenotypic_abnormality 9 HP:0010030 HP:0010030 Osteolytic defects of the 1st metacarpal Phenotypic_abnormality 9 HP:0010031 HP:0010031 Patchy sclerosis of the 1st metacarpal Phenotypic_abnormality 9 HP:0010033 HP:0010033 Triangular shaped 1st metacarpal Phenotypic_abnormality 9 HP:0010036 HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal Phenotypic_abnormality 9 HP:0010039 HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal Phenotypic_abnormality 9 HP:0010042 HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal Phenotypic_abnormality 9 HP:0010045 HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal Phenotypic_abnormality 9 HP:0010051 HP:0010051 Deviation/Displacement of the hallux Phenotypic_abnormality 9 HP:0010055 HP:0010055 Broad hallux Phenotypic_abnormality 9 HP:0010056 HP:0010056 Abnormality of the epiphyses of the hallux Phenotypic_abnormality 9 HP:0010057 HP:0010057 Abnormality of the phalanges of the hallux Phenotypic_abnormality 9 HP:0010067 HP:0010067 Aplasia/hypoplasia of the 1st metatarsal Phenotypic_abnormality 9 HP:0010068 HP:0010068 Broad first metatarsal Phenotypic_abnormality 9 HP:0010069 HP:0010069 Bullet-shaped 1st metatarsal Phenotypic_abnormality 9 HP:0010070 HP:0010070 Curved 1st metatarsal Phenotypic_abnormality 9 HP:0010071 HP:0010071 Osteolytic defects of the 1st metatarsal Phenotypic_abnormality 9 HP:0010072 HP:0010072 Patchy sclerosis of the 1st metatarsal Phenotypic_abnormality 9 HP:0010073 HP:0010073 Synostosis involving the 1st metatarsal Phenotypic_abnormality 9 HP:0010074 HP:0010074 Triangular shaped 1st metatarsal Phenotypic_abnormality 9 HP:0010075 HP:0010075 Duplication of the 1st metatarsal Phenotypic_abnormality 9 HP:0010151 HP:0010151 Cone-shaped epiphysis of the 1st metatarsal Phenotypic_abnormality 9 HP:0010173 HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes Phenotypic_abnormality 9 HP:0010174 HP:0010174 Broad phalanx of the toes Phenotypic_abnormality 9 HP:0010175 HP:0010175 Bullet-shaped toe phalanx Phenotypic_abnormality 9 HP:0010176 HP:0010176 Curved toe phalanx Phenotypic_abnormality 9 HP:0010177 HP:0010177 Osteolytic defects of the phalanges of the toes Phenotypic_abnormality 9 HP:0010179 HP:0010179 Symphalangism affecting the phalanges of the toes Phenotypic_abnormality 9 HP:0010180 HP:0010180 Triangular shaped phalanges of the toes Phenotypic_abnormality 9 HP:0010181 HP:0010181 Duplication of phalanx of toe Phenotypic_abnormality 9 HP:0010182 HP:0010182 Abnormality of the distal phalanges of the toes Phenotypic_abnormality 9 HP:0010183 HP:0010183 Abnormality of the middle phalanges of the toes Phenotypic_abnormality 9 HP:0010184 HP:0010184 Abnormality of toe proximal phalanx Phenotypic_abnormality 9 HP:0010212 HP:0010212 Flexion contracture of the hallux Phenotypic_abnormality 9 HP:0010220 HP:0010220 Abnormality of the epiphysis of the 2nd metacarpal Phenotypic_abnormality 9 HP:0010222 HP:0010222 Abnormality of the epiphysis of the 3rd metacarpal Phenotypic_abnormality 9 HP:0010224 HP:0010224 Abnormality of the epiphysis of the 4th metacarpal Phenotypic_abnormality 9 HP:0010226 HP:0010226 Abnormality of the epiphysis of the 5th metacarpal Phenotypic_abnormality 9 HP:0010235 HP:0010235 Pseudoepiphyses of the phalanges of the hand Phenotypic_abnormality 9 HP:0010293 HP:0010293 Aplasia/Hypoplasia of the uvula Phenotypic_abnormality 9 HP:0010323 HP:0010323 Abnormality of the epiphyses of the 2nd toe Phenotypic_abnormality 9 HP:0010324 HP:0010324 Abnormality of phalanx of the 2nd toe Phenotypic_abnormality 9 HP:0010325 HP:0010325 Aplasia/Hypoplasia of the 2nd toe Phenotypic_abnormality 9 HP:0010326 HP:0010326 Deviation/Displacement of the 2nd toe Phenotypic_abnormality 9 HP:0010327 HP:0010327 Flexion contracture of the 2nd toe Phenotypic_abnormality 9 HP:0010328 HP:0010328 Polydactyly affecting the 2nd toe Phenotypic_abnormality 9 HP:0010329 HP:0010329 Abnormality of the epiphyses of the 3rd toe Phenotypic_abnormality 9 HP:0010330 HP:0010330 Abnormality of the phalanges of the 3rd toe Phenotypic_abnormality 9 HP:0010331 HP:0010331 Aplasia/Hypoplasia of the 3rd toe Phenotypic_abnormality 9 HP:0010332 HP:0010332 Deviation/Displacement of the 3rd toe Phenotypic_abnormality 9 HP:0010333 HP:0010333 Flexion contracture of 3rd toe Phenotypic_abnormality 9 HP:0010334 HP:0010334 Polydactyly affecting the 3rd toe Phenotypic_abnormality 9 HP:0010335 HP:0010335 Abnormality of the epiphyses of the 4th toe Phenotypic_abnormality 9 HP:0010336 HP:0010336 Abnormality of the phalanges of the 4th toe Phenotypic_abnormality 9 HP:0010337 HP:0010337 Aplasia/Hypoplasia of the 4th toe Phenotypic_abnormality 9 HP:0010338 HP:0010338 Deviation/Displacement of the 4th toe Phenotypic_abnormality 9 HP:0010339 HP:0010339 Flexion contracture of the 4th toe Phenotypic_abnormality 9 HP:0010340 HP:0010340 Polydactyly affecting the 4th toe Phenotypic_abnormality 9 HP:0010341 HP:0010341 Abnormality of the epiphyses of the 5th toe Phenotypic_abnormality 9 HP:0010342 HP:0010342 Abnormality of the phalanges of the 5th toe Phenotypic_abnormality 9 HP:0010343 HP:0010343 Aplasia/Hypoplasia of the 5th toe Phenotypic_abnormality 9 HP:0010344 HP:0010344 Deviation/Displacement of the 5th toe Phenotypic_abnormality 9 HP:0010345 HP:0010345 Flexion contracture of the 5th toe Phenotypic_abnormality 9 HP:0010440 HP:0010440 Ectopic accesory toe-like appendage Phenotypic_abnormality 9 HP:0010464 HP:0010464 Streak ovary Phenotypic_abnormality 9 HP:0010487 HP:0010487 Small hypothenar eminence Phenotypic_abnormality 9 HP:0010490 HP:0010490 Abnormality of the palmar creases Phenotypic_abnormality 9 HP:0010493 HP:0010493 Long metacarpals Phenotypic_abnormality 9 HP:0010498 HP:0010498 Bipartite patella Phenotypic_abnormality 9 HP:0010499 HP:0010499 Patellar subluxation Phenotypic_abnormality 9 HP:0010509 HP:0010509 Aplasia of the tarsal bones Phenotypic_abnormality 9 HP:0010557 HP:0010557 Overlapping fingers Phenotypic_abnormality 9 HP:0010575 HP:0010575 Dysplasia of the femoral head Phenotypic_abnormality 9 HP:0010591 HP:0010591 Abnormality of the proximal tibial epiphysis Phenotypic_abnormality 9 HP:0010592 HP:0010592 Abnormality of the distal tibial epiphysis Phenotypic_abnormality 9 HP:0010596 HP:0010596 Abnormality of the proximal radial epiphysis Phenotypic_abnormality 9 HP:0010597 HP:0010597 Abnormality of the distal radial epiphysis Phenotypic_abnormality 9 HP:0010598 HP:0010598 Abnormality of the proximal humeral epiphysis Phenotypic_abnormality 9 HP:0010599 HP:0010599 Abnormality of the distal humeral epiphysis Phenotypic_abnormality 9 HP:0010600 HP:0010600 Abnormality of the distal ulnar epiphysis Phenotypic_abnormality 9 HP:0010601 HP:0010601 Abnormality of the proximal ulnar epiphysis Phenotypic_abnormality 9 HP:0010607 HP:0010607 Hordeolum externum Phenotypic_abnormality 9 HP:0010608 HP:0010608 Hordeolum internum Phenotypic_abnormality 9 HP:0010650 HP:0010650 Premaxillary underdevelopment Phenotypic_abnormality 9 HP:0010666 HP:0010666 Hypoplasia of the anterior nasal spine Phenotypic_abnormality 9 HP:0010693 HP:0010693 Pulverulent Cataract Phenotypic_abnormality 9 HP:0010694 HP:0010694 Lamellar pulverulent cataract Phenotypic_abnormality 9 HP:0010697 HP:0010697 Anterior pyramidal cataract Phenotypic_abnormality 9 HP:0010698 HP:0010698 Nuclear pulverulent cataract Phenotypic_abnormality 9 HP:0010699 HP:0010699 Triangular nuclear cataract Phenotypic_abnormality 9 HP:0010711 HP:0010711 1-2 toe syndactyly Phenotypic_abnormality 9 HP:0010712 HP:0010712 1-4 toe syndactyly Phenotypic_abnormality 9 HP:0010713 HP:0010713 1-5 toe syndactyly Phenotypic_abnormality 9 HP:0010714 HP:0010714 2-4 toe syndactyly Phenotypic_abnormality 9 HP:0010715 HP:0010715 2-5 toe syndactyly Phenotypic_abnormality 9 HP:0010716 HP:0010716 3-5 toe syndactyly Phenotypic_abnormality 9 HP:0010717 HP:0010717 Osseous syndactyly of toes Phenotypic_abnormality 9 HP:0010744 HP:0010744 Absent metatarsal bone Phenotypic_abnormality 9 HP:0010757 HP:0010757 Aplasia of the premaxilla Phenotypic_abnormality 9 HP:0010760 HP:0010760 Absent toe Phenotypic_abnormality 9 HP:0010809 HP:0010809 Broad uvula Phenotypic_abnormality 9 HP:0010810 HP:0010810 Long uvula Phenotypic_abnormality 9 HP:0010811 HP:0010811 Narrow uvula Phenotypic_abnormality 9 HP:0010856 HP:0010856 EEG with periodic complexes Phenotypic_abnormality 9 HP:0010867 HP:0010867 Dyssynergia Phenotypic_abnormality 9 HP:0010923 HP:0010923 Anterior subcapsular cataract Phenotypic_abnormality 9 HP:0010924 HP:0010924 Posterior cortical cataract Phenotypic_abnormality 9 HP:0010925 HP:0010925 Nuclear punctate cataract Phenotypic_abnormality 9 HP:0010926 HP:0010926 Aculeiform cataract Phenotypic_abnormality 9 HP:0010957 HP:0010957 Congenital posterior urethral valve Phenotypic_abnormality 9 HP:0010994 HP:0010994 Abnormality of the striatum Phenotypic_abnormality 9 HP:0011065 HP:0011065 Conical incisor Phenotypic_abnormality 9 HP:0011067 HP:0011067 Mesiodens Phenotypic_abnormality 9 HP:0011071 HP:0011071 Abnormality of permanent molar morphology Phenotypic_abnormality 9 HP:0011072 HP:0011072 Rootless teeth Phenotypic_abnormality 9 HP:0011075 HP:0011075 Green teeth Phenotypic_abnormality 9 HP:0011079 HP:0011079 Impacted tooth Phenotypic_abnormality 9 HP:0011081 HP:0011081 Incisor macrodontia Phenotypic_abnormality 9 HP:0011087 HP:0011087 Talon cusp Phenotypic_abnormality 9 HP:0011088 HP:0011088 Dens in dente Phenotypic_abnormality 9 HP:0011090 HP:0011090 Fused teeth Phenotypic_abnormality 9 HP:0011091 HP:0011091 Gemination Phenotypic_abnormality 9 HP:0011092 HP:0011092 Mulberry molar Phenotypic_abnormality 9 HP:0011093 HP:0011093 Molarization of premolar Phenotypic_abnormality 9 HP:0011129 HP:0011129 Bilateral fetal pyelectasis Phenotypic_abnormality 9 HP:0011223 HP:0011223 Metopic depression Phenotypic_abnormality 9 HP:0011299 HP:0011299 Partial absence of finger Phenotypic_abnormality 9 HP:0011300 HP:0011300 Broad fingertip Phenotypic_abnormality 9 HP:0011304 HP:0011304 Broad thumb Phenotypic_abnormality 9 HP:0011324 HP:0011324 Multiple suture craniosynostosis Phenotypic_abnormality 9 HP:0011330 HP:0011330 Metopic synostosis Phenotypic_abnormality 9 HP:0011369 HP:0011369 Mongolian blue spot Phenotypic_abnormality 9 HP:0011451 HP:0011451 Congenital microcephaly Phenotypic_abnormality 9 HP:0011504 HP:0011504 Bull's eye maculopathy Phenotypic_abnormality 9 HP:0011509 HP:0011509 Macular hyperpigmentation Phenotypic_abnormality 9 HP:0011513 HP:0011513 Retinal cavernous angioma Phenotypic_abnormality 9 HP:0011533 HP:0011533 Snowflake retinal degeneration Phenotypic_abnormality 9 HP:0011645 HP:0011645 Sinus of Valsalva aneurysm Phenotypic_abnormality 9 HP:0011819 HP:0011819 Submucous cleft soft palate Phenotypic_abnormality 9 HP:0011836 HP:0011836 Delayed talus ossification Phenotypic_abnormality 9 HP:0011867 HP:0011867 Abnormality of the wing of the ilium Phenotypic_abnormality 9 HP:0011909 HP:0011909 Flattened metacarpal heads Phenotypic_abnormality 9 HP:0011918 HP:0011918 Fourth toe clinodactyly Phenotypic_abnormality 9 HP:0011930 HP:0011930 Hyperextensible skin of chest Phenotypic_abnormality 9 HP:0011931 HP:0011931 Abnormality of the cerebellar peduncle Phenotypic_abnormality 9 HP:0011939 HP:0011939 3-4 finger cutaneous syndactyly Phenotypic_abnormality 9 HP:0011982 HP:0011982 Black pigment gallstones Phenotypic_abnormality 9 HP:0011983 HP:0011983 Brown pigment gallstones Phenotypic_abnormality 9 HP:0012080 HP:0012080 Cerebellar granular layer atrophy Phenotypic_abnormality 9 HP:0012082 HP:0012082 Cerebellar Purkinje layer atrophy Phenotypic_abnormality 9 HP:0012128 HP:0012128 Basal ganglia necrosis Phenotypic_abnormality 9 HP:0012152 HP:0012152 Foveoschisis Phenotypic_abnormality 9 HP:0012204 HP:0012204 Recurrent vulvovaginal candidiasis Phenotypic_abnormality 9 HP:0012227 HP:0012227 Urethral stricture Phenotypic_abnormality 9 HP:0012283 HP:0012283 Small distal femoral epiphysis Phenotypic_abnormality 9 HP:0004248 HP:0004248 Abnormality of the lunate bone Phenotypic_abnormality 9 HP:0004252 HP:0004252 Abnormality of the trapezium Phenotypic_abnormality 9 HP:0004256 HP:0004256 Abnormality of the trapezoid bone Phenotypic_abnormality 9 HP:0004259 HP:0004259 Abnormality of the hamate bone Phenotypic_abnormality 9 HP:0004262 HP:0004262 Abnormality of the capitate bone Phenotypic_abnormality 9 HP:0004264 HP:0004264 Narrow carpal joint spaces Phenotypic_abnormality 9 HP:0004294 HP:0004294 Subluxation of metacarpal phalangeal joints Phenotypic_abnormality 9 HP:0004315 HP:0004315 IgG deficiency Phenotypic_abnormality 9 HP:0004401 HP:0004401 Meconium ileus Phenotypic_abnormality 9 HP:0004440 HP:0004440 Coronal craniosynostosis Phenotypic_abnormality 9 HP:0004442 HP:0004442 Sagittal craniosynostosis Phenotypic_abnormality 9 HP:0004443 HP:0004443 Lambdoidal craniosynostosis Phenotypic_abnormality 9 HP:0004472 HP:0004472 Mandibular hyperostosis Phenotypic_abnormality 9 HP:0004491 HP:0004491 Large posterior fontanelle Phenotypic_abnormality 9 HP:0004492 HP:0004492 Widely patent fontanelles and sutures Phenotypic_abnormality 9 HP:0004594 HP:0004594 hump-shaped mound of bone in central and posterior portions of vertebral endplate Phenotypic_abnormality 9 HP:0004686 HP:0004686 Short third metatarsal Phenotypic_abnormality 9 HP:0004691 HP:0004691 2-3 toe syndactyly Phenotypic_abnormality 9 HP:0004692 HP:0004692 4-5 toe syndactyly Phenotypic_abnormality 9 HP:0004737 HP:0004737 Global glomerulosclerosis Phenotypic_abnormality 9 HP:0004746 HP:0004746 Dense deposit disease Phenotypic_abnormality 9 HP:0004916 HP:0004916 Generalized distal tubular acidosis Phenotypic_abnormality 9 HP:0004981 HP:0004981 prominent ulnar styloid process Phenotypic_abnormality 9 HP:0005005 HP:0005005 Femoral bowing present at birth, straightening with time Phenotypic_abnormality 9 HP:0005021 HP:0005021 Bilateral elbow dislocations Phenotypic_abnormality 9 HP:0005025 HP:0005025 Hypoplastic distal humeri Phenotypic_abnormality 9 HP:0005037 HP:0005037 Proximal radio-ulnar synostosis Phenotypic_abnormality 9 HP:0005067 HP:0005067 Proximal fibular overgrowth Phenotypic_abnormality 9 HP:0005068 HP:0005068 absent styloid processes Phenotypic_abnormality 9 HP:0005085 HP:0005085 limited knee flexion/extension Phenotypic_abnormality 9 HP:0005090 HP:0005090 Lateral femoral bowing Phenotypic_abnormality 9 HP:0005096 HP:0005096 Distal femoral bowing Phenotypic_abnormality 9 HP:0005190 HP:0005190 Proximal finger joint hyperextensibility Phenotypic_abnormality 9 HP:0005191 HP:0005191 Congenital knee dislocation Phenotypic_abnormality 9 HP:0005411 HP:0005411 Chronic intestinal candidiasis Phenotypic_abnormality 9 HP:0005413 HP:0005413 Increased alpha-globulin Phenotypic_abnormality 9 HP:0005422 HP:0005422 Absence of CD8+ T cells Phenotypic_abnormality 9 HP:0005432 HP:0005432 Transient hypogammaglobulinemia of infancy Phenotypic_abnormality 9 HP:0005472 HP:0005472 Orbital craniosynostosis Phenotypic_abnormality 9 HP:0005479 HP:0005479 IgE deficiency Phenotypic_abnormality 9 HP:0005484 HP:0005484 Postnatal microcephaly Phenotypic_abnormality 9 HP:0005487 HP:0005487 Prominent metopic ridge Phenotypic_abnormality 9 HP:0005495 HP:0005495 Metopic suture patent to nasal root Phenotypic_abnormality 9 HP:0005498 HP:0005498 Midline skin dimples over anterior/posterior fontanelles Phenotypic_abnormality 9 HP:0005512 HP:0005512 Impaired neutrophil killing of staphylococci Phenotypic_abnormality 9 HP:0005549 HP:0005549 Congenital neutropenia Phenotypic_abnormality 9 HP:0005574 HP:0005574 Non-acidotic proximal tubulopathy Phenotypic_abnormality 9 HP:0005576 HP:0005576 Tubulointerstitial fibrosis Phenotypic_abnormality 9 HP:0005588 HP:0005588 Patchy palmoplantar keratoderma Phenotypic_abnormality 9 HP:0005605 HP:0005605 Large cafe-au-lait macules with irregular margins Phenotypic_abnormality 9 HP:0005650 HP:0005650 Cutaneous syndactyly between fingers 2 and 5 Phenotypic_abnormality 9 HP:0005679 HP:0005679 Dupuytren contracture Phenotypic_abnormality 9 HP:0005687 HP:0005687 Deformed humeral heads Phenotypic_abnormality 9 HP:0005689 HP:0005689 Dermatoglyphic ridges abnormal Phenotypic_abnormality 9 HP:0005773 HP:0005773 Short forearm Phenotypic_abnormality 9 HP:0005776 HP:0005776 Carpal bone malsegmentation Phenotypic_abnormality 9 HP:0005792 HP:0005792 Short humerus Phenotypic_abnormality 9 HP:0005824 HP:0005824 Second toe clinodactyly Phenotypic_abnormality 9 HP:0005875 HP:0005875 Increased dermatoglyphic whorls Phenotypic_abnormality 9 HP:0005880 HP:0005880 Metacarpophalangeal synostosis Phenotypic_abnormality 9 HP:0005882 HP:0005882 Dermatoglyphic variants Phenotypic_abnormality 9 HP:0005892 HP:0005892 Proximal tibial and fibular fusion Phenotypic_abnormality 9 HP:0005894 HP:0005894 Double first metacarpals Phenotypic_abnormality 9 HP:0005900 HP:0005900 Fifth metacarpal with ulnar notch Phenotypic_abnormality 9 HP:0006012 HP:0006012 Widened metacarpal shaft Phenotypic_abnormality 9 HP:0006014 HP:0006014 Abnormally shaped carpal bones Phenotypic_abnormality 9 HP:0006042 HP:0006042 Y-shaped metacarpals Phenotypic_abnormality 9 HP:0006048 HP:0006048 Distal widening of metacarpals Phenotypic_abnormality 9 HP:0006070 HP:0006070 Metacarpophalangeal joint contracture Phenotypic_abnormality 9 HP:0006086 HP:0006086 Thin metacarpal cortices Phenotypic_abnormality 9 HP:0006088 HP:0006088 1-5 finger complete cutaneous syndactyly Phenotypic_abnormality 9 HP:0006092 HP:0006092 Malaligned carpal bone Phenotypic_abnormality 9 HP:0006099 HP:0006099 Metacarpophalangeal joint hyperextensibility Phenotypic_abnormality 9 HP:0006108 HP:0006108 Tapered metacarpals Phenotypic_abnormality 9 HP:0006109 HP:0006109 Absent phalangeal crease Phenotypic_abnormality 9 HP:0006119 HP:0006119 Proximal tapering of metacarpals Phenotypic_abnormality 9 HP:0006146 HP:0006146 Broad metacarpal epiphyses Phenotypic_abnormality 9 HP:0006149 HP:0006149 Increased laxity of fingers Phenotypic_abnormality 9 HP:0006155 HP:0006155 Long phalanx of finger Phenotypic_abnormality 9 HP:0006158 HP:0006158 Finger joint hyperextensibility Phenotypic_abnormality 9 HP:0006160 HP:0006160 Irregular metacarpals Phenotypic_abnormality 9 HP:0006165 HP:0006165 Proportionate shortening of all digits Phenotypic_abnormality 9 HP:0006166 HP:0006166 Tubular metacarpal bones Phenotypic_abnormality 9 HP:0006180 HP:0006180 Crowded carpal bones Phenotypic_abnormality 9 HP:0006189 HP:0006189 Prominent interdigital folds Phenotypic_abnormality 9 HP:0006192 HP:0006192 Tapered phalanx of finger Phenotypic_abnormality 9 HP:0006205 HP:0006205 Irregular phalanges Phenotypic_abnormality 9 HP:0006232 HP:0006232 Expanded metacarpals with widened medullary cavities Phenotypic_abnormality 9 HP:0006236 HP:0006236 Slender metacarpals Phenotypic_abnormality 9 HP:0006243 HP:0006243 Phalangeal dislocations Phenotypic_abnormality 9 HP:0006251 HP:0006251 Limited wrist extension Phenotypic_abnormality 9 HP:0006261 HP:0006261 Abnormality of phalangeal joints of the hand Phenotypic_abnormality 9 HP:0006262 HP:0006262 Aplasia/Hypoplasia of the 5th finger Phenotypic_abnormality 9 HP:0006263 HP:0006263 Abnormality of the epiphyses of the 2nd finger Phenotypic_abnormality 9 HP:0006264 HP:0006264 Aplasia/Hypoplasia of the 2nd finger Phenotypic_abnormality 9 HP:0006283 HP:0006283 Multiple unerupted teeth Phenotypic_abnormality 9 HP:0006285 HP:0006285 Hypomineralization of enamel Phenotypic_abnormality 9 HP:0006286 HP:0006286 Yellow-brown discoloration of the teeth Phenotypic_abnormality 9 HP:0006290 HP:0006290 Discolored lateral incisors Phenotypic_abnormality 9 HP:0006297 HP:0006297 Hypoplasia of dental enamel Phenotypic_abnormality 9 HP:0006302 HP:0006302 Dagger-shaped pulp calcifications Phenotypic_abnormality 9 HP:0006304 HP:0006304 Widely-spaced incisors Phenotypic_abnormality 9 HP:0006311 HP:0006311 Generalized microdontia Phenotypic_abnormality 9 HP:0006315 HP:0006315 Single median maxillary incisor Phenotypic_abnormality 9 HP:0006332 HP:0006332 Supernumerary maxillary incisor Phenotypic_abnormality 9 HP:0006333 HP:0006333 Crowded maxillary incisors Phenotypic_abnormality 9 HP:0006336 HP:0006336 Short dental roots Phenotypic_abnormality 9 HP:0006337 HP:0006337 Premature eruption of permanent teeth Phenotypic_abnormality 9 HP:0006338 HP:0006338 Malformation of mandibular premolar Phenotypic_abnormality 9 HP:0006346 HP:0006346 Screwdriver-shaped incisors Phenotypic_abnormality 9 HP:0006349 HP:0006349 Agenesis of permanent teeth Phenotypic_abnormality 9 HP:0006350 HP:0006350 Obliteration of the pulp chamber Phenotypic_abnormality 9 HP:0006352 HP:0006352 Failure of eruption of permanent teeth Phenotypic_abnormality 9 HP:0006353 HP:0006353 Hypoplasia of the tooth germ Phenotypic_abnormality 9 HP:0006358 HP:0006358 Shovel-shaped maxillary central incisors Phenotypic_abnormality 9 HP:0006362 HP:0006362 Varus deformity of humeral neck Phenotypic_abnormality 9 HP:0006369 HP:0006369 Irregular patellae Phenotypic_abnormality 9 HP:0006390 HP:0006390 Anterior tibial bowing Phenotypic_abnormality 9 HP:0006394 HP:0006394 Limited pronation/supination of forearm Phenotypic_abnormality 9 HP:0006397 HP:0006397 Lateral displacement of patellae Phenotypic_abnormality 9 HP:0006398 HP:0006398 Flat distal femoral epiphysis Phenotypic_abnormality 9 HP:0006407 HP:0006407 Irregular distal femoral epiphysis Phenotypic_abnormality 9 HP:0006413 HP:0006413 Broad tibial metaphyses Phenotypic_abnormality 9 HP:0006423 HP:0006423 Peg-like central prominence of distal tibial metaphyses Phenotypic_abnormality 9 HP:0006426 HP:0006426 Rudimentary to absent tibiae Phenotypic_abnormality 9 HP:0006429 HP:0006429 Broad femoral neck Phenotypic_abnormality 9 HP:0006438 HP:0006438 Enlargement of the distal femoral epiphysis Phenotypic_abnormality 9 HP:0006446 HP:0006446 Dysplastic patella Phenotypic_abnormality 9 HP:0006450 HP:0006450 Multicentric ossification of proximal femoral epiphyses Phenotypic_abnormality 9 HP:0006453 HP:0006453 Lateral displacement of the femoral head Phenotypic_abnormality 9 HP:0006485 HP:0006485 Agenesis of incisor Phenotypic_abnormality 9 HP:0006657 HP:0006657 Hypoplasia of first ribs Phenotypic_abnormality 9 HP:0006668 HP:0006668 Twelfth rib hypoplasia Phenotypic_abnormality 9 HP:0006763 HP:0006763 Anal canal squamous carcinoma Phenotypic_abnormality 9 HP:0006784 HP:0006784 Paranasal sinus hypoplasia Phenotypic_abnormality 9 HP:0006812 HP:0006812 White mater abnormalities in the posterior periventricular region Phenotypic_abnormality 9 HP:0006862 HP:0006862 Intermittent cerebellar ataxia Phenotypic_abnormality 9 HP:0006879 HP:0006879 Pontocerebellar atrophy Phenotypic_abnormality 9 HP:0006892 HP:0006892 Frontotemporal cerebral atrophy Phenotypic_abnormality 9 HP:0006893 HP:0006893 Severely dysplastic cerebellum Phenotypic_abnormality 9 HP:0006930 HP:0006930 Frontoparietal cortical dysplasia Phenotypic_abnormality 9 HP:0006955 HP:0006955 Olivopontocerebellar hypoplasia Phenotypic_abnormality 9 HP:0006970 HP:0006970 Periventricular leukomalacia Phenotypic_abnormality 9 HP:0006983 HP:0006983 Slowly progressive spastic quadriparesis Phenotypic_abnormality 9 HP:0007007 HP:0007007 Cavitation of the basal ganglia Phenotypic_abnormality 9 HP:0007020 HP:0007020 Progressive spastic paraplegia Phenotypic_abnormality 9 HP:0007039 HP:0007039 Symmetric lesions of the basal ganglia Phenotypic_abnormality 9 HP:0007042 HP:0007042 Focal white matter lesions Phenotypic_abnormality 9 HP:0007047 HP:0007047 Atrophy of the dentate nucleus Phenotypic_abnormality 9 HP:0007048 HP:0007048 Large basal ganglia Phenotypic_abnormality 9 HP:0007052 HP:0007052 Multifocal cerebral white matter abnormalities Phenotypic_abnormality 9 HP:0007058 HP:0007058 Generalized cerebral atrophy/hypoplasia Phenotypic_abnormality 9 HP:0007103 HP:0007103 Hypointensity of cerebral white matter on MRI Phenotypic_abnormality 9 HP:0007132 HP:0007132 Pallidal degeneration Phenotypic_abnormality 9 HP:0007146 HP:0007146 Bilateral basal ganglia lesions Phenotypic_abnormality 9 HP:0007191 HP:0007191 Tropical spastic paraparesis Phenotypic_abnormality 9 HP:0007199 HP:0007199 Progressive spastic paraparesis Phenotypic_abnormality 9 HP:0007204 HP:0007204 Diffuse white matter abnormalities Phenotypic_abnormality 9 HP:0007227 HP:0007227 Macrogyria Phenotypic_abnormality 9 HP:0007263 HP:0007263 Spinocerebellar atrophy Phenotypic_abnormality 9 HP:0007271 HP:0007271 Occipital myelomeningocele Phenotypic_abnormality 9 HP:0007285 HP:0007285 Facial palsy secondary to cranial hyperostosis Phenotypic_abnormality 9 HP:0007333 HP:0007333 Hypoplasia of the frontal lobes Phenotypic_abnormality 9 HP:0007341 HP:0007341 Diffuse swelling of cerebral white matter Phenotypic_abnormality 9 HP:0007401 HP:0007401 Noninflammatory macular atrophy Phenotypic_abnormality 9 HP:0007404 HP:0007404 Nonepidermolytic palmoplantar keratoderma Phenotypic_abnormality 9 HP:0007412 HP:0007412 Macular hyperpigmented dermopathy Phenotypic_abnormality 9 HP:0007425 HP:0007425 Hyperextensible skin of face Phenotypic_abnormality 9 HP:0007435 HP:0007435 Diffuse palmoplantar keratoderma Phenotypic_abnormality 9 HP:0007465 HP:0007465 Honeycomb palmoplantar keratoderma Phenotypic_abnormality 9 HP:0007475 HP:0007475 Congenital bullous ichthyosiform erythroderma Phenotypic_abnormality 9 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma Phenotypic_abnormality 9 HP:0007494 HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules Phenotypic_abnormality 9 HP:0007516 HP:0007516 Redundant skin on fingers Phenotypic_abnormality 9 HP:0007595 HP:0007595 Redundant skin in infancy Phenotypic_abnormality 9 HP:0007597 HP:0007597 Congenital palmoplantar keratodermia Phenotypic_abnormality 9 HP:0007602 HP:0007602 Complex palmar dermatoglyphic pattern Phenotypic_abnormality 9 HP:0007608 HP:0007608 Abnormal palmar dermal ridges Phenotypic_abnormality 9 HP:0007643 HP:0007643 Peripheral traction retinal detachment Phenotypic_abnormality 9 HP:0007646 HP:0007646 Absent lower eyelashes Phenotypic_abnormality 9 HP:0007649 HP:0007649 Congenital hypertrophy of retinal pigment epithelium Phenotypic_abnormality 9 HP:0007657 HP:0007657 Diffuse nuclear cataract Phenotypic_abnormality 9 HP:0007658 HP:0007658 Large hyperpigmented retinal spots Phenotypic_abnormality 9 HP:0007659 HP:0007659 Decreased retinal pigmentation with dispersion Phenotypic_abnormality 9 HP:0007688 HP:0007688 Absent rod-and cone-mediated responses on ERG Phenotypic_abnormality 9 HP:0007698 HP:0007698 Retinal pigment epithelial atrophy Phenotypic_abnormality 9 HP:0007702 HP:0007702 Pigmentary retinal deposits Phenotypic_abnormality 9 HP:0007708 HP:0007708 Absent inner eyelashes Phenotypic_abnormality 9 HP:0007728 HP:0007728 Congenital miosis Phenotypic_abnormality 9 HP:0007754 HP:0007754 Macular dystrophy Phenotypic_abnormality 9 HP:0007760 HP:0007760 Crystalline corneal dystrophy Phenotypic_abnormality 9 HP:0007776 HP:0007776 Sparse lower eyelashes Phenotypic_abnormality 9 HP:0007782 HP:0007782 Peripheral retinal cone degeneration Phenotypic_abnormality 9 HP:0007783 HP:0007783 Butterfly retinal pigment epithelial dystrophy Phenotypic_abnormality 9 HP:0007786 HP:0007786 Lacunar retinal depigmentation Phenotypic_abnormality 9 HP:0007787 HP:0007787 Posterior subcapsular cataract Phenotypic_abnormality 9 HP:0007793 HP:0007793 Macular retinal pigment epithelial mottling Phenotypic_abnormality 9 HP:0007795 HP:0007795 Anterior cortical cataract Phenotypic_abnormality 9 HP:0007798 HP:0007798 Foveal dystrophy Phenotypic_abnormality 9 HP:0007801 HP:0007801 Fishnet retinal pigmentation Phenotypic_abnormality 9 HP:0007810 HP:0007810 Progressive bifocal chorioretinal atrophy Phenotypic_abnormality 9 HP:0007814 HP:0007814 Salt and pepper retinopathy Phenotypic_abnormality 9 HP:0007827 HP:0007827 Nodular corneal dystrophy Phenotypic_abnormality 9 HP:0007868 HP:0007868 Age-related macular degeneration Phenotypic_abnormality 9 HP:0007881 HP:0007881 Central corneal dystrophy Phenotypic_abnormality 9 HP:0007903 HP:0007903 Pigmented paravenous chorioretinal atrophy Phenotypic_abnormality 9 HP:0007920 HP:0007920 Congenital chorioretinal dystrophy Phenotypic_abnormality 9 HP:0007923 HP:0007923 Foveal hyperplasia Phenotypic_abnormality 9 HP:0007932 HP:0007932 Bilateral congenital mydriasis Phenotypic_abnormality 9 HP:0007946 HP:0007946 Unilateral narrow palpebral fissure Phenotypic_abnormality 9 HP:0007949 HP:0007949 Progressive macular scarring Phenotypic_abnormality 9 HP:0007950 HP:0007950 Peripapillary chorioretinal atrophy Phenotypic_abnormality 9 HP:0007961 HP:0007961 Rarefaction of retinal pigmentation Phenotypic_abnormality 9 HP:0007976 HP:0007976 Cerulean cataract Phenotypic_abnormality 9 HP:0007988 HP:0007988 Macular hypopigmentation Phenotypic_abnormality 9 HP:0008001 HP:0008001 Foveal hyperpigmentation Phenotypic_abnormality 9 HP:0008017 HP:0008017 Depigmented lesions of the retinal pigment epithelium Phenotypic_abnormality 9 HP:0008028 HP:0008028 Cystoid macular degeneration Phenotypic_abnormality 9 HP:0008030 HP:0008030 Retinal arteritis Phenotypic_abnormality 9 HP:0008031 HP:0008031 Posterior Y-sutural cataract Phenotypic_abnormality 9 HP:0008043 HP:0008043 Retinal arteriolar constriction Phenotypic_abnormality 9 HP:0008060 HP:0008060 Aplasia/Hypoplasia of the fovea Phenotypic_abnormality 9 HP:0008076 HP:0008076 Osteoporotic tarsals Phenotypic_abnormality 9 HP:0008087 HP:0008087 Nonossified fifth metatarsal Phenotypic_abnormality 9 HP:0008096 HP:0008096 Medially deviated second toe Phenotypic_abnormality 9 HP:0008103 HP:0008103 Delayed tarsal ossification Phenotypic_abnormality 9 HP:0008108 HP:0008108 Advanced tarsal ossification Phenotypic_abnormality 9 HP:0008112 HP:0008112 Plantar flexion contractures Phenotypic_abnormality 9 HP:0008115 HP:0008115 Third toe clinodactyly Phenotypic_abnormality 9 HP:0008117 HP:0008117 Shortening of the talar neck Phenotypic_abnormality 9 HP:0008124 HP:0008124 Talipes calcaneovarus Phenotypic_abnormality 9 HP:0008127 HP:0008127 Bipartite calcaneus Phenotypic_abnormality 9 HP:0008134 HP:0008134 Irregular tarsal ossification Phenotypic_abnormality 9 HP:0008138 HP:0008138 Equinus calcaneus Phenotypic_abnormality 9 HP:0008142 HP:0008142 Delayed calcaneal ossification Phenotypic_abnormality 9 HP:0008278 HP:0008278 Cerebellar cortical atrophy Phenotypic_abnormality 9 HP:0008362 HP:0008362 Aplasia/Hypoplasia of the hallux Phenotypic_abnormality 9 HP:0008435 HP:0008435 Absent in utero ossification of vertebral bodies Phenotypic_abnormality 9 HP:0008452 HP:0008452 Wafer-thin platyspondyly Phenotypic_abnormality 9 HP:0008457 HP:0008457 Caudal interpedicular narrowing Phenotypic_abnormality 9 HP:0008470 HP:0008470 Lower thoracic interpediculate narrowness Phenotypic_abnormality 9 HP:0008476 HP:0008476 Irregular sclerotic endplates Phenotypic_abnormality 9 HP:0008477 HP:0008477 Poorly ossified cervical vertebrae Phenotypic_abnormality 9 HP:0008484 HP:0008484 Thoracolumbar interpediculate narrowness Phenotypic_abnormality 9 HP:0008491 HP:0008491 Premature anterior fontanel closure Phenotypic_abnormality 9 HP:0008501 HP:0008501 Median cleft lip and palate Phenotypic_abnormality 9 HP:0008511 HP:0008511 Central posterior corneal opacity Phenotypic_abnormality 9 HP:0008653 HP:0008653 Crescentic glomerulonephritis Phenotypic_abnormality 9 HP:0008664 HP:0008664 Urethral sphincter sclerosis Phenotypic_abnormality 9 HP:0008743 HP:0008743 Coronal hypospadias Phenotypic_abnormality 9 HP:0008790 HP:0008790 Widened proximal femoral metaphyses Phenotypic_abnormality 9 HP:0008797 HP:0008797 Early ossification of capital femoral epiphyses Phenotypic_abnormality 9 HP:0008802 HP:0008802 Hypoplasia of the femoral head Phenotypic_abnormality 9 HP:0008804 HP:0008804 Broad femoral head Phenotypic_abnormality 9 HP:0008812 HP:0008812 Flattened femoral head Phenotypic_abnormality 9 HP:0008819 HP:0008819 Narrow femoral neck Phenotypic_abnormality 9 HP:0008820 HP:0008820 Absent ossification of capital femoral epiphysis Phenotypic_abnormality 9 HP:0008826 HP:0008826 Dislocation of the femoral head Phenotypic_abnormality 9 HP:0008829 HP:0008829 Delayed femoral head ossification Phenotypic_abnormality 9 HP:0008835 HP:0008835 Multicentric femoral head ossification Phenotypic_abnormality 9 HP:0008952 HP:0008952 Shoulder muscle hypoplasia Phenotypic_abnormality 9 HP:0008954 HP:0008954 Intrinsic hand muscle atrophy Phenotypic_abnormality 9 HP:0008998 HP:0008998 Pectoralis hypoplasia Phenotypic_abnormality 9 HP:0009007 HP:0009007 Hypoplastic biceps Phenotypic_abnormality 9 HP:0009044 HP:0009044 Hypoplasia of deltoid muscle Phenotypic_abnormality 9 HP:0009050 HP:0009050 Quadriceps muscle atrophy Phenotypic_abnormality 9 HP:0009060 HP:0009060 Scapular muscle atrophy Phenotypic_abnormality 9 HP:0009098 HP:0009098 Chronic oral candidiasis Phenotypic_abnormality 9 HP:0009099 HP:0009099 Median cleft palate Phenotypic_abnormality 9 HP:0009102 HP:0009102 Anterior open-bite malocclusion Phenotypic_abnormality 9 HP:0009152 HP:0009152 Abnormality of the epiphyses of the 5th finger Phenotypic_abnormality 9 HP:0009172 HP:0009172 Abnormality of the phalanges of the 4th finger Phenotypic_abnormality 9 HP:0009174 HP:0009174 Abnormality of the epiphyses of the 4th finger Phenotypic_abnormality 9 HP:0009179 HP:0009179 Deviation of the 5th finger Phenotypic_abnormality 9 HP:0009183 HP:0009183 Joint contracture of the 5th finger Phenotypic_abnormality 9 HP:0009193 HP:0009193 Pseudoepiphyses of the metacarpals Phenotypic_abnormality 9 HP:0000051 HP:0000051 Perineal hypospadias Phenotypic_abnormality 9 HP:0000097 HP:0000097 Focal segmental glomerulosclerosis Phenotypic_abnormality 9 HP:0000193 HP:0000193 Bifid uvula Phenotypic_abnormality 9 HP:0000237 HP:0000237 Small anterior fontanelle Phenotypic_abnormality 9 HP:0000253 HP:0000253 Progressive microcephaly Phenotypic_abnormality 9 HP:0000260 HP:0000260 Wide anterior fontanel Phenotypic_abnormality 9 HP:0000349 HP:0000349 Widow's peak Phenotypic_abnormality 9 HP:0000510 HP:0000510 Retinitis pigmentosa Phenotypic_abnormality 9 HP:0000585 HP:0000585 Band keratopathy Phenotypic_abnormality 9 HP:0000661 HP:0000661 Palpebral fissure narrowing on adduction Phenotypic_abnormality 9 HP:0000668 HP:0000668 Hypodontia Phenotypic_abnormality 9 HP:0000674 HP:0000674 Anodontia Phenotypic_abnormality 9 HP:0000677 HP:0000677 Oligodontia Phenotypic_abnormality 9 HP:0000679 HP:0000679 Taurodontia Phenotypic_abnormality 9 HP:0000683 HP:0000683 Grayish enamel Phenotypic_abnormality 9 HP:0000695 HP:0000695 Natal tooth Phenotypic_abnormality 9 HP:0000696 HP:0000696 Delayed eruption of permanent teeth Phenotypic_abnormality 9 HP:0000703 HP:0000703 Dentinogenesis imperfecta Phenotypic_abnormality 9 HP:0000705 HP:0000705 Amelogenesis imperfecta Phenotypic_abnormality 9 HP:0000793 HP:0000793 Membranoproliferative glomerulonephritis Phenotypic_abnormality 9 HP:0000807 HP:0000807 Glandular hypospadias Phenotypic_abnormality 9 HP:0000878 HP:0000878 11 pairs of ribs Phenotypic_abnormality 9 HP:0000946 HP:0000946 Hypoplastic ilia Phenotypic_abnormality 9 HP:0001003 HP:0001003 Multiple lentigines Phenotypic_abnormality 9 HP:0001042 HP:0001042 High axial triradius Phenotypic_abnormality 9 HP:0001049 HP:0001049 Absent dorsal skin creases over affected joints Phenotypic_abnormality 9 HP:0001084 HP:0001084 Corneal arcus Phenotypic_abnormality 9 HP:0001097 HP:0001097 Keratoconjunctivitis sicca Phenotypic_abnormality 9 HP:0001104 HP:0001104 Macular hypoplasia Phenotypic_abnormality 9 HP:0001136 HP:0001136 Retinal arteriolar tortuosity Phenotypic_abnormality 9 HP:0001166 HP:0001166 Arachnodactyly Phenotypic_abnormality 9 HP:0001181 HP:0001181 Adducted thumb Phenotypic_abnormality 9 HP:0001199 HP:0001199 Triphalangeal thumb Phenotypic_abnormality 9 HP:0001230 HP:0001230 Broad metacarpals Phenotypic_abnormality 9 HP:0001234 HP:0001234 Hitchhiker thumb Phenotypic_abnormality 9 HP:0001245 HP:0001245 Small thenar eminence Phenotypic_abnormality 9 HP:0001273 HP:0001273 Abnormality of the corpus callosum Phenotypic_abnormality 9 HP:0001302 HP:0001302 Pachygyria Phenotypic_abnormality 9 HP:0001310 HP:0001310 Dysmetria Phenotypic_abnormality 9 HP:0001321 HP:0001321 Cerebellar hypoplasia Phenotypic_abnormality 9 HP:0001322 HP:0001322 Brain very small Phenotypic_abnormality 9 HP:0001339 HP:0001339 Lissencephaly Phenotypic_abnormality 9 HP:0001459 HP:0001459 1-3 toe syndactyly Phenotypic_abnormality 9 HP:0001476 HP:0001476 Delayed closure of the anterior fontanelle Phenotypic_abnormality 9 HP:0001501 HP:0001501 6 metacarpals Phenotypic_abnormality 9 HP:0001566 HP:0001566 Widely-spaced maxillary central incisors Phenotypic_abnormality 9 HP:0001592 HP:0001592 Selective tooth agenesis Phenotypic_abnormality 9 HP:0001593 HP:0001593 Maxillary lateral incisor microdontia Phenotypic_abnormality 9 HP:0001762 HP:0001762 Talipes equinovarus Phenotypic_abnormality 9 HP:0001772 HP:0001772 Talipes equinovalgus Phenotypic_abnormality 9 HP:0001775 HP:0001775 Tarsal osteovalgus Phenotypic_abnormality 9 HP:0001838 HP:0001838 Rocker bottom foot Phenotypic_abnormality 9 HP:0001847 HP:0001847 Long hallux Phenotypic_abnormality 9 HP:0001848 HP:0001848 Calcaneovalgus deformity Phenotypic_abnormality 9 HP:0001864 HP:0001864 Fifth toe clinodactyly Phenotypic_abnormality 9 HP:0001884 HP:0001884 Talipes calcaneovalgus Phenotypic_abnormality 9 HP:0001967 HP:0001967 Diffuse mesangial sclerosis Phenotypic_abnormality 9 HP:0001970 HP:0001970 Tubulointerstitial nephritis Phenotypic_abnormality 9 HP:0002070 HP:0002070 Limb ataxia Phenotypic_abnormality 9 HP:0002073 HP:0002073 Progressive cerebellar ataxia Phenotypic_abnormality 9 HP:0002075 HP:0002075 Dysdiadochokinesis Phenotypic_abnormality 9 HP:0002078 HP:0002078 Truncal ataxia Phenotypic_abnormality 9 HP:0002120 HP:0002120 Cerebral cortical atrophy Phenotypic_abnormality 9 HP:0002126 HP:0002126 Polymicrogyria Phenotypic_abnormality 9 HP:0002131 HP:0002131 Episodic ataxia Phenotypic_abnormality 9 HP:0002139 HP:0002139 Arrhinencephaly Phenotypic_abnormality 9 HP:0002308 HP:0002308 Arnold-Chiari malformation Phenotypic_abnormality 9 HP:0002324 HP:0002324 Hydranencephaly Phenotypic_abnormality 9 HP:0002334 HP:0002334 Abnormality of the cerebellar vermis Phenotypic_abnormality 9 HP:0002453 HP:0002453 Abnormality of the globus pallidus Phenotypic_abnormality 9 HP:0002461 HP:0002461 Dense calcifications in the cerebellar dentate nucleus Phenotypic_abnormality 9 HP:0002470 HP:0002470 Nonprogressive cerebellar ataxia Phenotypic_abnormality 9 HP:0002497 HP:0002497 Spastic ataxia Phenotypic_abnormality 9 HP:0002506 HP:0002506 Diffuse cerebral atrophy Phenotypic_abnormality 9 HP:0002582 HP:0002582 Chronic atrophic gastritis Phenotypic_abnormality 9 HP:0002673 HP:0002673 Coxa valga Phenotypic_abnormality 9 HP:0002688 HP:0002688 Absent frontal sinuses Phenotypic_abnormality 9 HP:0002689 HP:0002689 Absent paranasal sinuses Phenotypic_abnormality 9 HP:0002720 HP:0002720 IgA deficiency Phenotypic_abnormality 9 HP:0002738 HP:0002738 Hypoplastic frontal sinuses Phenotypic_abnormality 9 HP:0002812 HP:0002812 Coxa vara Phenotypic_abnormality 9 HP:0002848 HP:0002848 Specific anti-polysaccharide antibody deficiency Phenotypic_abnormality 9 HP:0002850 HP:0002850 IgM deficiency Phenotypic_abnormality 9 HP:0002961 HP:0002961 Dysgammaglobulinemia Phenotypic_abnormality 9 HP:0002984 HP:0002984 Hypoplasia of the radius Phenotypic_abnormality 9 HP:0002990 HP:0002990 Fibular aplasia Phenotypic_abnormality 9 HP:0002999 HP:0002999 Patellar dislocation Phenotypic_abnormality 9 HP:0003003 HP:0003003 Colon cancer Phenotypic_abnormality 9 HP:0003022 HP:0003022 Hypoplasia of the ulna Phenotypic_abnormality 9 HP:0003048 HP:0003048 Radial head subluxation Phenotypic_abnormality 9 HP:0003083 HP:0003083 Dislocated radial head Phenotypic_abnormality 9 HP:0003139 HP:0003139 Panhypogammaglobulinemia Phenotypic_abnormality 9 HP:0003170 HP:0003170 Abnormality of the acetabulum Phenotypic_abnormality 9 HP:0003175 HP:0003175 Hypoplastic ischia Phenotypic_abnormality 9 HP:0003177 HP:0003177 Squared iliac bones Phenotypic_abnormality 9 HP:0003183 HP:0003183 Wide pubic symphysis Phenotypic_abnormality 9 HP:0003203 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test Phenotypic_abnormality 9 HP:0003212 HP:0003212 Increased IgE level Phenotypic_abnormality 9 HP:0003237 HP:0003237 Increased IgG level Phenotypic_abnormality 9 HP:0003244 HP:0003244 Penile hypospadias Phenotypic_abnormality 9 HP:0003261 HP:0003261 Increased IgA level Phenotypic_abnormality 9 HP:0003393 HP:0003393 Thenar muscle atrophy Phenotypic_abnormality 9 HP:0003496 HP:0003496 Increased IgM level Phenotypic_abnormality 9 HP:0003771 HP:0003771 Pulp stones Phenotypic_abnormality 9 HP:0003778 HP:0003778 Short mandibular rami Phenotypic_abnormality 9 HP:0003796 HP:0003796 Irregular iliac crest Phenotypic_abnormality 9 HP:0003833 HP:0003833 Laterally deficient tibial plateaux Phenotypic_abnormality 9 HP:0003862 HP:0003862 Absent humerus Phenotypic_abnormality 9 HP:0003880 HP:0003880 Sclerotic foci of the humerus Phenotypic_abnormality 9 HP:0003888 HP:0003888 Flattened humeral heads Phenotypic_abnormality 9 HP:0003890 HP:0003890 Prominent deltoid tuberosities Phenotypic_abnormality 9 HP:0003892 HP:0003892 Absent humeral epiphyseal ossification Phenotypic_abnormality 9 HP:0003893 HP:0003893 Advanced ossification of the humeral epiphysis Phenotypic_abnormality 9 HP:0003894 HP:0003894 Delayed humeral epiphyseal ossification Phenotypic_abnormality 9 HP:0003897 HP:0003897 Irregular ossification of the humeral epiphyses Phenotypic_abnormality 9 HP:0003901 HP:0003901 Stippled calcification of the humeral epiphyses Phenotypic_abnormality 9 HP:0003905 HP:0003905 Abnormality of the humeral epiphyseal plate Phenotypic_abnormality 9 HP:0003909 HP:0003909 Cortical subperiosteal resorption (humeral metaphyses) Phenotypic_abnormality 9 HP:0003911 HP:0003911 Flared humeral metaphysis Phenotypic_abnormality 9 HP:0003912 HP:0003912 Frayed humeral metaphyses Phenotypic_abnormality 9 HP:0003914 HP:0003914 Irregular ossification of humeral metaphyses Phenotypic_abnormality 9 HP:0003917 HP:0003917 Pointed humeral metaphysis Phenotypic_abnormality 9 HP:0003918 HP:0003918 Sclerotic humeral metaphysis Phenotypic_abnormality 9 HP:0003920 HP:0003920 Sloping humeral metaphysis Phenotypic_abnormality 9 HP:0003922 HP:0003922 Spurred humeral metaphysis Phenotypic_abnormality 9 HP:0003923 HP:0003923 Square humeral metaphysis Phenotypic_abnormality 9 HP:0003924 HP:0003924 Stippled calcification of humeral metaphysis Phenotypic_abnormality 9 HP:0003929 HP:0003929 Ground glass opacity of humeral diaphysis Phenotypic_abnormality 9 HP:0003930 HP:0003930 Lytic defects of humeral diaphysis Phenotypic_abnormality 9 HP:0003931 HP:0003931 Periosteal new bone (humeral diaphysis) Phenotypic_abnormality 9 HP:0003932 HP:0003932 Sclerotic foci of humeral diaphysis Phenotypic_abnormality 9 HP:0003933 HP:0003933 Sclerosis of humeral diaphysis Phenotypic_abnormality 9 HP:0003934 HP:0003934 Slender humeral diaphysis Phenotypic_abnormality 9 HP:0003939 HP:0003939 Humeroulnar synostosis Phenotypic_abnormality 9 HP:0003944 HP:0003944 Narrow joint spaces of the elbow Phenotypic_abnormality 9 HP:0003947 HP:0003947 Delayed elbow epiphyseal ossification Phenotypic_abnormality 9 HP:0003950 HP:0003950 Flared metaphyses (elbow) Phenotypic_abnormality 9 HP:0003996 HP:0003996 Flattened radial head Phenotypic_abnormality 9 HP:0003997 HP:0003997 Hypoplastic radial head Phenotypic_abnormality 9 HP:0004001 HP:0004001 Medially deficient radial epiphyses Phenotypic_abnormality 9 HP:0004006 HP:0004006 Round radial epiphyses Phenotypic_abnormality 9 HP:0004007 HP:0004007 Sclerotic radial epiphyses Phenotypic_abnormality 9 HP:0004008 HP:0004008 Sloping radial epiphyses Phenotypic_abnormality 9 HP:0004012 HP:0004012 Premature fusion of the radial epiphyseal plates Phenotypic_abnormality 9 HP:0004014 HP:0004014 Broad radial epiphyseal plate Phenotypic_abnormality 9 HP:0004017 HP:0004017 Exostoses of the radial metaphysis Phenotypic_abnormality 9 HP:0004018 HP:0004018 Flared radial metaphyses Phenotypic_abnormality 9 HP:0004023 HP:0004023 Sloping radial metaphysis Phenotypic_abnormality 9 HP:0004025 HP:0004025 Spurred radial metaphysis Phenotypic_abnormality 9 HP:0004028 HP:0004028 Spurs of radial diaphysis Phenotypic_abnormality 9 HP:0004029 HP:0004029 Lytic defects of radial diaphysis Phenotypic_abnormality 9 HP:0004030 HP:0004030 Patchy sclerosis of radial diaphysis Phenotypic_abnormality 9 HP:0004031 HP:0004031 Broad radial diaphysis Phenotypic_abnormality 9 HP:0004033 HP:0004033 Curved olecranon Phenotypic_abnormality 9 HP:0004034 HP:0004034 Irregular olecranon Phenotypic_abnormality 9 HP:0004036 HP:0004036 Long styloid process Phenotypic_abnormality 9 HP:0004038 HP:0004038 Bony spikule of ulnar epiphyseal plate Phenotypic_abnormality 9 HP:0004040 HP:0004040 Corner fragments of ulnar metaphysis Phenotypic_abnormality 9 HP:0004041 HP:0004041 Cupped ulnar metaphysis Phenotypic_abnormality 9 HP:0004044 HP:0004044 Pointed ulnar metaphysis Phenotypic_abnormality 9 HP:0004045 HP:0004045 Sloping ulnar metaphysis Phenotypic_abnormality 9 HP:0004059 HP:0004059 Radial club hand Phenotypic_abnormality 9 HP:0004213 HP:0004213 Abnormality of the phalanges of the 5th finger Phenotypic_abnormality 9 HP:0004214 HP:0004214 Curved phalanges of the 5th finger Phenotypic_abnormality 9 HP:0004239 HP:0004239 Proximally placed carpal bones Phenotypic_abnormality 9 HP:0004243 HP:0004243 Abnormality of the scaphoid Phenotypic_abnormality 9 HP:0012413 HP:0012413 Notched primary central incisor Phenotypic_abnormality 9 HP:0012428 HP:0012428 Prominent calcaneus Phenotypic_abnormality 9 HP:0012429 HP:0012429 Aplasia/Hypoplasia of the cerebral white matter Phenotypic_abnormality 9 HP:0012453 HP:0012453 Bilateral wrist flexion contracture Phenotypic_abnormality 9 HP:0012454 HP:0012454 Unilateral wrist flexion contracture Phenotypic_abnormality 9 HP:0012476 HP:0012476 Specific pneumococcal antibody deficiency Phenotypic_abnormality 9 HP:0012502 HP:0012502 Abnormality of the internal capsule Phenotypic_abnormality 9 HP:0012511 HP:0012511 Temporal optic disc pallor Phenotypic_abnormality 9 HP:0012512 HP:0012512 Diffuse optic disc pallor Phenotypic_abnormality 9 HP:0012573 HP:0012573 Global proximal tubulopathy Phenotypic_abnormality 9 HP:0012574 HP:0012574 Mesangial proliferation Phenotypic_abnormality 9 HP:0012578 HP:0012578 Membranous nephropathy Phenotypic_abnormality 9 HP:0012579 HP:0012579 Minimal change glomerulonephritis Phenotypic_abnormality 9 HP:0012642 HP:0012642 Cerebellar agenesis Phenotypic_abnormality 9 HP:0012643 HP:0012643 Foveal hypopigmentation Phenotypic_abnormality 9 HP:0012673 HP:0012673 Aplasia of the upper vagina Phenotypic_abnormality 9 HP:0012674 HP:0012674 Aplasia of the lower vagina Phenotypic_abnormality 9 HP:0012690 HP:0012690 T2 hypointense thalamus Phenotypic_abnormality 9 HP:0012691 HP:0012691 Focal T2 hypointense thalamic lesion Phenotypic_abnormality 9 HP:0012692 HP:0012692 Focal T2 hyperintense thalamic lesion Phenotypic_abnormality 9 HP:0012694 HP:0012694 Enlarged thalamic volume Phenotypic_abnormality 9 HP:0012695 HP:0012695 Decreased thalamic volume Phenotypic_abnormality 9 HP:0012697 HP:0012697 Small basal ganglia Phenotypic_abnormality 9 HP:0012728 HP:0012728 Fusiform descending thoracic aortic aneurysm Phenotypic_abnormality 9 HP:0012729 HP:0012729 Saccular descending thoracic aortic aneurysm Phenotypic_abnormality 9 HP:0012751 HP:0012751 Abnormal basal ganglia MRI signal intensity Phenotypic_abnormality 9 HP:0012762 HP:0012762 Cerebral white matter atrophy Phenotypic_abnormality 9 HP:0012785 HP:0012785 Flexion contracture of finger Phenotypic_abnormality 9 HP:0012789 HP:0012789 Hypoplasia of the calcaneus Phenotypic_abnormality 9 HP:0100040 HP:0100040 Broad 2nd toe Phenotypic_abnormality 9 HP:0100041 HP:0100041 Broad 3rd toe Phenotypic_abnormality 9 HP:0100042 HP:0100042 Broad 4th toe Phenotypic_abnormality 9 HP:0100043 HP:0100043 Broad 5th toe Phenotypic_abnormality 9 HP:0100275 HP:0100275 Diffuse cerebellar atrophy Phenotypic_abnormality 9 HP:0100279 HP:0100279 Ulcerative colitis Phenotypic_abnormality 9 HP:0100280 HP:0100280 Crohn's disease Phenotypic_abnormality 9 HP:0100333 HP:0100333 Unilateral cleft lip Phenotypic_abnormality 9 HP:0100336 HP:0100336 Bilateral cleft lip Phenotypic_abnormality 9 HP:0100338 HP:0100338 Non-midline cleft palate Phenotypic_abnormality 9 HP:0100499 HP:0100499 Tibial deviation of toes Phenotypic_abnormality 9 HP:0100500 HP:0100500 Fibular deviation of toes Phenotypic_abnormality 9 HP:0100519 HP:0100519 Anuria Phenotypic_abnormality 9 HP:0100520 HP:0100520 Oliguria Phenotypic_abnormality 9 HP:0100531 HP:0100531 Wind-swept deformity of the knees Phenotypic_abnormality 9 HP:0100805 HP:0100805 Precocious menopause Phenotypic_abnormality 9 HP:0100842 HP:0100842 Septo-optic dysplasia Phenotypic_abnormality 9 HP:0100862 HP:0100862 Aplasia of the femoral head Phenotypic_abnormality 9 HP:0100863 HP:0100863 Aplasia of the femoral neck Phenotypic_abnormality 9 HP:0100864 HP:0100864 Short femoral neck Phenotypic_abnormality 9 HP:0100865 HP:0100865 Broad ischia Phenotypic_abnormality 9 HP:0100958 HP:0100958 Narrow foramen obturatorium Phenotypic_abnormality 9 HP:0200050 HP:0200050 Bracket metacarpal epiphyses Phenotypic_abnormality 9 HP:0200071 HP:0200071 Peripheral vitreoretinal degeneration Phenotypic_abnormality 9 HP:0200094 HP:0200094 Frontal open bite Phenotypic_abnormality 9 HP:0200095 HP:0200095 Anterior open bite Phenotypic_abnormality 9 HP:0200099 HP:0200099 Peripheral retinal pigmentation abnormalities Phenotypic_abnormality 9 HP:0200116 HP:0200116 Distal ileal atresia Phenotypic_abnormality 9 HP:0200141 HP:0200141 Small, conical teeth Phenotypic_abnormality 9 HP:0200147 HP:0200147 Neuronal loss in basal ganglia Phenotypic_abnormality 9 HP:0012430 HP:0012430 Cerebral white matter hypoplasia Phenotypic_abnormality 10 HP:0012449 HP:0012449 Sacroiliac joint synovitis Phenotypic_abnormality 10 HP:0012460 HP:0012460 Dysmorphic inferior cerebellar vermis Phenotypic_abnormality 10 HP:0012650 HP:0012650 Perisylvian polymicrogyria Phenotypic_abnormality 10 HP:0012651 HP:0012651 Abasia Phenotypic_abnormality 10 HP:0012752 HP:0012752 Focal T2 hypointense basal ganglia lesion Phenotypic_abnormality 10 HP:0012753 HP:0012753 T2 hypointense basal ganglia Phenotypic_abnormality 10 HP:0012794 HP:0012794 Periventricular white matter hypodensities Phenotypic_abnormality 10 HP:0100044 HP:0100044 Absent epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100045 HP:0100045 Bracket epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100046 HP:0100046 Cone-shaped epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100047 HP:0100047 Enlarged epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100048 HP:0100048 Fragmentation of the epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100049 HP:0100049 Irregular epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100050 HP:0100050 Ivory epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100051 HP:0100051 Pseudoepiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100052 HP:0100052 Small epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100053 HP:0100053 Stippling of the epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100054 HP:0100054 Triangular epiphyses of the 2nd toe Phenotypic_abnormality 10 HP:0100055 HP:0100055 Absent epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100056 HP:0100056 Bracket epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100057 HP:0100057 Cone-shaped epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100058 HP:0100058 Enlarged epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100059 HP:0100059 Fragmentation of the epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100060 HP:0100060 Irregular epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100061 HP:0100061 Ivory epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100062 HP:0100062 Pseudoepiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100063 HP:0100063 Small epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100064 HP:0100064 Stippling of the epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100065 HP:0100065 Triangular epiphyses of the 3rd toe Phenotypic_abnormality 10 HP:0100066 HP:0100066 Absent epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100067 HP:0100067 Bracket epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100068 HP:0100068 Cone-shaped epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100069 HP:0100069 Enlarged epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100070 HP:0100070 Fragmentation of the epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100071 HP:0100071 Irregular epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100072 HP:0100072 Ivory epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100073 HP:0100073 Pseudoepiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100074 HP:0100074 Small epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100075 HP:0100075 Stippling of the epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100076 HP:0100076 Triangular epiphyses of the 4th toe Phenotypic_abnormality 10 HP:0100077 HP:0100077 Absent epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100078 HP:0100078 Bracket epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100079 HP:0100079 Cone-shaped epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100080 HP:0100080 Enlarged epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100081 HP:0100081 Fragmentation of the epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100082 HP:0100082 Irregular epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100083 HP:0100083 Ivory epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100084 HP:0100084 Pseudoepiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100085 HP:0100085 Small epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100086 HP:0100086 Stippling of the epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100087 HP:0100087 Triangular epiphyses of the 5th toe Phenotypic_abnormality 10 HP:0100088 HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0100089 HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0100090 HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0100091 HP:0100091 Abnormality of the epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0100092 HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0100093 HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0100094 HP:0100094 Abnormality of the epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 10 HP:0100095 HP:0100095 Abnormality of the epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 10 HP:0100096 HP:0100096 Abnormality of the epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 10 HP:0100097 HP:0100097 Abnormality of the epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 10 HP:0100098 HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 10 HP:0100099 HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 10 HP:0100307 HP:0100307 Cerebellar hemisphere hypoplasia Phenotypic_abnormality 10 HP:0100308 HP:0100308 Cerebral cortical hemiatrophy Phenotypic_abnormality 10 HP:0100328 HP:0100328 Carpometacarpal synostosis Phenotypic_abnormality 10 HP:0100329 HP:0100329 Tarsometatarsal synostosis Phenotypic_abnormality 10 HP:0100334 HP:0100334 Unilateral cleft palate Phenotypic_abnormality 10 HP:0100337 HP:0100337 Bilateral cleft palate Phenotypic_abnormality 10 HP:0100340 HP:0100340 Fibular deviation of the 4th toe Phenotypic_abnormality 10 HP:0100341 HP:0100341 Tibial deviation of the 4th toe Phenotypic_abnormality 10 HP:0100342 HP:0100342 Fibular deviation of the 3rd toe Phenotypic_abnormality 10 HP:0100343 HP:0100343 Tibial deviation of the 3rd toe Phenotypic_abnormality 10 HP:0100344 HP:0100344 Fibular deviation of the 2nd toe Phenotypic_abnormality 10 HP:0100345 HP:0100345 Tibial deviation of the 2nd toe Phenotypic_abnormality 10 HP:0100346 HP:0100346 Fibular deviation of the 5th toe Phenotypic_abnormality 10 HP:0100347 HP:0100347 Tibial deviation of the 5th toe Phenotypic_abnormality 10 HP:0100483 HP:0100483 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal Phenotypic_abnormality 10 HP:0100484 HP:0100484 Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal Phenotypic_abnormality 10 HP:0100485 HP:0100485 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal Phenotypic_abnormality 10 HP:0100486 HP:0100486 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal Phenotypic_abnormality 10 HP:0100488 HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal Phenotypic_abnormality 10 HP:0100866 HP:0100866 Short iliac bones Phenotypic_abnormality 10 HP:0100915 HP:0100915 Sclerosis of distal finger phalanx Phenotypic_abnormality 10 HP:0100916 HP:0100916 Sclerosis of middle finger phalanx Phenotypic_abnormality 10 HP:0100917 HP:0100917 Sclerosis of proximal finger phalanx Phenotypic_abnormality 10 HP:0100918 HP:0100918 Sclerosis of 2nd finger phalanx Phenotypic_abnormality 10 HP:0100919 HP:0100919 Sclerosis of 3rd finger phalanx Phenotypic_abnormality 10 HP:0100920 HP:0100920 Sclerosis of 4th finger phalanx Phenotypic_abnormality 10 HP:0100921 HP:0100921 Sclerosis of 5th finger phalanx Phenotypic_abnormality 10 HP:0100922 HP:0100922 Sclerosis of thumb phalanx Phenotypic_abnormality 10 HP:0100926 HP:0100926 Sclerosis of 2nd toe phalanx Phenotypic_abnormality 10 HP:0100927 HP:0100927 Sclerosis of 3rd toe phalanx Phenotypic_abnormality 10 HP:0100928 HP:0100928 Sclerosis of 4th toe phalanx Phenotypic_abnormality 10 HP:0100929 HP:0100929 Sclerosis of 5th toe phalanx Phenotypic_abnormality 10 HP:0100930 HP:0100930 Sclerosis of hallux phalanx Phenotypic_abnormality 10 HP:0100946 HP:0100946 Sclerosis of proximal toe phalanx Phenotypic_abnormality 10 HP:0100947 HP:0100947 Sclerosis of middle toe phalanx Phenotypic_abnormality 10 HP:0100948 HP:0100948 Sclerosis of distal toe phalanx Phenotypic_abnormality 10 HP:0200011 HP:0200011 Abnormal length of corpus callosum Phenotypic_abnormality 10 HP:0200017 HP:0200017 Cerebral white matter agenesis Phenotypic_abnormality 10 HP:0004244 HP:0004244 Accessory scaphoid Phenotypic_abnormality 10 HP:0004245 HP:0004245 Comma-shaped scaphoid Phenotypic_abnormality 10 HP:0004246 HP:0004246 Delayed ossification of the scaphoid Phenotypic_abnormality 10 HP:0004247 HP:0004247 Small scaphoid Phenotypic_abnormality 10 HP:0004249 HP:0004249 Accessory lunate Phenotypic_abnormality 10 HP:0004250 HP:0004250 Proximally placed lunate Phenotypic_abnormality 10 HP:0004251 HP:0004251 Lunate-triquetral fusion Phenotypic_abnormality 10 HP:0004253 HP:0004253 Absent trapezium/absent ossification of the trapezium Phenotypic_abnormality 10 HP:0004254 HP:0004254 Delayed ossification of the trapezium Phenotypic_abnormality 10 HP:0004255 HP:0004255 Small trapezium Phenotypic_abnormality 10 HP:0004257 HP:0004257 Delayed ossification of the trapezoid bone Phenotypic_abnormality 10 HP:0004258 HP:0004258 Small trapezoid bone Phenotypic_abnormality 10 HP:0004260 HP:0004260 Large hamate bone Phenotypic_abnormality 10 HP:0004263 HP:0004263 Large capitate bone Phenotypic_abnormality 10 HP:0004267 HP:0004267 Narrow small joints of the hand Phenotypic_abnormality 10 HP:0004269 HP:0004269 Subluxation of the small joints of the hand Phenotypic_abnormality 10 HP:0004293 HP:0004293 Synostosis of second metacarpal-trapezoid Phenotypic_abnormality 10 HP:0004433 HP:0004433 Secretory IgA deficiency Phenotypic_abnormality 10 HP:0004474 HP:0004474 Persistent open anterior fontanelle Phenotypic_abnormality 10 HP:0004485 HP:0004485 Cessation of head growth Phenotypic_abnormality 10 HP:0004629 HP:0004629 Small cervical vertebral bodies Phenotypic_abnormality 10 HP:0004689 HP:0004689 Short fourth metatarsal Phenotypic_abnormality 10 HP:0004696 HP:0004696 Talipes cavus equinovarus Phenotypic_abnormality 10 HP:0004704 HP:0004704 Short fifth metatarsal Phenotypic_abnormality 10 HP:0004729 HP:0004729 Acute tubulointerstitial nephritis Phenotypic_abnormality 10 HP:0004743 HP:0004743 Chronic tubulointerstitial nephritis Phenotypic_abnormality 10 HP:0004977 HP:0004977 Bilateral radial aplasia Phenotypic_abnormality 10 HP:0004986 HP:0004986 Rudimentary to absent fibulae Phenotypic_abnormality 10 HP:0004997 HP:0004997 Multicentric ossification of proximal humeral epiphyses Phenotypic_abnormality 10 HP:0005001 HP:0005001 Recurrent patellar dislocation Phenotypic_abnormality 10 HP:0005004 HP:0005004 Flattened proximal radial epiphyses Phenotypic_abnormality 10 HP:0005013 HP:0005013 Dysplastic distal radial epiphyses Phenotypic_abnormality 10 HP:0005033 HP:0005033 Distal ulnar hypoplasia Phenotypic_abnormality 10 HP:0005035 HP:0005035 Shortening of all phalanges of the toes Phenotypic_abnormality 10 HP:0005036 HP:0005036 Unilateral ulnar hypoplasia Phenotypic_abnormality 10 HP:0005041 HP:0005041 Irregular capital femoral epiphysis Phenotypic_abnormality 10 HP:0005043 HP:0005043 irregular proximal humeral metaphyses Phenotypic_abnormality 10 HP:0005048 HP:0005048 Synostosis of carpal bones Phenotypic_abnormality 10 HP:0005050 HP:0005050 Anterolateral radial head dislocation Phenotypic_abnormality 10 HP:0005060 HP:0005060 limited elbow flexion/extension Phenotypic_abnormality 10 HP:0005070 HP:0005070 Proximal radial head dislocation Phenotypic_abnormality 10 HP:0005084 HP:0005084 Anterior radial head dislocation Phenotypic_abnormality 10 HP:0005456 HP:0005456 Absent ethmoidal sinuses Phenotypic_abnormality 10 HP:0005643 HP:0005643 Short 3rd toe Phenotypic_abnormality 10 HP:0005648 HP:0005648 Bilateral ulnar hypoplasia Phenotypic_abnormality 10 HP:0005682 HP:0005682 Talocalcaneal synostosis Phenotypic_abnormality 10 HP:0005694 HP:0005694 Partial fusion of proximal row of carpal bones Phenotypic_abnormality 10 HP:0005709 HP:0005709 2-3 toe cutaneous syndactyly Phenotypic_abnormality 10 HP:0005739 HP:0005739 Posterior subluxation of radial head Phenotypic_abnormality 10 HP:0005747 HP:0005747 Easily subluxated first metacarpophalangeal joints Phenotypic_abnormality 10 HP:0005766 HP:0005766 Disproportionate shortening of the tibia Phenotypic_abnormality 10 HP:0005767 HP:0005767 1-2 toe complete cutaneous syndactyly Phenotypic_abnormality 10 HP:0005768 HP:0005768 2-4 toe cutaneous syndactyly Phenotypic_abnormality 10 HP:0005790 HP:0005790 Short mandibular condyles Phenotypic_abnormality 10 HP:0005798 HP:0005798 Posterior radial head dislocation Phenotypic_abnormality 10 HP:0005802 HP:0005802 Coalescence of tarsal bones Phenotypic_abnormality 10 HP:0005817 HP:0005817 Postaxial polysyndactyly of foot Phenotypic_abnormality 10 HP:0005819 HP:0005819 Short middle phalanx of finger Phenotypic_abnormality 10 HP:0005825 HP:0005825 Mixed sclerosis of humeral metaphyses Phenotypic_abnormality 10 HP:0005844 HP:0005844 Rounded middle phalanx of finger Phenotypic_abnormality 10 HP:0005850 HP:0005850 Congenital talipes calcaneovalgus Phenotypic_abnormality 10 HP:0005852 HP:0005852 Limited elbow extension and supination Phenotypic_abnormality 10 HP:0005856 HP:0005856 Ulnar radial head dislocation Phenotypic_abnormality 10 HP:0005873 HP:0005873 Polysyndactyly of hallux Phenotypic_abnormality 10 HP:0005886 HP:0005886 Aphalangy of the hands Phenotypic_abnormality 10 HP:0006019 HP:0006019 Reduced proximal interphalangeal joint space Phenotypic_abnormality 10 HP:0006055 HP:0006055 Ulnar deviated club hands Phenotypic_abnormality 10 HP:0006060 HP:0006060 Tombstone-shaped proximal phalanges Phenotypic_abnormality 10 HP:0006077 HP:0006077 Absent proximal finger flexion creases Phenotypic_abnormality 10 HP:0006106 HP:0006106 Absent trapezoid bone Phenotypic_abnormality 10 HP:0006114 HP:0006114 Multiple palmar creases Phenotypic_abnormality 10 HP:0006127 HP:0006127 Long proximal phalanx of finger Phenotypic_abnormality 10 HP:0006129 HP:0006129 Drumstick terminal phalanges Phenotypic_abnormality 10 HP:0006145 HP:0006145 Central Y-shaped metacarpal Phenotypic_abnormality 10 HP:0006147 HP:0006147 Progressive fusion 2nd-5th pip joints Phenotypic_abnormality 10 HP:0006153 HP:0006153 Disharmonious carpal bone Phenotypic_abnormality 10 HP:0006156 HP:0006156 Ulnar deviation of thumb Phenotypic_abnormality 10 HP:0006157 HP:0006157 Prominent palmar flexion creases Phenotypic_abnormality 10 HP:0006162 HP:0006162 Soft tissue swelling of interphalangeal joints Phenotypic_abnormality 10 HP:0006163 HP:0006163 Enlarged metacarpophalangeal joints Phenotypic_abnormality 10 HP:0006170 HP:0006170 Chess-pawn distal phalanges Phenotypic_abnormality 10 HP:0006175 HP:0006175 Proximal phalangeal periosteal thickening Phenotypic_abnormality 10 HP:0006176 HP:0006176 Two carpal ossification centers present at birth Phenotypic_abnormality 10 HP:0006179 HP:0006179 Pseudoepiphyses of second metacarpal Phenotypic_abnormality 10 HP:0006187 HP:0006187 Fusion of midphalangeal joints Phenotypic_abnormality 10 HP:0006190 HP:0006190 Radially deviated wrists Phenotypic_abnormality 10 HP:0006191 HP:0006191 Deep palmar crease Phenotypic_abnormality 10 HP:0006193 HP:0006193 Thimble-shaped middle phalanges of hand Phenotypic_abnormality 10 HP:0006207 HP:0006207 Partial fusion of carpals Phenotypic_abnormality 10 HP:0006209 HP:0006209 Partial-complete absence of 5th phalanges Phenotypic_abnormality 10 HP:0006213 HP:0006213 Thin proximal phalanges with broad epiphyses Phenotypic_abnormality 10 HP:0006216 HP:0006216 Single interphalangeal crease of fifth finger Phenotypic_abnormality 10 HP:0006217 HP:0006217 Limited mobility of proximal interphalangeal joint Phenotypic_abnormality 10 HP:0006237 HP:0006237 Prominent interphalangeal joints Phenotypic_abnormality 10 HP:0006252 HP:0006252 Interphalangeal joint erosions Phenotypic_abnormality 10 HP:0006253 HP:0006253 Swelling of proximal interphalangeal joints Phenotypic_abnormality 10 HP:0006282 HP:0006282 Generalized hypoplasia of dental enamel Phenotypic_abnormality 10 HP:0006291 HP:0006291 Marked delay in eruption of permanent teeth Phenotypic_abnormality 10 HP:0006321 HP:0006321 Multiple non-erupting secondary teeth Phenotypic_abnormality 10 HP:0006339 HP:0006339 Conical mandibular incisor Phenotypic_abnormality 10 HP:0006342 HP:0006342 Peg-shaped maxillary lateral incisors Phenotypic_abnormality 10 HP:0006379 HP:0006379 Proximal tibial hypopolasia Phenotypic_abnormality 10 HP:0006386 HP:0006386 Hypoplastic distal radial epiphyses Phenotypic_abnormality 10 HP:0006389 HP:0006389 Limited knee flexion Phenotypic_abnormality 10 HP:0006434 HP:0006434 Hypoplasia of proximal radius Phenotypic_abnormality 10 HP:0006436 HP:0006436 Shortening of the tibia Phenotypic_abnormality 10 HP:0006442 HP:0006442 Hypoplasia of proximal fibula Phenotypic_abnormality 10 HP:0006443 HP:0006443 Patellar aplasia Phenotypic_abnormality 10 HP:0006449 HP:0006449 Distal radial epiphyseal osteolysis Phenotypic_abnormality 10 HP:0006456 HP:0006456 Irregular proximal tibial epiphyses Phenotypic_abnormality 10 HP:0006461 HP:0006461 Proximal femoral epiphysiolysis Phenotypic_abnormality 10 HP:0006817 HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis Phenotypic_abnormality 10 HP:0006818 HP:0006818 Type I lissencephaly Phenotypic_abnormality 10 HP:0006821 HP:0006821 Polymicrogyria, anterior to posterior gradient Phenotypic_abnormality 10 HP:0006837 HP:0006837 Congenital Horner syndrome Phenotypic_abnormality 10 HP:0006855 HP:0006855 Cerebellar vermis atrophy Phenotypic_abnormality 10 HP:0006913 HP:0006913 Frontal cortical atrophy Phenotypic_abnormality 10 HP:0006927 HP:0006927 Unilateral polymicrogyria Phenotypic_abnormality 10 HP:0006951 HP:0006951 Retrocerebellar cyst Phenotypic_abnormality 10 HP:0006989 HP:0006989 Dysplastic corpus callosum Phenotypic_abnormality 10 HP:0007001 HP:0007001 Loss of Purkinje cells in the cerebellar vermis Phenotypic_abnormality 10 HP:0007065 HP:0007065 Disorganization of the anterior cerebellar vermis Phenotypic_abnormality 10 HP:0007074 HP:0007074 Thick corpus callosum Phenotypic_abnormality 10 HP:0007095 HP:0007095 Frontoparietal polymicrogyria Phenotypic_abnormality 10 HP:0007099 HP:0007099 Arnold-Chiari type I malformation Phenotypic_abnormality 10 HP:0007112 HP:0007112 Temporal cortical atrophy Phenotypic_abnormality 10 HP:0007183 HP:0007183 Focal T2 hyperintense basal ganglia lesion Phenotypic_abnormality 10 HP:0007187 HP:0007187 Focal lissencephaly Phenotypic_abnormality 10 HP:0007221 HP:0007221 Progressive truncal ataxia Phenotypic_abnormality 10 HP:0007240 HP:0007240 Progressive gait ataxia Phenotypic_abnormality 10 HP:0007260 HP:0007260 Type II lissencephaly Phenotypic_abnormality 10 HP:0007321 HP:0007321 Deep white matter hypodensities Phenotypic_abnormality 10 HP:0007447 HP:0007447 Diffuse palmoplantar hyperkeratosis Phenotypic_abnormality 10 HP:0007497 HP:0007497 Focal friction-related palmoplantar hyperkeratosis Phenotypic_abnormality 10 HP:0007530 HP:0007530 Punctate palmoplantar hyperkeratosis Phenotypic_abnormality 10 HP:0007545 HP:0007545 Congenital palmoplantar keratosis Phenotypic_abnormality 10 HP:0007548 HP:0007548 Palmoplantar keratosis with erythema and scale Phenotypic_abnormality 10 HP:0007553 HP:0007553 Congenital symmetrical palmoplantar keratosis Phenotypic_abnormality 10 HP:0007560 HP:0007560 Unusual dermatoglyphics Phenotypic_abnormality 10 HP:0007566 HP:0007566 Index finger dermatoglyphic radial loop Phenotypic_abnormality 10 HP:0007613 HP:0007613 Spinous keratoses of palms and soles Phenotypic_abnormality 10 HP:0007750 HP:0007750 Hypoplasia of the fovea Phenotypic_abnormality 10 HP:0007780 HP:0007780 Cortical pulverulent cataract Phenotypic_abnormality 10 HP:0007791 HP:0007791 Patchy atrophy of the retinal pigment epithelium Phenotypic_abnormality 10 HP:0007889 HP:0007889 Iridescent posterior subcapsular cataract Phenotypic_abnormality 10 HP:0007935 HP:0007935 Juvenile posterior subcapsular lenticular opacities Phenotypic_abnormality 10 HP:0007947 HP:0007947 Pericentral retinitis pigmentosa Phenotypic_abnormality 10 HP:0007948 HP:0007948 Dense posterior cortical cataract Phenotypic_abnormality 10 HP:0008035 HP:0008035 Retinitis pigmentosa inversa Phenotypic_abnormality 10 HP:0008079 HP:0008079 Absent fifth metatarsal Phenotypic_abnormality 10 HP:0008080 HP:0008080 Hallux varus Phenotypic_abnormality 10 HP:0008093 HP:0008093 Short 4th toe Phenotypic_abnormality 10 HP:0008097 HP:0008097 Partial fusion of tarsals Phenotypic_abnormality 10 HP:0008111 HP:0008111 Broad distal hallux Phenotypic_abnormality 10 HP:0008122 HP:0008122 Calcaneonavicular fusion Phenotypic_abnormality 10 HP:0008348 HP:0008348 Immunoglobulin IgG2 deficiency Phenotypic_abnormality 10 HP:0008473 HP:0008473 Narrow anterio-posterior vertebral body diameter Phenotypic_abnormality 10 HP:0008486 HP:0008486 Lumbar interpedicular narrowing Phenotypic_abnormality 10 HP:0008498 HP:0008498 No permanent dentition Phenotypic_abnormality 10 HP:0008784 HP:0008784 Wide capital femoral epiphyses Phenotypic_abnormality 10 HP:0008785 HP:0008785 Delayed ossification of pubic rami Phenotypic_abnormality 10 HP:0008786 HP:0008786 Iliac crest serration Phenotypic_abnormality 10 HP:0008788 HP:0008788 Delayed pubic bone ossification Phenotypic_abnormality 10 HP:0008794 HP:0008794 Dysplastic iliac wings Phenotypic_abnormality 10 HP:0008798 HP:0008798 Widened, small sacrosciatic notches Phenotypic_abnormality 10 HP:0008803 HP:0008803 Narrow sacroiliac notch Phenotypic_abnormality 10 HP:0008807 HP:0008807 Acetabular dysplasia Phenotypic_abnormality 10 HP:0008808 HP:0008808 High iliac wings Phenotypic_abnormality 10 HP:0008817 HP:0008817 Aplastic pubic bones Phenotypic_abnormality 10 HP:0008818 HP:0008818 Large iliac wings Phenotypic_abnormality 10 HP:0008821 HP:0008821 Hypoplastic inferior ilia Phenotypic_abnormality 10 HP:0008822 HP:0008822 Hypoplastic ischiopubic rami Phenotypic_abnormality 10 HP:0008824 HP:0008824 Hypoplastic iliac body Phenotypic_abnormality 10 HP:0008833 HP:0008833 Irregular acetabular roof Phenotypic_abnormality 10 HP:0008838 HP:0008838 Stippled calcification proximal humeral epiphyses Phenotypic_abnormality 10 HP:0009150 HP:0009150 Abnormality of the proximal phalanx of the 5th finger Phenotypic_abnormality 10 HP:0009180 HP:0009180 Ulnar deviation of the 5th finger Phenotypic_abnormality 10 HP:0009237 HP:0009237 Short 5th finger Phenotypic_abnormality 10 HP:0009238 HP:0009238 Aplasia of the 5th finger Phenotypic_abnormality 10 HP:0009278 HP:0009278 Ulnar deviation of the 4th finger Phenotypic_abnormality 10 HP:0009279 HP:0009279 Radial deviation of the 4th finger Phenotypic_abnormality 10 HP:0009280 HP:0009280 Short 4th finger Phenotypic_abnormality 10 HP:0009281 HP:0009281 Aplasia of the 4th finger Phenotypic_abnormality 10 HP:0009282 HP:0009282 Abnormality of the distal phalanx of the 4th finger Phenotypic_abnormality 10 HP:0009283 HP:0009283 Abnormality of the middle phalanx of the 4th finger Phenotypic_abnormality 10 HP:0009284 HP:0009284 Abnormality of the proximal phalanx of the 4th finger Phenotypic_abnormality 10 HP:0009357 HP:0009357 Abnormality of the distal phalanx of the 3rd finger Phenotypic_abnormality 10 HP:0009358 HP:0009358 Abnormality of the proximal phalanx of the 3rd finger Phenotypic_abnormality 10 HP:0009374 HP:0009374 Broad phalanges of the 5th finger Phenotypic_abnormality 10 HP:0009375 HP:0009375 Bullet-shaped phalanges of the 5th finger Phenotypic_abnormality 10 HP:0009376 HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger Phenotypic_abnormality 10 HP:0009378 HP:0009378 Triangular shaped phalanges of the 5th finger Phenotypic_abnormality 10 HP:0009404 HP:0009404 Broad phalanges of the 4th finger Phenotypic_abnormality 10 HP:0009405 HP:0009405 Bullet-shaped phalanges of the 4th finger Phenotypic_abnormality 10 HP:0009407 HP:0009407 Triangular shaped phalanges of the 4th finger Phenotypic_abnormality 10 HP:0009408 HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger Phenotypic_abnormality 10 HP:0009440 HP:0009440 Broad phalanges of the 3rd finger Phenotypic_abnormality 10 HP:0009441 HP:0009441 Bullet-shaped phalanges of the 3rd finger Phenotypic_abnormality 10 HP:0009445 HP:0009445 Symphalangism of the 3rd finger Phenotypic_abnormality 10 HP:0009446 HP:0009446 Triangular shaped phalanges of the 3rd finger Phenotypic_abnormality 10 HP:0009447 HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger Phenotypic_abnormality 10 HP:0009460 HP:0009460 Aplasia of the 3rd finger Phenotypic_abnormality 10 HP:0009461 HP:0009461 Short 3rd finger Phenotypic_abnormality 10 HP:0009462 HP:0009462 Radial deviation of the 3rd finger Phenotypic_abnormality 10 HP:0009463 HP:0009463 Ulnar deviation of the 3rd finger Phenotypic_abnormality 10 HP:0009464 HP:0009464 Ulnar deviation of the 2nd finger Phenotypic_abnormality 10 HP:0009467 HP:0009467 Radial deviation of the 2nd finger Phenotypic_abnormality 10 HP:0009535 HP:0009535 Aplasia of the 2nd finger Phenotypic_abnormality 10 HP:0009536 HP:0009536 Short 2nd finger Phenotypic_abnormality 10 HP:0009545 HP:0009545 Symphalangism of the 2nd finger Phenotypic_abnormality 10 HP:0009546 HP:0009546 Triangular shaped phalanges of the 2nd finger Phenotypic_abnormality 10 HP:0009548 HP:0009548 Bullet-shaped phalanges of the 2nd finger Phenotypic_abnormality 10 HP:0009552 HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger Phenotypic_abnormality 10 HP:0009622 HP:0009622 Distally placed thumb Phenotypic_abnormality 10 HP:0009623 HP:0009623 Proximal placement of thumb Phenotypic_abnormality 10 HP:0009652 HP:0009652 Bullet-shaped thumb phalanx Phenotypic_abnormality 10 HP:0009656 HP:0009656 Symphalangism of the thumb Phenotypic_abnormality 10 HP:0009657 HP:0009657 Triangular shaped thumb phalanx Phenotypic_abnormality 10 HP:0009658 HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb Phenotypic_abnormality 10 HP:0009659 HP:0009659 Partial absence of thumb Phenotypic_abnormality 10 HP:0009776 HP:0009776 Adactyly Phenotypic_abnormality 10 HP:0009777 HP:0009777 Absent thumb Phenotypic_abnormality 10 HP:0009778 HP:0009778 Short thumb Phenotypic_abnormality 10 HP:0009780 HP:0009780 Iliac horns Phenotypic_abnormality 10 HP:0009802 HP:0009802 Aplasia of the phalanges of the hand Phenotypic_abnormality 10 HP:0009803 HP:0009803 Short phalanx of finger Phenotypic_abnormality 10 HP:0009835 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand Phenotypic_abnormality 10 HP:0009836 HP:0009836 Broad distal phalanx of finger Phenotypic_abnormality 10 HP:0009837 HP:0009837 Bullet-shaped distal phalanges of the hand Phenotypic_abnormality 10 HP:0009838 HP:0009838 Curved distal phalanges of the hand Phenotypic_abnormality 10 HP:0009839 HP:0009839 Osteolytic defects of the distal phalanges of the hand Phenotypic_abnormality 10 HP:0009843 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand Phenotypic_abnormality 10 HP:0009844 HP:0009844 Broad middle phalanx of finger Phenotypic_abnormality 10 HP:0009845 HP:0009845 Bullet-shaped middle phalanges of the hand Phenotypic_abnormality 10 HP:0009846 HP:0009846 Curved middle phalanges of the hand Phenotypic_abnormality 10 HP:0009847 HP:0009847 Osteolytic defects of the middle phalanges of the hand Phenotypic_abnormality 10 HP:0009849 HP:0009849 Symphalangism of middle phalanx of finger Phenotypic_abnormality 10 HP:0009850 HP:0009850 Triangular shaped middle phalanges of the hand Phenotypic_abnormality 10 HP:0009851 HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009852 HP:0009852 Broad proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009853 HP:0009853 Bullet-shaped proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009854 HP:0009854 Curved proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009855 HP:0009855 Osteolytic defects of the proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009857 HP:0009857 Symphalangism affecting the proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009858 HP:0009858 Triangular shaped proximal phalanges of the hand Phenotypic_abnormality 10 HP:0009875 HP:0009875 Triangular shaped distal phalanges of the hand Phenotypic_abnormality 10 HP:0009881 HP:0009881 Aplasia of the distal phalanges of the hand Phenotypic_abnormality 10 HP:0009882 HP:0009882 Short distal phalanx of finger Phenotypic_abnormality 10 HP:0009883 HP:0009883 Duplication of the distal phalanx of hand Phenotypic_abnormality 10 HP:0009884 HP:0009884 Tapered distal phalanges of finger Phenotypic_abnormality 10 HP:0009942 HP:0009942 Duplication of thumb phalanx Phenotypic_abnormality 10 HP:0009945 HP:0009945 Duplication of phalanx of 2nd finger Phenotypic_abnormality 10 HP:0009959 HP:0009959 Duplication of phalanx of 3rd finger Phenotypic_abnormality 10 HP:0009972 HP:0009972 Duplication of phalanx of 4th finger Phenotypic_abnormality 10 HP:0009985 HP:0009985 Duplication of phalanx of 5th finger Phenotypic_abnormality 10 HP:0009998 HP:0009998 Complete duplication of phalanx of hand Phenotypic_abnormality 10 HP:0009999 HP:0009999 Partial duplication of the phalanx of hand Phenotypic_abnormality 10 HP:0010006 HP:0010006 Duplication of the proximal phalanx of hand Phenotypic_abnormality 10 HP:0010008 HP:0010008 Duplication of the middle phalanx of hand Phenotypic_abnormality 10 HP:0010015 HP:0010015 Absent epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010016 HP:0010016 Bracket epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010017 HP:0010017 Cone-shaped epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010018 HP:0010018 Enlarged epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010019 HP:0010019 Fragmentation of the epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010020 HP:0010020 Irregular epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010021 HP:0010021 Ivory epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010022 HP:0010022 Pseudoepiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010023 HP:0010023 Small epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010024 HP:0010024 Epiphyseal stippling of the first metacarpal Phenotypic_abnormality 10 HP:0010025 HP:0010025 Triangular epiphysis of the 1st metacarpal Phenotypic_abnormality 10 HP:0010048 HP:0010048 Aplasia of metacarpal bones Phenotypic_abnormality 10 HP:0010049 HP:0010049 Short metacarpal Phenotypic_abnormality 10 HP:0010052 HP:0010052 Abnormality of the proximal phalanx of the hallux Phenotypic_abnormality 10 HP:0010053 HP:0010053 Abnormality of the distal phalanx of the hallux Phenotypic_abnormality 10 HP:0010058 HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux Phenotypic_abnormality 10 HP:0010059 HP:0010059 Broad hallux phalanx Phenotypic_abnormality 10 HP:0010060 HP:0010060 Bullet-shaped hallux phalanx Phenotypic_abnormality 10 HP:0010061 HP:0010061 Curved hallux phalanx Phenotypic_abnormality 10 HP:0010062 HP:0010062 Osteolytic defects of the phalanges of the hallux Phenotypic_abnormality 10 HP:0010063 HP:0010063 Patchy sclerosis of hallux phalanx Phenotypic_abnormality 10 HP:0010064 HP:0010064 Symphalangism affecting the phalanges of the hallux Phenotypic_abnormality 10 HP:0010065 HP:0010065 Triangular shaped phalanges of the hallux Phenotypic_abnormality 10 HP:0010066 HP:0010066 Duplication of phalanx of hallux Phenotypic_abnormality 10 HP:0010098 HP:0010098 Complete duplication of the 1st metatarsal Phenotypic_abnormality 10 HP:0010099 HP:0010099 Partial duplication of the 1st metatarsal Phenotypic_abnormality 10 HP:0010104 HP:0010104 Absent first metatarsal Phenotypic_abnormality 10 HP:0010105 HP:0010105 Short first metatarsal Phenotypic_abnormality 10 HP:0010109 HP:0010109 Short hallux Phenotypic_abnormality 10 HP:0010113 HP:0010113 Absent hallux epiphysis Phenotypic_abnormality 10 HP:0010114 HP:0010114 Bracket epiphyses of the hallux Phenotypic_abnormality 10 HP:0010115 HP:0010115 Cone-shaped epiphyses of the hallux Phenotypic_abnormality 10 HP:0010116 HP:0010116 Enlarged epiphyses of the hallux Phenotypic_abnormality 10 HP:0010117 HP:0010117 Fragmentation of the epiphyses of the hallux Phenotypic_abnormality 10 HP:0010118 HP:0010118 Irregular epiphyses of the hallux Phenotypic_abnormality 10 HP:0010119 HP:0010119 Ivory epiphyses of the hallux Phenotypic_abnormality 10 HP:0010120 HP:0010120 Pseudoepiphyses of the hallux Phenotypic_abnormality 10 HP:0010121 HP:0010121 Small epiphyses of the hallux Phenotypic_abnormality 10 HP:0010122 HP:0010122 Stippling of the epiphyses of the hallux Phenotypic_abnormality 10 HP:0010123 HP:0010123 Triangular epiphyses of the hallux Phenotypic_abnormality 10 HP:0010124 HP:0010124 Abnormality of the epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 10 HP:0010125 HP:0010125 Abnormality of the epiphysis of the 1st metatarsal Phenotypic_abnormality 10 HP:0010126 HP:0010126 Abnormality of the epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 10 HP:0010185 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes Phenotypic_abnormality 10 HP:0010186 HP:0010186 Broad distal phalanx of the toes Phenotypic_abnormality 10 HP:0010187 HP:0010187 Bullet-shaped distal toe phalanx Phenotypic_abnormality 10 HP:0010188 HP:0010188 Curved distal toe phalanx Phenotypic_abnormality 10 HP:0010189 HP:0010189 Osteolytic defects of the distal phalanges of the toes Phenotypic_abnormality 10 HP:0010191 HP:0010191 Symphalangism affecting the distal phalanges of the toes Phenotypic_abnormality 10 HP:0010192 HP:0010192 Triangular shaped distal phalanges of the toes Phenotypic_abnormality 10 HP:0010193 HP:0010193 Duplication of distal phalanx of toe Phenotypic_abnormality 10 HP:0010194 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes Phenotypic_abnormality 10 HP:0010195 HP:0010195 Broad middle phalanges of the toes Phenotypic_abnormality 10 HP:0010196 HP:0010196 Bullet-shaped middle toe phalanx Phenotypic_abnormality 10 HP:0010197 HP:0010197 Curved middle toe phalanx Phenotypic_abnormality 10 HP:0010198 HP:0010198 Osteolytic defects of the middle phalanges of the toes Phenotypic_abnormality 10 HP:0010200 HP:0010200 Symphalangism affecting the middle phalanges of the toes Phenotypic_abnormality 10 HP:0010201 HP:0010201 Triangular shaped middle phalanges of the toes Phenotypic_abnormality 10 HP:0010202 HP:0010202 Duplication of middle phalanx of toe Phenotypic_abnormality 10 HP:0010203 HP:0010203 Aplasia/hypoplasia of proximal toe phalanx Phenotypic_abnormality 10 HP:0010204 HP:0010204 Broad proximal phalanx of toe Phenotypic_abnormality 10 HP:0010205 HP:0010205 Bullet-shaped proximal toe phalanx Phenotypic_abnormality 10 HP:0010206 HP:0010206 Curved proximal toe phalanx Phenotypic_abnormality 10 HP:0010207 HP:0010207 Osteolytic defect of the proximal toe phalanx Phenotypic_abnormality 10 HP:0010209 HP:0010209 Symphalangism affecting the proximal phalanges of the toes Phenotypic_abnormality 10 HP:0010210 HP:0010210 Triangular shaped proximal phalanges of the toes Phenotypic_abnormality 10 HP:0010211 HP:0010211 Duplication of proximal phalanx of toe Phenotypic_abnormality 10 HP:0010221 HP:0010221 Pseudoepiphysis of the 2nd metacarpal Phenotypic_abnormality 10 HP:0010223 HP:0010223 Pseudoepiphysis of the 3rd metacarpal Phenotypic_abnormality 10 HP:0010225 HP:0010225 Pseudoepiphysis of the 4th metacarpal Phenotypic_abnormality 10 HP:0010227 HP:0010227 Pseudoepiphysis of the 5th metacarpal Phenotypic_abnormality 10 HP:0010239 HP:0010239 Aplasia of the middle phalanx of the hand Phenotypic_abnormality 10 HP:0010241 HP:0010241 Short proximal phalanx of finger Phenotypic_abnormality 10 HP:0010242 HP:0010242 Aplasia of the proximal phalanges of the hand Phenotypic_abnormality 10 HP:0010243 HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger Phenotypic_abnormality 10 HP:0010244 HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand Phenotypic_abnormality 10 HP:0010245 HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 10 HP:0010292 HP:0010292 Absent uvula Phenotypic_abnormality 10 HP:0010347 HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010348 HP:0010348 Broad phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010349 HP:0010349 Bullet-shaped 2nd toe phalanx Phenotypic_abnormality 10 HP:0010350 HP:0010350 Curved 2nd toe phalanx Phenotypic_abnormality 10 HP:0010351 HP:0010351 Osteolytic defects of the phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010352 HP:0010352 Patchy sclerosis of 2nd toe phalanx Phenotypic_abnormality 10 HP:0010353 HP:0010353 Symphalangism affecting the phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010354 HP:0010354 Triangular shaped phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010355 HP:0010355 Duplication of the phalanges of the 2nd toe Phenotypic_abnormality 10 HP:0010356 HP:0010356 Abnormality of the distal phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0010357 HP:0010357 Abnormality of the middle phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0010358 HP:0010358 Abnormality of the proximal phalanx of the 2nd toe Phenotypic_abnormality 10 HP:0010359 HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe Phenotypic_abnormality 10 HP:0010360 HP:0010360 Broad phalanges of the 3rd toe Phenotypic_abnormality 10 HP:0010361 HP:0010361 Bullet-shaped 3rd toe phalanx Phenotypic_abnormality 10 HP:0010362 HP:0010362 Curved 3rd toe phalanx Phenotypic_abnormality 10 HP:0010363 HP:0010363 Osteolytic defects of the phalanges of the 3rd toe Phenotypic_abnormality 10 HP:0010364 HP:0010364 Patchy sclerosis of 3rd toe phalanx Phenotypic_abnormality 10 HP:0010365 HP:0010365 Symphalangism affecting the phalanges of the 3rd toe Phenotypic_abnormality 10 HP:0010366 HP:0010366 Triangular shaped phalanges of the 3rd toe Phenotypic_abnormality 10 HP:0010367 HP:0010367 Duplication of phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0010368 HP:0010368 Abnormality of the distal phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0010369 HP:0010369 Abnormality of the middle phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0010370 HP:0010370 Abnormality of the proximal phalanx of the 3rd toe Phenotypic_abnormality 10 HP:0010371 HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe Phenotypic_abnormality 10 HP:0010372 HP:0010372 Broad phalanges of the 4th toe Phenotypic_abnormality 10 HP:0010373 HP:0010373 Bullet-shaped 4th toe phalanx Phenotypic_abnormality 10 HP:0010374 HP:0010374 Curved 4th toe phalanx Phenotypic_abnormality 10 HP:0010375 HP:0010375 Osteolytic defects of the phalanges of the 4th toe Phenotypic_abnormality 10 HP:0010376 HP:0010376 Patchy sclerosis of 4th toe phalanx Phenotypic_abnormality 10 HP:0010377 HP:0010377 Symphalangism affecting the phalanges of the 4th toe Phenotypic_abnormality 10 HP:0010378 HP:0010378 Triangular shaped phalanges of the 4th toe Phenotypic_abnormality 10 HP:0010379 HP:0010379 Duplication of phalanx of the 4th toe Phenotypic_abnormality 10 HP:0010380 HP:0010380 Abnormality of the distal phalanx of the 4th toe Phenotypic_abnormality 10 HP:0010381 HP:0010381 Abnormality of the middle phalanx of the 4th toe Phenotypic_abnormality 10 HP:0010382 HP:0010382 Abnormality of the proximal phalanx of the 4th toe Phenotypic_abnormality 10 HP:0010383 HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010384 HP:0010384 Broad phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010385 HP:0010385 Bullet-shaped 5th toe phalanx Phenotypic_abnormality 10 HP:0010386 HP:0010386 Curved 5th toe phalanx Phenotypic_abnormality 10 HP:0010387 HP:0010387 Osteolytic defects of the phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010388 HP:0010388 Patchy sclerosis of 5th toe phalanx Phenotypic_abnormality 10 HP:0010389 HP:0010389 Symphalangism affecting the phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010390 HP:0010390 Triangular shaped phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010391 HP:0010391 Duplication of the phalanges of the 5th toe Phenotypic_abnormality 10 HP:0010392 HP:0010392 Abnormality of the distal phalanx of the 5th toe Phenotypic_abnormality 10 HP:0010393 HP:0010393 Abnormality of the middle phalanx of the 5th toe Phenotypic_abnormality 10 HP:0010394 HP:0010394 Abnormality of the proximal phalanx of the 5th toe Phenotypic_abnormality 10 HP:0010454 HP:0010454 Acetabular spurs Phenotypic_abnormality 10 HP:0010455 HP:0010455 Steep acetabular roof Phenotypic_abnormality 10 HP:0010488 HP:0010488 Aplasia/Hypoplasia of the palmar creases Phenotypic_abnormality 10 HP:0010665 HP:0010665 Bilateral coxa valga Phenotypic_abnormality 10 HP:0010745 HP:0010745 Aplasia of the phalanges of the toes Phenotypic_abnormality 10 HP:0010746 HP:0010746 Hypoplasia of the phalanges of the toes Phenotypic_abnormality 10 HP:0010812 HP:0010812 Short uvula Phenotypic_abnormality 10 HP:0010868 HP:0010868 Ocular dyssynergia Phenotypic_abnormality 10 HP:0010869 HP:0010869 Asynergia Phenotypic_abnormality 10 HP:0011060 HP:0011060 Dentinogenesis imperfecta limited to primary teeth Phenotypic_abnormality 10 HP:0011074 HP:0011074 Localized hypoplasia of dental enamel Phenotypic_abnormality 10 HP:0011082 HP:0011082 Conical primary incisor Phenotypic_abnormality 10 HP:0011083 HP:0011083 Conical maxillary incisor Phenotypic_abnormality 10 HP:0011084 HP:0011084 Hypocalcification of dental enamel Phenotypic_abnormality 10 HP:0011085 HP:0011085 Hypomature dental enamel Phenotypic_abnormality 10 HP:0011086 HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth Phenotypic_abnormality 10 HP:0011305 HP:0011305 Partial absence of toe Phenotypic_abnormality 10 HP:0011310 HP:0011310 Bridged palmar crease Phenotypic_abnormality 10 HP:0011311 HP:0011311 Sydney crease Phenotypic_abnormality 10 HP:0011315 HP:0011315 Unicoronal synostosis Phenotypic_abnormality 10 HP:0011318 HP:0011318 Bicoronal synostosis Phenotypic_abnormality 10 HP:0011319 HP:0011319 Bilambdoid synostosis Phenotypic_abnormality 10 HP:0011320 HP:0011320 Unilambdoid synostosis Phenotypic_abnormality 10 HP:0011325 HP:0011325 Pansynostosis Phenotypic_abnormality 10 HP:0011503 HP:0011503 Aplasia of the fovea Phenotypic_abnormality 10 HP:0011528 HP:0011528 Single isolated congenital hypertrophy of retinal pigment epithelium Phenotypic_abnormality 10 HP:0011529 HP:0011529 Multiple bilateral congenital hypertrophy of retinal pigment epithelium Phenotypic_abnormality 10 HP:0011837 HP:0011837 Partial IgA deficiency Phenotypic_abnormality 10 HP:0011845 HP:0011845 Short second metatarsal Phenotypic_abnormality 10 HP:0011908 HP:0011908 Unilateral radial aplasia Phenotypic_abnormality 10 HP:0011917 HP:0011917 Short 5th toe Phenotypic_abnormality 10 HP:0011926 HP:0011926 Proximal placement of hallux Phenotypic_abnormality 10 HP:0011928 HP:0011928 Short proximal phalanx of toe Phenotypic_abnormality 10 HP:0011932 HP:0011932 Abnormality of the superior cerebellar peduncle Phenotypic_abnormality 10 HP:0012104 HP:0012104 Parietal cortical atrophy Phenotypic_abnormality 10 HP:0012105 HP:0012105 Occipital cortical atrophy Phenotypic_abnormality 10 HP:0012225 HP:0012225 Oligodontia of primary teeth Phenotypic_abnormality 10 HP:0012284 HP:0012284 Small proximal tibial epiphyses Phenotypic_abnormality 10 HP:0012295 HP:0012295 Slender middle phalanx of finger Phenotypic_abnormality 10 HP:0012296 HP:0012296 Slender distal phalanx of finger Phenotypic_abnormality 10 HP:0012297 HP:0012297 Slender proximal phalanx of finger Phenotypic_abnormality 10 HP:0012298 HP:0012298 Long middle phalanx of finger Phenotypic_abnormality 10 HP:0012299 HP:0012299 Long distal phalanx of finger Phenotypic_abnormality 10 HP:0000675 HP:0000675 Macrodontia of permanent maxillary central incisor Phenotypic_abnormality 10 HP:0000694 HP:0000694 Shell teeth Phenotypic_abnormality 10 HP:0000808 HP:0000808 Penoscrotal hypospadias Phenotypic_abnormality 10 HP:0000954 HP:0000954 Single transverse palmar crease Phenotypic_abnormality 10 HP:0001032 HP:0001032 Absent distal interphalangeal creases Phenotypic_abnormality 10 HP:0001216 HP:0001216 Delayed ossification of carpal bones Phenotypic_abnormality 10 HP:0001220 HP:0001220 Interphalangeal joint contracture of finger Phenotypic_abnormality 10 HP:0001223 HP:0001223 Pointed proximal second through fifth metacarpals Phenotypic_abnormality 10 HP:0001241 HP:0001241 Capitate-hamate fusion Phenotypic_abnormality 10 HP:0001374 HP:0001374 Congenital hip dislocation Phenotypic_abnormality 10 HP:0001498 HP:0001498 Carpal bone hypoplasia Phenotypic_abnormality 10 HP:0001571 HP:0001571 Multiple impacted teeth Phenotypic_abnormality 10 HP:0001776 HP:0001776 Bilateral talipes equinovarus Phenotypic_abnormality 10 HP:0001822 HP:0001822 Hallux valgus Phenotypic_abnormality 10 HP:0001857 HP:0001857 Short distal phalanx of toe Phenotypic_abnormality 10 HP:0001885 HP:0001885 Short 2nd toe Phenotypic_abnormality 10 HP:0002195 HP:0002195 Dysgenesis of the cerebellar vermis Phenotypic_abnormality 10 HP:0002339 HP:0002339 Abnormality of the caudate nucleus Phenotypic_abnormality 10 HP:0002406 HP:0002406 Limb dysmetria Phenotypic_abnormality 10 HP:0002454 HP:0002454 Eye of the tiger anomaly of globus pallidus Phenotypic_abnormality 10 HP:0002744 HP:0002744 Bilateral cleft lip and palate Phenotypic_abnormality 10 HP:0002866 HP:0002866 Hypoplastic iliac wings Phenotypic_abnormality 10 HP:0002868 HP:0002868 Narrow iliac wings Phenotypic_abnormality 10 HP:0002869 HP:0002869 Flared iliac wings Phenotypic_abnormality 10 HP:0003065 HP:0003065 Patellar hypoplasia Phenotypic_abnormality 10 HP:0003173 HP:0003173 Hypoplastic pubic bones Phenotypic_abnormality 10 HP:0003179 HP:0003179 Protrusio acetabuli Phenotypic_abnormality 10 HP:0003180 HP:0003180 Flat acetabular roof Phenotypic_abnormality 10 HP:0003182 HP:0003182 Shallow acetabular fossae Phenotypic_abnormality 10 HP:0003274 HP:0003274 Hypoplastic acetabulae Phenotypic_abnormality 10 HP:0003277 HP:0003277 Constricted iliac wings Phenotypic_abnormality 10 HP:0003370 HP:0003370 Flat capital femoral epiphysis Phenotypic_abnormality 10 HP:0003459 HP:0003459 Polyclonal elevation of IgM Phenotypic_abnormality 10 HP:0003460 HP:0003460 Total immunoglobulin A deficiency Phenotypic_abnormality 10 HP:0003795 HP:0003795 Short middle phalanx of toe Phenotypic_abnormality 10 HP:0003908 HP:0003908 Corner spurs (humeral metaphyses) Phenotypic_abnormality 10 HP:0003919 HP:0003919 Sclerotic humeral metaphysis with longitudinal striations Phenotypic_abnormality 10 HP:0003921 HP:0003921 Laterally sloping humeral metaphysis Phenotypic_abnormality 10 HP:0004003 HP:0004003 Medially flattened radial epiphyses Phenotypic_abnormality 10 HP:0004009 HP:0004009 Medially sloping radial epiphyses Phenotypic_abnormality 10 HP:0004013 HP:0004013 Medially fused radial epiphyseal plates Phenotypic_abnormality 10 HP:0004024 HP:0004024 Medially sloping radial metaphysis Phenotypic_abnormality 10 HP:0004172 HP:0004172 Abnormality of the middle phalanx of the 3rd finger Phenotypic_abnormality 10 HP:0004195 HP:0004195 Osteolytic defects of the phalanges of the 4th finger Phenotypic_abnormality 10 HP:0004197 HP:0004197 Symphalangism of the 4th finger Phenotypic_abnormality 10 HP:0004209 HP:0004209 Clinodactyly of the 5th finger Phenotypic_abnormality 10 HP:0004216 HP:0004216 Osteolytic defects of the phalanges of the 5th finger Phenotypic_abnormality 10 HP:0004218 HP:0004218 Symphalangism of the 5th finger Phenotypic_abnormality 10 HP:0004219 HP:0004219 Abnormality of the middle phalanx of the 5th finger Phenotypic_abnormality 10 HP:0004225 HP:0004225 Abnormality of the distal phalanx of the 5th finger Phenotypic_abnormality 10 HP:0004231 HP:0004231 Carpal bone aplasia Phenotypic_abnormality 10 HP:0004233 HP:0004233 Advanced ossification of carpal bones Phenotypic_abnormality 10 HP:0004235 HP:0004235 Comma-shaped carpal bones Phenotypic_abnormality 10 HP:0004236 HP:0004236 Irregular carpal bones Phenotypic_abnormality 10 HP:0004237 HP:0004237 Large carpal bones Phenotypic_abnormality 10 HP:0004238 HP:0004238 Lytic defects of carpal bones Phenotypic_abnormality 10 HP:0000690 HP:0000690 Agenesis of maxillary lateral incisor Phenotypic_abnormality 11 HP:0001274 HP:0001274 Agenesis of corpus callosum Phenotypic_abnormality 11 HP:0001320 HP:0001320 Cerebellar vermis hypoplasia Phenotypic_abnormality 11 HP:0001870 HP:0001870 Acroosteolysis of distal phalanges (feet) Phenotypic_abnormality 11 HP:0002079 HP:0002079 Hypoplasia of the corpus callosum Phenotypic_abnormality 11 HP:0002335 HP:0002335 Agenesis of cerebellar vermis Phenotypic_abnormality 11 HP:0002404 HP:0002404 Thickened superior cerebellar peduncle Phenotypic_abnormality 11 HP:0002951 HP:0002951 Partial absence of cerebellar vermis Phenotypic_abnormality 11 HP:0003090 HP:0003090 Hypoplasia of the capital femoral epiphysis Phenotypic_abnormality 11 HP:0004058 HP:0004058 Monodactyly (hands) Phenotypic_abnormality 11 HP:0004180 HP:0004180 Short distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0004220 HP:0004220 Short middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0004224 HP:0004224 Abnormality of the epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0004226 HP:0004226 Curved distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0004227 HP:0004227 Short distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0004242 HP:0004242 Broad carpal bones Phenotypic_abnormality 11 HP:0005638 HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies Phenotypic_abnormality 11 HP:0005720 HP:0005720 Shortening of all metacarpals Phenotypic_abnormality 11 HP:0005726 HP:0005726 Thumbs hypoplastic with bulbous tips Phenotypic_abnormality 11 HP:0005769 HP:0005769 Fifth finger distal phalanx clinodactyly Phenotypic_abnormality 11 HP:0005780 HP:0005780 Absent fourth finger distal interphalangeal crease Phenotypic_abnormality 11 HP:0005807 HP:0005807 Absent distal phalanges Phenotypic_abnormality 11 HP:0005867 HP:0005867 Fused fourth and fifth metacarpals Phenotypic_abnormality 11 HP:0006011 HP:0006011 Cuboidal metacarpal Phenotypic_abnormality 11 HP:0006035 HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 Phenotypic_abnormality 11 HP:0006040 HP:0006040 Long second metacarpal Phenotypic_abnormality 11 HP:0006045 HP:0006045 Short pointed phalanges Phenotypic_abnormality 11 HP:0006069 HP:0006069 Severe carpal ossification delay Phenotypic_abnormality 11 HP:0006161 HP:0006161 Short metacarpals with rounded proximal ends Phenotypic_abnormality 11 HP:0006167 HP:0006167 Prominent proximal interphalangeal joints Phenotypic_abnormality 11 HP:0006184 HP:0006184 Decreased palmar creases Phenotypic_abnormality 11 HP:0006185 HP:0006185 Enlarged proximal interphalangeal joints Phenotypic_abnormality 11 HP:0006210 HP:0006210 Postaxial oligodactyly Phenotypic_abnormality 11 HP:0006224 HP:0006224 Tapering pointed ends of distal finger phalanges Phenotypic_abnormality 11 HP:0006226 HP:0006226 Osteoarthritis of the first carpometacarpal joint Phenotypic_abnormality 11 HP:0006230 HP:0006230 Unilateral oligodactyly Phenotypic_abnormality 11 HP:0006233 HP:0006233 Osteoarthritis of the distal interphalangeal joint Phenotypic_abnormality 11 HP:0006239 HP:0006239 Shortening of all middle phalanges of the toes Phenotypic_abnormality 11 HP:0006289 HP:0006289 Agenesis of central incisor Phenotypic_abnormality 11 HP:0006376 HP:0006376 Limited elbow flexion Phenotypic_abnormality 11 HP:0006381 HP:0006381 Rudimentary fibula Phenotypic_abnormality 11 HP:0006471 HP:0006471 Fixed elbow flexion Phenotypic_abnormality 11 HP:0007063 HP:0007063 Aplasia of the inferior half of the cerebellar vermis Phenotypic_abnormality 11 HP:0007598 HP:0007598 Bilateral single transverse palmar creases Phenotypic_abnormality 11 HP:0007627 HP:0007627 Mandibular condyle aplasia Phenotypic_abnormality 11 HP:0007628 HP:0007628 Mandibular condyle hypoplasia Phenotypic_abnormality 11 HP:0008083 HP:0008083 2nd-5th toe middle phalangeal hypoplasia Phenotypic_abnormality 11 HP:0008780 HP:0008780 Congenital bilateral hip dislocation Phenotypic_abnormality 11 HP:0008815 HP:0008815 Narrow sacroiliac notches in infancy Phenotypic_abnormality 11 HP:0008823 HP:0008823 Hypoplastic inferior pubic rami Phenotypic_abnormality 11 HP:0008830 HP:0008830 Hypoplastic pubic rami Phenotypic_abnormality 11 HP:0009153 HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009161 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009162 HP:0009162 Absent middle phalanx of 5th finger Phenotypic_abnormality 11 HP:0009168 HP:0009168 Bullet-shaped middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009169 HP:0009169 Broad middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009170 HP:0009170 Osteolytic defects of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009173 HP:0009173 Curved middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009175 HP:0009175 Patchy sclerosis of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009177 HP:0009177 Proximal/middle symphalangism of 5th finger Phenotypic_abnormality 11 HP:0009178 HP:0009178 Symphalangism of middle phalanx of 5th finger Phenotypic_abnormality 11 HP:0009182 HP:0009182 Triangular shaped middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009184 HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger Phenotypic_abnormality 11 HP:0009185 HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger Phenotypic_abnormality 11 HP:0009186 HP:0009186 Contracture of the metacarpophalangeal joint of the 5th finger Phenotypic_abnormality 11 HP:0009192 HP:0009192 Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009198 HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009225 HP:0009225 Aplasia of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009226 HP:0009226 Short proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009227 HP:0009227 Broad proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009228 HP:0009228 Bullet-shaped proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009229 HP:0009229 Curved proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009230 HP:0009230 Osteolytic defects of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009231 HP:0009231 Patchy sclerosis of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009232 HP:0009232 Symphalangism affecting the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009233 HP:0009233 Triangular shaped proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009234 HP:0009234 Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal Phenotypic_abnormality 11 HP:0009239 HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009240 HP:0009240 Broad distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009241 HP:0009241 Bullet-shaped distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009242 HP:0009242 Osteolytic defects of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009243 HP:0009243 Patchy sclerosis of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009244 HP:0009244 Distal/middle symphalangism of 5th finger Phenotypic_abnormality 11 HP:0009245 HP:0009245 Triangular shaped distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009246 HP:0009246 Aplasia of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009247 HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009248 HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009249 HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0012386 HP:0012386 Absent hallux Phenotypic_abnormality 11 HP:0012644 HP:0012644 Increased caudate lactate level Phenotypic_abnormality 11 HP:0100100 HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100101 HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100102 HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100103 HP:0100103 Enlarged epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100104 HP:0100104 Fragmentation of the epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100105 HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100106 HP:0100106 Ivory epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100107 HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100108 HP:0100108 Small epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100109 HP:0100109 Stippling of the epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100110 HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100111 HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100112 HP:0100112 Bracket epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100113 HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100114 HP:0100114 Enlarged epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100115 HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100116 HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100117 HP:0100117 Ivory epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100118 HP:0100118 Pseudoepiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100119 HP:0100119 Small epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100120 HP:0100120 Stippling of the epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100121 HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100122 HP:0100122 Absent epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100123 HP:0100123 Bracket epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100124 HP:0100124 Cone-shaped epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100125 HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100126 HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100127 HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100128 HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100129 HP:0100129 Pseudoepiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100130 HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100131 HP:0100131 Stippling of the epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100132 HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100135 HP:0100135 Absent epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100136 HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100137 HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100138 HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100139 HP:0100139 Fragmentation of the epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100140 HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100141 HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100142 HP:0100142 Pseudoepiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100143 HP:0100143 Small epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100144 HP:0100144 Stippling of the epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100145 HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100146 HP:0100146 Absent epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100147 HP:0100147 Bracket epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100148 HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100149 HP:0100149 Enlarged epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100150 HP:0100150 Fragmentation of the epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100151 HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100152 HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100153 HP:0100153 Pseudoepiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100154 HP:0100154 Small epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100155 HP:0100155 Stippling of the epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100156 HP:0100156 Triangular epiphysis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100157 HP:0100157 Absent epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100158 HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100159 HP:0100159 Cone-shaped epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100160 HP:0100160 Enlarged epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100161 HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100162 HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100163 HP:0100163 Ivory epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100164 HP:0100164 Pseudoepiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100165 HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100166 HP:0100166 Stippling of the epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100167 HP:0100167 Triangular epiphysis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100169 HP:0100169 Absent epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100170 HP:0100170 Bracket epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100171 HP:0100171 Cone-shaped epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100172 HP:0100172 Enlarged epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100173 HP:0100173 Fragmentation of the epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100174 HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100175 HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100176 HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100177 HP:0100177 Small epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100178 HP:0100178 Stippling of the epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100179 HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100180 HP:0100180 Absent epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100181 HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100182 HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100183 HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100184 HP:0100184 Fragmentation of the epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100185 HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100186 HP:0100186 Ivory epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100187 HP:0100187 Pseudoepiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100188 HP:0100188 Small epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100189 HP:0100189 Stippling of the epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100190 HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100191 HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100192 HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100193 HP:0100193 Cone-shaped epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100194 HP:0100194 Enlarged epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100195 HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100196 HP:0100196 Irregular epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100197 HP:0100197 Ivory epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100198 HP:0100198 Pseudoepiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100199 HP:0100199 Small epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100200 HP:0100200 Stippling of the epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100201 HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100202 HP:0100202 Absent epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100203 HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100204 HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100205 HP:0100205 Enlarged epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100206 HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100207 HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100208 HP:0100208 Ivory epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100209 HP:0100209 Pseudoepiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100210 HP:0100210 Small epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100211 HP:0100211 Stippling of the epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100212 HP:0100212 Triangular epiphysis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100213 HP:0100213 Absent epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100214 HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100215 HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100216 HP:0100216 Enlarged epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100217 HP:0100217 Fragmentation of the epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100218 HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100219 HP:0100219 Ivory epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100220 HP:0100220 Pseudoepiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100221 HP:0100221 Small epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100222 HP:0100222 Stippling of the epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100223 HP:0100223 Triangular epiphysis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100224 HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100225 HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100226 HP:0100226 Cone-shaped epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100227 HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100228 HP:0100228 Fragmentation of the epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100229 HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100230 HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100231 HP:0100231 Pseudoepiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100232 HP:0100232 Small epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100233 HP:0100233 Stippling of the epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100234 HP:0100234 Triangular epiphysis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100348 HP:0100348 Contracture of the proximal interphalangeal joint of the 2nd toe Phenotypic_abnormality 11 HP:0100349 HP:0100349 Contracture of the proximal interphalangeal joint of the 3rd toe Phenotypic_abnormality 11 HP:0100350 HP:0100350 Contracture of the proximal interphalangeal joint of the 4th toe Phenotypic_abnormality 11 HP:0100351 HP:0100351 Contractures of the proximal interphalangeal joint of the 5th toe Phenotypic_abnormality 11 HP:0100352 HP:0100352 Contracture of the distal interphalangeal joint of the 2nd toe Phenotypic_abnormality 11 HP:0100353 HP:0100353 Contracture of the distal interphalangeal joint of the 3rd toe Phenotypic_abnormality 11 HP:0100354 HP:0100354 Contracture of the distal interphalangeal joint of the 4th toe Phenotypic_abnormality 11 HP:0100355 HP:0100355 Contractures of the distal interphalangeal joint of the 5th toe Phenotypic_abnormality 11 HP:0100356 HP:0100356 Contracture of the metatarsophalangeal joint of the 2nd toe Phenotypic_abnormality 11 HP:0100357 HP:0100357 Contracture of the metatarsophalangeal joint of the 3rd toe Phenotypic_abnormality 11 HP:0100358 HP:0100358 Contracture of the metatarsophalangeal joint of the 4th toe Phenotypic_abnormality 11 HP:0100359 HP:0100359 Contracture of the metatarsophalangeal joint of the 5th toe Phenotypic_abnormality 11 HP:0100362 HP:0100362 Aplasia of the phalanges of the 3rd toe Phenotypic_abnormality 11 HP:0100363 HP:0100363 Aplasia of the phalanges of the 4th toe Phenotypic_abnormality 11 HP:0100364 HP:0100364 Aplasia of the phalanges of the 5th toe Phenotypic_abnormality 11 HP:0100366 HP:0100366 Short phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100367 HP:0100367 Short phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100368 HP:0100368 Short phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100369 HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100370 HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100371 HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100372 HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100373 HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100374 HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100375 HP:0100375 Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100376 HP:0100376 Aplasia/hypoplasia of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100377 HP:0100377 Aplasia/hypoplasia of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100387 HP:0100387 Aplasia of the middle phalanges of the toes Phenotypic_abnormality 11 HP:0100388 HP:0100388 Aplasia of the proximal phalanges of the toes Phenotypic_abnormality 11 HP:0100398 HP:0100398 Duplication of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100399 HP:0100399 Duplication of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100400 HP:0100400 Duplication of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100401 HP:0100401 Duplication of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100402 HP:0100402 Duplication of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100403 HP:0100403 Duplication of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100404 HP:0100404 Duplication of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100405 HP:0100405 Duplication of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100406 HP:0100406 Duplication of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100425 HP:0100425 Broad middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100426 HP:0100426 Broad middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100427 HP:0100427 Broad middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100428 HP:0100428 Broad proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100429 HP:0100429 Broad proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100430 HP:0100430 Broad proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100431 HP:0100431 Broad distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100432 HP:0100432 Broad distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100433 HP:0100433 Broad distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100434 HP:0100434 Bullet-shaped middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100435 HP:0100435 Bullet-shaped middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100436 HP:0100436 Bullet-shaped middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100437 HP:0100437 Bullet-shaped proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100438 HP:0100438 Bullet-shaped proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100439 HP:0100439 Bullet-shaped proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100440 HP:0100440 Bullet-shaped distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100441 HP:0100441 Bullet-shaped distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100442 HP:0100442 Bullet-shaped distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100443 HP:0100443 Curved middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100444 HP:0100444 Curved middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100445 HP:0100445 Curved middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100446 HP:0100446 Curved proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100447 HP:0100447 Curved proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100448 HP:0100448 Curved proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100449 HP:0100449 Curved distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100450 HP:0100450 Curved distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100451 HP:0100451 Curved distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100452 HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100453 HP:0100453 Osteolytic defects of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100454 HP:0100454 Osteolytic defects of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100455 HP:0100455 Osteolytic defects of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100456 HP:0100456 Osteolytic defects of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100457 HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100458 HP:0100458 Osteolytic defects of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100459 HP:0100459 Osteolytic defects of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100460 HP:0100460 Osteolytic defects of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100470 HP:0100470 Symphalangism affecting the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100471 HP:0100471 Symphalangism affecting the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100472 HP:0100472 Symphalangism affecting the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100473 HP:0100473 Symphalangism affecting the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100474 HP:0100474 Symphalangism affecting the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100475 HP:0100475 Symphalangism affecting the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100476 HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100477 HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100478 HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100480 HP:0100480 Proximal/middle symphalangism of 3rd toe Phenotypic_abnormality 11 HP:0100481 HP:0100481 Proximal/middle symphalangism of 4th toe Phenotypic_abnormality 11 HP:0100482 HP:0100482 Proximal/middle symphalangism of 5th toe Phenotypic_abnormality 11 HP:0100487 HP:0100487 Triangular shaped distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100489 HP:0100489 Proximal/middle symphalangism of 2nd toe Phenotypic_abnormality 11 HP:0100900 HP:0100900 Sclerosis of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0100901 HP:0100901 Sclerosis of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0100902 HP:0100902 Sclerosis of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0100903 HP:0100903 Sclerosis of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0100904 HP:0100904 Sclerosis of the middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0100905 HP:0100905 Sclerosis of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0100906 HP:0100906 Sclerosis of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0100907 HP:0100907 Sclerosis of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0100908 HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0100909 HP:0100909 Sclerosis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0100910 HP:0100910 Sclerosis of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0100911 HP:0100911 Sclerosis of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0100912 HP:0100912 Sclerosis of the distal phalanx of the thumb Phenotypic_abnormality 11 HP:0100913 HP:0100913 Sclerosis of the proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0100914 HP:0100914 Sclerosis of the 1st metacarpal Phenotypic_abnormality 11 HP:0100931 HP:0100931 Sclerosis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100932 HP:0100932 Sclerosis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100933 HP:0100933 Sclerosis of the proximal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100934 HP:0100934 Sclerosis of the proximal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100935 HP:0100935 Sclerosis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100936 HP:0100936 Sclerosis of the middle phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100937 HP:0100937 Sclerosis of the middle phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100938 HP:0100938 Sclerosis of the middle phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100939 HP:0100939 Sclerosis of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0100940 HP:0100940 Sclerosis of the distal phalanx of the 3rd toe Phenotypic_abnormality 11 HP:0100941 HP:0100941 Sclerosis of the distal phalanx of the 4th toe Phenotypic_abnormality 11 HP:0100942 HP:0100942 Sclerosis of the distal phalanx of the 5th toe Phenotypic_abnormality 11 HP:0100943 HP:0100943 Sclerosis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0100944 HP:0100944 Sclerosis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0100945 HP:0100945 Sclerosis of the 1st metatarsal Phenotypic_abnormality 11 HP:0200012 HP:0200012 Short corpus callosum Phenotypic_abnormality 11 HP:0200054 HP:0200054 Monodactyly (feet) Phenotypic_abnormality 11 HP:0200113 HP:0200113 Aphalangy of hands and feet Phenotypic_abnormality 11 HP:0009275 HP:0009275 Contracture of the distal interphalangeal joint of the 4th finger Phenotypic_abnormality 11 HP:0009276 HP:0009276 Contracture of the proximal interphalangeal joint of the 4th finger Phenotypic_abnormality 11 HP:0009277 HP:0009277 Contracture of the metacarpophalangeal joint of the 4th finger Phenotypic_abnormality 11 HP:0009286 HP:0009286 Curved distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009287 HP:0009287 Curved middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009288 HP:0009288 Curved proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009289 HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009290 HP:0009290 Short distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009291 HP:0009291 Aplasia of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009292 HP:0009292 Broad distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009293 HP:0009293 Broad middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009294 HP:0009294 Absent middle phalanx of 4th finger Phenotypic_abnormality 11 HP:0009295 HP:0009295 Short middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009296 HP:0009296 Bullet-shaped middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009297 HP:0009297 Osteolytic defects of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009298 HP:0009298 Aplasia of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009299 HP:0009299 Aplasia/Hypoplasia of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009300 HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009301 HP:0009301 Short proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009302 HP:0009302 Bullet-shaped distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009303 HP:0009303 Osteolytic defects of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009304 HP:0009304 Patchy sclerosis of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009305 HP:0009305 Distal/middle symphalangism of 4th finger Phenotypic_abnormality 11 HP:0009306 HP:0009306 Triangular shaped distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009307 HP:0009307 Patchy sclerosis of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009308 HP:0009308 Symphalangism of middle phalanx of 4th finger Phenotypic_abnormality 11 HP:0009309 HP:0009309 Triangular shaped middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009310 HP:0009310 Broad proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009311 HP:0009311 Bullet-shaped proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009312 HP:0009312 Osteolytic defects of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009313 HP:0009313 Patchy sclerosis of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009314 HP:0009314 Symphalangism affecting the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009315 HP:0009315 Triangular shaped proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009332 HP:0009332 Abnormality of the epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009333 HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009334 HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009377 HP:0009377 Patchy sclerosis of 5th finger phalanx Phenotypic_abnormality 11 HP:0009382 HP:0009382 Absent epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009383 HP:0009383 Bracket epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009384 HP:0009384 Cone-shaped epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009385 HP:0009385 Enlarged epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009386 HP:0009386 Fragmentation of the epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009387 HP:0009387 Irregular epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009388 HP:0009388 Ivory epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009389 HP:0009389 Pseudoepiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009390 HP:0009390 Small epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009391 HP:0009391 Stippling of the epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009392 HP:0009392 Triangular epiphyses of the 5th finger Phenotypic_abnormality 11 HP:0009393 HP:0009393 Absent epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009394 HP:0009394 Bracket epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009395 HP:0009395 Cone-shaped epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009396 HP:0009396 Enlarged epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009397 HP:0009397 Fragmentation of the epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009398 HP:0009398 Irregular epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009399 HP:0009399 Ivory epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009400 HP:0009400 Pseudoepiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009401 HP:0009401 Small epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009402 HP:0009402 Stippling of the epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009403 HP:0009403 Triangular epiphyses of the 4th finger Phenotypic_abnormality 11 HP:0009406 HP:0009406 Patchy sclerosis of 4th finger phalanx Phenotypic_abnormality 11 HP:0009410 HP:0009410 Absent epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009411 HP:0009411 Bracket epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009412 HP:0009412 Cone-shaped epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009413 HP:0009413 Enlarged epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009414 HP:0009414 Fragmentation of the epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009415 HP:0009415 Irregular epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009416 HP:0009416 Ivory epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009417 HP:0009417 Pseudoepiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009418 HP:0009418 Small epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009419 HP:0009419 Stippling of the epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009420 HP:0009420 Triangular epiphyses of the 3rd finger Phenotypic_abnormality 11 HP:0009421 HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009422 HP:0009422 Broad distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009423 HP:0009423 Bullet-shaped distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009424 HP:0009424 Osteolytic defects of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009425 HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009426 HP:0009426 Distal/middle symphalangism of 3rd finger Phenotypic_abnormality 11 HP:0009427 HP:0009427 Triangular shaped distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009428 HP:0009428 Curved distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009429 HP:0009429 Aplasia of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009430 HP:0009430 Broad middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009431 HP:0009431 Bullet-shaped middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009432 HP:0009432 Curved middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009433 HP:0009433 Osteolytic defects of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009434 HP:0009434 Patchy sclerosis of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009435 HP:0009435 Symphalangism of middle phalanx of 3rd finger Phenotypic_abnormality 11 HP:0009436 HP:0009436 Triangular shaped middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009437 HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009438 HP:0009438 Absent middle phalanx of 3rd finger Phenotypic_abnormality 11 HP:0009439 HP:0009439 Short middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009444 HP:0009444 Patchy sclerosis of 3rd finger phalanx Phenotypic_abnormality 11 HP:0009450 HP:0009450 Broad proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009451 HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009452 HP:0009452 Curved proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009453 HP:0009453 Osteolytic defects of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009454 HP:0009454 Patchy sclerosis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009455 HP:0009455 Symphalangism affecting the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009456 HP:0009456 Triangular shaped proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009457 HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009458 HP:0009458 Aplasia of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009459 HP:0009459 Short proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009469 HP:0009469 Contracture of the distal interphalangeal joint of the 3rd finger Phenotypic_abnormality 11 HP:0009470 HP:0009470 Contracture of the metacarpophalangeal joint of the 3rd finger Phenotypic_abnormality 11 HP:0009471 HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger Phenotypic_abnormality 11 HP:0009477 HP:0009477 Proximal/middle symphalangism of 4th finger Phenotypic_abnormality 11 HP:0009478 HP:0009478 Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal Phenotypic_abnormality 11 HP:0009482 HP:0009482 Proximal/middle symphalangism of 3rd finger Phenotypic_abnormality 11 HP:0009483 HP:0009483 Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal Phenotypic_abnormality 11 HP:0009488 HP:0009488 Absent epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009489 HP:0009489 Bracket epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009490 HP:0009490 Cone-shaped epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009491 HP:0009491 Enlarged epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009492 HP:0009492 Fragmentation of the epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009493 HP:0009493 Irregular epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009494 HP:0009494 Ivory epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009495 HP:0009495 Pseudoepiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009496 HP:0009496 Small epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009497 HP:0009497 Stippling of the epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009498 HP:0009498 Triangular epiphyses of the 2nd finger Phenotypic_abnormality 11 HP:0009499 HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009500 HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009501 HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009538 HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger Phenotypic_abnormality 11 HP:0009539 HP:0009539 Contracture of the metacarpophalangeal joint of the 2nd finger Phenotypic_abnormality 11 HP:0009540 HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger Phenotypic_abnormality 11 HP:0009542 HP:0009542 Abnormality of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009543 HP:0009543 Abnormality of the middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009544 HP:0009544 Abnormality of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009547 HP:0009547 Broad phalanges of the 2nd finger Phenotypic_abnormality 11 HP:0009551 HP:0009551 Patchy sclerosis of 2nd finger phalanx Phenotypic_abnormality 11 HP:0009559 HP:0009559 Bullet-shaped distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009560 HP:0009560 Curved distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009561 HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009563 HP:0009563 Distal/middle symphalangism of 2nd finger Phenotypic_abnormality 11 HP:0009564 HP:0009564 Triangular shaped distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009565 HP:0009565 Aplasia of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009566 HP:0009566 Short distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009570 HP:0009570 Bullet-shaped middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009571 HP:0009571 Curved middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009572 HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009574 HP:0009574 Symphalangism of middle phalanx of 2nd finger Phenotypic_abnormality 11 HP:0009575 HP:0009575 Triangular shaped middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009576 HP:0009576 Absent middle phalanx of 2nd finger Phenotypic_abnormality 11 HP:0009577 HP:0009577 Short middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009579 HP:0009579 Proximal/middle symphalangism of the 2nd finger Phenotypic_abnormality 11 HP:0009582 HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009583 HP:0009583 Curved proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009584 HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009586 HP:0009586 Symphalangism affecting the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009587 HP:0009587 Triangular shaped proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009596 HP:0009596 Aplasia of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009597 HP:0009597 Short proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009598 HP:0009598 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal Phenotypic_abnormality 11 HP:0009612 HP:0009612 Duplication of the distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009613 HP:0009613 Duplication of the proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009617 HP:0009617 Abnormality of the distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009618 HP:0009618 Abnormality of the proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009624 HP:0009624 Contractures of the carpometacarpal joint of the thumb Phenotypic_abnormality 11 HP:0009625 HP:0009625 Contractures of the metacarpophalangeal joint of the thumb Phenotypic_abnormality 11 HP:0009626 HP:0009626 Contractures of the interphalangeal joint of the thumb Phenotypic_abnormality 11 HP:0009631 HP:0009631 Bullet-shaped proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009632 HP:0009632 Curved proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009633 HP:0009633 Osteolytic defect of the proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009635 HP:0009635 Synostosis of thumb phalanx Phenotypic_abnormality 11 HP:0009636 HP:0009636 Triangular shaped proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009640 HP:0009640 Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal Phenotypic_abnormality 11 HP:0009643 HP:0009643 Bullet-shaped distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009644 HP:0009644 Curved distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009645 HP:0009645 Osteolytic defect of the distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009648 HP:0009648 Triangular shaped distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009655 HP:0009655 Patchy sclerosis of thumb phalanx Phenotypic_abnormality 11 HP:0009660 HP:0009660 Short phalanx of the thumb Phenotypic_abnormality 11 HP:0009662 HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 11 HP:0009663 HP:0009663 Abnormality of the epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 11 HP:0009686 HP:0009686 Absent epiphyses of the thumb Phenotypic_abnormality 11 HP:0009687 HP:0009687 Bracket epiphyses of the thumb Phenotypic_abnormality 11 HP:0009688 HP:0009688 Cone-shaped epiphysis of the thumb Phenotypic_abnormality 11 HP:0009689 HP:0009689 Enlarged thumb epiphysis Phenotypic_abnormality 11 HP:0009690 HP:0009690 Fragmentation of thumb epiphysis Phenotypic_abnormality 11 HP:0009691 HP:0009691 Irregular thumb epiphysis Phenotypic_abnormality 11 HP:0009692 HP:0009692 Ivory epiphysis of the thumb Phenotypic_abnormality 11 HP:0009693 HP:0009693 Pseudoepiphysis of the thumb Phenotypic_abnormality 11 HP:0009694 HP:0009694 Small thumb epiphysis Phenotypic_abnormality 11 HP:0009695 HP:0009695 Stippling of thumb epiphysis Phenotypic_abnormality 11 HP:0009696 HP:0009696 Triangular epiphyses of the thumb Phenotypic_abnormality 11 HP:0009697 HP:0009697 Contracture of the distal interphalangeal joints of the fingers Phenotypic_abnormality 11 HP:0009840 HP:0009840 Patchy sclerosis of distal phalanx of finger Phenotypic_abnormality 11 HP:0009848 HP:0009848 Patchy sclerosis of middle phalanx of finger Phenotypic_abnormality 11 HP:0009856 HP:0009856 Patchy sclerosis of proximal phalanx of finger Phenotypic_abnormality 11 HP:0009943 HP:0009943 Complete duplication of thumb phalanx Phenotypic_abnormality 11 HP:0009944 HP:0009944 Partial duplication of thumb phalanx Phenotypic_abnormality 11 HP:0009947 HP:0009947 Duplication of the proximal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009948 HP:0009948 Duplication of the distal phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009949 HP:0009949 Duplication of the middle phalanx of the 2nd finger Phenotypic_abnormality 11 HP:0009956 HP:0009956 Partial duplication of the phalanges of the 2nd finger Phenotypic_abnormality 11 HP:0009957 HP:0009957 Complete duplication of the phalanges of the 2nd finger Phenotypic_abnormality 11 HP:0009960 HP:0009960 Complete duplication of the phalanges of the 3rd finger Phenotypic_abnormality 11 HP:0009961 HP:0009961 Partial duplication of the phalanges of the 3rd finger Phenotypic_abnormality 11 HP:0009962 HP:0009962 Duplication of the distal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009963 HP:0009963 Duplication of the middle phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009964 HP:0009964 Duplication of the proximal phalanx of the 3rd finger Phenotypic_abnormality 11 HP:0009973 HP:0009973 Complete duplication of the phalanges of the 4th finger Phenotypic_abnormality 11 HP:0009974 HP:0009974 Partial duplication of the phalanges of the 4th finger Phenotypic_abnormality 11 HP:0009975 HP:0009975 Duplication of the distal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009976 HP:0009976 Duplication of the middle phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009977 HP:0009977 Duplication of the proximal phalanx of the 4th finger Phenotypic_abnormality 11 HP:0009986 HP:0009986 Complete duplication of the phalanges of the 5th finger Phenotypic_abnormality 11 HP:0009987 HP:0009987 Partial duplication of the phalanges of the 5th finger Phenotypic_abnormality 11 HP:0009988 HP:0009988 Duplication of the distal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009989 HP:0009989 Duplication of the middle phalanx of the 5th finger Phenotypic_abnormality 11 HP:0009990 HP:0009990 Duplication of the proximal phalanx of the 5th finger Phenotypic_abnormality 11 HP:0010000 HP:0010000 Complete duplication of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010001 HP:0010001 Complete duplication of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010002 HP:0010002 Complete duplication of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010003 HP:0010003 Partial duplication of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010004 HP:0010004 Partial duplication of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010005 HP:0010005 Partial duplication of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010034 HP:0010034 Short 1st metacarpal Phenotypic_abnormality 11 HP:0010035 HP:0010035 Aplasia of the 1st metacarpal Phenotypic_abnormality 11 HP:0010037 HP:0010037 Aplasia of the 2nd metacarpal Phenotypic_abnormality 11 HP:0010038 HP:0010038 Short 2nd metacarpal Phenotypic_abnormality 11 HP:0010040 HP:0010040 Aplasia of the 3rd metacarpal Phenotypic_abnormality 11 HP:0010041 HP:0010041 Short 3rd metacarpal Phenotypic_abnormality 11 HP:0010043 HP:0010043 Aplasia of the 4th metacarpal Phenotypic_abnormality 11 HP:0010044 HP:0010044 Short 4th metacarpal Phenotypic_abnormality 11 HP:0010046 HP:0010046 Aplasia of the 5th metacarpal Phenotypic_abnormality 11 HP:0010047 HP:0010047 Short 5th metacarpal Phenotypic_abnormality 11 HP:0010076 HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010077 HP:0010077 Broad distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010078 HP:0010078 Bullet-shaped distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010079 HP:0010079 Curved distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010080 HP:0010080 Osteolytic defects of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010082 HP:0010082 Symphalangism affecting the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010083 HP:0010083 Triangular shaped distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010084 HP:0010084 Duplication of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010085 HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010086 HP:0010086 Broad proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010087 HP:0010087 Bullet-shaped proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010088 HP:0010088 Curved proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010089 HP:0010089 Osteolytic defects of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010090 HP:0010090 Patchy sclerosis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010091 HP:0010091 Symphalangism affecting the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010092 HP:0010092 Triangular shaped proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010093 HP:0010093 Duplication of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010100 HP:0010100 Complete duplication of hallux phalanx Phenotypic_abnormality 11 HP:0010101 HP:0010101 Partial duplication of the phalanges of the hallux Phenotypic_abnormality 11 HP:0010110 HP:0010110 Aplasia of the phalanges of the hallux Phenotypic_abnormality 11 HP:0010111 HP:0010111 Short phalanx of hallux Phenotypic_abnormality 11 HP:0010127 HP:0010127 Absent epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010128 HP:0010128 Bracket epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010129 HP:0010129 Cone-shaped epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010130 HP:0010130 Enlarged epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010131 HP:0010131 Fragmentation of the epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010132 HP:0010132 Irregular epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010133 HP:0010133 Ivory epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010134 HP:0010134 Pseudoepiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010135 HP:0010135 Small epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010136 HP:0010136 Stippling of the epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010137 HP:0010137 Triangular epiphysis of the proximal phalanx of the hallux Phenotypic_abnormality 11 HP:0010138 HP:0010138 Absent epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010139 HP:0010139 Bracket epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010140 HP:0010140 Cone-shaped epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010141 HP:0010141 Enlarged epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010142 HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010143 HP:0010143 Irregular epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010144 HP:0010144 Ivory epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010145 HP:0010145 Pseudoepiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010146 HP:0010146 Small epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010147 HP:0010147 Stippling of the epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010148 HP:0010148 Triangular epiphysis of the distal phalanx of the hallux Phenotypic_abnormality 11 HP:0010149 HP:0010149 Absent epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010150 HP:0010150 Bracket epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010152 HP:0010152 Enlarged epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010153 HP:0010153 Fragmentation of the epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010154 HP:0010154 Irregular epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010155 HP:0010155 Ivory epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010156 HP:0010156 Pseudoepiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010157 HP:0010157 Small epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010158 HP:0010158 Stippling of the epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010159 HP:0010159 Triangular epiphysis of the 1st metatarsal Phenotypic_abnormality 11 HP:0010190 HP:0010190 Patchy sclerosis of distal toe phalanx Phenotypic_abnormality 11 HP:0010199 HP:0010199 Patchy sclerosis of middle toe phalanx Phenotypic_abnormality 11 HP:0010208 HP:0010208 Patchy sclerosis of proximal toe phalanx Phenotypic_abnormality 11 HP:0010213 HP:0010213 Contracture of the tarsometatarsal joint of the hallux Phenotypic_abnormality 11 HP:0010214 HP:0010214 Contracture of the interphalangeal joint of the hallux Phenotypic_abnormality 11 HP:0010215 HP:0010215 Contractures of the metatarsophalangeal joint of the hallux Phenotypic_abnormality 11 HP:0010246 HP:0010246 Absent epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010247 HP:0010247 Bracket epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010248 HP:0010248 Cone-shaped epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010249 HP:0010249 Enlarged epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010250 HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010251 HP:0010251 Irregular epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010252 HP:0010252 Ivory epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010253 HP:0010253 Pseudoepiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010254 HP:0010254 Small epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010255 HP:0010255 Stippling of the epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010256 HP:0010256 Triangular epiphyses of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0010257 HP:0010257 Absent epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010258 HP:0010258 Bracket epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010259 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010260 HP:0010260 Enlarged epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010261 HP:0010261 Fragmentation of the epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010262 HP:0010262 Irregular epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010263 HP:0010263 Ivory epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010264 HP:0010264 Pseudoepiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010265 HP:0010265 Small epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010266 HP:0010266 Stippling of the epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010267 HP:0010267 Triangular epiphyses of the middle phalanges of the hand Phenotypic_abnormality 11 HP:0010268 HP:0010268 Absent epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010269 HP:0010269 Bracket epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010270 HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010271 HP:0010271 Enlarged epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010272 HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010273 HP:0010273 Irregular epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010274 HP:0010274 Ivory epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010275 HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010276 HP:0010276 Small epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010277 HP:0010277 Stippling of the epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010278 HP:0010278 Triangular epiphyses of the proximal phalanges of the hand Phenotypic_abnormality 11 HP:0010395 HP:0010395 Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010396 HP:0010396 Broad proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010397 HP:0010397 Bullet-shaped proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010398 HP:0010398 Curved proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010399 HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010400 HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010401 HP:0010401 Symphalangism affecting the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010402 HP:0010402 Triangular shaped proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010403 HP:0010403 Duplication of the proximal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010404 HP:0010404 Aplasia/Hypoplasia of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010405 HP:0010405 Broad middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010406 HP:0010406 Bullet-shaped middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010407 HP:0010407 Curved middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010408 HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010409 HP:0010409 Patchy sclerosis of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010410 HP:0010410 Symphalangism affecting the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010411 HP:0010411 Triangular shaped middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010412 HP:0010412 Duplication of the middle phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010413 HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010414 HP:0010414 Broad distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010415 HP:0010415 Bullet-shaped distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010416 HP:0010416 Curved distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010417 HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010419 HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010420 HP:0010420 Triangular shaped distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010421 HP:0010421 Duplication of the distal phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010428 HP:0010428 Partial duplication of phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010429 HP:0010429 Complete duplication of the phalanges of the 2nd toe Phenotypic_abnormality 11 HP:0010430 HP:0010430 Aplasia of the phalanges of the 2nd toe Phenotypic_abnormality 11 HP:0010431 HP:0010431 Short phalanx of the 2nd toe Phenotypic_abnormality 11 HP:0010441 HP:0010441 Ectopic accesory finger-like appendage Phenotypic_abnormality 11 HP:0010489 HP:0010489 Absent palmar crease Phenotypic_abnormality 11 HP:0010645 HP:0010645 Aplasia of the distal phalanges of the toes Phenotypic_abnormality 11 HP:0011052 HP:0011052 Agenesis of maxillary premolar Phenotypic_abnormality 11 HP:0011053 HP:0011053 Agenesis of mandibular premolar Phenotypic_abnormality 11 HP:0011055 HP:0011055 Agenesis of permanent molar Phenotypic_abnormality 11 HP:0011316 HP:0011316 Left unicoronal synostosis Phenotypic_abnormality 11 HP:0011317 HP:0011317 Right unicoronal synostosis Phenotypic_abnormality 11 HP:0011321 HP:0011321 Left unilambdoid synostosis Phenotypic_abnormality 11 HP:0011322 HP:0011322 Right unilambdoid synostosis Phenotypic_abnormality 11 HP:0011835 HP:0011835 Absent scaphoid Phenotypic_abnormality 11 HP:0011910 HP:0011910 Shortening of all phalanges of fingers Phenotypic_abnormality 11 HP:0011929 HP:0011929 Hypersegmentation of proximal phalanx of third finger Phenotypic_abnormality 11 HP:0011933 HP:0011933 Elongated superior cerebellar peduncle Phenotypic_abnormality 11 HP:0012313 HP:0012313 Heberden's node Phenotypic_abnormality 11 HP:0012314 HP:0012314 Bouchard's node Phenotypic_abnormality 11 HP:0009254 HP:0009254 Fragmentation of the epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009255 HP:0009255 Irregular epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009256 HP:0009256 Ivory epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009257 HP:0009257 Pseudoepiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009258 HP:0009258 Small epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009259 HP:0009259 Stippling of the epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009260 HP:0009260 Triangular epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009261 HP:0009261 Absent epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009262 HP:0009262 Bracket epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009263 HP:0009263 Cone-shaped epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009264 HP:0009264 Enlarged epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009265 HP:0009265 Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009266 HP:0009266 Irregular epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009267 HP:0009267 Ivory epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009268 HP:0009268 Pseudoepiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009269 HP:0009269 Small epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009270 HP:0009270 Stippling of the epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009271 HP:0009271 Triangular epiphysis of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009321 HP:0009321 Absent epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009322 HP:0009322 Bracket epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009323 HP:0009323 Cone-shaped epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009324 HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009325 HP:0009325 Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009326 HP:0009326 Irregular epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009327 HP:0009327 Ivory epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009328 HP:0009328 Pseudoepiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009329 HP:0009329 Small epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009330 HP:0009330 Stippling of the epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009331 HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009335 HP:0009335 Absent epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009336 HP:0009336 Bracket epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009337 HP:0009337 Cone-shaped epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009338 HP:0009338 Enlarged epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009339 HP:0009339 Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009340 HP:0009340 Irregular epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009341 HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009342 HP:0009342 Pseudoepiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009343 HP:0009343 Small epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009344 HP:0009344 Stippling of the epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009345 HP:0009345 Triangular epiphysis of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009346 HP:0009346 Absent epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009347 HP:0009347 Bracket epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009348 HP:0009348 Cone-shaped epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009349 HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009350 HP:0009350 Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009351 HP:0009351 Irregular epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009352 HP:0009352 Ivory epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009353 HP:0009353 Pseudoepiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009354 HP:0009354 Small epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009355 HP:0009355 Stippling of the epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009356 HP:0009356 Triangular epiphysis of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009379 HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx Phenotypic_abnormality 12 HP:0009502 HP:0009502 Absent epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009503 HP:0009503 Bracket epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009504 HP:0009504 Cone-shaped epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009505 HP:0009505 Enlarged epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009506 HP:0009506 Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009507 HP:0009507 Irregular epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009508 HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009509 HP:0009509 Pseudoepiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009510 HP:0009510 Small epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009511 HP:0009511 Stippling of the epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009512 HP:0009512 Triangular epiphysis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009513 HP:0009513 Absent epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009514 HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009515 HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009516 HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009517 HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009518 HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009519 HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009520 HP:0009520 Pseudoepiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009521 HP:0009521 Small epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009522 HP:0009522 Stippling of the epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009523 HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009524 HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009525 HP:0009525 Bracket epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009526 HP:0009526 Cone-shaped epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009527 HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009528 HP:0009528 Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009529 HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009530 HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009531 HP:0009531 Pseudoepiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009532 HP:0009532 Small epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009533 HP:0009533 Stippling of the epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009534 HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009557 HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009558 HP:0009558 Broad distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009562 HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009568 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009569 HP:0009569 Broad middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009573 HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009580 HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009581 HP:0009581 Broad proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009585 HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009606 HP:0009606 Complete duplication of distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009608 HP:0009608 Complete duplication of proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009611 HP:0009611 Bifid distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009614 HP:0009614 Bifid proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009615 HP:0009615 Complete duplication of the first metacarpal Phenotypic_abnormality 12 HP:0009616 HP:0009616 Bifid first metacarpal Phenotypic_abnormality 12 HP:0009629 HP:0009629 Aplasia/Hypoplasia of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009630 HP:0009630 Broad proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009634 HP:0009634 Patchy sclerosis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009637 HP:0009637 Absent proximal phalanx of thumb Phenotypic_abnormality 12 HP:0009638 HP:0009638 Short proximal phalanx of thumb Phenotypic_abnormality 12 HP:0009641 HP:0009641 Aplasia/Hypoplasia of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009642 HP:0009642 Broad distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009646 HP:0009646 Patchy sclerosis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009649 HP:0009649 Aplasia of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009650 HP:0009650 Short distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009664 HP:0009664 Absent epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009665 HP:0009665 Bracket epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009666 HP:0009666 Cone-shaped epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009667 HP:0009667 Enlarged epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009668 HP:0009668 Fragmentation of the epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009669 HP:0009669 Irregular epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009670 HP:0009670 Ivory epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009671 HP:0009671 Pseudoepiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009672 HP:0009672 Small epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009673 HP:0009673 Stippling of the epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009674 HP:0009674 Triangular epiphysis of the proximal phalanx of the thumb Phenotypic_abnormality 12 HP:0009675 HP:0009675 Absent epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009676 HP:0009676 Bracket epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009677 HP:0009677 Cone-shaped epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009678 HP:0009678 Enlarged epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009679 HP:0009679 Fragmentation of the epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009680 HP:0009680 Irregular epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009681 HP:0009681 Ivory epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009682 HP:0009682 Pseudoepiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009683 HP:0009683 Small epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009684 HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009685 HP:0009685 Triangular epiphysis of the distal phalanx of the thumb Phenotypic_abnormality 12 HP:0009950 HP:0009950 Complete duplication of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009951 HP:0009951 Partial duplication of the distal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009952 HP:0009952 Complete duplication of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009953 HP:0009953 Partial duplication of the middle phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009954 HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009955 HP:0009955 Partial duplication of the proximal phalanx of the 2nd finger Phenotypic_abnormality 12 HP:0009965 HP:0009965 Complete duplication of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009966 HP:0009966 Complete duplication of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009967 HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009968 HP:0009968 Partial duplication of the distal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009969 HP:0009969 Partial duplication of the middle phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009970 HP:0009970 Partial duplication of the proximal phalanx of the 3rd finger Phenotypic_abnormality 12 HP:0009978 HP:0009978 Complete duplication of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009979 HP:0009979 Complete duplication of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009980 HP:0009980 Complete duplication of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009981 HP:0009981 Partial duplication of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009982 HP:0009982 Partial duplication of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009983 HP:0009983 Partial duplication of the proximal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009991 HP:0009991 Complete duplication of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009992 HP:0009992 Complete duplication of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009993 HP:0009993 Complete duplication of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009994 HP:0009994 Partial duplication of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009995 HP:0009995 Partial duplication of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009996 HP:0009996 Partial duplication of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0010081 HP:0010081 Patchy sclerosis of the distal phalanx of the hallux Phenotypic_abnormality 12 HP:0010094 HP:0010094 Complete duplication of the proximal phalanx of the hallux Phenotypic_abnormality 12 HP:0010095 HP:0010095 Partial duplication of the proximal phalanx of the hallux Phenotypic_abnormality 12 HP:0010096 HP:0010096 Complete duplication of the distal phalanx of the hallux Phenotypic_abnormality 12 HP:0010097 HP:0010097 Partial duplication of the distal phalanx of the hallux Phenotypic_abnormality 12 HP:0010102 HP:0010102 Aplasia of the distal phalanx of the hallux Phenotypic_abnormality 12 HP:0010106 HP:0010106 Aplasia of the proximal phalanx of the hallux Phenotypic_abnormality 12 HP:0010418 HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010422 HP:0010422 Complete duplication of the proximal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010423 HP:0010423 Partial duplication of the proximal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010424 HP:0010424 Complete duplication of the distal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010425 HP:0010425 Partial duplication of the distal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010426 HP:0010426 Complete duplication of the middle phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010427 HP:0010427 Partial duplication of the middle phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010432 HP:0010432 Absent distal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010433 HP:0010433 Short distal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010434 HP:0010434 Aplasia of the middle phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010435 HP:0010435 Short middle phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010436 HP:0010436 Aplasia of the proximal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0010437 HP:0010437 Short proximal phalanx of the 2nd toe Phenotypic_abnormality 12 HP:0011049 HP:0011049 Agenesis of primary maxillary lateral incisor Phenotypic_abnormality 12 HP:0011050 HP:0011050 Agenesis of permanent maxillary lateral incisor Phenotypic_abnormality 12 HP:0011056 HP:0011056 Agenesis of first permanent molar tooth Phenotypic_abnormality 12 HP:0011057 HP:0011057 Agenesis of second permanent molar Phenotypic_abnormality 12 HP:0004261 HP:0004261 Wide hamate bone Phenotypic_abnormality 12 HP:0005617 HP:0005617 Bilateral camptodactyly Phenotypic_abnormality 12 HP:0005676 HP:0005676 Rudimentary postaxial polydactyly of hands Phenotypic_abnormality 12 HP:0005688 HP:0005688 Dysplastic distal thumb phalanges with a central hole Phenotypic_abnormality 12 HP:0005696 HP:0005696 Postaxial polydactyly type A Phenotypic_abnormality 12 HP:0005707 HP:0005707 Bilateral triphalangeal thumbs Phenotypic_abnormality 12 HP:0005725 HP:0005725 Nonopposable triphalangeal thumb Phenotypic_abnormality 12 HP:0005793 HP:0005793 Shortening of all distal phalanges of the toes Phenotypic_abnormality 12 HP:0005848 HP:0005848 Bifid thumb distal phalanx Phenotypic_abnormality 12 HP:0005866 HP:0005866 Opposable triphalangeal thumb Phenotypic_abnormality 12 HP:0005895 HP:0005895 Radial deviation of thumb terminal phalanx Phenotypic_abnormality 12 HP:0005910 HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx Phenotypic_abnormality 12 HP:0006110 HP:0006110 Shortening of all middle phalanges of the fingers Phenotypic_abnormality 12 HP:0006118 HP:0006118 Shortening of all distal phalanges of the fingers Phenotypic_abnormality 12 HP:0006136 HP:0006136 Bilateral postaxial polydactyly Phenotypic_abnormality 12 HP:0006144 HP:0006144 Shortening of all proximal phalanges of the fingers Phenotypic_abnormality 12 HP:0006200 HP:0006200 Widened distal phalanges Phenotypic_abnormality 12 HP:0006206 HP:0006206 Hypersegmentation of proximal phalanx of second finger Phenotypic_abnormality 12 HP:0006293 HP:0006293 Agenesis of maxillary central incisor Phenotypic_abnormality 12 HP:0006355 HP:0006355 Agenesis of mandibular central incisor Phenotypic_abnormality 12 HP:0006849 HP:0006849 Hypodysplasia of the corpus callosum Phenotypic_abnormality 12 HP:0007068 HP:0007068 Inferior vermis hypoplasia Phenotypic_abnormality 12 HP:0009147 HP:0009147 Enlarged epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009148 HP:0009148 Small epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009149 HP:0009149 Triangular epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009154 HP:0009154 Triangular epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009155 HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009157 HP:0009157 Ivory epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009158 HP:0009158 Enlarged epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009159 HP:0009159 Small epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009160 HP:0009160 Absent epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009165 HP:0009165 Stippling of the epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009166 HP:0009166 Fragmentation of the epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009167 HP:0009167 Irregular epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009187 HP:0009187 Bracket epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009188 HP:0009188 Pseudoepiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009197 HP:0009197 Bracket epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009199 HP:0009199 Irregular epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009200 HP:0009200 Pseudoepiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009201 HP:0009201 Stippling of the epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009202 HP:0009202 Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009203 HP:0009203 Absent epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009204 HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009205 HP:0009205 Cone-shaped epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009206 HP:0009206 Enlarged epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009207 HP:0009207 Fragmentation of the epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009208 HP:0009208 Irregular epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009209 HP:0009209 Ivory epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009210 HP:0009210 Pseudoepiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009211 HP:0009211 Small epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009212 HP:0009212 Stippling of the epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009213 HP:0009213 Triangular epiphysis of the middle phalanx of the 5th finger Phenotypic_abnormality 12 HP:0009214 HP:0009214 Absent epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009215 HP:0009215 Bracket epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009216 HP:0009216 Cone-shaped epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009217 HP:0009217 Enlarged epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009218 HP:0009218 Fragmentation of the epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009219 HP:0009219 Irregular epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009220 HP:0009220 Ivory epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009221 HP:0009221 Pseudoepiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009222 HP:0009222 Small epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009223 HP:0009223 Stippling of the epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009224 HP:0009224 Triangular epiphysis of the middle phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009236 HP:0009236 Rhomboid or triangular shaped 5th finger proximal phalanx Phenotypic_abnormality 12 HP:0009250 HP:0009250 Absent epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009251 HP:0009251 Bracket epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009252 HP:0009252 Cone-shaped epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0009253 HP:0009253 Enlarged epiphysis of the distal phalanx of the 4th finger Phenotypic_abnormality 12 HP:0001215 HP:0001215 Camptodactyly of 2nd-5th fingers Phenotypic_abnormality 12 HP:0001338 HP:0001338 Partial agenesis of the corpus callosum Phenotypic_abnormality 12 HP:0002340 HP:0002340 Caudate atrophy Phenotypic_abnormality 12 HP:0003696 HP:0003696 Absent epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0004222 HP:0004222 Cone-shaped epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0004223 HP:0004223 Ivory epiphysis of the distal phalanx of the 5th finger Phenotypic_abnormality 12 HP:0100378 HP:0100378 Absent distal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100379 HP:0100379 Aplasia of the distal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100380 HP:0100380 Aplasia of the distal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100381 HP:0100381 Absent middle phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100382 HP:0100382 Aplasia of the middle phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100383 HP:0100383 Aplasia of the middle phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100384 HP:0100384 Absent proximal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100385 HP:0100385 Aplasia of the proximal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100386 HP:0100386 Aplasia of the proximal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100389 HP:0100389 Short distal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100390 HP:0100390 Short distal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100391 HP:0100391 Short distal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100392 HP:0100392 Short middle phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100393 HP:0100393 Short middle phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100394 HP:0100394 Short middle phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100395 HP:0100395 Short proximal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100396 HP:0100396 Short proximal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100397 HP:0100397 Short proximal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100407 HP:0100407 Complete duplication of the distal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100408 HP:0100408 Complete duplication of the distal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100409 HP:0100409 Complete duplication of the distal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100410 HP:0100410 Complete duplication of the middle phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100411 HP:0100411 Complete duplication of the middle phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100412 HP:0100412 Complete duplication of the middle phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100413 HP:0100413 Complete duplication of the proximal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100414 HP:0100414 Complete duplication of the proximal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100415 HP:0100415 Complete duplication of the proximal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100416 HP:0100416 Partial duplication of the distal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100417 HP:0100417 Partial duplication of the distal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100418 HP:0100418 Partial duplication of the distal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100419 HP:0100419 Partial duplication of the middle phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100420 HP:0100420 Partial duplication of the middle phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100421 HP:0100421 Partial duplication of the middle phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100422 HP:0100422 Partial duplication of the proximal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100423 HP:0100423 Partial duplication of the proximal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100424 HP:0100424 Partial duplication of the proximal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100461 HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100462 HP:0100462 Patchy sclerosis of the middle phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100463 HP:0100463 Patchy sclerosis of the middle phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100464 HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100465 HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100466 HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0100467 HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toe Phenotypic_abnormality 12 HP:0100468 HP:0100468 Patchy sclerosis of the distal phalanx of the 4th toe Phenotypic_abnormality 12 HP:0100469 HP:0100469 Patchy sclerosis of the distal phalanx of the 5th toe Phenotypic_abnormality 12 HP:0010103 HP:0010103 Short distal phalanx of hallux Phenotypic_abnormality 13 HP:0010107 HP:0010107 Short proximal phalanx of hallux Phenotypic_abnormality 13 HP:0011045 HP:0011045 Agenesis of permanent maxillary central incisor Phenotypic_abnormality 13 HP:0011046 HP:0011046 Agenesis of primary maxillary central incisor Phenotypic_abnormality 13 HP:0011047 HP:0011047 Agenesis of primary mandibular central incisor Phenotypic_abnormality 13 HP:0011048 HP:0011048 Agenesis of permanent mandibular central incisor Phenotypic_abnormality 13 HP:0006095 HP:0006095 Wide tufts of distal phalanges Phenotypic_abnormality 13 HP:0006112 HP:0006112 Expanded phalanges with widened medullary cavities Phenotypic_abnormality 13 HP:0001222 HP:0001222 Spatulate thumbs Phenotypic_abnormality 14 HP:0009880 HP:0009880 Broad distal phalanges of all fingers Phenotypic_abnormality 14