ID Name Namespace Distance HP:0000006 Autosomal dominant inheritance Mode_of_inheritance 2 HP:0000951 Abnormality of the skin Phenotypic_abnormality 3 HP:0000952 Jaundice Phenotypic_abnormality 6 HP:0000961 Cyanosis Phenotypic_abnormality 4 HP:0001005 Dermatological manifestations of systemic disorders Phenotypic_abnormality 5 HP:0001392 Abnormality of the liver Phenotypic_abnormality 4 HP:0001396 Cholestasis Phenotypic_abnormality 6 HP:0001438 Abnormality of the abdomen Phenotypic_abnormality 2 HP:0001574 Abnormality of the integument Phenotypic_abnormality 2 HP:0001743 Abnormality of the spleen Phenotypic_abnormality 4 HP:0001744 Splenomegaly Phenotypic_abnormality 5 HP:0001871 Abnormality of blood and blood-forming tissues Phenotypic_abnormality 2 HP:0001877 Abnormality of erythrocytes Phenotypic_abnormality 3 HP:0001878 Hemolytic anemia Phenotypic_abnormality 6 HP:0001903 Anemia Phenotypic_abnormality 4 HP:0001930 Nonspherocytic hemolytic anemia Phenotypic_abnormality 7 HP:0001935 Microcytic anemia Phenotypic_abnormality 6 HP:0001939 Abnormality of metabolism/homeostasis Phenotypic_abnormality 2 HP:0001971 Hypersplenism Phenotypic_abnormality 5 HP:0002012 Abnormality of the abdominal organs Phenotypic_abnormality 3 HP:0002086 Abnormality of the respiratory system Phenotypic_abnormality 2 HP:0002715 Abnormality of the immune system Phenotypic_abnormality 2 HP:0002795 Functional respiratory abnormality Phenotypic_abnormality 3 HP:0003271 Visceromegaly Phenotypic_abnormality 4 HP:0004297 Abnormality of the biliary system Phenotypic_abnormality 5 HP:0010472 Abnormality of the heme biosynthetic pathway Phenotypic_abnormality 3 HP:0010972 Anemia of inadequate production Phenotypic_abnormality 5 HP:0011354 Generalized abnormality of skin Phenotypic_abnormality 4 HP:0011895 Anemia due to reduced life span of red cells Phenotypic_abnormality 5 HP:0011902 Abnormal hemoglobin Phenotypic_abnormality 4 HP:0100763 Abnormality of the lymphatic system Phenotypic_abnormality 3 HP:0000707 Abnormality of the nervous system Phenotypic_abnormality 2 HP:0000152 Abnormality of head and neck Phenotypic_abnormality 2 HP:0000234 Abnormality of the head Phenotypic_abnormality 3 HP:0000478 Abnormality of the eye Phenotypic_abnormality 2 HP:0000924 Abnormality of the skeletal system Phenotypic_abnormality 2 HP:0001155 Abnormality of the hand Phenotypic_abnormality 7 HP:0002088 Abnormality of the lung Phenotypic_abnormality 4 HP:0002813 Abnormality of limb bone morphology Phenotypic_abnormality 5 HP:0002817 Abnormality of the upper limb Phenotypic_abnormality 6 HP:0011121 Abnormality of skin morphology Phenotypic_abnormality 5 HP:0011842 Abnormality of skeletal morphology Phenotypic_abnormality 3 HP:0011844 Abnormal appendicular skeleton morphology Phenotypic_abnormality 4 HP:0012252 Abnormal respiratory system morphology Phenotypic_abnormality 3 HP:0000587 Abnormality of the optic nerve Phenotypic_abnormality 7 HP:0000609 Optic nerve hypoplasia Phenotypic_abnormality 6 HP:0001098 Abnormality of the fundus Phenotypic_abnormality 6 HP:0002011 Morphological abnormality of the central nervous system Phenotypic_abnormality 4 HP:0002977 Aplasia/Hypoplasia involving the central nervous system Phenotypic_abnormality 5 HP:0004329 Abnormality of the posterior segment of the eye Phenotypic_abnormality 5 HP:0008056 Aplasia/Hypoplasia affecting the eye Phenotypic_abnormality 5 HP:0008057 Aplasia/Hypoplasia affecting the fundus Phenotypic_abnormality 6 HP:0008058 Aplasia/Hypoplasia of the optic nerve Phenotypic_abnormality 8 HP:0012372 Abnormal eye morphology Phenotypic_abnormality 3 HP:0012374 Abnormality of the globe Phenotypic_abnormality 4 HP:0012639 Abnormality of nervous system morphology Phenotypic_abnormality 3 HP:0000028 Cryptorchidism Phenotypic_abnormality 8 HP:0000032 Abnormality of male external genitalia Phenotypic_abnormality 6 HP:0000035 Abnormality of the testis Phenotypic_abnormality 7 HP:0000078 Abnormality of the genital system Phenotypic_abnormality 3 HP:0000119 Abnormality of the genitourinary system Phenotypic_abnormality 2 HP:0000153 Abnormality of the mouth Phenotypic_abnormality 5 HP:0000271 Abnormality of the face Phenotypic_abnormality 4 HP:0000288 Abnormality of the philtrum Phenotypic_abnormality 6 HP:0000811 Abnormal external genitalia Phenotypic_abnormality 5 HP:0001167 Abnormality of finger Phenotypic_abnormality 7 HP:0001367 Abnormal joint morphology Phenotypic_abnormality 4 HP:0001595 Abnormality of the hair Phenotypic_abnormality 4 HP:0002814 Abnormality of the lower limb Phenotypic_abnormality 6 HP:0005918 Abnormality of phalanx of finger Phenotypic_abnormality 9 HP:0005927 Aplasia/hypoplasia involving bones of the hand Phenotypic_abnormality 8 HP:0006265 Aplasia/Hypoplasia of fingers Phenotypic_abnormality 9 HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs Phenotypic_abnormality 7 HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs Phenotypic_abnormality 7 HP:0009115 Aplasia/hypoplasia involving the skeleton Phenotypic_abnormality 4 HP:0009381 Short finger Phenotypic_abnormality 8 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand Phenotypic_abnormality 10 HP:0009803 Short phalanx of finger Phenotypic_abnormality 11 HP:0009810 Abnormality of the joints of the upper limbs Phenotypic_abnormality 5 HP:0009815 Aplasia/hypoplasia of the extremities Phenotypic_abnormality 5 HP:0009832 Abnormality of the distal phalanx of finger Phenotypic_abnormality 10 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand Phenotypic_abnormality 11 HP:0009882 Short distal phalanx of finger Phenotypic_abnormality 11 HP:0010461 Abnormality of the male genitalia Phenotypic_abnormality 5 HP:0011138 Abnormality of skin adnexa Phenotypic_abnormality 3 HP:0011297 Abnormality of digit Phenotypic_abnormality 6 HP:0011362 Abnormal hair quantity Phenotypic_abnormality 5 HP:0011927 Short digit Phenotypic_abnormality 7 HP:0012243 Abnormal genital system morphology Phenotypic_abnormality 4 HP:0002664 Neoplasm Phenotypic_abnormality 2 HP:0012638 Abnormality of nervous system physiology Phenotypic_abnormality 3 HP:0001324 Muscle weakness Phenotypic_abnormality 4 HP:0003011 Abnormality of the musculature Phenotypic_abnormality 2 HP:0003560 Muscular dystrophy Phenotypic_abnormality 4 HP:0003674 Onset Onset_and_clinical_course 2 HP:0003701 Proximal muscle weakness Phenotypic_abnormality 5 HP:0010876 Abnormality of circulating protein level Phenotypic_abnormality 3 HP:0011007 Age of onset Onset_and_clinical_course 3 HP:0011021 Abnormality of circulating enzyme level Phenotypic_abnormality 4 HP:0011463 Childhood onset Onset_and_clinical_course 4 HP:0011804 Abnormality of muscle physiology Phenotypic_abnormality 3 HP:0011805 Abnormality of muscle morphology Phenotypic_abnormality 3 HP:0000007 Autosomal recessive inheritance Mode_of_inheritance 2 HP:0001249 Intellectual disability Phenotypic_abnormality 5 HP:0001251 Ataxia Phenotypic_abnormality 6 HP:0001252 Muscular hypotonia Phenotypic_abnormality 5 HP:0001317 Abnormality of the cerebellum Phenotypic_abnormality 8 HP:0001941 Acidosis Phenotypic_abnormality 4 HP:0003128 Lactic acidosis Phenotypic_abnormality 5 HP:0003808 Abnormal muscle tone Phenotypic_abnormality 4 HP:0004360 Abnormality of acid-base homeostasis Phenotypic_abnormality 3 HP:0007256 Abnormality of pyramidal motor function Phenotypic_abnormality 5 HP:0011282 Abnormality of hindbrain morphology Phenotypic_abnormality 6 HP:0011283 Abnormality of the metencephalon Phenotypic_abnormality 7 HP:0011442 Abnormality of central motor function Phenotypic_abnormality 4 HP:0011443 Abnormality of coordination Phenotypic_abnormality 5 HP:0012443 Abnormality of brain morphology Phenotypic_abnormality 5 HP:0012759 Neurodevelopmental abnormality Phenotypic_abnormality 4 HP:0100547 Abnormality of forebrain morphology Phenotypic_abnormality 6 HP:0000359 Abnormality of the inner ear Phenotypic_abnormality 3 HP:0000598 Abnormality of the ear Phenotypic_abnormality 2 HP:0001751 Vestibular dysfunction Phenotypic_abnormality 5 HP:0002321 Vertigo Phenotypic_abnormality 6 HP:0011389 Functional abnormality of the inner ear Phenotypic_abnormality 4 HP:0000079 Abnormality of the urinary system Phenotypic_abnormality 3 HP:0001254 Lethargy Phenotypic_abnormality 6 HP:0001397 Hepatic steatosis Phenotypic_abnormality 5 HP:0001943 Hypoglycemia Phenotypic_abnormality 6 HP:0001992 Organic aciduria Phenotypic_abnormality 7 HP:0003110 Abnormality of urine homeostasis Phenotypic_abnormality 3 HP:0003119 Abnormality of lipid metabolism Phenotypic_abnormality 3 HP:0003215 Dicarboxylic aciduria Phenotypic_abnormality 5 HP:0003234 Decreased plasma carnitine Phenotypic_abnormality 6 HP:0003287 Abnormality of mitochondrial metabolism Phenotypic_abnormality 5 HP:0004354 Abnormality of carboxylic acid metabolism Phenotypic_abnormality 3 HP:0004359 Abnormality of fatty-acid metabolism Phenotypic_abnormality 4 HP:0004372 Reduced consciousness/confusion Phenotypic_abnormality 5 HP:0010966 Abnormality of fatty-acid anion metabolism Phenotypic_abnormality 5 HP:0010967 Abnormality of carnitine metabolism Phenotypic_abnormality 6 HP:0010995 Abnormality of dicarboxylic acid metabolism Phenotypic_abnormality 4 HP:0011013 Abnormality of carbohydrate metabolism/homeostasis Phenotypic_abnormality 3 HP:0011014 Abnormal glucose homeostasis Phenotypic_abnormality 4 HP:0011015 Abnormality of blood glucose concentration Phenotypic_abnormality 5 HP:0011017 Abnormality of cell physiology Phenotypic_abnormality 3 HP:0011277 Abnormality of the urinary system physiology Phenotypic_abnormality 4 HP:0011446 Abnormality of higher mental function Phenotypic_abnormality 4 HP:0012072 Aciduria Phenotypic_abnormality 6 HP:0012103 Abnormality of the mitochondrion Phenotypic_abnormality 4 HP:0000284 Abnormality of the ocular region Phenotypic_abnormality 5 HP:0000492 Abnormality of the eyelid Phenotypic_abnormality 6 HP:0000494 Downslanted palpebral fissures Phenotypic_abnormality 9 HP:0000499 Abnormality of the eyelashes Phenotypic_abnormality 5 HP:0000534 Abnormality of the eyebrow Phenotypic_abnormality 5 HP:0000606 Abnormality of the periorbital region Phenotypic_abnormality 5 HP:0000750 Delayed speech and language development Phenotypic_abnormality 6 HP:0000998 Hypertrichosis Phenotypic_abnormality 6 HP:0001217 Clubbing Phenotypic_abnormality 7 HP:0001760 Abnormality of the foot Phenotypic_abnormality 7 HP:0001780 Abnormality of toe Phenotypic_abnormality 7 HP:0008050 Abnormality of the palpebral fissures Phenotypic_abnormality 7 HP:0010161 Abnormality of the phalanges of the toes Phenotypic_abnormality 9 HP:0012758 Neurodevelopmental delay Phenotypic_abnormality 5 HP:0100760 Clubbing of toes Phenotypic_abnormality 8 HP:0200006 Slanting of the palpebral fissure Phenotypic_abnormality 8 HP:0000269 Prominent occiput Phenotypic_abnormality 9 HP:0000290 Abnormality of the forehead Phenotypic_abnormality 5 HP:0000337 Broad forehead Phenotypic_abnormality 6 HP:0000356 Abnormality of the outer ear Phenotypic_abnormality 3 HP:0000357 Abnormal location of ears Phenotypic_abnormality 4 HP:0000358 Posteriorly rotated ears Phenotypic_abnormality 5 HP:0000929 Abnormality of the skull Phenotypic_abnormality 4 HP:0002648 Abnormality of calvarial morphology Phenotypic_abnormality 7 HP:0002683 Abnormality of the calvaria Phenotypic_abnormality 6 HP:0009121 Abnormal axial skeleton morphology Phenotypic_abnormality 4 HP:0011217 Abnormal shape of the occiput Phenotypic_abnormality 8 HP:0002093 Respiratory insufficiency Phenotypic_abnormality 4 HP:0010978 Abnormality of immune system physiology Phenotypic_abnormality 3 HP:0003202 Amyotrophy Phenotypic_abnormality 4 HP:0003693 Distal amyotrophy Phenotypic_abnormality 5 HP:0000818 Abnormality of the endocrine system Phenotypic_abnormality 2 HP:0000840 Adrenogenital syndrome Phenotypic_abnormality 4 HP:0003155 Elevated alkaline phosphatase Phenotypic_abnormality 5 HP:0003623 Neonatal onset Onset_and_clinical_course 4 HP:0004379 Abnormality of alkaline phosphatase activity Phenotypic_abnormality 4 HP:0008373 Puberty and gonadal disorders Phenotypic_abnormality 3 HP:0012379 Abnormal enzyme/coenzyme activity Phenotypic_abnormality 3 HP:0002861 Melanoma Phenotypic_abnormality 4 HP:0011792 Neoplasm by histology Phenotypic_abnormality 3 HP:0000077 Abnormality of the kidney Phenotypic_abnormality 5 HP:0000369 Low-set ears Phenotypic_abnormality 5 HP:0000479 Abnormality of the retina Phenotypic_abnormality 7 HP:0000517 Abnormality of the lens Phenotypic_abnormality 6 HP:0000518 Cataract Phenotypic_abnormality 7 HP:0000932 Abnormality of the posterior cranial fossa Phenotypic_abnormality 7 HP:0001007 Hirsutism Phenotypic_abnormality 6 HP:0001161 Hand polydactyly Phenotypic_abnormality 8 HP:0001162 Postaxial hand polydactyly Phenotypic_abnormality 9 HP:0001305 Dandy-Walker malformation Phenotypic_abnormality 9 HP:0001320 Cerebellar vermis hypoplasia Phenotypic_abnormality 12 HP:0001395 Hepatic fibrosis Phenotypic_abnormality 5 HP:0001399 Hepatic failure Phenotypic_abnormality 6 HP:0001410 Decreased liver function Phenotypic_abnormality 5 HP:0001507 Growth abnormality Phenotypic_abnormality 2 HP:0001626 Abnormality of the cardiovascular system Phenotypic_abnormality 2 HP:0001627 Abnormality of cardiac morphology Phenotypic_abnormality 3 HP:0001711 Abnormality of the left ventricle Phenotypic_abnormality 6 HP:0001712 Left ventricular hypertrophy Phenotypic_abnormality 7 HP:0001713 Abnormality of cardiac ventricle Phenotypic_abnormality 5 HP:0001714 Ventricular hypertrophy Phenotypic_abnormality 6 HP:0001829 Foot polydactyly Phenotypic_abnormality 8 HP:0002118 Abnormality of the cerebral ventricles Phenotypic_abnormality 6 HP:0002119 Ventriculomegaly Phenotypic_abnormality 7 HP:0002198 Dilated fourth ventricle Phenotypic_abnormality 8 HP:0002334 Abnormality of the cerebellar vermis Phenotypic_abnormality 10 HP:0002350 Cerebellar cyst Phenotypic_abnormality 6 HP:0002438 Cerebellar malformation Phenotypic_abnormality 9 HP:0002564 Malformation of the heart and great vessels Phenotypic_abnormality 4 HP:0002693 Abnormality of the skull base Phenotypic_abnormality 6 HP:0004207 Abnormality of the 5th finger Phenotypic_abnormality 9 HP:0004275 Duplication of hand bones Phenotypic_abnormality 8 HP:0004328 Abnormality of the anterior segment of the eye Phenotypic_abnormality 5 HP:0005445 Widened posterior fossa Phenotypic_abnormality 8 HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis Phenotypic_abnormality 11 HP:0007703 Abnormal retinal pigmentation Phenotypic_abnormality 9 HP:0008051 Abnormality of the retinal pigment epithelium Phenotypic_abnormality 8 HP:0009136 Duplication involving bones of the feet Phenotypic_abnormality 8 HP:0009142 Duplication of bones involving the upper extremities Phenotypic_abnormality 7 HP:0009997 Duplication of phalanx of hand Phenotypic_abnormality 9 HP:0010442 Polydactyly Phenotypic_abnormality 7 HP:0010576 Intracranial cystic lesion Phenotypic_abnormality 5 HP:0010935 Abnormality of the upper urinary tract Phenotypic_abnormality 4 HP:0010950 Abnormality of the fourth ventricle Phenotypic_abnormality 7 HP:0011024 Abnormality of the gastrointestinal tract Phenotypic_abnormality 4 HP:0012718 Morphological abnormality of the gastrointestinal tract Phenotypic_abnormality 5 HP:0100259 Postaxial polydactyly Phenotypic_abnormality 8 HP:0000008 Abnormality of female internal genitalia Phenotypic_abnormality 6 HP:0000140 Abnormality of the menstrual cycle Phenotypic_abnormality 4 HP:0000141 Amenorrhea Phenotypic_abnormality 8 HP:0000786 Primary amenorrhea Phenotypic_abnormality 9 HP:0000812 Abnormal internal genitalia Phenotypic_abnormality 5 HP:0010460 Abnormality of the female genitalia Phenotypic_abnormality 5 HP:0000512 Abnormal electroretinogram Phenotypic_abnormality 8 HP:0001513 Obesity Phenotypic_abnormality 5 HP:0004323 Abnormality of body weight Phenotypic_abnormality 3 HP:0004324 Increased body weight Phenotypic_abnormality 4 HP:0001250 Seizures Phenotypic_abnormality 4 HP:0001263 Global developmental delay Phenotypic_abnormality 6 HP:0001695 Cardiac arrest Phenotypic_abnormality 5 HP:0011025 Abnormality of cardiovascular system physiology Phenotypic_abnormality 3 HP:0011675 Arrhythmia Phenotypic_abnormality 4 HP:0000235 Abnormality of the fontanelles and cranial sutures Phenotypic_abnormality 7 HP:0000377 Abnormality of the pinna Phenotypic_abnormality 4 HP:0000396 Overfolded helix Phenotypic_abnormality 7 HP:0000481 Abnormality of the cornea Phenotypic_abnormality 6 HP:0000495 Recurrent corneal erosions Phenotypic_abnormality 9 HP:0000925 Abnormality of the vertebral column Phenotypic_abnormality 5 HP:0001191 Abnormality of the carpal bones Phenotypic_abnormality 8 HP:0001363 Craniosynostosis Phenotypic_abnormality 8 HP:0001831 Short toe Phenotypic_abnormality 8 HP:0001850 Abnormality of the tarsal bones Phenotypic_abnormality 8 HP:0001991 Aplasia/Hypoplasia of toe Phenotypic_abnormality 9 HP:0002676 Cloverleaf skull Phenotypic_abnormality 8 HP:0003019 Abnormality of the wrist Phenotypic_abnormality 8 HP:0003307 Hyperlordosis Phenotypic_abnormality 7 HP:0003795 Short middle phalanx of toe Phenotypic_abnormality 11 HP:0004278 Synostosis involving bones of the hand Phenotypic_abnormality 8 HP:0004440 Coronal craniosynostosis Phenotypic_abnormality 10 HP:0005048 Synostosis of carpal bones Phenotypic_abnormality 11 HP:0006494 Aplasia/Hypoplasia involving bones of the feet Phenotypic_abnormality 8 HP:0008544 Abnormally folded helix Phenotypic_abnormality 6 HP:0009702 Carpal synostosis Phenotypic_abnormality 8 HP:0010674 Abnormality of the curvature of the vertebral column Phenotypic_abnormality 6 HP:0011039 Abnormality of the helix Phenotypic_abnormality 5 HP:0011329 Abnormality of cranial sutures Phenotypic_abnormality 8 HP:0011495 Abnormality of corneal epithelium Phenotypic_abnormality 7 HP:0011729 Abnormality of joint mobility Phenotypic_abnormality 5 HP:0100238 Synostosis involving bones of the upper limbs Phenotypic_abnormality 7 HP:0100240 Synostosis of joints Phenotypic_abnormality 6 HP:0100266 Synostosis of carpals/tarsals Phenotypic_abnormality 7 HP:0200020 Corneal erosion Phenotypic_abnormality 8 HP:0002754 Osteomyelitis Phenotypic_abnormality 4 HP:0005661 Salmonella osteomyelitis Phenotypic_abnormality 5 HP:0011843 Abnormality of skeletal physiology Phenotypic_abnormality 3 HP:0100725 Lichenification Phenotypic_abnormality 6 HP:0000962 Hyperkeratosis Phenotypic_abnormality 8 HP:0001072 Thickened skin Phenotypic_abnormality 6 HP:0011368 Epidermal thickening Phenotypic_abnormality 7 HP:0003677 Slow progression Onset_and_clinical_course 3 HP:0003679 Pace of progression Onset_and_clinical_course 2 HP:0010920 Zonular cataract Phenotypic_abnormality 8 HP:0002960 Autoimmunity Phenotypic_abnormality 4 HP:0001646 Abnormality of the aortic valve Phenotypic_abnormality 6 HP:0001654 Abnormality of the heart valves Phenotypic_abnormality 5 HP:0002597 Abnormality of the vasculature Phenotypic_abnormality 3 HP:0011004 Abnormality of the systemic arterial tree Phenotypic_abnormality 4 HP:0011276 Vascular skin abnormality Phenotypic_abnormality 5 HP:0000759 Abnormality of the peripheral nervous system Phenotypic_abnormality 4 HP:0000764 Peripheral axonal degeneration Phenotypic_abnormality 5 HP:0001265 Hyporeflexia Phenotypic_abnormality 5 HP:0001315 Reduced tendon reflexes Phenotypic_abnormality 4 HP:0000510 Retinitis pigmentosa Phenotypic_abnormality 10 HP:0000987 Atypical scarring of skin Phenotypic_abnormality 4 HP:0003549 Abnormality of connective tissue Phenotypic_abnormality 2 HP:0100699 Scarring Phenotypic_abnormality 3 HP:0001287 Meningitis Phenotypic_abnormality 6 HP:0001581 Recurrent skin infections Phenotypic_abnormality 7 HP:0002718 Recurrent bacterial infections Phenotypic_abnormality 5 HP:0002719 Recurrent infections Phenotypic_abnormality 4 HP:0002722 Recurrent abscess formation Phenotypic_abnormality 5 HP:0005406 Recurrent bacterial skin infections Phenotypic_abnormality 6 HP:0006536 Obstructive lung disease Phenotypic_abnormality 5 HP:0011122 Abnormality of skin physiology Phenotypic_abnormality 5 HP:0011123 Inflammatory abnormality of the skin Phenotypic_abnormality 6 HP:0011450 CNS infection Phenotypic_abnormality 5 HP:0100523 Liver abscess Phenotypic_abnormality 5 HP:0100658 Cellulitis Phenotypic_abnormality 3 HP:0002059 Cerebral atrophy Phenotypic_abnormality 9 HP:0002060 Abnormality of the cerebrum Phenotypic_abnormality 7 HP:0002120 Cerebral cortical atrophy Phenotypic_abnormality 10 HP:0007367 Atrophy/Degeneration affecting the central nervous system Phenotypic_abnormality 5 HP:0007369 Atrophy/Degeneration affecting the cerebrum Phenotypic_abnormality 6 HP:0012444 Brain atrophy Phenotypic_abnormality 6 HP:0000240 Abnormality of skull size Phenotypic_abnormality 6 HP:0000252 Microcephaly Phenotypic_abnormality 7 HP:0007364 Aplasia/Hypoplasia of the cerebrum Phenotypic_abnormality 6 HP:0000366 Abnormality of the nose Phenotypic_abnormality 5 HP:0000421 Epistaxis Phenotypic_abnormality 4 HP:0001892 Abnormal bleeding Phenotypic_abnormality 3 HP:0001928 Abnormality of coagulation Phenotypic_abnormality 3 HP:0001977 Abnormal thrombosis Phenotypic_abnormality 3 HP:0002625 Deep venous thrombosis Phenotypic_abnormality 5 HP:0003645 Prolonged partial thromboplastin time Phenotypic_abnormality 4 HP:0004936 Venous thrombosis Phenotypic_abnormality 4 HP:0005261 Joint hemorrhage Phenotypic_abnormality 5 HP:0011028 Abnormality of blood circulation Phenotypic_abnormality 4 HP:0011029 Internal hemorrhage Phenotypic_abnormality 4 HP:0000311 Round face Phenotypic_abnormality 6 HP:0001999 Abnormal facial shape Phenotypic_abnormality 5 HP:0003130 Abnormal peripheral myelination Phenotypic_abnormality 5 HP:0003380 Decreased number of peripheral myelinated nerve fibers Phenotypic_abnormality 6 HP:0003383 Onion bulb formation Phenotypic_abnormality 6 HP:0011096 Peripheral demyelination Phenotypic_abnormality 6 HP:0012447 Abnormal myelination Phenotypic_abnormality 4 HP:0100555 Asymmetric growth Phenotypic_abnormality 3 HP:0001376 Limitation of joint mobility Phenotypic_abnormality 6 HP:0002644 Abnormality of pelvic girdle bone morphology Phenotypic_abnormality 5 HP:0002823 Abnormality of the femur Phenotypic_abnormality 7 HP:0003366 Abnormality of the femoral neck and head region Phenotypic_abnormality 8 HP:0003367 Abnormality of the femoral neck Phenotypic_abnormality 9 HP:0000002 Abnormality of body height Phenotypic_abnormality 3 HP:0001510 Growth delay Phenotypic_abnormality 3 HP:0002087 Abnormality of the upper respiratory tract Phenotypic_abnormality 4 HP:0002109 Abnormality of the bronchi Phenotypic_abnormality 6 HP:0002110 Bronchiectasis Phenotypic_abnormality 7 HP:0003498 Disproportionate short stature Phenotypic_abnormality 5 HP:0004322 Short stature Phenotypic_abnormality 4 HP:0005607 Abnormality of the tracheobronchial system Phenotypic_abnormality 5 HP:0008873 Disproportionate short-limb short stature Phenotypic_abnormality 6 HP:0008905 Rhizomelia Phenotypic_abnormality 7 HP:0009826 Limb undergrowth Phenotypic_abnormality 7 HP:0000708 Behavioral abnormality Phenotypic_abnormality 4 HP:0000763 Sensory neuropathy Phenotypic_abnormality 6 HP:0000969 Edema Phenotypic_abnormality 4 HP:0001637 Abnormality of the myocardium Phenotypic_abnormality 5 HP:0001638 Cardiomyopathy Phenotypic_abnormality 6 HP:0002376 Developmental regression Phenotypic_abnormality 5 HP:0009830 Peripheral neuropathy Phenotypic_abnormality 5 HP:0011032 Abnormality of fluid regulation Phenotypic_abnormality 3 HP:0100022 Abnormality of movement Phenotypic_abnormality 4 HP:0004337 Abnormality of amino acid metabolism Phenotypic_abnormality 4 HP:0000238 Hydrocephalus Phenotypic_abnormality 6 HP:0000364 Hearing abnormality Phenotypic_abnormality 3 HP:0000365 Hearing impairment Phenotypic_abnormality 4 HP:0002205 Recurrent respiratory infections Phenotypic_abnormality 5 HP:0002808 Kyphosis Phenotypic_abnormality 7 HP:0002921 Abnormality of the cerebrospinal fluid Phenotypic_abnormality 5 HP:0003468 Abnormality of the vertebrae Phenotypic_abnormality 6 HP:0007759 Opacification of the corneal stroma Phenotypic_abnormality 8 HP:0007957 Corneal opacity Phenotypic_abnormality 7 HP:0011492 Abnormality of corneal stroma Phenotypic_abnormality 7 HP:0011947 Respiratory tract infection Phenotypic_abnormality 5 HP:0000834 Abnormality of the adrenal glands Phenotypic_abnormality 3 HP:0000846 Adrenal insufficiency Phenotypic_abnormality 5 HP:0001266 Choreoathetosis Phenotypic_abnormality 7 HP:0002072 Chorea Phenotypic_abnormality 6 HP:0004305 Involuntary movements Phenotypic_abnormality 4 HP:0008207 Primary adrenal insufficiency Phenotypic_abnormality 6 HP:0011733 Abnormality of adrenal physiology Phenotypic_abnormality 4 HP:0002829 Arthralgia Phenotypic_abnormality 5 HP:0004370 Abnormality of temperature regulation Phenotypic_abnormality 3 HP:0002151 Increased serum lactate Phenotypic_abnormality 5 HP:0001259 Coma Phenotypic_abnormality 6 HP:0001987 Hyperammonemia Phenotypic_abnormality 5 HP:0002013 Vomiting Phenotypic_abnormality 5 HP:0002017 Nausea and vomiting Phenotypic_abnormality 4 HP:0002157 Azotemia Phenotypic_abnormality 4 HP:0004364 Abnormality of nitrogen compound homeostasis Phenotypic_abnormality 3 HP:0011458 Abdominal symptom Phenotypic_abnormality 3 HP:0100659 Abnormality of the cerebral vasculature Phenotypic_abnormality 4 HP:0001273 Abnormality of the corpus callosum Phenotypic_abnormality 10 HP:0001274 Agenesis of corpus callosum Phenotypic_abnormality 12 HP:0002126 Polymicrogyria Phenotypic_abnormality 10 HP:0002269 Abnormality of neuronal migration Phenotypic_abnormality 5 HP:0002363 Abnormality of brainstem morphology Phenotypic_abnormality 6 HP:0002500 Abnormality of the cerebral white matter Phenotypic_abnormality 9 HP:0002536 Abnormal cortical gyration Phenotypic_abnormality 6 HP:0002538 Abnormality of the cerebral cortex Phenotypic_abnormality 8 HP:0007362 Aplasia/Hypoplasia of the brainstem Phenotypic_abnormality 6 HP:0007370 Aplasia/Hypoplasia of the corpus callosum Phenotypic_abnormality 9 HP:0010993 Abnormality of the cerebral subcortex Phenotypic_abnormality 8 HP:0000368 Low-set, posteriorly rotated ears Phenotypic_abnormality 6 HP:0000765 Abnormality of the thorax Phenotypic_abnormality 5 HP:0000953 Hyperpigmentation of the skin Phenotypic_abnormality 7 HP:0001000 Abnormality of skin pigmentation Phenotypic_abnormality 6 HP:0001428 Somatic mutation Mode_of_inheritance 2 HP:0001442 Somatic mosaicism Mode_of_inheritance 3 HP:0001547 Abnormality of the rib cage Phenotypic_abnormality 6 HP:0002212 Curly hair Phenotypic_abnormality 6 HP:0007379 Neoplasm of the genitourinary tract Phenotypic_abnormality 3 HP:0007440 Generalized hyperpigmentation Phenotypic_abnormality 8 HP:0009725 Bladder neoplasm Phenotypic_abnormality 6 HP:0010719 Abnormality of hair texture Phenotypic_abnormality 5 HP:0010786 Urinary tract neoplasm Phenotypic_abnormality 5 HP:0011793 Neoplasm by anatomical site Phenotypic_abnormality 3 HP:0100625 Enlarged thorax Phenotypic_abnormality 7 HP:0000294 Low anterior hairline Phenotypic_abnormality 9 HP:0000599 Abnormality of the frontal hairline Phenotypic_abnormality 6 HP:0001677 Coronary artery disease Phenotypic_abnormality 6 HP:0001965 Abnormality of the scalp Phenotypic_abnormality 4 HP:0002621 Atherosclerosis Phenotypic_abnormality 5 HP:0002634 Arteriosclerosis Phenotypic_abnormality 4 HP:0005114 Abnormalities of the peripheral arteries Phenotypic_abnormality 5 HP:0006704 Abnormality of the coronary arteries Phenotypic_abnormality 5 HP:0009553 Abnormality of the hairline Phenotypic_abnormality 6 HP:0010720 Abnormal hair pattern Phenotypic_abnormality 5 HP:0011361 Congenital abnormal hair pattern Phenotypic_abnormality 6 HP:0100037 Abnormality of the scalp hair Phenotypic_abnormality 5 HP:0100545 Arterial stenosis Phenotypic_abnormality 6 HP:0000525 Abnormality of the iris Phenotypic_abnormality 6 HP:0000553 Abnormality of the uvea Phenotypic_abnormality 5 HP:0009145 Abnormality of cerebral artery Phenotypic_abnormality 5 HP:0011799 Abnormality of facial soft tissue Phenotypic_abnormality 5 HP:0000098 Tall stature Phenotypic_abnormality 4 HP:0000464 Abnormality of the neck Phenotypic_abnormality 3 HP:0000473 Torticollis Phenotypic_abnormality 5 HP:0000971 Abnormality of the sweat gland Phenotypic_abnormality 4 HP:0000975 Hyperhidrosis Phenotypic_abnormality 5 HP:0001197 Abnormality of prenatal development or birth Phenotypic_abnormality 2 HP:0001332 Dystonia Phenotypic_abnormality 5 HP:0001371 Flexion contracture Phenotypic_abnormality 3 HP:0001382 Joint hypermobility Phenotypic_abnormality 6 HP:0001533 Slender build Phenotypic_abnormality 5 HP:0001557 Prenatal movement abnormality Phenotypic_abnormality 3 HP:0001558 Decreased fetal movement Phenotypic_abnormality 4 HP:0001872 Abnormality of thrombocytes Phenotypic_abnormality 3 HP:0001933 Subcutaneous hemorrhage Phenotypic_abnormality 4 HP:0002747 Respiratory insufficiency due to muscle weakness Phenotypic_abnormality 6 HP:0002783 Recurrent lower respiratory tract infections Phenotypic_abnormality 7 HP:0002791 Hypoventilation Phenotypic_abnormality 5 HP:0002793 Abnormal pattern of respiration Phenotypic_abnormality 4 HP:0002877 Nocturnal hypoventilation Phenotypic_abnormality 6 HP:0003010 Prolonged bleeding time Phenotypic_abnormality 4 HP:0003028 Abnormality of the ankles Phenotypic_abnormality 8 HP:0003121 Limb joint contracture Phenotypic_abnormality 7 HP:0003236 Elevated serum creatine phosphokinase Phenotypic_abnormality 5 HP:0003306 Spinal rigidity Phenotypic_abnormality 6 HP:0003325 Limb-girdle muscle weakness Phenotypic_abnormality 5 HP:0003557 Increased variability in muscle fiber diameter Phenotypic_abnormality 6 HP:0003700 Generalized amyotrophy Phenotypic_abnormality 5 HP:0003713 Muscle fiber necrosis Phenotypic_abnormality 5 HP:0003803 Type 1 muscle fiber predominance Phenotypic_abnormality 5 HP:0004303 Abnormality of muscle fibers Phenotypic_abnormality 4 HP:0004325 Decreased body weight Phenotypic_abnormality 4 HP:0004347 Weakness of muscles of respiration Phenotypic_abnormality 4 HP:0004373 Focal dystonia Phenotypic_abnormality 6 HP:0005072 Hyperextensibility at wrists Phenotypic_abnormality 7 HP:0005750 Contractures of the joints of the lower limbs Phenotypic_abnormality 8 HP:0005988 Congenital muscular torticollis Phenotypic_abnormality 5 HP:0006094 Finger joint hypermobility Phenotypic_abnormality 9 HP:0006149 Increased laxity of fingers Phenotypic_abnormality 10 HP:0006256 Abnormality of hand joint mobility Phenotypic_abnormality 8 HP:0006460 Increased laxity of ankles Phenotypic_abnormality 9 HP:0006466 Ankle contracture Phenotypic_abnormality 9 HP:0008180 Mildly elevated creatine phosphokinase Phenotypic_abnormality 6 HP:0011006 Abnormality of the musculature of the neck Phenotypic_abnormality 3 HP:0012084 Abnormality of skeletal muscle fiber size Phenotypic_abnormality 5 HP:0012179 Craniofacial dystonia Phenotypic_abnormality 7 HP:0100491 Abnormality of the joints of the lower limbs Phenotypic_abnormality 5 HP:0000023 Inguinal hernia Phenotypic_abnormality 6 HP:0000159 Abnormality of the lip Phenotypic_abnormality 6 HP:0000178 Abnormality of lower lip Phenotypic_abnormality 7 HP:0000179 Thick lower lip vermilion Phenotypic_abnormality 8 HP:0000280 Coarse facial features Phenotypic_abnormality 6 HP:0000422 Abnormality of the nasal bridge Phenotypic_abnormality 6 HP:0000600 Abnormality of the pharynx Phenotypic_abnormality 4 HP:0000752 Hyperactivity Phenotypic_abnormality 5 HP:0000772 Abnormality of the ribs Phenotypic_abnormality 7 HP:0000943 Dysostosis multiplex Phenotypic_abnormality 4 HP:0001417 X-linked inheritance Mode_of_inheritance 3 HP:0001419 X-linked recessive inheritance Mode_of_inheritance 4 HP:0001739 Abnormality of the nasopharynx Phenotypic_abnormality 5 HP:0002240 Hepatomegaly Phenotypic_abnormality 5 HP:0002788 Recurrent upper respiratory tract infections Phenotypic_abnormality 7 HP:0003300 Ovoid vertebral bodies Phenotypic_abnormality 8 HP:0003312 Abnormal form of the vertebral bodies Phenotypic_abnormality 7 HP:0003541 Urinary glycosaminoglycan excretion Phenotypic_abnormality 6 HP:0004298 Abnormality of the abdominal wall Phenotypic_abnormality 3 HP:0004299 Hernia of the abdominal wall Phenotypic_abnormality 4 HP:0004371 Abnormality of glycosaminoglycan metabolism Phenotypic_abnormality 5 HP:0005280 Depressed nasal bridge Phenotypic_abnormality 7 HP:0010866 Abdominal wall defect Phenotypic_abnormality 4 HP:0010985 Gonosomal inheritance Mode_of_inheritance 2 HP:0011012 Abnormality of polysaccharide metabolism Phenotypic_abnormality 4 HP:0012471 Thick vermilion border Phenotypic_abnormality 7 HP:0100790 Hernia Phenotypic_abnormality 3 HP:0000130 Abnormality of the uterus Phenotypic_abnormality 7 HP:0002242 Abnormality of the intestine Phenotypic_abnormality 6 HP:0002250 Abnormality of the large intestine Phenotypic_abnormality 7 HP:0007378 Neoplasm of the gastrointestinal tract Phenotypic_abnormality 4 HP:0010784 Uterine neoplasm Phenotypic_abnormality 6 HP:0010787 Genital neoplasm Phenotypic_abnormality 4 HP:0100242 Sarcoma Phenotypic_abnormality 4 HP:0100834 Neoplasm of the large intestine Phenotypic_abnormality 6 HP:0003330 Abnormal bone structure Phenotypic_abnormality 4 HP:0004348 Abnormality of bone mineral density Phenotypic_abnormality 5 HP:0004349 Reduced bone mineral density Phenotypic_abnormality 6 HP:0002659 Increased susceptibility to fractures Phenotypic_abnormality 4 HP:0002757 Recurrent fractures Phenotypic_abnormality 5 HP:0003111 Abnormality of ion homeostasis Phenotypic_abnormality 3 HP:0004363 Abnormality of calcium homeostasis Phenotypic_abnormality 6 HP:0010927 Abnormality of divalent inorganic cation homeostasis Phenotypic_abnormality 5 HP:0010929 Abnormality of cation homeostasis Phenotypic_abnormality 4 HP:0000539 Abnormality of refraction Phenotypic_abnormality 4 HP:0000545 Myopia Phenotypic_abnormality 5 HP:0001083 Ectopia lentis Phenotypic_abnormality 7 HP:0001629 Ventricular septal defect Phenotypic_abnormality 7 HP:0001671 Abnormality of the cardiac septa Phenotypic_abnormality 5 HP:0010438 Abnormality of the ventricular septum Phenotypic_abnormality 6 HP:0012373 Abnormal eye physiology Phenotypic_abnormality 3 HP:0000944 Abnormality of the metaphyses Phenotypic_abnormality 5 HP:0005930 Abnormality of the epiphyses Phenotypic_abnormality 5 HP:0011314 Abnormality of long bone morphology Phenotypic_abnormality 4 HP:0001881 Abnormality of leukocytes Phenotypic_abnormality 3 HP:0002846 Abnormality of B cells Phenotypic_abnormality 6 HP:0004332 Abnormality of lymphocytes Phenotypic_abnormality 5 HP:0005368 Abnormality of humoral immunity Phenotypic_abnormality 4 HP:0005372 Abnormality of B cell physiology Phenotypic_abnormality 7 HP:0010701 Abnormal immunoglobulin level Phenotypic_abnormality 5 HP:0010987 Abnormality of cellular immune system Phenotypic_abnormality 3 HP:0002936 Distal sensory impairment Phenotypic_abnormality 7 HP:0003474 Sensory impairment Phenotypic_abnormality 6 HP:0000819 Diabetes mellitus Phenotypic_abnormality 3 HP:0003117 Abnormality of circulating hormone level Phenotypic_abnormality 3 HP:0000315 Abnormality of the orbital region Phenotypic_abnormality 5 HP:0000316 Hypertelorism Phenotypic_abnormality 7 HP:0000593 Abnormality of the anterior chamber Phenotypic_abnormality 6 HP:0001631 Defect in the atrial septum Phenotypic_abnormality 6 HP:0005120 Abnormality of cardiac atrium Phenotypic_abnormality 5 HP:0011994 Abnormality of the atrial septum Phenotypic_abnormality 6 HP:0100886 Abnormality of globe location Phenotypic_abnormality 5 HP:0000014 Abnormality of the bladder Phenotypic_abnormality 5 HP:0000163 Abnormality of the oral cavity Phenotypic_abnormality 6 HP:0000164 Abnormality of the teeth Phenotypic_abnormality 7 HP:0000668 Hypodontia Phenotypic_abnormality 10 HP:0000670 Carious teeth Phenotypic_abnormality 9 HP:0000682 Abnormality of dental enamel Phenotypic_abnormality 9 HP:0001056 Milia Phenotypic_abnormality 5 HP:0001159 Syndactyly Phenotypic_abnormality 7 HP:0001597 Abnormality of the nail Phenotypic_abnormality 4 HP:0001600 Abnormality of the larynx Phenotypic_abnormality 5 HP:0001806 Onycholysis Phenotypic_abnormality 5 HP:0001808 Fragile nails Phenotypic_abnormality 5 HP:0002577 Abnormality of the stomach Phenotypic_abnormality 6 HP:0003341 Junctional split Phenotypic_abnormality 7 HP:0004334 Dermal atrophy Phenotypic_abnormality 6 HP:0004400 Abnormality of the pylorus Phenotypic_abnormality 7 HP:0006089 Palmar hyperhidrosis Phenotypic_abnormality 6 HP:0006101 Finger syndactyly Phenotypic_abnormality 8 HP:0006483 Abnormal number of teeth Phenotypic_abnormality 8 HP:0007383 Congenital localized absence of skin Phenotypic_abnormality 6 HP:0007556 Plantar hyperkeratosis Phenotypic_abnormality 9 HP:0008065 Aplasia/Hypoplasia of the skin Phenotypic_abnormality 5 HP:0008066 Abnormal blistering of the skin Phenotypic_abnormality 6 HP:0008386 Aplasia/Hypoplasia of the nails Phenotypic_abnormality 5 HP:0008388 Abnormality of the toenail Phenotypic_abnormality 5 HP:0008404 Nail dystrophy Phenotypic_abnormality 5 HP:0009804 Reduced number of teeth Phenotypic_abnormality 9 HP:0010624 Aplastic/hypoplastic toenail Phenotypic_abnormality 6 HP:0010936 Abnormality of the lower urinary tract Phenotypic_abnormality 4 HP:0011061 Abnormality of dental structure Phenotypic_abnormality 8 HP:0011355 Localized skin lesion Phenotypic_abnormality 4 HP:0100577 Urinary bladder inflammation Phenotypic_abnormality 6 HP:0100640 Laryngeal cyst Phenotypic_abnormality 6 HP:0008872 Feeding difficulties in infancy Phenotypic_abnormality 5 HP:0011968 Feeding difficulties Phenotypic_abnormality 4 HP:0004431 Complement deficiency Phenotypic_abnormality 6 HP:0005339 Abnormality of complement system Phenotypic_abnormality 5 HP:0005420 Recurrent gram-negative bacterial infections Phenotypic_abnormality 6 HP:0005430 Recurrent Neisserial infections Phenotypic_abnormality 7 HP:0000168 Abnormality of the gingiva Phenotypic_abnormality 7 HP:0000324 Facial asymmetry Phenotypic_abnormality 6 HP:0000568 Microphthalmos Phenotypic_abnormality 6 HP:0009833 Abnormality of the middle phalanges of the hand Phenotypic_abnormality 10 HP:0100887 Abnormality of globe size Phenotypic_abnormality 5 HP:0005381 Recurrent meningococcal disease Phenotypic_abnormality 8 HP:0000277 Abnormality of the mandible Phenotypic_abnormality 7 HP:0001633 Abnormality of the mitral valve Phenotypic_abnormality 6 HP:0002778 Abnormality of the trachea Phenotypic_abnormality 6 HP:0006705 Abnormality of the atrioventricular valves Phenotypic_abnormality 5 HP:0009116 Aplasia/Hypoplasia involving bones of the skull Phenotypic_abnormality 6 HP:0009118 Aplasia/Hypoplasia of the mandible Phenotypic_abnormality 7 HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton Phenotypic_abnormality 5 HP:0011821 Abnormality of facial skeleton Phenotypic_abnormality 6 HP:0002733 Abnormality of the lymph nodes Phenotypic_abnormality 4 HP:0002204 Pulmonary embolism Phenotypic_abnormality 5 HP:0003256 Abnormality of the coagulation cascade Phenotypic_abnormality 4 HP:0003812 Phenotypic variability Onset_and_clinical_course 2 HP:0003828 Variable expressivity Onset_and_clinical_course 3 HP:0002023 Anal atresia Phenotypic_abnormality 8 HP:0002270 Abnormality of the autonomic nervous system Phenotypic_abnormality 4 HP:0004378 Abnormality of the anus Phenotypic_abnormality 7 HP:0012331 Abnormal autonomic nervous system morphology Phenotypic_abnormality 5 HP:0012732 Anorectal anomaly Phenotypic_abnormality 6 HP:0004097 Deviation of finger Phenotypic_abnormality 9 HP:0004209 Clinodactyly of the 5th finger Phenotypic_abnormality 11 HP:0009179 Deviation of the 5th finger Phenotypic_abnormality 10 HP:0009466 Radial deviation of finger Phenotypic_abnormality 10 HP:0009484 Deviation of the hand or of fingers of the hand Phenotypic_abnormality 8 HP:0009485 Radial deviation of the hand or of fingers of the hand Phenotypic_abnormality 9 HP:0000080 Abnormality of genital physiology Phenotypic_abnormality 4 HP:0000144 Decreased fertility Phenotypic_abnormality 5 HP:0000982 Palmoplantar keratoderma Phenotypic_abnormality 9 HP:0001639 Hypertrophic cardiomyopathy Phenotypic_abnormality 7 HP:0001874 Abnormality of neutrophils Phenotypic_abnormality 7 HP:0001911 Abnormality of granulocytes Phenotypic_abnormality 6 HP:0003198 Myopathy Phenotypic_abnormality 4 HP:0009124 Abnormality of adipose tissue Phenotypic_abnormality 3 HP:0009125 Lipodystrophy Phenotypic_abnormality 4 HP:0010974 Abnormality of myeloid leukocytes Phenotypic_abnormality 5 HP:0100578 Lipoatrophy Phenotypic_abnormality 5 HP:0000465 Webbed neck Phenotypic_abnormality 4 HP:0002143 Abnormality of the spinal cord Phenotypic_abnormality 5 HP:0002162 Low posterior hairline Phenotypic_abnormality 4 HP:0002414 Spina bifida Phenotypic_abnormality 7 HP:0003298 Spina bifida occulta Phenotypic_abnormality 8 HP:0007400 Irregular hyperpigmentation Phenotypic_abnormality 8 HP:0010301 Spinal dysraphism Phenotypic_abnormality 6 HP:0000820 Abnormality of the thyroid gland Phenotypic_abnormality 3 HP:0000821 Hypothyroidism Phenotypic_abnormality 5 HP:0001176 Large hands Phenotypic_abnormality 9 HP:0001909 Leukemia Phenotypic_abnormality 5 HP:0002488 Acute leukemia Phenotypic_abnormality 6 HP:0002926 Abnormality of thyroid physiology Phenotypic_abnormality 4 HP:0004377 Hematological neoplasm Phenotypic_abnormality 3 HP:0004808 Acute myeloid leukemia Phenotypic_abnormality 7 HP:0005922 Abnormal hand morphology Phenotypic_abnormality 8 HP:0000211 Trismus Phenotypic_abnormality 8 HP:0000275 Narrow face Phenotypic_abnormality 6 HP:0000303 Mandibular prognathia Phenotypic_abnormality 6 HP:0000306 Abnormality of the chin Phenotypic_abnormality 5 HP:0001373 Joint dislocation Phenotypic_abnormality 5 HP:0001384 Abnormality of the hip joint Phenotypic_abnormality 9 HP:0001644 Dilated cardiomyopathy Phenotypic_abnormality 7 HP:0001832 Abnormality of the metatarsal bones Phenotypic_abnormality 8 HP:0001840 Metatarsus adductus Phenotypic_abnormality 9 HP:0002803 Congenital contracture Phenotypic_abnormality 7 HP:0002827 Hip dislocation Phenotypic_abnormality 6 HP:0003272 Abnormality of the hip bone Phenotypic_abnormality 6 HP:0005684 Distal arthrogryposis Phenotypic_abnormality 8 HP:0100299 Muscle fiber inclusion bodies Phenotypic_abnormality 5 HP:0001608 Abnormality of the voice Phenotypic_abnormality 2 HP:0001612 Weak cry Phenotypic_abnormality 3 HP:0002374 Diminished movement Phenotypic_abnormality 5 HP:0002804 Arthrogryposis multiplex congenita Phenotypic_abnormality 8 HP:0003324 Generalized muscle weakness Phenotypic_abnormality 5 HP:0003388 Easy fatigability Phenotypic_abnormality 4 HP:0003391 Gowers sign Phenotypic_abnormality 6 HP:0003398 Abnormality of the neuromuscular junction Phenotypic_abnormality 5 HP:0003436 Prolonged miniature endplate currents Phenotypic_abnormality 6 HP:0003443 Decreased size of nerve terminals Phenotypic_abnormality 5 HP:0003473 Fatigable weakness Phenotypic_abnormality 5 HP:0004302 Functional motor problems. Phenotypic_abnormality 4 HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness Phenotypic_abnormality 7 HP:0100295 Muscle fiber atrophy Phenotypic_abnormality 5 HP:0000245 Abnormality of the sinuses Phenotypic_abnormality 7 HP:0000246 Sinusitis Phenotypic_abnormality 8 HP:0002716 Lymphadenopathy Phenotypic_abnormality 5 HP:0000695 Natal tooth Phenotypic_abnormality 10 HP:0000972 Palmoplantar hyperkeratosis Phenotypic_abnormality 6 HP:0001131 Corneal dystrophy Phenotypic_abnormality 7 HP:0001425 Heterogeneous Mode_of_inheritance 2 HP:0001596 Alopecia Phenotypic_abnormality 6 HP:0001601 Laryngomalacia Phenotypic_abnormality 6 HP:0002745 Oral leukoplakia Phenotypic_abnormality 8 HP:0006288 Advanced eruption of teeth Phenotypic_abnormality 9 HP:0006292 Abnormality of dental eruption Phenotypic_abnormality 8 HP:0007431 Congenital ichthyosiform erythroderma Phenotypic_abnormality 9 HP:0007475 Congenital bullous ichthyosiform erythroderma Phenotypic_abnormality 10 HP:0008064 Ichthyosis Phenotypic_abnormality 8 HP:0008069 Neoplasm of the skin Phenotypic_abnormality 4 HP:0010765 Palmar hyperkeratosis Phenotypic_abnormality 9 HP:0011356 Regional abnormality of skin Phenotypic_abnormality 4 HP:0011830 Abnormality of oral mucosa Phenotypic_abnormality 7 HP:0100871 Abnormality of the palm Phenotypic_abnormality 8 HP:0100872 Abnormality of the plantar skin of foot Phenotypic_abnormality 5 HP:0000978 Bruising susceptibility Phenotypic_abnormality 7 HP:0000272 Malar flattening Phenotypic_abnormality 6 HP:0000309 Abnormality of the midface Phenotypic_abnormality 5 HP:0005557 Abnormality of the zygomatic arch Phenotypic_abnormality 6 HP:0012369 Malar anomaly Phenotypic_abnormality 6 HP:0012591 Abnormal urinary electrolyte concentration Phenotypic_abnormality 6 HP:0000431 Wide nasal bridge Phenotypic_abnormality 7 HP:0003577 Congenital onset Onset_and_clinical_course 4 HP:0000864 Abnormality of the hypothalamus-pituitary axis Phenotypic_abnormality 3 HP:0010514 Hyperpituitarism Phenotypic_abnormality 6 HP:0011747 Abnormality of the anterior pituitary Phenotypic_abnormality 5 HP:0012503 Abnormality of the pituitary gland Phenotypic_abnormality 4 HP:0000407 Sensorineural hearing impairment Phenotypic_abnormality 5 HP:0000083 Renal insufficiency Phenotypic_abnormality 7 HP:0000790 Hematuria Phenotypic_abnormality 7 HP:0001142 Lenticonus Phenotypic_abnormality 8 HP:0011501 Anterior lenticonus Phenotypic_abnormality 9 HP:0011526 Abnormality of lens shape Phenotypic_abnormality 7 HP:0012211 Abnormal renal physiology Phenotypic_abnormality 5 HP:0012614 Abnormal urine cytology Phenotypic_abnormality 6 HP:0000581 Blepharophimosis Phenotypic_abnormality 9 HP:0000927 Abnormality of skeletal maturation Phenotypic_abnormality 4 HP:0001029 Poikiloderma Phenotypic_abnormality 6 HP:0001511 Intrauterine growth retardation Phenotypic_abnormality 4 HP:0002750 Delayed skeletal maturation Phenotypic_abnormality 5 HP:0200007 Abnormal size of the palpebral fissures Phenotypic_abnormality 8 HP:0000036 Abnormality of the penis Phenotypic_abnormality 7 HP:0000055 Abnormality of female external genitalia Phenotypic_abnormality 6 HP:0000496 Abnormality of eye movement Phenotypic_abnormality 4 HP:0000639 Nystagmus Phenotypic_abnormality 6 HP:0000795 Abnormality of the urethra Phenotypic_abnormality 5 HP:0001276 Hypertonia Phenotypic_abnormality 6 HP:0001291 Abnormality of the cranial nerves Phenotypic_abnormality 5 HP:0001319 Neonatal hypotonia Phenotypic_abnormality 6 HP:0001347 Hyperreflexia Phenotypic_abnormality 6 HP:0003336 Abnormal enchondral ossification Phenotypic_abnormality 6 HP:0010458 Female pseudohermaphroditism Phenotypic_abnormality 7 HP:0010549 Paralysis due to lesions of the principle motor tracts Phenotypic_abnormality 6 HP:0010551 Paraplegia/paraparesis Phenotypic_abnormality 7 HP:0010827 Abnormality of the seventh cranial nerve Phenotypic_abnormality 6 HP:0011849 Abnormal bone ossification Phenotypic_abnormality 5 HP:0012547 Abnormal involuntary eye movements Phenotypic_abnormality 5 HP:0100627 Displacement of the external urethral meatus Phenotypic_abnormality 8 HP:0000782 Abnormality of the scapula Phenotypic_abnormality 6 HP:0002818 Abnormality of the radius Phenotypic_abnormality 8 HP:0002973 Abnormality of the forearm Phenotypic_abnormality 7 HP:0001279 Syncope Phenotypic_abnormality 4 HP:0001649 Tachycardia Phenotypic_abnormality 5 HP:0001692 Primary atrial arrhythmia Phenotypic_abnormality 7 HP:0001962 Palpitations Phenotypic_abnormality 5 HP:0002069 Generalized tonic-clonic seizures Phenotypic_abnormality 6 HP:0002197 Generalized seizures Phenotypic_abnormality 5 HP:0003115 Abnormal EKG Phenotypic_abnormality 4 HP:0004755 Supraventricular tachycardia Phenotypic_abnormality 6 HP:0005110 Atrial fibrillation Phenotypic_abnormality 8 HP:0005115 Supraventricular arrhythmia Phenotypic_abnormality 5 HP:0007359 Focal seizures Phenotypic_abnormality 5 HP:0012232 Shortened QT interval Phenotypic_abnormality 5 HP:0001268 Mental deterioration Phenotypic_abnormality 6 HP:0100543 Cognitive impairment Phenotypic_abnormality 5 HP:0001873 Thrombocytopenia Phenotypic_abnormality 5 HP:0011873 Abnormal platelet count Phenotypic_abnormality 4 HP:0000301 Abnormality of facial musculature Phenotypic_abnormality 3 HP:0001270 Motor delay Phenotypic_abnormality 6 HP:0006824 Cranial nerve paralysis Phenotypic_abnormality 6 HP:0010628 Facial palsy Phenotypic_abnormality 5 HP:0000050 Hypoplastic male external genitalia Phenotypic_abnormality 7 HP:0000069 Abnormality of the ureter Phenotypic_abnormality 5 HP:0000343 Long philtrum Phenotypic_abnormality 7 HP:0000370 Abnormality of the middle ear Phenotypic_abnormality 3 HP:0000388 Otitis media Phenotypic_abnormality 4 HP:0001537 Umbilical hernia Phenotypic_abnormality 5 HP:0001551 Abnormality of the umbilicus Phenotypic_abnormality 4 HP:0003241 External genital hypoplasia Phenotypic_abnormality 6 HP:0007477 Abnormal dermatoglyphics Phenotypic_abnormality 5 HP:0008736 Hypoplasia of penis Phenotypic_abnormality 8 HP:0000766 Abnormality of the sternum Phenotypic_abnormality 6 HP:0000767 Pectus excavatum Phenotypic_abnormality 7 HP:0001844 Abnormality of the hallux Phenotypic_abnormality 9 HP:0100498 Deviation of toes Phenotypic_abnormality 9 HP:0000504 Abnormality of vision Phenotypic_abnormality 4 HP:0000505 Visual impairment Phenotypic_abnormality 5 HP:0001945 Fever Phenotypic_abnormality 4 HP:0001954 Episodic fever Phenotypic_abnormality 5 HP:0003326 Myalgia Phenotypic_abnormality 4 HP:0002650 Scoliosis Phenotypic_abnormality 7 HP:0000015 Bladder diverticulum Phenotypic_abnormality 6 HP:0000541 Retinal detachment Phenotypic_abnormality 8 HP:0000591 Abnormality of the sclera Phenotypic_abnormality 5 HP:0000592 Blue sclerae Phenotypic_abnormality 6 HP:0000963 Thin skin Phenotypic_abnormality 6 HP:0000977 Soft skin Phenotypic_abnormality 7 HP:0000993 Molluscoid pseudotumors Phenotypic_abnormality 5 HP:0001030 Fragile skin Phenotypic_abnormality 5 HP:0001073 Cigarette-paper scars Phenotypic_abnormality 8 HP:0001075 Atrophic scars Phenotypic_abnormality 6 HP:0001369 Arthritis Phenotypic_abnormality 5 HP:0001634 Mitral valve prolapse Phenotypic_abnormality 7 HP:0001679 Abnormality of the aorta Phenotypic_abnormality 5 HP:0001724 Aortic dilatation Phenotypic_abnormality 6 HP:0002624 Venous abnormality Phenotypic_abnormality 4 HP:0002647 Aortic dissection Phenotypic_abnormality 6 HP:0002758 Osteoarthritis Phenotypic_abnormality 6 HP:0005111 Dilatation of the ascending aorta Phenotypic_abnormality 7 HP:0005293 Venous insufficiency Phenotypic_abnormality 5 HP:0010647 Abnormal elasticity of skin Phenotypic_abnormality 6 HP:0000142 Abnormality of the vagina Phenotypic_abnormality 7 HP:0000528 Anophthalmia Phenotypic_abnormality 6 HP:0000589 Coloboma Phenotypic_abnormality 4 HP:0000614 Abnormality of the nasolacrimal system Phenotypic_abnormality 4 HP:0000625 Cleft eyelid Phenotypic_abnormality 5 HP:0001539 Omphalocele Phenotypic_abnormality 6 HP:0004122 Midline defect of the nose Phenotypic_abnormality 7 HP:0004397 Ectopic anus Phenotypic_abnormality 8 HP:0005105 Abnormal nasal morphology Phenotypic_abnormality 6 HP:0011481 Abnormality of the lacrimal duct Phenotypic_abnormality 5 HP:0100589 Urogenital fistula Phenotypic_abnormality 3 HP:0000174 Abnormality of the palate Phenotypic_abnormality 7 HP:0011337 Abnormality of mouth size Phenotypic_abnormality 6