hpo_core

HP:0000001 All | [] | [HP:0000004, HP:0000005, HP:0000118]
HP:0000004 Onset and clinical course | [HP:0000001] | [HP:0003674, HP:0003679, HP:0003812, HP:0011420]
HP:0000005 Mode of inheritance | [HP:0000001] | [HP:0000006, HP:0000007, HP:0001425, HP:0001426, HP:0001428, HP:0003745, HP:0010985]
HP:0000118 Phenotypic abnormality | [HP:0000001] | [HP:0000119, HP:0000152, HP:0000478, HP:0000598, HP:0000707, HP:0000769, HP:0000818, HP:0000924, HP:0001197, HP:0001438, HP:0001507, HP:0001574, HP:0001626, HP:0001871, HP:0001939, HP:0002086, HP:0002664, HP:0002715, HP:0003011, HP:0003549]
HP:0000006 Autosomal dominant inheritance | [HP:0000005] | [HP:0001444]
HP:0000007 Autosomal recessive inheritance | [HP:0000005] | []
HP:0000119 Abnormality of the genitourinary system | [HP:0000118] | [HP:0000078, HP:0000079, HP:0007379, HP:0008713]
HP:0000152 Abnormality of head and neck | [HP:0000118] | [HP:0000234, HP:0000464]
HP:0000478 Abnormality of the eye | [HP:0000118] | [HP:0000486, HP:0000496, HP:0000501, HP:0000502, HP:0000504, HP:0000508, HP:0000521, HP:0000539, HP:0000553, HP:0000589, HP:0000591, HP:0004328, HP:0004329, HP:0008056, HP:0100533, HP:0100886, HP:0100887]
HP:0000598 Abnormality of the ear | [HP:0000118] | [HP:0000356, HP:0000359, HP:0000364, HP:0000370, HP:0008771]
HP:0000707 Abnormality of the nervous system | [HP:0000118] | [HP:0000759, HP:0001311, HP:0002011, HP:0002015, HP:0004375, HP:0100022]
HP:0000769 Abnormality of the breast | [HP:0000118] | [HP:0004404, HP:0010311]
HP:0000818 Abnormality of the endocrine system | [HP:0000118] | [HP:0000819, HP:0000820, HP:0000828, HP:0000834, HP:0000847, HP:0000864, HP:0000873, HP:0003117, HP:0008373, HP:0100568]
HP:0000924 Abnormality of the skeletal system | [HP:0000118] | [HP:0010766, HP:0011842, HP:0011843]
HP:0001197 Abnormality of prenatal development or birth | [HP:0000118] | [HP:0001557, HP:0001560]
HP:0001425 Heterogeneous | [HP:0000005] | []
HP:0001426 Multifactorial inheritance | [HP:0000005] | []
HP:0001428 Somatic mutation | [HP:0000005] | []
HP:0001438 Abnormality of the abdomen | [HP:0000118] | [HP:0000775, HP:0002012, HP:0004298, HP:0011458, HP:0011620, HP:0100656]
HP:0001507 Growth abnormality | [HP:0000118] | [HP:0000002, HP:0001510, HP:0004323]
HP:0001574 Abnormality of the integument | [HP:0000118] | [HP:0000951, HP:0011138]
HP:0001626 Abnormality of the cardiovascular system | [HP:0000118] | [HP:0001279, HP:0001627, HP:0002597, HP:0011025]
HP:0001871 Abnormality of  blood and blood-forming tissues | [HP:0000118] | [HP:0001872, HP:0001877, HP:0001881, HP:0001892, HP:0001928, HP:0001977, HP:0004377, HP:0005561]
HP:0001939 Abnormality of metabolism/homeostasis | [HP:0000118] | [HP:0000816, HP:0001946, HP:0002904, HP:0003110, HP:0003111, HP:0003119, HP:0003533, HP:0004354, HP:0004360, HP:0004364, HP:0004370, HP:0004379, HP:0010876, HP:0011013, HP:0011017, HP:0011032, HP:0100530]
HP:0002086 Abnormality of the respiratory system | [HP:0000118] | [HP:0000775, HP:0002087, HP:0002088, HP:0002205, HP:0002795]
HP:0002664 Neoplasm | [HP:0000118] | [HP:0011792, HP:0011793]
HP:0002715 Abnormality of the immune system | [HP:0000118] | [HP:0010978, HP:0010987, HP:0100763]
HP:0003011 Abnormality of the musculature | [HP:0000118] | [HP:0000301, HP:0003800, HP:0009127, HP:0011006, HP:0011804, HP:0011805]
HP:0003549 Abnormality of connective tissue | [HP:0000118] | [HP:0001371, HP:0009124, HP:0100699, HP:0100790]
HP:0003674 Onset | [HP:0000004] | [HP:0011007]
HP:0003679 Pace of progression | [HP:0000004] | [HP:0003677]
HP:0003745 Sporadic | [HP:0000005] | [HP:0001420]
HP:0003812 Phenotypic variability | [HP:0000004] | [HP:0003828]
HP:0010985 Gonosomal inheritance | [HP:0000005] | [HP:0001417, HP:0001450]
HP:0011420 Death | [HP:0000004] | [HP:0001699]
HP:0000002 Abnormality of body height | [HP:0001507] | [HP:0000098, HP:0004322]
HP:0000078 Abnormality of the genital system | [HP:0000119] | [HP:0000080, HP:0000144, HP:0000811, HP:0000812, HP:0010460, HP:0010461, HP:0010787]
HP:0000079 Abnormality of the urinary system | [HP:0000119] | [HP:0010935, HP:0010936, HP:0011277]
HP:0000234 Abnormality of the head | [HP:0000152] | [HP:0000271, HP:0000600, HP:0000929, HP:0001965]
HP:0000301 Abnormality of facial musculature | [HP:0003011, HP:0011799] | [HP:0010628]
HP:0000356 Abnormality of the outer ear | [HP:0000598] | [HP:0000357, HP:0000377]
HP:0000359 Abnormality of the inner ear | [HP:0000598] | [HP:0011389]
HP:0000364 Hearing abnormality | [HP:0000598] | [HP:0000360, HP:0000365]
HP:0000370 Abnormality of the middle ear | [HP:0000598] | [HP:0008609, HP:0011452]
HP:0000464 Abnormality of the neck | [HP:0000152] | [HP:0011006]
HP:0000486 Strabismus | [HP:0000478] | [HP:0000577]
HP:0000496 Abnormality of eye movement | [HP:0000478] | [HP:0000570, HP:0000597, HP:0000617, HP:0000639]
HP:0000501 Glaucoma | [HP:0000478] | [HP:0001087, HP:0007906]
HP:0000502 Abnormality of the conjunctiva | [HP:0000478] | [HP:0000509]
HP:0000504 Abnormality of vision | [HP:0000478] | [HP:0000505, HP:0000551, HP:0000613, HP:0000662, HP:0001123]
HP:0000508 Ptosis | [HP:0000478] | []
HP:0000521 Abnormality of tear glands or tear production | [HP:0000478] | [HP:0000614]
HP:0000539 Abnormality of refraction | [HP:0000478] | [HP:0000483, HP:0000540]
HP:0000553 Abnormality of the uvea | [HP:0000478] | [HP:0000525, HP:0000610, HP:0008055]
HP:0000589 Coloboma | [HP:0000478] | []
HP:0000591 Abnormality of the sclera | [HP:0000478] | [HP:0000592]
HP:0000759 Abnormality of the peripheral nervous system | [HP:0000707] | [HP:0000764, HP:0001315, HP:0001604, HP:0003130, HP:0003134, HP:0003398, HP:0004408, HP:0006802, HP:0009830, HP:0100007]
HP:0000775 Abnormality of the diaphragm | [HP:0001438, HP:0002086] | [HP:0010315]
HP:0000816 Abnormality of Krebs cycle metabolism | [HP:0001939] | []
HP:0000819 Diabetes mellitus | [HP:0000818, HP:0011014] | [HP:0005978]
HP:0000820 Abnormality of the thyroid gland | [HP:0000818] | [HP:0002926, HP:0011772]
HP:0000828 Abnormality of the parathyroid gland | [HP:0000818] | [HP:0011767]
HP:0000834 Abnormality of the adrenal glands | [HP:0000818] | [HP:0011732, HP:0011733]
HP:0000847 Abnormality of renin-angiotensin system | [HP:0000818] | []
HP:0000864 Abnormality of the hypothalamus-pituitary axis | [HP:0000818] | [HP:0011747]
HP:0000873 Diabetes insipidus | [HP:0000818] | []
HP:0000951 Abnormality of the skin | [HP:0001574] | [HP:0011354, HP:0011355, HP:0011356]
HP:0001279 Syncope | [HP:0001626] | []
HP:0001311 Neurophysiological abnormality | [HP:0000707] | [HP:0002353]
HP:0001371 Flexion contracture | [HP:0003549, HP:0011729, HP:0011805] | [HP:0002803, HP:0003121, HP:0100492]
HP:0001417 X-linked inheritance | [HP:0010985] | []
HP:0001420 Isolated cases | [HP:0003745] | []
HP:0001444 Autosomal dominant somatic cell mutation | [HP:0000006] | []
HP:0001450 Y-linked inheritance | [HP:0010985] | []
HP:0001510 Growth delay | [HP:0001507] | [HP:0001511, HP:0004322]
HP:0001557 Prenatal movement abnormality | [HP:0001197] | [HP:0001558]
HP:0001560 Abnormality of the amniotic fluid | [HP:0001197] | []
HP:0001627 Abnormality of the heart | [HP:0001626] | [HP:0002564, HP:0004306]
HP:0001699 Sudden death | [HP:0011420] | []
HP:0001872 Abnormality of thrombocytes | [HP:0001871] | [HP:0011869, HP:0011873]
HP:0001877 Abnormality of erythrocytes | [HP:0001871] | [HP:0001903, HP:0004312, HP:0004447, HP:0005518]
HP:0001881 Abnormality of leukocytes | [HP:0001871, HP:0010987] | [HP:0001909, HP:0004332, HP:0010974, HP:0011893]
HP:0001892 Abnormal bleeding | [HP:0001871] | [HP:0001933, HP:0001934, HP:0011029]
HP:0001928 Abnormality of coagulation | [HP:0001871] | [HP:0003256]
HP:0001946 Ketosis | [HP:0001939] | []
HP:0001977 Abnormal thrombosis | [HP:0001871] | [HP:0004936, HP:0005521]
HP:0002011 Abnormality of the central nervous system | [HP:0000707] | [HP:0001250, HP:0001291, HP:0001298, HP:0002315, HP:0002360, HP:0002450, HP:0007319, HP:0007367, HP:0011442, HP:0011446, HP:0100006]
HP:0002012 Abnormality of the abdominal organs | [HP:0001438] | [HP:0001392, HP:0001732, HP:0001743, HP:0003271, HP:0011024]
HP:0002015 Dysphagia | [HP:0000707, HP:0002031] | []
HP:0002087 Abnormality of the upper respiratory tract | [HP:0002086] | [HP:0001600]
HP:0002088 Abnormality of the lung | [HP:0002086] | [HP:0002090, HP:0002093, HP:0002097, HP:0002105, HP:0002107, HP:0002783, HP:0006518, HP:0006536, HP:0006703]
HP:0002205 Recurrent respiratory infections | [HP:0002086, HP:0002719] | [HP:0002783, HP:0002788]
HP:0002597 Abnormality of the vasculature | [HP:0001626] | [HP:0002617, HP:0002624, HP:0002634, HP:0004930, HP:0004934, HP:0004948, HP:0011004, HP:0100026, HP:0100659, HP:0100742]
HP:0002795 Functional respiratory abnormality | [HP:0002086] | [HP:0002093, HP:0002104, HP:0002835, HP:0004347, HP:0010307]
HP:0002904 Hyperbilirubinemia | [HP:0001939] | [HP:0008282]
HP:0003110 Abnormality of urine homeostasis | [HP:0001939, HP:0011277] | [HP:0000093, HP:0000103, HP:0000790, HP:0002913, HP:0003355, HP:0003641, HP:0011865, HP:0011866]
HP:0003111 Abnormality of ion homeostasis | [HP:0001939] | [HP:0010929, HP:0100529]
HP:0003117 Abnormality of circulating hormone level | [HP:0000818] | [HP:0000824, HP:0000842, HP:0003162, HP:0003165, HP:0011043, HP:0011731]
HP:0003119 Abnormality of lipid metabolism | [HP:0001939] | [HP:0003077, HP:0003107, HP:0004359]
HP:0003533 Delayed oxidation of acetaldehyde | [HP:0001939] | []
HP:0003677 Slow progression | [HP:0003679] | []
HP:0003800 Muscle abnormality related to mitochondrial dysfunction | [HP:0003011] | [HP:0003737]
HP:0003828 Variable expressivity | [HP:0003812] | []
HP:0004298 Abnormality of the abdominal wall | [HP:0001438] | [HP:0001551, HP:0010866, HP:0010991]
HP:0004323 Abnormality of body weight | [HP:0001507] | [HP:0004324, HP:0004325]
HP:0004328 Abnormality of the anterior segment of the eye | [HP:0000478] | [HP:0000481, HP:0000517, HP:0000525, HP:0000593, HP:0008062]
HP:0004329 Abnormality of the posterior segment of the eye | [HP:0000478] | [HP:0001098, HP:0004327]
HP:0004354 Abnormality of carboxylic acid metabolism | [HP:0001939] | [HP:0004337, HP:0010996]
HP:0004360 Abnormality of acid-base homeostasis | [HP:0001939] | [HP:0001941, HP:0001948]
HP:0004364 Abnormality of nitrogen compound homeostasis | [HP:0001939] | [HP:0001951, HP:0002157, HP:0011043]
HP:0004370 Abnormality of temperature regulation | [HP:0001939] | [HP:0001945, HP:0002047]
HP:0004375 Neoplasm of the nervous system | [HP:0000707, HP:0011793] | [HP:0100006, HP:0100007]
HP:0004377 Hematological neoplasm | [HP:0001871, HP:0011793] | [HP:0001909, HP:0002665, HP:0002863]
HP:0004379 Abnormality of alkaline phosphatase activity | [HP:0001939] | [HP:0003155]
HP:0004404 Abnormality of the nipple | [HP:0000769] | [HP:0006709]
HP:0005561 Abnormality of bone marrow cell morphology | [HP:0001871] | [HP:0001876]
HP:0007379 Neoplasm of the genitourinary tract | [HP:0000119, HP:0011793] | [HP:0010786, HP:0010787]
HP:0008056 Aplasia/Hypoplasia affecting the eye | [HP:0000478] | [HP:0000528, HP:0000568, HP:0008055, HP:0008062]
HP:0008373 Puberty and gonadal disorders | [HP:0000818] | [HP:0000135, HP:0000140]
HP:0008713 Genitourinary tract malformation | [HP:0000119] | [HP:0100589]
HP:0008771 Aplasia/Hypoplasia of the ear | [HP:0000598] | []
HP:0009124 Abnormality of adipose tissue | [HP:0003549] | [HP:0000291, HP:0001001, HP:0003758]
HP:0009127 Abnormality of the musculature of the limbs | [HP:0002813, HP:0003011] | [HP:0001437, HP:0001446]
HP:0010311 Aplasia/Hypoplasia of the breasts | [HP:0000769] | []
HP:0010766 Ectopic calcification | [HP:0000924] | [HP:0011915]
HP:0010876 Abnormality of circulating protein level | [HP:0001939] | [HP:0011021]
HP:0010978 Abnormality of immune system physiology | [HP:0002715] | [HP:0002719, HP:0002721, HP:0002960, HP:0005368]
HP:0010987 Abnormality of cellular immune system | [HP:0002715] | [HP:0001881]
HP:0011006 Abnormality of the musculature of the neck | [HP:0000464, HP:0003011] | [HP:0000473]
HP:0011007 Age of onset | [HP:0003674] | [HP:0003577, HP:0003581, HP:0003593, HP:0003621]
HP:0011013 Abnormality of carbohydrate metabolism/homeostasis | [HP:0001939] | [HP:0011014]
HP:0011017 Abnormality of cell physiology | [HP:0001939] | [HP:0003254, HP:0003287]
HP:0011025 Abnormality of cardiovascular system physiology | [HP:0001626] | [HP:0000822, HP:0001635, HP:0003115, HP:0011028, HP:0011675]
HP:0011032 Abnormality of fluid regulation | [HP:0001939] | [HP:0000969]
HP:0011138 Abnormality of skin adnexa | [HP:0001574] | [HP:0000971, HP:0001595, HP:0001597]
HP:0011458 Abdominal symptom | [HP:0001438] | [HP:0002014, HP:0002017, HP:0002038, HP:0003270, HP:0008872]
HP:0011620 Abnormality of abdominal situs | [HP:0001438] | [HP:0003363]
HP:0011792 Neoplasm by histology | [HP:0002664] | [HP:0002898, HP:0010566, HP:0010614, HP:0100242]
HP:0011793 Neoplasm by anatomical site | [HP:0002664] | [HP:0004375, HP:0004377, HP:0007378, HP:0007379, HP:0008069, HP:0100001, HP:0100568, HP:0100742]
HP:0011804 Abnormality of muscle physiology | [HP:0003011] | [HP:0001324, HP:0003326, HP:0003394, HP:0003457, HP:0003808, HP:0004302, HP:0004305]
HP:0011805 Abnormality of muscle morphology | [HP:0003011] | [HP:0001371, HP:0001460, HP:0003198, HP:0003202, HP:0003560, HP:0003712, HP:0004303]
HP:0011842 Abnormality of skeletal morphology | [HP:0000924] | [HP:0001367, HP:0002652, HP:0003330, HP:0009115, HP:0009121, HP:0011314, HP:0011844, HP:0100774]
HP:0011843 Abnormality of skeletal physiology | [HP:0000924] | [HP:0000927, HP:0002653, HP:0002659, HP:0002754, HP:0010885]
HP:0100022 Abnormality of movement | [HP:0000707] | [HP:0001288, HP:0001332, HP:0001337, HP:0002169, HP:0004305]
HP:0100530 Abnormality of calcium-phosphate metabolism | [HP:0001939] | [HP:0003165]
HP:0100533 Inflammatory abnormality of the eye | [HP:0000478] | [HP:0000491, HP:0000509]
HP:0100568 Neoplasm of the endocrine system | [HP:0000818, HP:0011793] | [HP:0011750, HP:0100031, HP:0100631, HP:0100634]
HP:0100656 Thoracoabdominal wall defects | [HP:0000765, HP:0001438] | [HP:0010866]
HP:0100699 Scarring | [HP:0003549] | [HP:0000987]
HP:0100763 Abnormality of the lymphatic system | [HP:0002715] | [HP:0001743]
HP:0100790 Hernia | [HP:0003549] | [HP:0004299]
HP:0100886 Abnormality of globe location | [HP:0000284, HP:0000315, HP:0000478] | [HP:0000316, HP:0000520]
HP:0100887 Abnormality of globe size | [HP:0000284, HP:0000315, HP:0000478] | [HP:0000528, HP:0000568]
HP:0000080 Abnormality of genital physiology | [HP:0000078] | [HP:0000025, HP:0000135]
HP:0000093 Proteinuria | [HP:0000091, HP:0003110] | []
HP:0000098 Tall stature | [HP:0000002] | [HP:0001519]
HP:0000103 Polyuria | [HP:0003110, HP:0011036] | []
HP:0000135 Hypogonadism | [HP:0000080, HP:0008373] | []
HP:0000140 Abnormality of the menstrual cycle | [HP:0000008, HP:0008373] | [HP:0000132, HP:0000141, HP:0000876]
HP:0000144 Decreased fertility | [HP:0000078] | [HP:0000789]
HP:0000271 Abnormality of the face | [HP:0000234] | [HP:0000153, HP:0000284, HP:0000290, HP:0000306, HP:0000309, HP:0000315, HP:0000366, HP:0000606, HP:0001999, HP:0005346, HP:0011799]
HP:0000291 Abnormality of facial adipose tissue | [HP:0009124, HP:0011799] | []
HP:0000316 Hypertelorism | [HP:0100886] | []
HP:0000357 Abnormal location of ears | [HP:0000356] | [HP:0000358, HP:0000369]
HP:0000360 Tinnitus | [HP:0000364] | []
HP:0000365 Hearing impairment | [HP:0000364] | [HP:0000405, HP:0000407, HP:0001730, HP:0005101]
HP:0000377 Abnormality of the pinna | [HP:0000356] | [HP:0011039]
HP:0000473 Spasmodic torticollis | [HP:0011006, HP:0011442] | []
HP:0000481 Abnormality of the cornea | [HP:0004328] | [HP:0000491, HP:0001131, HP:0007705, HP:0007957, HP:0011486, HP:0011492, HP:0011495, HP:0100691]
HP:0000483 Astigmatism | [HP:0000539, HP:0100691] | []
HP:0000491 Keratitis | [HP:0000481, HP:0011495, HP:0100533] | []
HP:0000505 Visual impairment | [HP:0000504] | [HP:0000572, HP:0000618, HP:0007663]
HP:0000509 Conjunctivitis | [HP:0000502, HP:0100533] | []
HP:0000517 Abnormality of the lens | [HP:0004328] | [HP:0000518]
HP:0000520 Proptosis | [HP:0100886] | []
HP:0000525 Abnormality of the iris | [HP:0000553, HP:0004328] | [HP:0008034, HP:0008053]
HP:0000528 Anophthalmia | [HP:0008056, HP:0100887] | []
HP:0000540 Hypermetropia | [HP:0000539] | [HP:0008499]
HP:0000551 Abnormality of color vision | [HP:0000504] | [HP:0007641]
HP:0000568 Microphthalmos | [HP:0008056, HP:0100887] | []
HP:0000570 Abnormality of saccadic eye movements | [HP:0000496] | []
HP:0000577 Exotropia | [HP:0000486] | []
HP:0000592 Blue sclerae | [HP:0000591] | []
HP:0000593 Abnormality of the anterior chamber | [HP:0004328] | []
HP:0000597 Ophthalmoparesis | [HP:0000496] | [HP:0000602]
HP:0000600 Abnormality of the pharynx | [HP:0000234] | [HP:0001739]
HP:0000610 Abnormality of the choroid | [HP:0000553, HP:0001098] | [HP:0000532, HP:0001150]
HP:0000613 Photophobia | [HP:0000504, HP:0000708] | []
HP:0000614 Abnormality of the nasolacrimal system | [HP:0000521] | [HP:0011479, HP:0011481, HP:0011482]
HP:0000617 Abnormality of ocular smooth pursuit | [HP:0000496] | []
HP:0000639 Nystagmus | [HP:0000496] | [HP:0000640, HP:0000666]
HP:0000662 Night blindness | [HP:0000504] | [HP:0007642]
HP:0000764 Peripheral axonal degeneration | [HP:0000759] | [HP:0003477]
HP:0000790 Hematuria | [HP:0000077, HP:0003110] | []
HP:0000811 Abnormal external genitalia | [HP:0000078] | [HP:0000032, HP:0000055, HP:0000062, HP:0003241]
HP:0000812 Abnormal internal genitalia | [HP:0000078] | [HP:0000008, HP:0000022]
HP:0000822 Hypertension | [HP:0011025] | [HP:0002640, HP:0004421, HP:0004972, HP:0005117]
HP:0000824 Growth hormone deficiency | [HP:0000830, HP:0003117] | [HP:0000839]
HP:0000842 Hyperinsulinemia | [HP:0003117, HP:0011014] | [HP:0000825]
HP:0000927 Abnormality of skeletal maturation | [HP:0011843] | [HP:0002750]
HP:0000929 Abnormality of the skull | [HP:0000234, HP:0009121] | [HP:0000240, HP:0002683, HP:0002693, HP:0002703, HP:0009116, HP:0011815, HP:0011821]
HP:0000969 Edema | [HP:0011032] | [HP:0002181]
HP:0000971 Abnormality of the sweat gland | [HP:0011138] | [HP:0000970]
HP:0000987 Atypical scarring of skin | [HP:0011354, HP:0100699] | []
HP:0001001 Abnormality of subcutaneous fat tissue | [HP:0009124, HP:0011354] | []
HP:0001087 Congenital glaucoma | [HP:0000501] | []
HP:0001098 Abnormality of the fundus | [HP:0004329] | [HP:0000479, HP:0000587, HP:0000610, HP:0001487]
HP:0001123 Visual field defect | [HP:0000504] | [HP:0000575, HP:0001117, HP:0001129]
HP:0001250 Seizures | [HP:0002011] | [HP:0002133, HP:0002197, HP:0002373, HP:0007359, HP:0011145, HP:0011146]
HP:0001288 Gait disturbance | [HP:0100022] | [HP:0002066, HP:0002355, HP:0003376]
HP:0001291 Abnormality of the cranial nerves | [HP:0002011] | [HP:0006824, HP:0010827]
HP:0001298 Encephalopathy | [HP:0002011] | [HP:0002480]
HP:0001315 Reduced tendon reflexes | [HP:0000759] | [HP:0001265, HP:0001284]
HP:0001324 Muscle weakness | [HP:0011804] | [HP:0001283, HP:0002460, HP:0003690, HP:0003701, HP:0004347, HP:0009023, HP:0010628]
HP:0001332 Dystonia | [HP:0100022] | [HP:0001304, HP:0002451, HP:0004373]
HP:0001337 Tremor | [HP:0100022] | [HP:0002174]
HP:0001367 Abnormal joint morphology | [HP:0011842] | [HP:0001369, HP:0001373, HP:0003040, HP:0005262, HP:0009810, HP:0011729, HP:0100491]
HP:0001392 Abnormality of the liver | [HP:0002012] | [HP:0001394, HP:0001410, HP:0002240, HP:0004297]
HP:0001437 Abnormality of the musculature of the lower limbs | [HP:0009127] | [HP:0001436]
HP:0001446 Abnormality of the musculature of the upper limbs | [HP:0009127] | [HP:0001421]
HP:0001460 Aplasia/Hypoplasia involving the musculature | [HP:0011805] | []
HP:0001511 Intrauterine growth retardation | [HP:0001510] | []
HP:0001551 Abnormality of the umbilicus | [HP:0004298] | []
HP:0001558 Decreased fetal movement | [HP:0001557] | []
HP:0001595 Abnormality of the hair | [HP:0011138] | [HP:0000499, HP:0000534, HP:0002115, HP:0003328, HP:0009887, HP:0009888, HP:0010719, HP:0010720, HP:0011357, HP:0011362, HP:0011363, HP:0100037]
HP:0001597 Abnormality of the nail | [HP:0011138] | [HP:0001231, HP:0001806, HP:0002164, HP:0008386]
HP:0001600 Abnormality of the larynx | [HP:0002087] | [HP:0001608, HP:0008777]
HP:0001604 Vocal cord paresis | [HP:0000759, HP:0001609, HP:0008777] | []
HP:0001635 Congestive heart failure | [HP:0011025] | [HP:0006673]
HP:0001732 Abnormality of the pancreas | [HP:0002012] | []
HP:0001743 Abnormality of the spleen | [HP:0002012, HP:0100763] | [HP:0001744, HP:0010451]
HP:0001876 Pancytopenia | [HP:0005561] | [HP:0001915]
HP:0001903 Anemia | [HP:0001877] | [HP:0010972, HP:0011895]
HP:0001909 Leukemia | [HP:0001881, HP:0004377] | [HP:0002488, HP:0005547, HP:0005558]
HP:0001933 Subcutaneous hemorrhage | [HP:0001892, HP:0011276] | [HP:0000978]
HP:0001934 Persistent bleeding after trauma | [HP:0001892] | []
HP:0001941 Acidosis | [HP:0004360] | [HP:0001942, HP:0001947, HP:0003128]
HP:0001945 Fever | [HP:0004370] | [HP:0001954]
HP:0001948 Alkalosis | [HP:0004360] | [HP:0001949, HP:0001950]
HP:0001951 Episodic ammonia intoxication | [HP:0004364] | []
HP:0001965 Abnormality of the scalp | [HP:0000234] | [HP:0100037]
HP:0002014 Diarrhea | [HP:0011458] | [HP:0002254]
HP:0002017 Nausea and vomiting | [HP:0011458] | [HP:0002013, HP:0002018]
HP:0002038 Protein avoidance | [HP:0011458] | []
HP:0002047 Malignant hyperthermia | [HP:0004370] | []
HP:0002090 Pneumonia | [HP:0002088] | []
HP:0002093 Respiratory insufficiency | [HP:0002088, HP:0002795] | [HP:0002094, HP:0005943]
HP:0002097 Emphysema | [HP:0002088] | []
HP:0002104 Apnea | [HP:0002795] | []
HP:0002105 Hemoptysis | [HP:0002088] | []
HP:0002107 Pneumothorax | [HP:0002088] | []
HP:0002157 Azotemia | [HP:0004364] | [HP:0001987]
HP:0002169 Clonus | [HP:0100022] | []
HP:0002315 Headache | [HP:0002011] | [HP:0002076, HP:0002331]
HP:0002353 EEG abnormality | [HP:0001311] | []
HP:0002360 Sleep disturbance | [HP:0000708, HP:0002011] | []
HP:0002450 Abnormality of the motor neurons | [HP:0002011] | [HP:0002460, HP:0003431]
HP:0002564 Malformation of the heart and great vessels | [HP:0001627] | [HP:0001637, HP:0001654, HP:0001671, HP:0001697, HP:0001713, HP:0001961, HP:0004307, HP:0005120, HP:0006705, HP:0011534, HP:0011603]
HP:0002617 Aneurysm | [HP:0002597] | [HP:0004942, HP:0004944]
HP:0002624 Venous abnormalities | [HP:0002597] | [HP:0005293]
HP:0002634 Arteriosclerosis | [HP:0002597] | [HP:0002621]
HP:0002652 Skeletal dysplasia | [HP:0011842] | []
HP:0002653 Bone pain | [HP:0011843] | []
HP:0002659 Increased susceptibility to fractures | [HP:0011843] | [HP:0002757]
HP:0002665 Lymphoma | [HP:0004377] | []
HP:0002719 Recurrent infections | [HP:0010978] | [HP:0002205, HP:0002718, HP:0004429, HP:0004798]
HP:0002721 Immunodeficiency | [HP:0010978] | [HP:0005387]
HP:0002754 Osteomyelitis | [HP:0011843] | [HP:0005901]
HP:0002783 Recurrent lower respiratory tract infections | [HP:0002088, HP:0002205] | []
HP:0002788 Recurrent upper respiratory tract infections | [HP:0001739, HP:0002205] | []
HP:0002803 Congenital contractures | [HP:0001371] | [HP:0002804]
HP:0002835 Aspiration | [HP:0002795] | []
HP:0002863 Myelodysplasia | [HP:0004377] | []
HP:0002898 Embryonal neoplasm | [HP:0011792] | []
HP:0002913 Myoglobinuria | [HP:0003110] | []
HP:0002926 Abnormality of thyroid physiology | [HP:0000820] | [HP:0000821]
HP:0002960 Autoimmunity | [HP:0010978] | []
HP:0003077 Hyperlipidemia | [HP:0003119] | []
HP:0003107 Abnormality of cholesterol metabolism | [HP:0003119] | [HP:0010979]
HP:0003115 Abnormal EKG | [HP:0011025] | [HP:0001657]
HP:0003121 Limb joint contracture | [HP:0001371] | [HP:0100360]
HP:0003130 Abnormal peripheral myelination | [HP:0000759] | [HP:0003380, HP:0003383, HP:0004336, HP:0011096]
HP:0003134 Abnormality of peripheral nerve conduction | [HP:0000759] | [HP:0000762]
HP:0003155 Elevated alkaline phosphatase | [HP:0004379] | []
HP:0003162 Fasting hypoglycemia | [HP:0003117] | []
HP:0003165 Elevated circulating parathyroid hormone (PTH) level | [HP:0003117, HP:0100530] | []
HP:0003198 Myopathy | [HP:0011805] | []
HP:0003202 Amyotrophy | [HP:0011805] | [HP:0003693, HP:0003797, HP:0007269]
HP:0003254 Abnormality of DNA repair | [HP:0011017] | [HP:0003079]
HP:0003256 Abnormality of the coagulation cascade | [HP:0001928] | [HP:0010990]
HP:0003270 Abdominal distention | [HP:0011458] | [HP:0001538]
HP:0003271 Visceromegaly | [HP:0002012] | [HP:0001744, HP:0002240]
HP:0003287 Abnormality of mitochondrial metabolism | [HP:0011017] | []
HP:0003326 Myalgia | [HP:0011804] | []
HP:0003330 Abnormal bone structure | [HP:0011842] | [HP:0002797, HP:0003103, HP:0004348, HP:0011849, HP:0100671]
HP:0003355 Aminoaciduria | [HP:0003110, HP:0004337] | [HP:0002927, HP:0003137, HP:0003153, HP:0003268, HP:0003297]
HP:0003363 Abdominal situs inversus | [HP:0011620] | [HP:0001696]
HP:0003394 Muscle cramps | [HP:0011804] | [HP:0003710]
HP:0003398 Abnormality of the neuromuscular junction | [HP:0000759] | []
HP:0003457 EMG abnormality | [HP:0011804] | []
HP:0003560 Muscular dystrophy | [HP:0011805] | []
HP:0003577 Congenital onset | [HP:0011007] | []
HP:0003581 Adult onset | [HP:0011007] | [HP:0003584]
HP:0003593 Infantile onset | [HP:0011007] | []
HP:0003621 Juvenile onset | [HP:0011007] | [HP:0003586]
HP:0003641 Hemoglobinuria | [HP:0003110] | [HP:0004818]
HP:0003712 Muscle hypertrophy | [HP:0011805] | [HP:0000158]
HP:0003737 Mitochondrial myopathy | [HP:0003800] | []
HP:0003758 Reduced subcutaneous adipose tissue | [HP:0009124] | []
HP:0003808 Abnormal muscle tone | [HP:0011804] | [HP:0001252]
HP:0004299 Hernia of the abdominal wall | [HP:0010866, HP:0100790] | [HP:0000023, HP:0001539]
HP:0004302 Functional motor problems. | [HP:0011804] | [HP:0002355, HP:0003698]
HP:0004303 Abnormality of muscle fibers | [HP:0011805] | [HP:0100295]
HP:0004305 Involuntary movements | [HP:0011804, HP:0100022] | [HP:0002072]
HP:0004306 Abnormality of the endocardium | [HP:0001627] | []
HP:0004312 Abnormality of reticulocytes | [HP:0001877] | []
HP:0004322 Short stature | [HP:0000002, HP:0001510] | [HP:0003508]
HP:0004324 Increased body weight | [HP:0004323] | [HP:0001513]
HP:0004325 Decreased body weight | [HP:0004323] | [HP:0001508]
HP:0004327 Abnormality of the vitreous humor | [HP:0004329] | []
HP:0004332 Abnormality of lymphocytes | [HP:0001881] | [HP:0002843, HP:0002846]
HP:0004337 Abnormality of amino acid metabolism | [HP:0004354] | [HP:0003112, HP:0003355, HP:0004338, HP:0004339, HP:0010894, HP:0010899, HP:0010902, HP:0010904]
HP:0004347 Weakness of muscles of respiration | [HP:0001324, HP:0002795] | [HP:0002747]
HP:0004359 Abnormality of fatty-acid metabolism | [HP:0003119] | [HP:0011022]
HP:0004408 Abnormality of the sense of smell | [HP:0000366, HP:0000759] | [HP:0000458]
HP:0004447 Poikilocytosis | [HP:0001877] | []
HP:0004930 Abnormality of the pulmonary vasculature | [HP:0002597] | [HP:0004414]
HP:0004934 Vascular calcification | [HP:0002597, HP:0011915] | [HP:0003207]
HP:0004936 Venous thrombosis | [HP:0001977] | [HP:0002625]
HP:0004948 Vascular tortuosity | [HP:0002597] | [HP:0005116]
HP:0005368 Abnormality of humoral immunity | [HP:0010978] | [HP:0005339, HP:0010701]
HP:0005518 Erythrocyte macrocytosis | [HP:0001877] | []
HP:0005521 Disseminated intravascular coagulation | [HP:0001977] | []
HP:0005978 Type II diabetes mellitus | [HP:0000819] | []
HP:0006518 Pulmonary venoocclusive disease | [HP:0002088] | []
HP:0006536 Obstructive lung disease | [HP:0002088] | []
HP:0006703 Aplasia/Hypoplasia of the lungs | [HP:0002088] | []
HP:0006709 Aplasia/Hypoplasia of the nipples | [HP:0004404] | []
HP:0006802 Abnormality of the anterior horn cells | [HP:0000759] | []
HP:0007319 Morphological abnormality of the central nervous system | [HP:0002011] | [HP:0002062, HP:0002118, HP:0002143, HP:0002269, HP:0002363, HP:0002977, HP:0010576, HP:0011282, HP:0100547, HP:0100659, HP:0100705]
HP:0007367 Atrophy/Degeneration affecting the central nervous system | [HP:0002011] | []
HP:0007378 Neoplasm of the gastrointestinal tract | [HP:0011024, HP:0011793] | [HP:0006749, HP:0006753, HP:0100834]
HP:0007906 Increased intraocular pressure | [HP:0000501] | []
HP:0008055 Aplasia/Hypoplasia affecting the uvea | [HP:0000553, HP:0008056] | [HP:0008053]
HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye | [HP:0004328, HP:0008056] | [HP:0008053]
HP:0008069 Neoplasm of the skin | [HP:0011355, HP:0011793] | [HP:0001028, HP:0001067, HP:0002860, HP:0002861]
HP:0008282 Unconjugated hyperbilirubinemia | [HP:0002904] | []
HP:0008609 Morphological abnormality of the middle ear | [HP:0000370] | [HP:0004452]
HP:0008872 Feeding difficulties in infancy | [HP:0011458] | []
HP:0009115 Aplasia/Hypoplasia involving the skeleton | [HP:0011842] | [HP:0009122, HP:0009815]
HP:0009121 Abnormal axial skeleton morphology | [HP:0011842] | [HP:0000765, HP:0000925, HP:0000929, HP:0009122]
HP:0009830 Peripheral neuropathy | [HP:0000759] | [HP:0001271, HP:0003474, HP:0003477, HP:0007108, HP:0009831]
HP:0010307 Stridor | [HP:0002795] | []
HP:0010315 Aplasia/Hypoplasia of the diaphragm | [HP:0000775] | []
HP:0010460 Abnormality of the female genitalia | [HP:0000078] | [HP:0000008, HP:0000055]
HP:0010461 Abnormality of the male genitalia | [HP:0000078] | [HP:0000022, HP:0000032]
HP:0010566 Hamartoma | [HP:0011792] | []
HP:0010614 Fibroma | [HP:0011792] | [HP:0001067]
HP:0010628 Facial palsy | [HP:0000301, HP:0001324, HP:0006824, HP:0010827] | []
HP:0010786 Urinary tract neoplasm | [HP:0007379] | [HP:0009725, HP:0009726]
HP:0010787 Genital neoplasm | [HP:0000078, HP:0007379] | []
HP:0010866 Abdominal wall defect | [HP:0004298, HP:0100656] | [HP:0004299]
HP:0010885 Aseptic necrosis | [HP:0011843] | [HP:0100323]
HP:0010929 Abnormality of cation homeostasis | [HP:0003111] | [HP:0010927, HP:0010930]
HP:0010935 Abnormality of the upper urinary tract | [HP:0000079] | [HP:0000077]
HP:0010936 Abnormality of the lower urinary tract | [HP:0000079] | [HP:0000014, HP:0000795]
HP:0010974 Abnormality of myeloid leukocytes | [HP:0001881] | [HP:0001911]
HP:0010991 Abnormality of the abdominal musculature | [HP:0004298] | [HP:0009023]
HP:0010996 Abnormality of monocarboxylic acid metabolism | [HP:0004354] | [HP:0003161, HP:0003607]
HP:0011004 Abnormality of the systemic arterial tree | [HP:0002597] | [HP:0001679, HP:0002620]
HP:0011014 Abnormal glucose homeostasis | [HP:0011013] | [HP:0000819, HP:0000842, HP:0000855, HP:0011015]
HP:0011021 Abnormality of circulating enzyme level | [HP:0010876] | [HP:0003236]
HP:0011024 Abnormality of the gastrointestinal tract | [HP:0002012] | [HP:0002031, HP:0002242, HP:0002577, HP:0002589, HP:0004378, HP:0004386, HP:0004798, HP:0007378]
HP:0011028 Abnormality of blood circulation | [HP:0011025] | [HP:0011029]
HP:0011029 Internal hemorrhage | [HP:0001892, HP:0011028] | [HP:0002170]
HP:0011043 Abnormality of circulating adrenocorticotropin level | [HP:0003117, HP:0004364] | [HP:0002920]
HP:0011277 Abnormality of the urinary system physiology | [HP:0000079] | [HP:0000082, HP:0003110]
HP:0011314 Abnormality of long bone morphology | [HP:0011842] | [HP:0000940, HP:0000944, HP:0003026, HP:0005930, HP:0006487]
HP:0011354 Generalized abnormality of skin | [HP:0000951] | [HP:0000987, HP:0000992, HP:0001001, HP:0001005, HP:0007495, HP:0011121, HP:0011122, HP:0011276]
HP:0011355 Localized skin lesion | [HP:0000951] | [HP:0000991, HP:0003764, HP:0008065, HP:0008069, HP:0200034, HP:0200040, HP:0200042]
HP:0011356 Regional abnormality of skin | [HP:0000951] | [HP:0100872]
HP:0011389 Functional abnormality of the inner ear | [HP:0000359] | [HP:0000407, HP:0001751]
HP:0011442 Abnormality of central motor function | [HP:0002011] | [HP:0000473, HP:0002071, HP:0007256, HP:0011443]
HP:0011446 Abnormality of higher mental function | [HP:0002011] | [HP:0000708, HP:0002167, HP:0002354, HP:0004372, HP:0100543]
HP:0011452 Functional abnormality of the middle ear | [HP:0000370] | [HP:0000405]
HP:0011675 Arrhythmia | [HP:0011025] | [HP:0001649, HP:0001662, HP:0001675, HP:0001695, HP:0001962, HP:0004308, HP:0005115, HP:0005150, HP:0011702]
HP:0011731 Abnormality of circulating cortisol level | [HP:0003117] | [HP:0003118, HP:0003466]
HP:0011732 Abnormality of adrenal morphology | [HP:0000834] | [HP:0000849, HP:0100631]
HP:0011733 Abnormality of adrenal physiology | [HP:0000834] | [HP:0000846, HP:0002717]
HP:0011747 Abnormality of the anterior pituitary | [HP:0000864] | [HP:0000830, HP:0010514, HP:0011750]
HP:0011750 Neoplasm of the anterior pituitary | [HP:0011747, HP:0100568] | [HP:0002893]
HP:0011767 Abnormality of the parathyroid physiology | [HP:0000828] | [HP:0000843]
HP:0011772 Abnormality of thyroid morphology | [HP:0000820] | [HP:0000853, HP:0100031]
HP:0011844 Abnormal appendicular skeleton morphology | [HP:0011842] | [HP:0002644, HP:0002813]
HP:0011865 Abnormal urine cation concentration | [HP:0003110] | [HP:0011280]
HP:0011866 Abnormal urine anion concentration | [HP:0003110] | [HP:0003159]
HP:0011869 Abnormal platelet function | [HP:0001872] | [HP:0003540]
HP:0011873 Abnormal platelet count | [HP:0001872] | [HP:0001873]
HP:0011893 Abnormal leukocyte count | [HP:0001881] | [HP:0001974]
HP:0011915 Cardiovascular calcification | [HP:0010766] | [HP:0004934]
HP:0100001 Malignant mesothelioma | [HP:0011793] | []
HP:0100006 Neoplasm of the central nervous system | [HP:0002011, HP:0004375] | [HP:0100835]
HP:0100007 Neoplasm of the peripheral nervous system | [HP:0000759, HP:0004375] | [HP:0001067, HP:0100634]
HP:0100026 Arteriovenous malformations | [HP:0002597] | []
HP:0100031 Neoplasm of the thyroid gland | [HP:0011772, HP:0100568] | []
HP:0100242 Sarcoma | [HP:0011792] | []
HP:0100492 Joint contractures involving the joints of the feet | [HP:0001371, HP:0100491] | [HP:0001836]
HP:0100529 Abnormality of phosphate homeostasis | [HP:0003111] | [HP:0002148]
HP:0100589 Urogenital fistula | [HP:0008713] | [HP:0004320, HP:0100590]
HP:0100631 Neoplasm of the adrenal gland | [HP:0011732, HP:0100568] | []
HP:0100634 Neuroendocrine neoplasm | [HP:0100007, HP:0100568] | [HP:0002666, HP:0002668]
HP:0100659 Abnormality of the cerebral vasculature | [HP:0002597, HP:0007319] | [HP:0001297, HP:0002170, HP:0009145]
HP:0100742 Vascular neoplasm | [HP:0002597, HP:0011793] | [HP:0001028]
HP:0100774 Hyperostosis | [HP:0011842] | [HP:0004437]
HP:0000008 Abnormality of female internal genitalia | [HP:0000812, HP:0010460] | [HP:0000130, HP:0000137, HP:0000140, HP:0000142]
HP:0000014 Abnormality of the bladder | [HP:0010936] | [HP:0000009]
HP:0000022 Abnormality of male internal genitalia | [HP:0000812, HP:0010461] | [HP:0000035]
HP:0000023 Inguinal hernia | [HP:0004299] | []
HP:0000025 Functional abnormality of male internal genitalia | [HP:0000080] | []
HP:0000032 Abnormality of male external genitalia | [HP:0000811, HP:0010461] | [HP:0000028, HP:0000036, HP:0000050, HP:0000795]
HP:0000055 Abnormality of female external genitalia | [HP:0000811, HP:0010460] | [HP:0000056, HP:0000058]
HP:0000062 Ambiguous genitalia | [HP:0000811] | []
HP:0000077 Abnormality of the kidney | [HP:0010935] | [HP:0000091, HP:0000095, HP:0000107, HP:0000121, HP:0000787, HP:0000790, HP:0008678, HP:0009726, HP:0010944, HP:0011035, HP:0100542, HP:0100820, HP:0100957]
HP:0000082 Abnormality of renal physiology | [HP:0011277] | [HP:0000083, HP:0000124, HP:0011036, HP:0011038]
HP:0000132 Menorrhagia | [HP:0000140] | []
HP:0000141 Amenorrhea | [HP:0000140] | []
HP:0000153 Abnormality of the mouth | [HP:0000271] | [HP:0000159, HP:0000163, HP:0000202, HP:0000288, HP:0011337, HP:0011338]
HP:0000158 Macroglossia | [HP:0000157, HP:0003712] | []
HP:0000240 Abnormality of skull size | [HP:0000929] | [HP:0000256]
HP:0000284 Abnormality of the ocular region | [HP:0000271] | [HP:0000492, HP:0000534, HP:0100886, HP:0100887]
HP:0000290 Abnormality of the forehead | [HP:0000271] | [HP:0002007]
HP:0000306 Abnormality of the chin | [HP:0000271] | []
HP:0000309 Abnormality of the midface | [HP:0000271] | [HP:0000272, HP:0005557]
HP:0000315 Abnormality of the orbital region | [HP:0000271] | [HP:0100886, HP:0100887]
HP:0000358 Posteriorly rotated ears | [HP:0000357] | []
HP:0000366 Abnormality of the nose | [HP:0000271] | [HP:0000421, HP:0000422, HP:0001739, HP:0004408, HP:0005105, HP:0005288, HP:0010938]
HP:0000369 Low-set ears | [HP:0000357] | []
HP:0000405 Conductive hearing impairment | [HP:0000365, HP:0011452] | [HP:0008513]
HP:0000407 Sensorineural hearing impairment | [HP:0000365, HP:0011389] | [HP:0008527, HP:0008619, HP:0011474]
HP:0000458 Anosmia | [HP:0004408] | []
HP:0000479 Abnormality of the retina | [HP:0001098] | [HP:0000488, HP:0000512, HP:0000532, HP:0000541, HP:0000546, HP:0000556, HP:0000580, HP:0001103, HP:0001105, HP:0001112, HP:0001147, HP:0007973, HP:0008051, HP:0008052]
HP:0000499 Abnormality of the eyelashes | [HP:0000492, HP:0001595] | []
HP:0000518 Cataract | [HP:0000517] | [HP:0000519, HP:0001118, HP:0010696, HP:0010920]
HP:0000532 Chorioretinal abnormality | [HP:0000479, HP:0000610] | []
HP:0000534 Abnormality of the eyebrow | [HP:0000284, HP:0000606, HP:0001595] | [HP:0010747]
HP:0000572 Visual loss | [HP:0000505] | [HP:0007663]
HP:0000575 Scotoma | [HP:0001123] | []
HP:0000587 Abnormality of the optic nerve | [HP:0001098] | [HP:0000543, HP:0000648, HP:0001085, HP:0001112]
HP:0000602 Ophthalmoplegia | [HP:0000597] | [HP:0000544]
HP:0000606 Abnormality of the periorbital region | [HP:0000271] | [HP:0000492, HP:0000534]
HP:0000618 Blindness | [HP:0000505] | []
HP:0000640 Gaze-evoked nystagmus | [HP:0000639] | []
HP:0000666 Horizontal nystagmus | [HP:0000639] | []
HP:0000708 Behavioural/Psychiatric Abnormality | [HP:0011446] | [HP:0000613, HP:0000709, HP:0000733, HP:0000735, HP:0000738, HP:0001959, HP:0002360, HP:0100738, HP:0100851]
HP:0000762 Decreased nerve conduction velocity | [HP:0003134] | [HP:0003431]
HP:0000765 Abnormality of the thorax | [HP:0009121] | [HP:0000766, HP:0000772, HP:0000889, HP:0001547, HP:0006711, HP:0100656]
HP:0000789 Infertility | [HP:0000144] | []
HP:0000795 Abnormality of the urethra | [HP:0000032, HP:0010936] | [HP:0100627]
HP:0000821 Hypothyroidism | [HP:0002926] | [HP:0000851]
HP:0000825 Hyperinsulinemic hypoglycemia | [HP:0000842] | []
HP:0000830 Anterior hypopituitarism | [HP:0011747] | [HP:0000824, HP:0000871]
HP:0000839 Pituitary dwarfism | [HP:0000824] | []
HP:0000843 Hyperparathyroidism | [HP:0011767] | []
HP:0000846 Adrenal insufficiency | [HP:0011733] | [HP:0008207]
HP:0000849 Adrenocortical abnormality | [HP:0011732] | []
HP:0000853 Goiter | [HP:0011772] | [HP:0009798]
HP:0000855 Insulin resistance | [HP:0011014] | [HP:0000831]
HP:0000876 Oligomenorrhea | [HP:0000140] | []
HP:0000925 Abnormality of the vertebral column | [HP:0009121] | [HP:0003319, HP:0003413, HP:0003468, HP:0008518, HP:0010301, HP:0010674, HP:0100712]
HP:0000940 Abnormal diaphysis morphology | [HP:0011314] | [HP:0003034, HP:0006504]
HP:0000944 Abnormality of the metaphyses | [HP:0002813, HP:0011314] | [HP:0003025]
HP:0000970 Anhidrosis | [HP:0000971] | []
HP:0000978 Bruising susceptibility | [HP:0001933] | []
HP:0000991 Xanthomatosis | [HP:0011355] | []
HP:0000992 Cutaneous photosensitivity | [HP:0011354] | []
HP:0001005 Dermatological manifestations of systemic disorders | [HP:0011354] | [HP:0000952, HP:0001033]
HP:0001028 Hemangiomas | [HP:0008069, HP:0100742] | [HP:0005306]
HP:0001067 Neurofibromas | [HP:0008069, HP:0010614, HP:0100007] | []
HP:0001117 Sudden central visual loss | [HP:0001123] | []
HP:0001129 Large central visual field defect | [HP:0001123] | []
HP:0001131 Corneal dystrophy | [HP:0000481] | [HP:0008005]
HP:0001150 Choroidal sclerosis | [HP:0000610] | []
HP:0001231 Abnormality of the fingernails | [HP:0001597] | []
HP:0001252 Muscular hypotonia | [HP:0003808] | [HP:0001290, HP:0001319]
HP:0001265 Hyporeflexia | [HP:0001315] | []
HP:0001271 Polyneuropathy | [HP:0009830] | []
HP:0001283 Bulbar palsy | [HP:0001324, HP:0002363] | []
HP:0001284 Areflexia | [HP:0001315] | []
HP:0001297 Stroke | [HP:0100659] | []
HP:0001304 Torsion dystonia | [HP:0001332] | []
HP:0001369 Arthritis | [HP:0001367] | [HP:0002758]
HP:0001373 Joint dislocation | [HP:0001367] | []
HP:0001394 Cirrhosis | [HP:0001392] | []
HP:0001410 Decreased liver function | [HP:0001392] | [HP:0001399]
HP:0001421 Abnormality of the musculature of the hand | [HP:0001155, HP:0001446] | [HP:0009130]
HP:0001436 Abnormality of the foot musculature | [HP:0001437] | [HP:0003377]
HP:0001487 Hypopigmented fundi | [HP:0001098] | []
HP:0001508 Failure to thrive | [HP:0004325] | []
HP:0001513 Obesity | [HP:0004324] | [HP:0001956]
HP:0001519 Disproportionate tall stature | [HP:0000098] | []
HP:0001538 Protuberant abdomen | [HP:0003270] | []
HP:0001539 Omphalocele | [HP:0004299] | []
HP:0001608 Abnormality of the voice | [HP:0001600] | [HP:0001609, HP:0001618]
HP:0001637 Abnormality of the myocardium | [HP:0002564] | [HP:0001638]
HP:0001649 Tachycardia | [HP:0011675] | [HP:0004755]
HP:0001654 Abnormality of the heart valves | [HP:0002564] | [HP:0001641, HP:0001646]
HP:0001657 Prolonged QT interval on EKG | [HP:0003115] | []
HP:0001662 Bradycardia | [HP:0011675] | [HP:0001688]
HP:0001671 Abnormality of the cardiac septa | [HP:0002564] | [HP:0001631]
HP:0001675 Rhythm disturbances associated with pheochromocytoma | [HP:0011675] | []
HP:0001679 Abnormality of the aorta | [HP:0011004] | [HP:0001724, HP:0002647]
HP:0001695 Cardiac arrest | [HP:0011675] | []
HP:0001696 Situs inversus totalis | [HP:0001651, HP:0003363, HP:0011534] | []
HP:0001697 Abnormality of the pericardium | [HP:0002564] | []
HP:0001713 Abnormality of cardiac ventricle | [HP:0002564] | [HP:0001711]
HP:0001730 Progressive hearing impairment | [HP:0000365] | []
HP:0001739 Abnormality of the nasopharynx | [HP:0000366, HP:0000600] | [HP:0002788]
HP:0001744 Splenomegaly | [HP:0001743, HP:0003271] | []
HP:0001751 Vestibular dysfunction | [HP:0011389] | []
HP:0001806 Onycholysis | [HP:0001597] | []
HP:0001836 Camptodactyly (feet) | [HP:0001760, HP:0100492] | [HP:0005651]
HP:0001873 Thrombocytopenia | [HP:0011873] | []
HP:0001911 Abnormality of granulocytes | [HP:0010974] | [HP:0001879]
HP:0001915 Aplastic anemia | [HP:0001876] | []
HP:0001942 Metabolic acidosis | [HP:0001941] | []
HP:0001947 Renal tubular acidosis | [HP:0000124, HP:0001941] | [HP:0002049]
HP:0001949 Hypokalemic alkalosis | [HP:0001948] | [HP:0001960]
HP:0001950 Respiratory alkalosis | [HP:0001948] | []
HP:0001954 Episodic fever | [HP:0001945] | []
HP:0001961 Hypoplastic heart | [HP:0002564] | [HP:0004383]
HP:0001962 Palpitations | [HP:0011675] | []
HP:0001974 Leukocytosis | [HP:0011893] | [HP:0001880]
HP:0001987 Hyperammonemia | [HP:0002157] | []
HP:0001999 Abnormal facial shape | [HP:0000271] | [HP:0000272]
HP:0002013 Vomiting | [HP:0002017] | []
HP:0002018 Nausea | [HP:0002017] | []
HP:0002031 Abnormality of the esophagus | [HP:0011024] | [HP:0002015]
HP:0002062 Abnormality of the pyramidal tracts | [HP:0007319] | []
HP:0002066 Gait ataxia | [HP:0001251, HP:0001288] | []
HP:0002071 Abnormality of extrapyramidal motor function | [HP:0011442] | [HP:0001300]
HP:0002072 Chorea | [HP:0004305] | [HP:0001266]
HP:0002076 Migraine | [HP:0002315] | []
HP:0002094 Dyspnea | [HP:0002093] | []
HP:0002115 Sparse or absent hair | [HP:0001595] | [HP:0001006, HP:0001596]
HP:0002118 Abnormality of the cerebral ventricles | [HP:0007319] | [HP:0000238, HP:0002119, HP:0010950]
HP:0002133 Status epilepticus | [HP:0001250] | []
HP:0002143 Abnormality of the spinal cord | [HP:0007319] | [HP:0003133, HP:0010301]
HP:0002148 Hypophosphatemia | [HP:0100529] | []
HP:0002164 Nail dysplasia | [HP:0001597] | [HP:0001795]
HP:0002167 Neurological speech impairment | [HP:0011446] | [HP:0001260, HP:0001618]
HP:0002170 Intracranial hemorrhage | [HP:0011029, HP:0100659] | []
HP:0002174 Postural tremor | [HP:0001337] | []
HP:0002181 Cerebral edema | [HP:0000969, HP:0002060] | []
HP:0002197 Generalized seizures | [HP:0001250] | [HP:0002069, HP:0002123]
HP:0002240 Hepatomegaly | [HP:0001392, HP:0003271] | []
HP:0002242 Abnormality of the intestine | [HP:0011024] | [HP:0002037, HP:0002244, HP:0002250, HP:0002576, HP:0004362, HP:0005222, HP:0011100, HP:0100819]
HP:0002254 Intermittent diarrhea | [HP:0002014] | []
HP:0002269 Abnormality of neuronal migration | [HP:0007319] | [HP:0002282]
HP:0002331 Headache (with pheochromocytoma) | [HP:0002315] | []
HP:0002354 Memory impairment | [HP:0011446] | []
HP:0002355 Difficulty walking | [HP:0001288, HP:0004302] | []
HP:0002363 Abnormality of the brainstem | [HP:0007319] | [HP:0001283]
HP:0002373 Febrile seizures | [HP:0001250] | []
HP:0002451 Limb dystonia | [HP:0001332] | []
HP:0002460 Distal muscle weakness | [HP:0001324, HP:0002450] | []
HP:0002480 Hepatic encephalopathy | [HP:0001298] | []
HP:0002488 Acute leukemia | [HP:0001909] | [HP:0004808, HP:0004845, HP:0006721]
HP:0002577 Abnormality of the stomach | [HP:0011024] | [HP:0002036, HP:0004295, HP:0006753]
HP:0002589 Gastrointestinal atresia | [HP:0011024] | [HP:0011100]
HP:0002620 Systemic artery abnormality | [HP:0011004] | [HP:0003207, HP:0005114, HP:0005116, HP:0005294, HP:0005344, HP:0006704, HP:0009145]
HP:0002621 Atherosclerosis | [HP:0002634] | [HP:0001677]
HP:0002625 Deep venous thrombosis | [HP:0004936] | []
HP:0002640 Hypertension associated with pheochromocytoma | [HP:0000822] | []
HP:0002644 Abnormality of pelvic girdle bone morphology | [HP:0011844] | [HP:0003272]
HP:0002666 Pheochromocytoma | [HP:0100634] | []
HP:0002668 Paraganglioma | [HP:0100634] | []
HP:0002683 Abnormality of the calvaria | [HP:0000929] | [HP:0000235, HP:0002648, HP:0004437]
HP:0002693 Abnormality of the skull base | [HP:0000929] | [HP:0000932]
HP:0002703 Abnormality of skull ossification | [HP:0000929] | [HP:0004330]
HP:0002717 Adrenal overactivity | [HP:0011733] | [HP:0001578]
HP:0002718 Recurrent bacterial infections | [HP:0002719] | [HP:0005420]
HP:0002747 Respiratory insufficiency due to muscle weakness | [HP:0004347] | []
HP:0002750 Delayed skeletal maturation | [HP:0000927] | []
HP:0002757 Recurrent fractures | [HP:0002659] | []
HP:0002797 Osteolysis | [HP:0003330] | [HP:0009139, HP:0009699]
HP:0002804 Arthrogryposis multiplex congenita | [HP:0002803] | []
HP:0002813 Abnormality of limb bone morphology | [HP:0011844] | [HP:0000944, HP:0001218, HP:0002814, HP:0002817, HP:0006504, HP:0006505, HP:0009127, HP:0009815, HP:0011297, HP:0100257]
HP:0002843 Abnormality of T cells | [HP:0004332] | [HP:0011839, HP:0011840]
HP:0002846 Abnormality of B cells | [HP:0004332] | [HP:0005372]
HP:0002860 Squamous cell carcinoma | [HP:0008069] | [HP:0006739]
HP:0002861 Malignant melanoma | [HP:0008069] | []
HP:0002893 Pituitary adenoma | [HP:0011750] | [HP:0006767]
HP:0002920 Decreased circulating ACTH level | [HP:0011043] | []
HP:0002927 Histidinuria | [HP:0003355, HP:0010905] | []
HP:0002977 Aplasia/Hypoplasia involving the central nervous system | [HP:0007319] | [HP:0007364]
HP:0003026 Short long bones | [HP:0011314] | [HP:0009821, HP:0010743]
HP:0003040 Arthropathy | [HP:0001367] | []
HP:0003079 Defective DNA repair after ultraviolet radiation damage | [HP:0003254] | []
HP:0003103 Abnormal cortical bone morphology | [HP:0003330] | [HP:0002753]
HP:0003112 Abnormality of serum amino acid levels | [HP:0004337] | [HP:0003354]
HP:0003118 Increased circulating cortisol level | [HP:0011731] | []
HP:0003128 Lactic acidosis | [HP:0001941] | []
HP:0003137 Prolinuria | [HP:0003355, HP:0010907] | []
HP:0003153 Cystathioninuria | [HP:0003355, HP:0004339] | []
HP:0003159 Hyperoxaluria | [HP:0011866] | []
HP:0003161 4-Hydroxyphenylpyruvic aciduria | [HP:0010996] | []
HP:0003207 Arterial calcification | [HP:0002620, HP:0004934] | [HP:0001717]
HP:0003236 Elevated serum creatine phosphokinase | [HP:0011021] | []
HP:0003241 Genital hypoplasia | [HP:0000811] | [HP:0000050, HP:0000066]
HP:0003268 Argininuria | [HP:0003355, HP:0010909] | []
HP:0003297 Hyperlysinuria | [HP:0003355, HP:0010908] | []
HP:0003328 Abnormal hair laboratory examination | [HP:0001595] | []
HP:0003376 Steppage gait | [HP:0001288] | []
HP:0003380 Decreased number of peripheral myelinated nerve fibers | [HP:0003130] | []
HP:0003383 Onion bulb formation | [HP:0003130] | []
HP:0003431 Decreased motor nerve conduction velocity | [HP:0000762, HP:0002450] | []
HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test | [HP:0011731] | []
HP:0003474 Sensory impairment | [HP:0009830] | [HP:0002495, HP:0002936, HP:0010832]
HP:0003477 Peripheral axonal neuropathy | [HP:0000764, HP:0009830] | []
HP:0003508 Proportionate short stature | [HP:0004322] | []
HP:0003540 Impaired platelet aggregation | [HP:0011869] | []
HP:0003584 Late onset | [HP:0003581] | []
HP:0003586 Onset by 3 years of age | [HP:0003621] | []
HP:0003607 4-Hydroxyphenylacetic aciduria | [HP:0010996] | []
HP:0003690 Limb muscle weakness | [HP:0001324] | []
HP:0003693 Distal amyotrophy | [HP:0003202] | [HP:0009129]
HP:0003698 Difficulty standing | [HP:0004302] | []
HP:0003701 Proximal muscle weakness | [HP:0001324] | []
HP:0003710 Exercise-induced muscle cramps | [HP:0003394] | []
HP:0003764 Nevus | [HP:0011355] | [HP:0000995]
HP:0003797 Limb-girdle muscle atrophy | [HP:0003202] | []
HP:0004297 Abnormality of the biliary system | [HP:0001392] | [HP:0001080, HP:0001396, HP:0005264]
HP:0004307 Abnormal anatomic location of the heart | [HP:0002564] | [HP:0001651]
HP:0004308 Ventricular arrhythmia | [HP:0011675] | []
HP:0004320 Vaginal fistula | [HP:0000142, HP:0100589] | []
HP:0004336 Myelin outfoldings | [HP:0003130] | []
HP:0004338 Abnormality of aromatic amino acid family metabolism | [HP:0004337] | [HP:0010917]
HP:0004339 Abnormality of sulfur amino acid metabolism | [HP:0004337] | [HP:0003153, HP:0010901]
HP:0004348 Abnormality of bone mineral density | [HP:0003330] | [HP:0004349, HP:0011001]
HP:0004372 Reduced consciousness/confusion | [HP:0011446] | [HP:0001254, HP:0001259]
HP:0004373 Focal dystonia | [HP:0001332] | [HP:0002356]
HP:0004378 Abnormality of the anus | [HP:0011024] | [HP:0002023]
HP:0004386 Gastrointestinal inflammation | [HP:0011024] | [HP:0002037]
HP:0004414 Abnormality of the pulmonary artery | [HP:0004930] | [HP:0004935, HP:0004937]
HP:0004421 Elevated systolic blood pressure | [HP:0000822] | []
HP:0004429 Recurrent viral infections | [HP:0002719] | [HP:0005428]
HP:0004437 Cranial hyperostosis | [HP:0002683, HP:0004330, HP:0100774] | []
HP:0004452 Abnormality of the middle ear ossicles | [HP:0008609] | [HP:0008628]
HP:0004798 Recurrent infection of the gastrointestinal tract | [HP:0002719, HP:0011024] | [HP:0005202]
HP:0004818 Paroxysmal nocturnal hemoglobinuria | [HP:0003641] | []
HP:0004942 Aortic aneurysms | [HP:0001724, HP:0002617] | [HP:0002631, HP:0004954]
HP:0004944 Cerebral aneurysm | [HP:0002617, HP:0009145] | []
HP:0004972 Elevated mean arterial pressure | [HP:0000822] | []
HP:0005101 High-frequency hearing impairment | [HP:0000365] | []
HP:0005115 Supraventricular arrhythmia | [HP:0011675] | [HP:0004755]
HP:0005116 Arterial tortuosity | [HP:0002620, HP:0004948] | [HP:0004955]
HP:0005117 Elevated diastolic blood pressure | [HP:0000822] | []
HP:0005120 Abnormality of cardiac atrium | [HP:0002564] | [HP:0001631]
HP:0005150 Abnormal atrioventricular conduction | [HP:0011675] | [HP:0001678, HP:0011710]
HP:0005262 Abnormality of the synovia | [HP:0001367] | []
HP:0005293 Venous insufficiency | [HP:0002624] | [HP:0002619]
HP:0005339 Abnormality of complement system | [HP:0005368] | [HP:0004431]
HP:0005346 Abnormal facial expression | [HP:0000271] | [HP:0005324]
HP:0005387 Combined immunodeficiency | [HP:0002721] | []
HP:0005547 Myeloproliferative disorder | [HP:0001909] | []
HP:0005558 Chronic leukemia | [HP:0001909] | [HP:0005550]
HP:0005901 Chronic recurrent multifocal osteomyelitis | [HP:0002754] | []
HP:0005930 Abnormality of the epiphyses | [HP:0011314] | [HP:0002663, HP:0006505, HP:0010579, HP:0010580, HP:0010584, HP:0010587]
HP:0005943 Respiratory arrest | [HP:0002093] | []
HP:0006487 Bowing of the long bones | [HP:0006504, HP:0011314] | [HP:0002979, HP:0006488]
HP:0006673 Reduced systolic function | [HP:0001635] | []
HP:0006705 Abnormality of the atrioventricular valves | [HP:0002564] | [HP:0001633]
HP:0006749 Malignant gastrointestinal tract tumors | [HP:0007378] | []
HP:0006753 Neoplasm of the stomach | [HP:0002577, HP:0007378] | []
HP:0006824 Cranial nerve paralysis | [HP:0001291] | [HP:0010628]
HP:0007108 Demyelinating peripheral neuropathy | [HP:0009830] | [HP:0007131]
HP:0007256 Abnormality of pyramidal motor function | [HP:0011442] | [HP:0001276, HP:0001347, HP:0003487, HP:0010549]
HP:0007269 Spinal muscular atrophy | [HP:0003202] | []
HP:0007359 Focal seizures | [HP:0001250] | []
HP:0007495 Prematurely aged appearance | [HP:0011354] | [HP:0002216]
HP:0007641 Dyschromatopsia | [HP:0000551] | []
HP:0007642 Congenital stationary night blindness | [HP:0000662] | []
HP:0007663 Decreased central vision | [HP:0000505, HP:0000572] | []
HP:0007705 Corneal degeneration | [HP:0000481] | []
HP:0007957 Reduction of corneal clarity | [HP:0000481] | [HP:0007759]
HP:0008034 Abnormal iris pigmentation | [HP:0000525] | [HP:0001100]
HP:0008053 Aplasia/Hypoplasia of the iris | [HP:0000525, HP:0008055, HP:0008062] | [HP:0007676]
HP:0008065 Aplasia/Hypoplasia of the skin | [HP:0011355] | [HP:0000963, HP:0001057, HP:0004334]
HP:0008386 Aplasia/Hypoplasia of the nails | [HP:0001597] | []
HP:0008499 High-grade hypermetropia | [HP:0000540] | []
HP:0008777 Abnormality of the vocal cords | [HP:0001600] | [HP:0001604]
HP:0009023 Abdominal wall muscle weakness | [HP:0001324, HP:0010991] | []
HP:0009116 Aplasia/Hypoplasia involving bones of the skull | [HP:0000929, HP:0009122] | [HP:0009118]
HP:0009122 Aplasia/Hypoplasia affecting bones of the axial skeleton | [HP:0009115, HP:0009121] | [HP:0006711, HP:0008518, HP:0009116]
HP:0009145 Abnormalities of the cerebral arteries | [HP:0002620, HP:0100659] | [HP:0004944]
HP:0009725 Bladder neoplasm | [HP:0010786] | []
HP:0009726 Renal neoplasm | [HP:0000077, HP:0010786] | [HP:0005584, HP:0011794]
HP:0009810 Abnormality of the joints of the upper limbs | [HP:0001367, HP:0002817] | [HP:0003019, HP:0009473, HP:0009811, HP:0100238]
HP:0009815 Aplasia/Hypoplasia of the extremities | [HP:0002813, HP:0009115] | [HP:0006493, HP:0006496, HP:0009826]
HP:0009831 Mononeuropathy | [HP:0009830] | []
HP:0009887 Abnormality of hair pigmentation | [HP:0001595] | [HP:0002297, HP:0005599]
HP:0009888 Abnormality of secondary sexual hair | [HP:0001595] | []
HP:0010451 Aplasia/Hypoplasia of the spleen | [HP:0001743] | []
HP:0010514 Hyperpituitarism | [HP:0011747] | []
HP:0010576 Intracranial cystic lesion | [HP:0007319] | [HP:0002350, HP:0007109, HP:0007291]
HP:0010701 Abnormal immunoglobulin level | [HP:0005368, HP:0005372] | [HP:0004313, HP:0010702]
HP:0010719 Abnormality of hair texture | [HP:0001595] | []
HP:0010720 Abnormal hair pattern | [HP:0001595] | [HP:0011360]
HP:0010827 Abnormality of the seventh cranial nerve | [HP:0001291] | [HP:0010628]
HP:0010894 Abnormality of serine family amino acid metabolism | [HP:0004337] | []
HP:0010899 Abnormality of aspartate family amino acid metabolism | [HP:0004337] | [HP:0010900, HP:0010901, HP:0010908]
HP:0010902 Abnormality of glutamine family amino acid metabolism | [HP:0004337] | [HP:0010903, HP:0010907, HP:0010909]
HP:0010904 Abnormality of histidine family amino acid metabolism | [HP:0004337] | [HP:0010905]
HP:0010927 Abnormality of divalent inorganic cation homeostasis | [HP:0010929] | [HP:0004363, HP:0004921]
HP:0010930 Abnormality of monovalent inorganic cation homeostasis | [HP:0010929] | [HP:0011042]
HP:0010972 Anemia of inadequate production | [HP:0001903] | [HP:0001924, HP:0001931, HP:0001935, HP:0001972]
HP:0010979 Abnormality of the level of lipoprotein cholesterol | [HP:0003107] | [HP:0010980]
HP:0010990 Abnormality of the common coagulation pathway | [HP:0003256] | []
HP:0011015 Abnormality of blood glucose concentration | [HP:0011014] | [HP:0001943]
HP:0011022 Abnormality of unsaturated fatty acid metabolism | [HP:0004359] | [HP:0011023]
HP:0011039 Abnormality of the helix | [HP:0000377] | [HP:0008528]
HP:0011096 Peripheral demyelination | [HP:0003130] | []
HP:0011121 Abnormality of skin morphology | [HP:0011354] | [HP:0000958, HP:0000980, HP:0001000, HP:0001029, HP:0001072, HP:0010647]
HP:0011122 Abnormality of skin physiology | [HP:0011354] | [HP:0011123]
HP:0011145 Symptomatic seizures | [HP:0001250] | [HP:0002173]
HP:0011146 Dialeptic seizures | [HP:0001250] | []
HP:0011276 Vascular skin abnormality | [HP:0011354] | [HP:0001933]
HP:0011280 Abnormality of urine calcium concentration | [HP:0011865] | []
HP:0011282 Abnormality of the hindbrain | [HP:0007319] | [HP:0011283]
HP:0011357 Abnormality of hair density | [HP:0001595] | [HP:0008070]
HP:0011362 Abnormal hair quantity | [HP:0001595] | [HP:0000998, HP:0001006, HP:0001007]
HP:0011363 Abnormality of hair growth rate | [HP:0001595] | []
HP:0011443 Abnormality of coordination | [HP:0011442] | [HP:0001251, HP:0002311]
HP:0011479 Abnormality of the lacrimal punctum | [HP:0000614] | []
HP:0011481 Abnormality of the lacrimal duct | [HP:0000614] | []
HP:0011482 Abnormality of the lacrimal gland | [HP:0000614] | [HP:0008038]
HP:0011486 Abnormality of corneal thickness | [HP:0000481] | [HP:0100689]
HP:0011492 Abnormality of corneal stroma | [HP:0000481] | [HP:0007759]
HP:0011495 Abnormality of corneal epithelium | [HP:0000481] | [HP:0000491]
HP:0011534 Abnormal spatial orientation of the cardiac segments | [HP:0002564] | [HP:0001696]
HP:0011603 Congenital malformation of the great arteries | [HP:0002564] | [HP:0001643]
HP:0011702 Abnormal electrophysiology of sinoatrial node origin | [HP:0011675] | [HP:0001688]
HP:0011729 Abnormality of joint mobility | [HP:0001367] | [HP:0001371, HP:0001376, HP:0001382, HP:0100240]
HP:0011799 Abnormality of facial soft tissue | [HP:0000271] | [HP:0000291, HP:0000301]
HP:0011815 Cephalocele | [HP:0000929] | []
HP:0011821 Abnormality of facial skeleton | [HP:0000929] | [HP:0000245, HP:0000277]
HP:0011849 Abnormal bone ossification | [HP:0003330] | [HP:0003953, HP:0010656]
HP:0011895 Anemia due to reduced life span of red cells | [HP:0001903] | [HP:0001878]
HP:0100037 Abnormality of the scalp hair | [HP:0001595, HP:0001965] | []
HP:0100295 Muscle fiber atrophy | [HP:0004303] | []
HP:0100323 Juvenile aseptic necrosis | [HP:0010885] | []
HP:0100360 Contractures of the joints of the upper limbs | [HP:0003121] | [HP:0009473]
HP:0100491 Abnormality of the joints of the lower limbs | [HP:0001367, HP:0002814] | [HP:0002815, HP:0003028, HP:0003272, HP:0009138, HP:0100492]
HP:0100543 Cognitive impairment | [HP:0011446] | [HP:0000750, HP:0001249, HP:0001263, HP:0001268, HP:0001328]
HP:0100547 Abnormality of the forebrain | [HP:0007319] | [HP:0002060]
HP:0100590 Rectal fistula | [HP:0002034, HP:0100589, HP:0100819] | []
HP:0100671 Abnormal trabecular bone morphology | [HP:0003330] | [HP:0002752]
HP:0100691 Abnormality of the curvature of the cornea | [HP:0000481] | [HP:0000483, HP:0007720, HP:0100692]
HP:0100705 Abnormality of the glial cells | [HP:0007319] | [HP:0100707]
HP:0100834 Neoplasm of the large intestine | [HP:0002250, HP:0007378] | []
HP:0100835 Benign neoplasm of the central nervous system | [HP:0100006] | []
HP:0100872 Abnormality of the plantar skin of foot | [HP:0011356] | [HP:0000972]
HP:0200034 Skin papules | [HP:0011355] | [HP:0200036]
HP:0200040 Skin cysts | [HP:0011355] | [HP:0010604]
HP:0200042 skin ulcer | [HP:0011355] | [HP:0001226]
HP:0000009 Functional abnormality of the bladder | [HP:0000014] | [HP:0000012, HP:0000020, HP:0000805]
HP:0000028 Cryptorchidism | [HP:0000032, HP:0000035] | []
HP:0000035 Abnormality of the testis | [HP:0000022] | [HP:0000028]
HP:0000036 Abnormality of the penis | [HP:0000032] | [HP:0008736, HP:0100627, HP:0100639]
HP:0000050 Hypoplastic genitalia | [HP:0000032, HP:0003241] | [HP:0008736]
HP:0000056 Abnormality of the clitoris | [HP:0000055] | [HP:0200023]
HP:0000058 Abnormality of the labia | [HP:0000055] | [HP:0000066]
HP:0000066 Labial hypoplasia | [HP:0000058, HP:0003241] | []
HP:0000083 Renal failure | [HP:0000082] | [HP:0000106, HP:0001919, HP:0003774]
HP:0000091 Abnormality of the renal tubule | [HP:0000077] | [HP:0000092, HP:0000093, HP:0000114, HP:0001969]
HP:0000095 Morphological abnormalities of the glomeruli | [HP:0000077] | [HP:0000096]
HP:0000107 Renal cysts | [HP:0000077] | [HP:0000108, HP:0000113]
HP:0000121 Nephrocalcinosis | [HP:0000077] | []
HP:0000124 Renal tubular dysfunction | [HP:0000082] | [HP:0001947, HP:0002049]
HP:0000130 Abnormality of the uterus | [HP:0000008] | []
HP:0000137 Abnormality of the ovary | [HP:0000008] | []
HP:0000142 Abnormality of the vagina | [HP:0000008] | [HP:0004320]
HP:0000159 Abnormality of the lip | [HP:0000153] | [HP:0000177, HP:0000178]
HP:0000163 Abnormality of the oral cavity | [HP:0000153] | [HP:0000157, HP:0000164, HP:0000168, HP:0000174, HP:0100755]
HP:0000202 Oral cleft | [HP:0000153] | [HP:0000175, HP:0000185, HP:0000204]
HP:0000235 Abnormality of the fontanelles and cranial sutures | [HP:0002683] | [HP:0011328, HP:0011329]
HP:0000238 Hydrocephalus | [HP:0002118] | []
HP:0000245 Abnormality of the sinuses | [HP:0011821] | [HP:0000246]
HP:0000256 Macrocephaly | [HP:0000240] | []
HP:0000272 Malar flattening | [HP:0000309, HP:0001999, HP:0005557] | []
HP:0000277 Abnormality of the mandible | [HP:0011821] | [HP:0000278, HP:0009118]
HP:0000288 Abnormality of the philtrum | [HP:0000153] | []
HP:0000421 Epistaxis | [HP:0000366] | []
HP:0000422 Abnormality of the nasal bridge | [HP:0000366] | []
HP:0000488 Retinopathy | [HP:0000479] | []
HP:0000492 Abnormality of the eyelid | [HP:0000284, HP:0000606] | [HP:0000286, HP:0000499, HP:0000621, HP:0000643, HP:0000656, HP:0008050, HP:0010732]
HP:0000512 Abnormal electroretinogram | [HP:0000479] | [HP:0000654, HP:0007984, HP:0008323]
HP:0000519 Congenital cataract | [HP:0000518] | []
HP:0000541 Retinal detachment | [HP:0000479] | [HP:0007864, HP:0007899]
HP:0000543 Optic disc pallor | [HP:0000587] | []
HP:0000544 External ophthalmoplegia | [HP:0000602] | []
HP:0000546 Retinal degeneration | [HP:0000479] | [HP:0000655, HP:0007769, HP:0008020]
HP:0000556 Retinal dystrophy | [HP:0000479] | []
HP:0000580 Pigmentary retinopathy | [HP:0000479] | []
HP:0000648 Optic atrophy | [HP:0000587] | []
HP:0000709 Psychosis | [HP:0000708] | []
HP:0000733 Stereotypic behavior | [HP:0000708] | []
HP:0000735 Impaired social interactions | [HP:0000708] | [HP:0000728, HP:0000758]
HP:0000738 Hallucinations | [HP:0000708] | []
HP:0000750 Delayed speech and language development | [HP:0100543] | []
HP:0000766 Abnormality of the sternum | [HP:0000765] | [HP:0000767, HP:0000893]
HP:0000772 Abnormality of the ribs | [HP:0000765] | [HP:0000919, HP:0006712]
HP:0000787 Nephrolithiasis | [HP:0000077] | [HP:0008725]
HP:0000831 Insulin-resistant diabetes mellitus | [HP:0000855] | []
HP:0000851 Congenital hypothyroidism | [HP:0000821] | []
HP:0000871 Panhypopituitarism | [HP:0000830] | []
HP:0000889 Abnormality of the clavicles | [HP:0000765] | [HP:0006710]
HP:0000932 Abnormality of the posterior cranial fossa | [HP:0002693] | [HP:0005445, HP:0007291]
HP:0000952 Jaundice | [HP:0001005, HP:0001396] | []
HP:0000958 Dry skin | [HP:0011121] | []
HP:0000963 Thin skin | [HP:0008065] | []
HP:0000972 Palmoplantar hyperkeratosis | [HP:0007556, HP:0010765, HP:0100871, HP:0100872] | []
HP:0000980 Pallor | [HP:0011121] | [HP:0001010]
HP:0000995 Pigmented nevi | [HP:0001000, HP:0003764] | []
HP:0000998 Hypertrichosis | [HP:0011362] | [HP:0002219, HP:0004535, HP:0004540]
HP:0001000 Abnormality of skin pigmentation | [HP:0011121] | [HP:0000953, HP:0000995, HP:0001010, HP:0001045, HP:0001480, HP:0007623, HP:0011125]
HP:0001006 Hypotrichosis | [HP:0002115, HP:0011362] | []
HP:0001007 Hirsutism | [HP:0011362] | []
HP:0001029 Poikiloderma | [HP:0011121] | []
HP:0001033 Facial flushing after alcohol intake | [HP:0001005] | []
HP:0001057 Aplasia cutis congenita | [HP:0008065] | [HP:0007385]
HP:0001072 Thickened skin | [HP:0011121] | [HP:0011368]
HP:0001080 Biliary tract abnormality | [HP:0004297] | []
HP:0001085 Papilledema | [HP:0000587] | []
HP:0001100 Heterochromia iridis | [HP:0008034] | []
HP:0001103 Abnormality of the macula | [HP:0000479] | [HP:0000493, HP:0000608, HP:0008002]
HP:0001105 Retinal atrophy | [HP:0000479] | []
HP:0001112 Leber optic atrophy | [HP:0000479, HP:0000587] | []
HP:0001118 Juvenile cataract | [HP:0000518] | []
HP:0001147 Retinal exudate | [HP:0000479] | []
HP:0001218 Autoamputation | [HP:0002813] | [HP:0001868, HP:0007460]
HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits | [HP:0007460, HP:0200042] | []
HP:0001249 Intellectual disability | [HP:0100543] | [HP:0006887]
HP:0001251 Ataxia | [HP:0001317, HP:0011443] | [HP:0002066, HP:0002078]
HP:0001254 Lethargy | [HP:0004372] | []
HP:0001259 Coma | [HP:0004372] | [HP:0001325]
HP:0001260 Dysarthria | [HP:0002167] | []
HP:0001263 Global developmental delay | [HP:0100543] | [HP:0001270]
HP:0001266 Choreoathetosis | [HP:0002072] | []
HP:0001268 Mental deterioration | [HP:0100543] | [HP:0000726]
HP:0001276 Hypertonia | [HP:0007256] | [HP:0001257]
HP:0001290 Generalized hypotonia | [HP:0001252] | []
HP:0001300 Parkinsonism | [HP:0002071] | []
HP:0001319 Neonatal hypotonia | [HP:0001252] | []
HP:0001328 Specific learning disability | [HP:0100543] | [HP:0010522]
HP:0001347 Hyperreflexia | [HP:0007256] | [HP:0002395]
HP:0001376 Limitation of joint mobility | [HP:0011729] | [HP:0001377, HP:0002996]
HP:0001382 Joint hypermobility | [HP:0011729] | [HP:0001388]
HP:0001396 Cholestasis | [HP:0004297] | [HP:0000952, HP:0001406]
HP:0001399 Hepatic failure | [HP:0001410] | []
HP:0001547 Abnormality of the morphology of the rib cage | [HP:0000765] | [HP:0000886]
HP:0001578 Hypercortisolism | [HP:0002717] | []
HP:0001596 Alopecia | [HP:0002115] | [HP:0002229, HP:0007418]
HP:0001609 Hoarse voice | [HP:0001608] | [HP:0001604]
HP:0001618 Dysphonia | [HP:0001608, HP:0002167] | []
HP:0001631 Defect in the atrial septum | [HP:0001671, HP:0005120] | []
HP:0001633 Abnormality of the mitral valve | [HP:0006705] | [HP:0001634]
HP:0001638 Cardiomyopathy | [HP:0001637] | [HP:0001639, HP:0001644]
HP:0001641 Abnormality of the pulmonary valve | [HP:0001654] | [HP:0001642, HP:0005182]
HP:0001643 Patent ductus arteriosus | [HP:0011603] | []
HP:0001646 Abnormality of the aortic valve | [HP:0001654] | [HP:0001647]
HP:0001651 Dextrocardia | [HP:0004307] | [HP:0001696]
HP:0001677 Coronary artery disease | [HP:0002621, HP:0006704, HP:0100545] | []
HP:0001678 Atrioventricular block | [HP:0005150] | []
HP:0001688 Sinus bradycardia | [HP:0001662, HP:0011702] | []
HP:0001711 Abnormality of the left ventricle | [HP:0001713] | [HP:0011103]
HP:0001717 Coronary artery calcification | [HP:0003207, HP:0006704] | []
HP:0001724 Aortic dilatation | [HP:0001679] | [HP:0004942, HP:0004959, HP:0005111, HP:0005112]
HP:0001795 Hyperconvex nail | [HP:0002164] | []
HP:0001878 Hemolytic anemia | [HP:0011895] | [HP:0001930, HP:0004802, HP:0004804, HP:0004817]
HP:0001879 Abnormality of eosinophils | [HP:0001911] | [HP:0001880]
HP:0001880 Eosinophilia | [HP:0001879, HP:0001974] | []
HP:0001924 Sideroblastic anemia | [HP:0010972] | []
HP:0001931 Hypochromic anemia | [HP:0010972] | []
HP:0001935 Microcytic anemia | [HP:0010972] | []
HP:0001943 Hypoglycemia | [HP:0011015] | [HP:0002173]
HP:0001956 Truncal obesity | [HP:0001513] | []
HP:0001959 Polydipsia | [HP:0000708] | []
HP:0001960 Hypokalemic metabolic alkalosis | [HP:0001949] | [HP:0004909]
HP:0001972 Macrocytic anemia | [HP:0010972] | []
HP:0002007 Frontal bossing | [HP:0000290, HP:0011218] | []
HP:0002023 Anal atresia | [HP:0004378] | []
HP:0002036 Hiatus hernia | [HP:0002577] | []
HP:0002037 Inflammation of the large intestine | [HP:0002242, HP:0004386] | []
HP:0002049 Proximal renal tubular acidosis | [HP:0000124, HP:0001947] | []
HP:0002060 Abnormality of the cerebrum | [HP:0100547] | [HP:0002181, HP:0002352, HP:0007364, HP:0100314]
HP:0002069 Generalized tonic-clonic seizures | [HP:0002197] | []
HP:0002119 Ventriculomegaly | [HP:0002118] | [HP:0002198]
HP:0002123 Generalized myoclonic seizures | [HP:0002197] | []
HP:0002173 Hypoglycemic seizures | [HP:0001943, HP:0011145] | []
HP:0002216 Premature graying of hair | [HP:0007495, HP:0011358] | []
HP:0002244 Abnormality of the small intestine | [HP:0002242] | []
HP:0002250 Abnormality of the large intestine | [HP:0002242] | [HP:0002034, HP:0100834]
HP:0002282 Heterotopia | [HP:0002269] | []
HP:0002297 Red hair | [HP:0009887] | []
HP:0002311 Incoordination | [HP:0011443] | []
HP:0002350 Cerebellar cyst | [HP:0002438, HP:0010576] | [HP:0001305]
HP:0002356 Writer's cramp | [HP:0004373] | []
HP:0002495 Impaired vibratory sensation | [HP:0003474] | [HP:0002166]
HP:0002576 Intussusception | [HP:0002242] | []
HP:0002619 Varicose veins | [HP:0005293] | []
HP:0002631 Ascending aortic aneurysm | [HP:0004942, HP:0005111] | []
HP:0002647 Aortic dissection | [HP:0001679] | [HP:0004933]
HP:0002648 Abnormality of calvarial morphology | [HP:0002683] | [HP:0000268, HP:0001363, HP:0002696, HP:0011217, HP:0011218]
HP:0002663 Delayed epiphyseal ossification | [HP:0005930, HP:0010656] | []
HP:0002752 Sparse bone trabeculae | [HP:0100671] | []
HP:0002753 Thin bony cortex | [HP:0003103] | []
HP:0002758 Osteoarthritis | [HP:0001369] | [HP:0008843]
HP:0002814 Abnormality of the lower limb | [HP:0002813] | [HP:0001760, HP:0002823, HP:0002979, HP:0002981, HP:0006493, HP:0006500, HP:0009139, HP:0100491]
HP:0002815 Abnormality of the knees | [HP:0100491] | [HP:0002857]
HP:0002817 Abnormality of the upper limb | [HP:0002813] | [HP:0001155, HP:0001454, HP:0002973, HP:0003839, HP:0006488, HP:0006496, HP:0009129, HP:0009142, HP:0009810]
HP:0002936 Distal sensory impairment | [HP:0003474] | []
HP:0002979 Bowing of the legs | [HP:0002814, HP:0006487] | [HP:0002857]
HP:0003019 Abnormality of the wrist | [HP:0009810] | [HP:0001191, HP:0003020]
HP:0003025 Irregular metaphyses | [HP:0000944] | [HP:0003017]
HP:0003028 Abnormality of the ankles | [HP:0100491] | [HP:0003029]
HP:0003034 Diaphyseal sclerosis | [HP:0000940, HP:0011001] | [HP:0005611]
HP:0003133 Abnormality of the spinocerebellar tracts | [HP:0002143] | []
HP:0003272 Abnormality of the hip bone | [HP:0002644, HP:0100491] | []
HP:0003319 Abnormality of the cervical spine | [HP:0000925] | []
HP:0003354 Hyperthreoninemia | [HP:0003112, HP:0010900] | []
HP:0003377 Foot drop | [HP:0001436] | []
HP:0003413 Atlantoaxial abnormality | [HP:0000925] | []
HP:0003468 Abnormality of the vertebrae | [HP:0000925] | [HP:0002948, HP:0003312]
HP:0003487 Babinski sign | [HP:0007256] | []
HP:0003953 Absent ossification/absent forearm bones | [HP:0002973, HP:0011849] | [HP:0003974]
HP:0004295 Abnormality of the gastric mucosa | [HP:0002577] | []
HP:0004313 Hypogammaglobulinemia | [HP:0010701] | [HP:0004315]
HP:0004330 Increased skull ossification | [HP:0002703, HP:0011001] | [HP:0004437]
HP:0004334 Dermal atrophy | [HP:0008065] | []
HP:0004349 Reduced bone mineral density | [HP:0004348] | [HP:0000939, HP:0002748]
HP:0004362 Abnormality of the enteric ganglia | [HP:0002242] | [HP:0002251]
HP:0004363 Abnormality of calcium homeostasis | [HP:0010927] | [HP:0002901, HP:0003072]
HP:0004383 Hypoplastic left heart | [HP:0001961] | []
HP:0004431 Complement deficiency | [HP:0005339] | [HP:0008338]
HP:0004755 Supraventricular tachycardia | [HP:0001649, HP:0005115] | []
HP:0004808 Acute myeloid leukemia | [HP:0002488] | []
HP:0004845 Acute monocytic leukemia | [HP:0002488] | []
HP:0004921 Abnormality of magnesium homeostasis | [HP:0010927] | []
HP:0004935 Pulmonary artery atresia | [HP:0004414] | []
HP:0004937 Pulmonary artery aneurysm | [HP:0004414] | []
HP:0004954 Descending aortic aneurysm | [HP:0004942, HP:0004959] | []
HP:0004955 Generalized arterial tortuosity | [HP:0005116] | []
HP:0005105 Abnormal nasal morphology | [HP:0000366] | [HP:0000463, HP:0009924]
HP:0005114 Abnormalities of the peripheral arteries | [HP:0002620] | [HP:0100545]
HP:0005202 Helicobacter pylori infection | [HP:0004798] | []
HP:0005222 Bowel diverticulosis | [HP:0002242] | []
HP:0005264 Abnormality of the gallbladder | [HP:0004297] | [HP:0001081, HP:0001082]
HP:0005288 Abnormality of the nares | [HP:0000366] | [HP:0000463]
HP:0005294 Arterial dissection | [HP:0002620] | []
HP:0005306 Capillary hemangiomas | [HP:0001028] | []
HP:0005324 Disturbance of facial expression | [HP:0005346] | []
HP:0005344 Abnormality of the carotid arteries | [HP:0002620] | []
HP:0005372 Abnormality of B cell physiology | [HP:0002846] | [HP:0010701]
HP:0005420 Recurrent gram-negative bacterial infections | [HP:0002718] | [HP:0005430]
HP:0005428 Severe recurrent varicella | [HP:0004429] | []
HP:0005550 Chronic lymphatic leukemia | [HP:0005558] | []
HP:0005557 Abnormality of the zygomatic arch | [HP:0000309] | [HP:0000272]
HP:0005584 Renal cell carcinoma | [HP:0009726] | []
HP:0005599 Hypopigmentation of hair | [HP:0009887] | [HP:0001022, HP:0011358, HP:0011365]
HP:0005651 Flexion contracture of finger | [HP:0001836, HP:0009473] | [HP:0100490]
HP:0006488 Bowing of the arm | [HP:0002817, HP:0006487] | [HP:0003956]
HP:0006493 Aplasia/Hypoplasia involving bones of the lower limbs | [HP:0002814, HP:0009815] | [HP:0006494]
HP:0006496 Aplasia/Hypoplasia involving bones of the upper limbs | [HP:0002817, HP:0009815] | [HP:0005927, HP:0006503, HP:0006507]
HP:0006504 Abnormality involving the diaphyses of the limbs | [HP:0000940, HP:0002813] | [HP:0006487]
HP:0006505 Abnormality involving the epiphyses of the limbs | [HP:0002813, HP:0005930] | [HP:0003839, HP:0006500]
HP:0006704 Abnormality of the coronary arteries | [HP:0002620] | [HP:0001677, HP:0001717]
HP:0006711 Aplasia/Hypoplasia involving bones of the thorax | [HP:0000765, HP:0009122] | [HP:0006710, HP:0006712]
HP:0006721 Acute lymphatic leukemia | [HP:0002488] | []
HP:0006739 Squamous cell carcinoma of the skin | [HP:0002860] | []
HP:0006767 Pituitary prolactin cell adenoma | [HP:0002893] | []
HP:0007109 Periventricular cysts | [HP:0002518, HP:0010576] | []
HP:0007131 Acute demyelinating polyneuropathy | [HP:0007108] | []
HP:0007291 Posterior fossa cyst | [HP:0000932, HP:0010576] | []
HP:0007364 Aplasia/Hypoplasia of the cerebrum | [HP:0002060, HP:0002977] | []
HP:0007676 Hypoplasia of the iris | [HP:0008053] | []
HP:0007720 Congenital cornea plana | [HP:0100691] | []
HP:0007759 Opacification of the corneal stroma | [HP:0007957, HP:0011492] | [HP:0011493]
HP:0007973 Retinal dysplasia | [HP:0000479] | []
HP:0008005 Congenital corneal dystrophy | [HP:0001131] | []
HP:0008038 Aplastic/hypoplastic lacrimal glands | [HP:0011482] | []
HP:0008051 Abnormality of the retinal pigment epithelium | [HP:0000479] | [HP:0007703, HP:0007894, HP:0011512]
HP:0008052 Abnormal retinal folds | [HP:0000479] | []
HP:0008070 Sparse hair | [HP:0011357] | []
HP:0008207 Primary adrenal insufficiency | [HP:0000846] | []
HP:0008513 Bilateral conductive hearing impairment | [HP:0000405] | []
HP:0008518 Aplasia/Hypoplasia involving the vertebral column | [HP:0000925, HP:0009122] | []
HP:0008527 Congenital sensorineural hearing impairment | [HP:0000407] | []
HP:0008528 Long hairs growing from helix of pinna | [HP:0011039] | []
HP:0008619 Bilateral sensorineural hearing impairment | [HP:0000407] | []
HP:0008628 Abnormality of the stapes | [HP:0004452] | []
HP:0008678 Renal hypoplasia/aplasia | [HP:0000077] | [HP:0000104]
HP:0009118 Aplasia/Hypoplasia of the mandible | [HP:0000277, HP:0009116] | [HP:0000347]
HP:0009129 Amyotrophy involving the upper limbs | [HP:0002817, HP:0003693] | [HP:0009130]
HP:0009130 Hand muscle atrophy | [HP:0001421, HP:0009129] | []
HP:0009138 Synostosis involving bones of the lower limbs | [HP:0100240, HP:0100491] | [HP:0009140]
HP:0009139 Osteolysis involving bones of the lower limbs | [HP:0002797, HP:0002814] | [HP:0009134]
HP:0009473 Joint contracture of the hand | [HP:0001155, HP:0009810, HP:0100360] | [HP:0005651]
HP:0009699 Osteolytic defects of the hand bones | [HP:0001155, HP:0002797] | [HP:0009771]
HP:0009798 Euthyroid goiter | [HP:0000853] | []
HP:0009811 Abnormality of the elbow | [HP:0009810] | [HP:0002996, HP:0003042, HP:0003938, HP:0100744]
HP:0009821 Hypoplasia involving forearm bones | [HP:0003026, HP:0006503, HP:0009826] | [HP:0002984, HP:0003022]
HP:0009826 Hypoplasia involving bones of the extremities | [HP:0009815] | [HP:0002968, HP:0003027, HP:0009821]
HP:0010301 Spinal dysraphism | [HP:0000925, HP:0002143] | [HP:0002414]
HP:0010549 Paralysis due to lesions of the principle motor tracts | [HP:0007256] | [HP:0010551]
HP:0010579 Cone-shaped epiphysis | [HP:0005930] | [HP:0010230]
HP:0010580 Enlarged epiphyses | [HP:0005930] | [HP:0003013, HP:0010231]
HP:0010584 Pseudoepiphyses | [HP:0005930] | [HP:0004288]
HP:0010587 Triangular epiphyses | [HP:0005930] | [HP:0010238]
HP:0010604 Cysts of the eyelid | [HP:0010732, HP:0200040] | []
HP:0010647 Abnormal elasticity of skin | [HP:0011121] | [HP:0000977, HP:0008067, HP:0100679]
HP:0010656 Abnormal epiphyseal ossification | [HP:0011849] | [HP:0002663]
HP:0010674 Abnormality of the curvature of the vertebral column | [HP:0000925] | [HP:0002650, HP:0002808]
HP:0010696 Polar cataract | [HP:0000518] | []
HP:0010702 Hypergammaglobulinemia | [HP:0010701] | []
HP:0010743 Short metatarsal bone | [HP:0001964, HP:0003026] | []
HP:0010747 Medial flaring of the eyebrow | [HP:0000534] | []
HP:0010832 Abnormality of pain sensation | [HP:0003474] | [HP:0007328]
HP:0010900 Abnormality of threonine metabolism | [HP:0010899] | [HP:0003354]
HP:0010901 Abnormality of methionine metabolism | [HP:0004339, HP:0010899] | []
HP:0010903 Abnormality of glutamine metabolism | [HP:0010902] | []
HP:0010905 Abnormality of histidine metabolism | [HP:0010904] | [HP:0002927]
HP:0010907 Abnormality of proline metabolism | [HP:0010902] | [HP:0003137]
HP:0010908 Abnormality of lysine metabolism | [HP:0010899] | [HP:0003297]
HP:0010909 Abnormality of arginine metabolism | [HP:0010902] | [HP:0003268, HP:0005961]
HP:0010917 Abnormality of tyrosine metabolism | [HP:0004338] | [HP:0003231]
HP:0010920 Zonular cataract | [HP:0000518] | []
HP:0010938 Abnormality of the external nose | [HP:0000366] | [HP:0000429]
HP:0010944 Abnormality of the renal pelvis | [HP:0000077] | [HP:0010946]
HP:0010950 Abnormality of the fourth ventricle | [HP:0002118] | [HP:0002198]
HP:0010980 Hyperlipoproteinemia | [HP:0010979] | []
HP:0011001 Increased bone mineral density | [HP:0004348] | [HP:0003034, HP:0004330]
HP:0011023 Abnormality of prostaglandin metabolism | [HP:0011022] | []
HP:0011035 Abnormality of the renal cortex | [HP:0000077] | [HP:0000108]
HP:0011036 Abnormality of renal excretion | [HP:0000082] | [HP:0000103]
HP:0011038 Abnormality of renal resorption | [HP:0000082] | []
HP:0011042 Abnormality of potassium homeostasis | [HP:0010930] | []
HP:0011100 Intestinal atresia | [HP:0002242, HP:0002589] | []
HP:0011123 Inflammatory abnormality of the skin | [HP:0011122] | [HP:0001581]
HP:0011283 Abnormality of the metencephalon | [HP:0011282] | [HP:0001317]
HP:0011297 Abnormality of the digits | [HP:0002813] | [HP:0001159, HP:0001167, HP:0001780, HP:0004099, HP:0006009, HP:0010442, HP:0011927]
HP:0011337 Abnormality of mouth size | [HP:0000153] | []
HP:0011338 Abnormality of mouth shape | [HP:0000153] | []
HP:0011360 Acquired abnormal hair pattern | [HP:0010720] | [HP:0002229]
HP:0011474 Childhood onset sensorineural hearing impairment | [HP:0000407] | []
HP:0011710 Bundle branch block | [HP:0005150] | []
HP:0011794 Embryonal renal neoplasm | [HP:0009726] | []
HP:0011839 Abnormality of T cell number | [HP:0002843] | [HP:0005403]
HP:0011840 Abnormality of T cell physiology | [HP:0002843] | []
HP:0100238 Synostosis involving bones of the upper limbs | [HP:0009810, HP:0100240] | [HP:0002974, HP:0003938, HP:0004278]
HP:0100240 Synostosis of joints | [HP:0011729] | [HP:0002948, HP:0009138, HP:0100238, HP:0100262, HP:0100265, HP:0100266]
HP:0100257 Ectrodactyly | [HP:0002813] | [HP:0001171]
HP:0100542 Abnormal localization of kidneys | [HP:0000077] | []
HP:0100627 Displacement of the external urethral meatus | [HP:0000036, HP:0000795] | [HP:0000047]
HP:0100689 Decreased corneal thickness | [HP:0011486] | [HP:0000563]
HP:0100692 Increased corneal curvature | [HP:0100691] | [HP:0000563]
HP:0100707 Abnormality of the astrocytes | [HP:0100705] | []
HP:0100712 Abnormality of the lumbar spine | [HP:0000925] | []
HP:0100738 Abnormal eating behavior | [HP:0000708] | []
HP:0100819 Intestinal fistula | [HP:0002242] | [HP:0100590]
HP:0100820 Glomerulopathy | [HP:0000077] | []
HP:0100851 Abnormal emotion/affect behavior | [HP:0000708] | [HP:0000711, HP:0000716, HP:0000721, HP:0000729, HP:0000732, HP:0000737, HP:0006919, HP:0100852]
HP:0100957 Abnormality of the renal medulla | [HP:0000077] | [HP:0000090, HP:0000108]
HP:0200036 Skin nodule | [HP:0200034] | [HP:0010732]
HP:0000012 Urinary urgency | [HP:0000009] | []
HP:0000020 Urinary incontinence | [HP:0000009] | []
HP:0000047 Hypospadias | [HP:0100627] | []
HP:0000090 Nephronophthisis | [HP:0100957] | []
HP:0000092 Tubular atrophy | [HP:0000091] | []
HP:0000096 Glomerulosclerosis | [HP:0000095] | []
HP:0000104 Renal agenesis | [HP:0008678] | []
HP:0000106 Progressive renal insufficiency | [HP:0000083] | []
HP:0000108 Renal corticomedullary cysts | [HP:0000107, HP:0011035, HP:0100957] | []
HP:0000113 Polycystic kidney dysplasia | [HP:0000107] | []
HP:0000114 Proximal tubulopathy | [HP:0000091] | []
HP:0000157 Abnormality of the tongue | [HP:0000163] | [HP:0000158]
HP:0000164 Abnormality of the teeth | [HP:0000163] | [HP:0000676, HP:0000692, HP:0006292, HP:0006482, HP:0006483, HP:0011061, HP:0011077]
HP:0000168 Abnormality of the gingiva | [HP:0000163] | []
HP:0000174 Abnormality of the palate | [HP:0000163] | [HP:0100736, HP:0100737]
HP:0000175 Cleft palate | [HP:0000202, HP:0100737] | []
HP:0000177 Abnormality of upper lip | [HP:0000159] | [HP:0000204]
HP:0000178 Abnormality of lower lip | [HP:0000159] | []
HP:0000185 Cleft soft palate | [HP:0000202, HP:0100736] | []
HP:0000204 Cleft upper lip | [HP:0000177, HP:0000202] | []
HP:0000246 Sinusitis | [HP:0000245] | []
HP:0000268 Dolichocephaly | [HP:0002648] | []
HP:0000278 Retrognathia | [HP:0000277] | []
HP:0000286 Epicanthus | [HP:0000492] | []
HP:0000347 Micrognathia | [HP:0009118] | []
HP:0000429 Abnormality of the nasal alae | [HP:0010938] | [HP:0000463]
HP:0000463 Anteverted nares | [HP:0000429, HP:0005105, HP:0005288] | []
HP:0000493 Abnormality of the fovea | [HP:0001103] | []
HP:0000563 Keratoconus | [HP:0100689, HP:0100692] | []
HP:0000608 Macular degeneration | [HP:0001103] | [HP:0007754]
HP:0000621 Entropion | [HP:0000492] | []
HP:0000643 Blepharospasm | [HP:0000492] | []
HP:0000654 Decreased electroretinogram (ERG) amplitude | [HP:0000512] | []
HP:0000655 Vitreoretinal degeneration | [HP:0000546] | []
HP:0000656 Ectropion | [HP:0000492] | []
HP:0000711 Restlessness | [HP:0100851] | []
HP:0000716 Depression | [HP:0100851] | []
HP:0000721 Lack of spontaneous play | [HP:0100851] | []
HP:0000726 Dementia | [HP:0001268] | []
HP:0000728 Impaired ability to form peer relationships | [HP:0000735] | []
HP:0000729 Autism spectrum disorder | [HP:0100851] | [HP:0000717]
HP:0000732 Inflexible adherence to routines or rituals | [HP:0100851] | []
HP:0000737 Irritability | [HP:0100851] | []
HP:0000758 Impaired use of nonverbal behaviors | [HP:0000735] | []
HP:0000767 Pectus excavatum | [HP:0000766] | []
HP:0000805 Enuresis | [HP:0000009] | []
HP:0000886 Deformed rib cage | [HP:0001547] | []
HP:0000893 Bulging of the costochondral junction | [HP:0000766, HP:0000919] | []
HP:0000919 Abnormality of the costochondral junction | [HP:0000772] | [HP:0000893, HP:0000920]
HP:0000939 Osteoporosis | [HP:0004349] | []
HP:0000953 Hyperpigmentation of the skin | [HP:0001000] | [HP:0007400]
HP:0000977 Soft skin | [HP:0010647] | []
HP:0001010 Hypopigmentation of the skin | [HP:0000980, HP:0001000] | [HP:0007443, HP:0007513]
HP:0001022 Albinism | [HP:0005599, HP:0007513] | []
HP:0001045 Vitiligo | [HP:0001000] | []
HP:0001081 Cholelithiasis | [HP:0005264] | []
HP:0001082 Cholecystitis | [HP:0005264] | []
HP:0001155 Abnormality of the hand | [HP:0002817] | [HP:0001163, HP:0001167, HP:0001171, HP:0001191, HP:0001421, HP:0004275, HP:0004278, HP:0005924, HP:0005927, HP:0007460, HP:0009473, HP:0009484, HP:0009699, HP:0100871]
HP:0001159 Syndactyly | [HP:0011297] | [HP:0001770, HP:0006101]
HP:0001167 Abnormality of finger | [HP:0001155, HP:0011297] | [HP:0001172, HP:0001238, HP:0001500, HP:0004097, HP:0004100, HP:0004150, HP:0004188, HP:0004207, HP:0005918, HP:0006265, HP:0009997, HP:0100807]
HP:0001171 Ectrodactyly (hands) | [HP:0001155, HP:0100257] | []
HP:0001191 Abnormality of the carpal bones | [HP:0001155, HP:0003019] | [HP:0006014, HP:0009702]
HP:0001257 Spasticity | [HP:0001276] | [HP:0002061, HP:0002064]
HP:0001270 Motor delay | [HP:0001263] | []
HP:0001305 Dandy-Walker malformation | [HP:0001320, HP:0002198, HP:0002350, HP:0005445] | []
HP:0001317 Abnormality of the cerebellum | [HP:0011283] | [HP:0001251, HP:0001272, HP:0002438]
HP:0001325 Hypoglycemic coma | [HP:0001259] | []
HP:0001363 Craniosynostosis | [HP:0002648, HP:0011329] | [HP:0004443]
HP:0001377 Limited elbow extension | [HP:0001376, HP:0002996] | []
HP:0001388 Joint laxity | [HP:0001382] | []
HP:0001406 Intrahepatic cholestasis | [HP:0001396] | []
HP:0001454 Abnormality of the upper arm | [HP:0002817] | [HP:0003063]
HP:0001480 Freckling | [HP:0001000] | []
HP:0001581 Recurrent skin infections | [HP:0011123] | [HP:0011371]
HP:0001634 Mitral valve prolapse | [HP:0001633] | []
HP:0001639 Hypertrophic cardiomyopathy | [HP:0001638] | []
HP:0001642 Pulmonic stenosis | [HP:0001641] | []
HP:0001644 Dilated cardiomyopathy | [HP:0001638] | []
HP:0001647 Bicuspid aortic valve | [HP:0001646] | []
HP:0001760 Abnormality of the foot | [HP:0002814] | [HP:0001761, HP:0001780, HP:0001832, HP:0001836, HP:0001850, HP:0001868, HP:0005656, HP:0006494, HP:0009134, HP:0009136, HP:0009140]
HP:0001780 Abnormality of toe | [HP:0001760, HP:0011297] | [HP:0001770, HP:0001829, HP:0001837, HP:0001844, HP:0001991, HP:0010161, HP:0010322, HP:0010511, HP:0100498]
HP:0001868 Autoamputation (feet) | [HP:0001218, HP:0001760] | []
HP:0001919 Acute renal failure | [HP:0000083] | []
HP:0001930 Nonspherocytic hemolytic anemia | [HP:0001878] | []
HP:0001969 Tubulointerstitial abnormality | [HP:0000091] | [HP:0005576]
HP:0002034 Abnormality of the rectum | [HP:0002250] | [HP:0100590]
HP:0002078 Truncal ataxia | [HP:0001251] | []
HP:0002166 Impaired vibration sensation in the lower limbs | [HP:0002495] | []
HP:0002198 Dilated fourth ventricle | [HP:0002119, HP:0010950] | [HP:0001305]
HP:0002219 Facial hypertrichosis | [HP:0000998] | []
HP:0002229 Alopecia areata | [HP:0001596, HP:0011360] | []
HP:0002251 Aganglionic megacolon | [HP:0004362] | []
HP:0002352 Leukoencephalopathy | [HP:0002060] | [HP:0002518]
HP:0002395 Lower limb hyperreflexia | [HP:0001347] | []
HP:0002414 Spina bifida | [HP:0010301] | []
HP:0002650 Scoliosis | [HP:0010674] | [HP:0002751]
HP:0002696 Abnormality of the parietal bone | [HP:0002648] | [HP:0000242, HP:0002695]
HP:0002748 Rickets | [HP:0004349] | []
HP:0002808 Kyphosis | [HP:0010674] | [HP:0002751]
HP:0002823 Abnormality of the femur | [HP:0002814] | [HP:0003366, HP:0006499]
HP:0002857 Genu valgum | [HP:0002815, HP:0002979] | []
HP:0002901 Hypocalcemia | [HP:0004363] | []
HP:0002948 Vertebral fusion | [HP:0003468, HP:0100240] | []
HP:0002968 Rhizomelic limb shortening | [HP:0009826] | []
HP:0002973 Abnormality of the forearm | [HP:0002817] | [HP:0002818, HP:0002997, HP:0003953, HP:0003956, HP:0006503]
HP:0002974 Radioulnar synostosis | [HP:0002818, HP:0002997, HP:0100238] | []
HP:0002981 Abnormality of the calf | [HP:0002814] | []
HP:0002984 Hypoplasia of the radius | [HP:0006501, HP:0009821] | []
HP:0002996 Limited elbow movement | [HP:0001376, HP:0009811] | [HP:0001377]
HP:0003013 Bulging epiphyses | [HP:0010580] | []
HP:0003017 Frayed, irregular metaphyses | [HP:0003025] | []
HP:0003020 Enlargement of the wrists | [HP:0003019] | []
HP:0003022 Hypoplasia of the ulna | [HP:0006495, HP:0009821] | []
HP:0003027 Mesomelia | [HP:0009826] | []
HP:0003029 Enlargement of the ankles | [HP:0003028] | []
HP:0003042 Elbow dislocation | [HP:0009811] | [HP:0003083]
HP:0003072 Hypercalcemia | [HP:0004363] | []
HP:0003231 Hypertyrosinemia | [HP:0010917] | []
HP:0003312 Abnormal form of the vertebral bodies | [HP:0003468] | [HP:0000926]
HP:0003774 End stage renal disease | [HP:0000083] | []
HP:0003839 Abnormality involving the epiphyses of the upper limbs | [HP:0002817, HP:0006505] | [HP:0005924]
HP:0003938 Synostosis involving the elbow | [HP:0009811, HP:0100238] | []
HP:0003956 Bowed forearm bones | [HP:0002973, HP:0006488] | []
HP:0003974 Absent radius | [HP:0003953, HP:0006501, HP:0009822] | []
HP:0004099 Macrodactyly | [HP:0011297] | []
HP:0004278 Synostosis involving bones of the hand | [HP:0001155, HP:0100238] | [HP:0009700, HP:0009701, HP:0009702]
HP:0004288 Pseudoepiphyses of hand bones | [HP:0005924, HP:0010584] | [HP:0010235]
HP:0004315 IgG deficiency | [HP:0004313] | []
HP:0004535 Anterior cervical hypertrichosis | [HP:0000998] | []
HP:0004540 Congenital, generalized hypertrichosis | [HP:0000998] | []
HP:0004802 Episodic hemolytic anemia | [HP:0001878] | []
HP:0004804 Congenital hemolytic anemia | [HP:0001878] | []
HP:0004817 Drug-sensitive hemolytic anemia | [HP:0001878] | []
HP:0004909 hypokalemic hypochloremic metabolic alkalosis | [HP:0001960] | []
HP:0004933 Ascending aortic dissection | [HP:0002647] | []
HP:0004959 Dilatation of the descending thoracic aorta | [HP:0001724] | [HP:0004954]
HP:0005111 Dilatation of the ascending aorta | [HP:0001724] | [HP:0002631]
HP:0005112 Dilatation of the abdominal aorta | [HP:0001724] | []
HP:0005182 Bicuspid pulmonary valve | [HP:0001641] | []
HP:0005403 T lymphocytopenia | [HP:0011839] | [HP:0005415]
HP:0005430 Recurrent Neisserial infections | [HP:0005420] | []
HP:0005445 Widened posterior fossa | [HP:0000932] | [HP:0001305]
HP:0005611 Craniodiaphyseal osteosclerosis | [HP:0003034] | []
HP:0005927 Aplasia/Hypoplasia involving bones of the hand | [HP:0001155, HP:0006496] | [HP:0004050, HP:0004279, HP:0005914, HP:0006265]
HP:0005961 Hypoargininemia | [HP:0010909] | []
HP:0006009 Broad phalanx | [HP:0011297] | [HP:0009768]
HP:0006494 Aplasia/Hypoplasia involving bones of the feet | [HP:0001760, HP:0006493] | [HP:0001964, HP:0001991]
HP:0006500 Abnormality involving the epiphyses of the lower limbs | [HP:0002814, HP:0006505] | [HP:0006499]
HP:0006503 Aplasia/Hypoplasia involving forearm bones | [HP:0002973, HP:0006496] | [HP:0006495, HP:0006501, HP:0009821, HP:0009822]
HP:0006507 Aplasia/Hypoplasia of the humerus | [HP:0003063, HP:0006496] | [HP:0005792]
HP:0006710 Aplasia/Hypoplasia of the clavicles | [HP:0000889, HP:0006711] | []
HP:0006712 Aplasia/Hypoplasia of the ribs | [HP:0000772, HP:0006711] | []
HP:0006887 Intellectual disability, progressive | [HP:0001249] | []
HP:0006919 Abnormal aggressive, impulsive or violent behavior | [HP:0100851] | [HP:0000718]
HP:0007328 Impaired pain sensation | [HP:0010832] | []
HP:0007385 Aplasia cutis congenita of scalp | [HP:0001057] | []
HP:0007418 Alopecia totalis | [HP:0001596] | []
HP:0007460 Autoamputation of digits | [HP:0001155, HP:0001218] | [HP:0001226]
HP:0007623 Pigmentation anomalies of sun-exposed skin | [HP:0001000] | []
HP:0007703 Abnormal retinal pigmentation | [HP:0008051] | [HP:0000510]
HP:0007769 Peripheral retinal degeneration | [HP:0000546] | []
HP:0007864 Congenital retinal detachment | [HP:0000541] | []
HP:0007894 Hypopigmentation of the fundus | [HP:0008051] | []
HP:0007899 Retinal nonattachment | [HP:0000541] | []
HP:0007984 Reduced amplitude of b-wave (ERG) | [HP:0000512] | []
HP:0008002 Abnormality of macular pigmentation | [HP:0001103] | []
HP:0008020 Progressive cone degeneration | [HP:0000546] | []
HP:0008050 Abnormality of the palpebral fissures | [HP:0000492] | [HP:0200006, HP:0200007]
HP:0008067 Abnormally lax or hyperextensible skin | [HP:0010647] | [HP:0000974]
HP:0008323 Abnormal rod and cone electroretinograms | [HP:0000512] | []
HP:0008338 Partial functional complement factor D deficiency | [HP:0004431] | []
HP:0008725 Oxalate nephrolithiasis | [HP:0000787] | []
HP:0008736 Hypoplasia of penis | [HP:0000036, HP:0000050] | []
HP:0008843 Hip osteoarthritis | [HP:0002758] | []
HP:0009134 Osteolysis involving bones of the feet | [HP:0001760, HP:0009139] | []
HP:0009140 Synostosis involving bones of the feet | [HP:0001760, HP:0009138] | []
HP:0009142 Duplication of bones involving the upper extremities | [HP:0002817] | [HP:0004275]
HP:0009771 Osteolytic defects of the phalanges of the hand | [HP:0005918, HP:0009699] | []
HP:0009924 Aplasia/Hypoplasia involving the nose | [HP:0005105] | []
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand | [HP:0005920, HP:0010579] | []
HP:0010231 Enlarged epiphyses of the phalanges of the hand | [HP:0005920, HP:0010580] | []
HP:0010238 Triangular epiphyses of the phalanges of the hand | [HP:0005920, HP:0010587] | []
HP:0010442 Polydactyly | [HP:0011297] | [HP:0001161, HP:0001829, HP:0100258, HP:0100259]
HP:0010522 Dyslexia | [HP:0001328] | []
HP:0010551 Paraplegia/paraparesis | [HP:0010549] | [HP:0010550]
HP:0010732 Nodular changes affecting the eyelids | [HP:0000492, HP:0200036] | [HP:0010604]
HP:0010946 Dilatation of the renal pelvis | [HP:0010944] | []
HP:0011103 Abnormality of the left ventricular outflow tract | [HP:0001711] | []
HP:0011125 Abnormality of dermal melanosomes | [HP:0001000] | []
HP:0011217 Abnormal shape of the occiput | [HP:0002648] | [HP:0005469]
HP:0011218 Abnormal shape of the frontal region | [HP:0002648] | [HP:0002007]
HP:0011328 Abnormality of fontanelles | [HP:0000235] | [HP:0000236, HP:0000239]
HP:0011329 Abnormality of cranial sutures | [HP:0000235] | [HP:0000270, HP:0001363, HP:0004492, HP:0010537]
HP:0011358 Generalized hypopigmentation of hair | [HP:0005599] | [HP:0002216]
HP:0011365 Patchy hypopigmentation of hair | [HP:0005599] | [HP:0002211]
HP:0011368 Epidermal thickening | [HP:0001072] | [HP:0000962, HP:0001036, HP:0008064]
HP:0011493 Central opacification of the cornea | [HP:0007759] | [HP:0007881]
HP:0011512 Hyperpigmentation of the fundus | [HP:0008051] | []
HP:0011927 Short digit | [HP:0011297] | [HP:0001156, HP:0009381]
HP:0100262 Synostosis involving digits | [HP:0100240] | [HP:0009700, HP:0100263, HP:0100264]
HP:0100265 Synostosis of metacarpals/metatarsals | [HP:0100240] | [HP:0009701]
HP:0100266 Synostosis of carpals/tarsals | [HP:0100240] | [HP:0009702]
HP:0100314 Cerebral inclusion bodies | [HP:0002060] | [HP:0002185]
HP:0100490 Camptodactyly of finger | [HP:0005651, HP:0006261] | []
HP:0100545 Arterial stenosis | [HP:0005114] | [HP:0001677]
HP:0100639 Erectile abnormalities | [HP:0000036] | [HP:0200023]
HP:0100679 Lack of skin elasticity | [HP:0010647] | []
HP:0100744 Abnormality of the humeroradial joint | [HP:0009811] | [HP:0003083]
HP:0100755 Abnormality of salivation | [HP:0000163] | []
HP:0100852 Abnormal fear/anxiety-related behavior | [HP:0100851] | [HP:0000739]
HP:0200023 Priapism | [HP:0000056, HP:0100639] | []
HP:0000236 Abnormality of the anterior fontanelle | [HP:0011328] | []
HP:0000239 Large fontanelles | [HP:0011328] | [HP:0004492]
HP:0000242 Parietal bossing | [HP:0002696] | []
HP:0000270 Delayed cranial suture closure | [HP:0011329] | []
HP:0000510 Retinitis pigmentosa | [HP:0007703] | []
HP:0000676 Abnormality of the incisor | [HP:0000164] | [HP:0011063, HP:0011064]
HP:0000692 Misalignment of teeth | [HP:0000164] | []
HP:0000717 Autism | [HP:0000729] | []
HP:0000718 Aggressive behavior | [HP:0006919] | [HP:0100716]
HP:0000739 Anxiety | [HP:0100852] | []
HP:0000920 Enlargement of the costochondral junction | [HP:0000919] | []
HP:0000926 Platyspondyly | [HP:0003312] | []
HP:0000962 Hyperkeratosis | [HP:0011368] | [HP:0000982, HP:0007508, HP:0007556, HP:0010765]
HP:0000974 Hyperextensible skin | [HP:0008067] | []
HP:0001036 Parakeratosis | [HP:0011368] | []
HP:0001156 Brachydactyly syndrome | [HP:0011927] | []
HP:0001161 Polydactyly (hands) | [HP:0009997, HP:0010442] | [HP:0001162, HP:0001177]
HP:0001163 Abnormality of the metacarpal bones | [HP:0001155] | [HP:0005914, HP:0009701, HP:0010009, HP:0010012]
HP:0001172 Abnormality of the thumb | [HP:0001167] | [HP:0001177, HP:0001199, HP:0009601, HP:0009602, HP:0009603, HP:0011304]
HP:0001238 Slender finger | [HP:0001167] | [HP:0001166]
HP:0001272 Cerebellar atrophy | [HP:0001317] | []
HP:0001500 Broad finger | [HP:0001167] | [HP:0009768]
HP:0001761 Pes cavus | [HP:0001760] | []
HP:0001770 Toe syndactyly | [HP:0001159, HP:0001780] | []
HP:0001829 Polydactyly (feet) | [HP:0001780, HP:0009136, HP:0010442] | [HP:0001830, HP:0001841]
HP:0001832 Abnormality of the metatarsal bones | [HP:0001760] | [HP:0001964]
HP:0001837 Broad toe | [HP:0001780] | []
HP:0001844 Abnormality of the hallux | [HP:0001780] | [HP:0001841, HP:0010051]
HP:0001850 Abnormality of the tarsal bones | [HP:0001760] | [HP:0008364, HP:0008365]
HP:0001964 Aplasia/Hypoplasia of metatarsal bones | [HP:0001832, HP:0006494] | [HP:0010743]
HP:0001991 Aplasia/Hypoplasia of the toes | [HP:0001780, HP:0006494] | [HP:0011306]
HP:0002061 Lower limb spasticity | [HP:0001257] | [HP:0001258]
HP:0002064 Spastic gait | [HP:0001257] | []
HP:0002185 Neurofibrillary tangles | [HP:0100314] | []
HP:0002211 White forelock | [HP:0011365] | []
HP:0002438 Cerebellar malformation | [HP:0001317] | [HP:0002308, HP:0002334, HP:0002350]
HP:0002518 Abnormality of the periventricular white matter | [HP:0002352] | [HP:0007109]
HP:0002695 Symmetrical, oval parietal bone defects | [HP:0002696] | []
HP:0002751 Kyphoscoliosis | [HP:0002650, HP:0002808] | []
HP:0002818 Abnormality of the radius | [HP:0002973] | [HP:0002974, HP:0003995, HP:0006501]
HP:0002997 Abnormality of the ulna | [HP:0002973] | [HP:0002974, HP:0006495]
HP:0003063 Abnormality of the humerus | [HP:0001454] | [HP:0003871, HP:0006507]
HP:0003083 Dislocated radial head | [HP:0003042, HP:0003995, HP:0100744] | [HP:0005673, HP:0005798]
HP:0003366 Abnormality of the femoral neck and head region | [HP:0002823] | [HP:0003367, HP:0003368]
HP:0004050 Absent hand | [HP:0005927] | []
HP:0004097 Deviation of finger | [HP:0001167, HP:0009484] | [HP:0009179, HP:0009466, HP:0009603]
HP:0004100 Abnormality of the 2nd finger | [HP:0001167] | [HP:0006263, HP:0006264, HP:0009541]
HP:0004150 Abnormality of the 3rd finger | [HP:0001167] | [HP:0009316, HP:0009320]
HP:0004188 Abnormality of the 4th finger | [HP:0001167] | []
HP:0004207 Abnormality of the 5th finger | [HP:0001167] | [HP:0001162, HP:0004213, HP:0006262, HP:0009152, HP:0009179]
HP:0004275 Duplication of hand bones | [HP:0001155, HP:0009142] | [HP:0009997]
HP:0004279 Short palm | [HP:0005927, HP:0100871] | []
HP:0004443 Lambdoidal craniosynostosis | [HP:0001363] | []
HP:0004492 Widely patent fontanelles and sutures | [HP:0000239, HP:0010537, HP:0011329] | []
HP:0005415 Decreased number of CD8+ T cells | [HP:0005403] | []
HP:0005469 Flat occiput | [HP:0011217] | []
HP:0005576 Tubulointerstitial fibrosis | [HP:0001969] | []
HP:0005656 Positional foot deformities | [HP:0001760] | [HP:0001883]
HP:0005792 Short humerus | [HP:0006507] | []
HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones | [HP:0001163, HP:0005927] | []
HP:0005918 Abnormality of phalanx of finger | [HP:0001167] | [HP:0004213, HP:0005920, HP:0006261, HP:0009316, HP:0009541, HP:0009602, HP:0009767, HP:0009768, HP:0009771, HP:0009773, HP:0009774, HP:0009832, HP:0009833, HP:0009834, HP:0009997]
HP:0005924 Abnormality of the epiphyses of the hand | [HP:0001155, HP:0003839] | [HP:0004288, HP:0005920]
HP:0006014 Abnormally shaped carpal bones | [HP:0001191] | []
HP:0006101 Finger syndactyly | [HP:0001159] | []
HP:0006265 Aplasia/Hypoplasia of fingers | [HP:0001167, HP:0005927] | [HP:0006262, HP:0006264, HP:0009380, HP:0009381, HP:0009601]
HP:0006292 Abnormality of dental eruption | [HP:0000164] | [HP:0000684]
HP:0006482 Abnormality of dental morphology | [HP:0000164] | [HP:0000691, HP:0001572, HP:0006486, HP:0011063, HP:0011070]
HP:0006483 Abnormal number of teeth | [HP:0000164] | [HP:0009804, HP:0011064]
HP:0006495 Aplasia/Hypoplasia of the ulna | [HP:0002997, HP:0006503] | [HP:0003022]
HP:0006499 Abnormality of femoral epiphyses | [HP:0002823, HP:0006500] | [HP:0010574]
HP:0006501 Aplasia/Hypoplasia of the radius | [HP:0002818, HP:0006503] | [HP:0002984, HP:0003974]
HP:0007400 Irregular hyperpigmentation | [HP:0000953] | []
HP:0007443 Partial albinism | [HP:0001010] | []
HP:0007513 Generalized hypopigmentation | [HP:0001010] | [HP:0001022]
HP:0007754 Macular dystrophy | [HP:0000608] | []
HP:0007881 Central corneal dystrophy | [HP:0011493] | []
HP:0008064 Ichthyosiform abnormality of the skin | [HP:0011368] | [HP:0007431, HP:0007559]
HP:0009136 Duplication involving bones of the feet | [HP:0001760] | [HP:0001829]
HP:0009381 Short finger | [HP:0006265, HP:0011927] | [HP:0005819, HP:0009237, HP:0009536, HP:0009778, HP:0009882]
HP:0009484 Deviation of the hand or of fingers of the hand | [HP:0001155] | [HP:0001193, HP:0004097, HP:0009485]
HP:0009700 Synostosis involving bones of the fingers | [HP:0004278, HP:0100262] | [HP:0004218, HP:0006152]
HP:0009701 Metacarpal synostosis | [HP:0001163, HP:0004278, HP:0100265] | [HP:0009707]
HP:0009702 Synostosis involving the carpal bones | [HP:0001191, HP:0004278, HP:0100266] | []
HP:0009768 Broad phalanges of the hand | [HP:0001500, HP:0005918, HP:0006009] | [HP:0011304]
HP:0009822 Aplasia involving forearm bones | [HP:0006503] | [HP:0003974]
HP:0009997 Duplication of phalanx of hand | [HP:0001167, HP:0004275, HP:0005918] | [HP:0001161, HP:0009883, HP:0009942, HP:0009998]
HP:0010161 Abnormality of the phalanges of the toes | [HP:0001780] | [HP:0010173, HP:0010177, HP:0010182]
HP:0010235 Pseudoepiphyses of the phalanges of the hand | [HP:0004288, HP:0005920] | []
HP:0010322 Abnormality of the 5th toe | [HP:0001780] | [HP:0001830]
HP:0010511 Long toe | [HP:0001780] | [HP:0001166]
HP:0010537 Wide cranial sutures | [HP:0011329] | [HP:0004492]
HP:0010550 Paraplegia | [HP:0010551] | [HP:0001258]
HP:0011061 Abnormality of dental structure | [HP:0000164] | [HP:0000682, HP:0000685, HP:0006479, HP:0010299]
HP:0011077 Abnormality of molar | [HP:0000164] | [HP:0011070]
HP:0011371 Recurrent viral skin infections | [HP:0001581] | []
HP:0100258 Preaxial polydactyly | [HP:0010442] | [HP:0001177, HP:0001841]
HP:0100259 Postaxial polydactyly | [HP:0010442] | [HP:0001162, HP:0001830]
HP:0100263 Distal symphalangism | [HP:0100262] | []
HP:0100264 Proximal symphalangism | [HP:0100262] | [HP:0006152]
HP:0100498 Deviation of toes | [HP:0001780] | [HP:0010051]
HP:0100736 Abnormality of the soft palate | [HP:0000174] | [HP:0000172, HP:0000185]
HP:0100737 Abnormality of the hard palate | [HP:0000174] | [HP:0000175]
HP:0100807 Long fingers | [HP:0001167] | [HP:0001166]
HP:0100871 Abnormality of the palm | [HP:0001155] | [HP:0000972, HP:0004279]
HP:0200006 Slanting of the palpebral fissure | [HP:0008050] | [HP:0000494]
HP:0200007 Abnormal size of the palpebral fissures | [HP:0008050] | []
HP:0000172 Abnormality of the uvula | [HP:0100736] | [HP:0000193]
HP:0000494 Downslanted palpebral fissures | [HP:0200006] | []
HP:0000682 Abnormality of dental enamel | [HP:0011061] | [HP:0006297]
HP:0000684 Delayed eruption of teeth | [HP:0006292] | []
HP:0000685 Hypoplasia of teeth | [HP:0011061] | [HP:0006297]
HP:0000691 Microdontia | [HP:0006482] | []
HP:0000982 Palmoplantar keratoderma | [HP:0000962] | []
HP:0001162 Postaxial polydactyly (hands) | [HP:0001161, HP:0004207, HP:0100259] | []
HP:0001166 Arachnodactyly | [HP:0001238, HP:0010511, HP:0100807] | []
HP:0001177 Preaxial polydactyly (hands) | [HP:0001161, HP:0001172, HP:0100258] | []
HP:0001193 Ulnar deviation of the hand or of fingers of the hand | [HP:0009484] | []
HP:0001199 Triphalangeal thumb | [HP:0001172, HP:0009619] | []
HP:0001258 Spastic paraplegia | [HP:0002061, HP:0010550] | []
HP:0001572 Macrodontia | [HP:0006482] | [HP:0011081]
HP:0001830 Postaxial polydactyly of foot | [HP:0001829, HP:0010322, HP:0100259] | []
HP:0001841 Preaxial polydactyly of foot | [HP:0001829, HP:0001844, HP:0100258] | []
HP:0001883 Talipes | [HP:0005656] | [HP:0001762]
HP:0002308 Arnold-Chiari malformation | [HP:0002438] | []
HP:0002334 Abnormality of the cerebellar vermis | [HP:0002438] | [HP:0006817]
HP:0003367 Abnormality of the femoral neck | [HP:0003366] | [HP:0002812]
HP:0003368 Abnormality of the femoral head | [HP:0003366] | [HP:0010574]
HP:0003871 Deformed humerus | [HP:0003063] | []
HP:0003995 Abnormality of the radial head | [HP:0002818] | [HP:0003083]
HP:0004213 Abnormality of the phalanges of the 5th finger | [HP:0004207, HP:0005918] | [HP:0004218, HP:0004219, HP:0009150, HP:0009376]
HP:0004218 Symphalangism of the 5th finger | [HP:0004213, HP:0009700, HP:0009773] | [HP:0009178, HP:0009232]
HP:0005673 Congenital radial head dislocation | [HP:0003083] | []
HP:0005798 Congenital radial head posterior dislocation | [HP:0003083] | []
HP:0005819 Short middle phalanx of finger | [HP:0009381, HP:0009803, HP:0009843] | []
HP:0005920 Abnormality of the epiphyses of the phalanges of the hand | [HP:0005918, HP:0005924] | [HP:0006263, HP:0009152, HP:0009320, HP:0010230, HP:0010231, HP:0010235, HP:0010238, HP:0010244, HP:0010245]
HP:0006152 Proximal symphalangism (hands) | [HP:0009700, HP:0009773, HP:0100264] | []
HP:0006261 Abnormality of phalangeal joints of the hand | [HP:0005918] | [HP:0100490]
HP:0006262 Aplasia/Hypoplasia of the 5th finger | [HP:0004207, HP:0006265] | [HP:0009237, HP:0009238]
HP:0006263 Abnormality of the epiphyses of the 2nd finger | [HP:0004100, HP:0005920] | []
HP:0006264 Aplasia/Hypoplasia of the 2nd finger | [HP:0004100, HP:0006265] | [HP:0009536]
HP:0006479 Abnormality of the dental pulp | [HP:0011061] | [HP:0000679, HP:0003771]
HP:0006486 Abnormality of the dental root | [HP:0006482] | [HP:0000679]
HP:0007431 Congenital ichthyosiform erythroderma | [HP:0008064] | [HP:0007475]
HP:0007508 Punctate palmar and solar hyperkeratosis | [HP:0000962] | []
HP:0007556 Plantar hyperkeratosis | [HP:0000962] | [HP:0000972]
HP:0007559 Localized epidermolytic hyperkeratosis | [HP:0008064] | []
HP:0008364 Abnormality of the calcaneus | [HP:0001850] | []
HP:0008365 Abnormality of the talus | [HP:0001850] | []
HP:0009152 Abnormality of the epiphyses of the 5th finger | [HP:0004207, HP:0005920] | []
HP:0009179 Deviation of the 5th finger | [HP:0004097, HP:0004207] | [HP:0004209]
HP:0009237 Short 5th finger | [HP:0006262, HP:0009381] | []
HP:0009316 Abnormality of the phalanges of the 3rd finger | [HP:0004150, HP:0005918] | []
HP:0009320 Abnormality of the epiphyses of the 3rd finger | [HP:0004150, HP:0005920] | []
HP:0009380 Aplasia of the fingers | [HP:0006265] | [HP:0009238, HP:0009777, HP:0010239]
HP:0009466 Radial deviation of finger | [HP:0004097, HP:0009485] | [HP:0004209]
HP:0009485 Radial deviation of the hand or of fingers of the hand | [HP:0009484] | [HP:0009466]
HP:0009536 Short 2nd finger | [HP:0006264, HP:0009381] | []
HP:0009541 Abnormality of the phalanges of the 2nd finger | [HP:0004100, HP:0005918] | []
HP:0009601 Aplasia/Hypoplasia of the thumb | [HP:0001172, HP:0006265] | [HP:0009777, HP:0009778]
HP:0009602 Abnormality of the phalanges of the thumb | [HP:0001172, HP:0005918] | [HP:0009617, HP:0009619, HP:0009658, HP:0009942, HP:0010009, HP:0011304]
HP:0009603 Deviation/Displacement of the thumb | [HP:0001172, HP:0004097] | []
HP:0009707 Synostosis involving the 4th metacarpal | [HP:0009701, HP:0010012] | []
HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand | [HP:0005918] | [HP:0009376, HP:0009658, HP:0009802, HP:0009803, HP:0009835, HP:0009843]
HP:0009773 Symphalangism affecting the phalanges of the hand | [HP:0005918] | [HP:0004218, HP:0006152, HP:0009849, HP:0009857]
HP:0009774 Triangular shaped phalanges of the hand | [HP:0005918] | [HP:0009850]
HP:0009778 Short thumb | [HP:0009381, HP:0009601] | []
HP:0009804 Reduced number of teeth | [HP:0006483] | [HP:0000668, HP:0000677, HP:0001592]
HP:0009832 Abnormality of the distal phalanx of finger | [HP:0005918] | [HP:0009835, HP:0009883]
HP:0009833 Abnormality of the middle phalanges of the hand | [HP:0005918] | [HP:0009843, HP:0009849, HP:0009850, HP:0010244]
HP:0009834 Abnormality of the proximal phalanges of the hand | [HP:0005918] | [HP:0009857, HP:0010245]
HP:0009882 Short distal phalanx of finger | [HP:0009381, HP:0009803, HP:0009835] | []
HP:0009883 Duplication of the distal phalanx of hand | [HP:0009832, HP:0009997] | [HP:0009612]
HP:0009942 Duplication of phalanx of thumb | [HP:0009602, HP:0009997] | [HP:0009612, HP:0009943]
HP:0009998 Complete duplication of phalanx of hand | [HP:0009997] | [HP:0009943]
HP:0010009 Abnormality of the 1st metacarpal | [HP:0001163, HP:0009602] | []
HP:0010012 Abnormality of the 4th metacarpal | [HP:0001163] | [HP:0009707]
HP:0010051 Deviation/Displacement of the hallux | [HP:0001844, HP:0100498] | []
HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes | [HP:0010161] | [HP:0010185]
HP:0010177 Osteolytic defects of the phalanges of the toes | [HP:0010161] | []
HP:0010182 Abnormality of the distal phalanges of the toes | [HP:0010161] | [HP:0010185]
HP:0010299 Abnormality of dentin | [HP:0011061] | [HP:0000703]
HP:0010574 Abnormality of the epiphysis of the femoral head | [HP:0003368, HP:0006499] | []
HP:0010765 Palmar hyperkeratosis | [HP:0000962] | [HP:0000972]
HP:0011063 Abnormality of incisor morphology | [HP:0000676, HP:0006482] | [HP:0006358, HP:0011081]
HP:0011064 Abnormal number of incisors | [HP:0000676, HP:0006483] | [HP:0006485]
HP:0011070 Abnormality of molar morphology | [HP:0006482, HP:0011077] | [HP:0011071]
HP:0011304 Broad thumb | [HP:0001172, HP:0009602, HP:0009768] | []
HP:0011306 Aplasia of the toes | [HP:0001991] | [HP:0010185]
HP:0100716 Autoagression | [HP:0000718] | [HP:0000742]
HP:0000193 Bifid uvula | [HP:0000172] | []
HP:0000668 Hypodontia | [HP:0009804] | []
HP:0000677 Oligodontia | [HP:0009804] | []
HP:0000679 Taurodontia | [HP:0006479, HP:0006486, HP:0011071] | []
HP:0000703 Dentinogenesis imperfecta | [HP:0010299] | []
HP:0000742 Self-mutilation | [HP:0100716] | []
HP:0001592 Selective tooth agenesis | [HP:0009804] | [HP:0006485]
HP:0001762 Talipes equinovarus | [HP:0001883] | []
HP:0002812 Coxa vara | [HP:0003367] | []
HP:0003771 Pulp stones | [HP:0006479] | []
HP:0004209 Clinodactyly of the 5th finger | [HP:0009179, HP:0009466] | []
HP:0004219 Abnormality of the middle phalanx of the 5th finger | [HP:0004213] | [HP:0009161, HP:0009178]
HP:0006297 Hypoplasia of dental enamel | [HP:0000682, HP:0000685] | []
HP:0006358 Shovel-shaped maxillary central incisors | [HP:0011063] | []
HP:0006485 Agenesis of incisor | [HP:0001592, HP:0011064] | []
HP:0006817 Aplasia/Hypoplasia of the  cerebellar vermis | [HP:0002334] | [HP:0001320]
HP:0007475 Congenital bullous ichthyosiform erythroderma | [HP:0007431] | []
HP:0009150 Abnormality of the proximal phalanx of the 5th finger | [HP:0004213] | [HP:0009232]
HP:0009178 Symphalangism of middle phalanx of 5th finger | [HP:0004218, HP:0004219, HP:0009849] | []
HP:0009232 Symphalangism affecting the proximal phalanx of the 5th finger | [HP:0004218, HP:0009150, HP:0009857] | []
HP:0009238 Aplasia of the 5th finger | [HP:0006262, HP:0009380] | []
HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger | [HP:0004213, HP:0009767] | [HP:0009161]
HP:0009612 Duplication of the distal phalanx of the thumb | [HP:0009617, HP:0009883, HP:0009942] | []
HP:0009617 Abnormality of the distal phalanx of the thumb | [HP:0009602] | [HP:0009612]
HP:0009619 Accessory phalanx of the thumb | [HP:0009602] | [HP:0001199]
HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb | [HP:0009602, HP:0009767] | []
HP:0009777 Absent thumb | [HP:0009380, HP:0009601] | []
HP:0009802 Aplasia of the phalanges of the hand | [HP:0009767] | [HP:0010239]
HP:0009803 Short phalanx of finger | [HP:0009767] | [HP:0005819, HP:0009882]
HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand | [HP:0009767, HP:0009832] | [HP:0009882]
HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand | [HP:0009767, HP:0009833] | [HP:0005819, HP:0010239]
HP:0009849 Symphalangism of middle phalanx of finger | [HP:0009773, HP:0009833] | [HP:0009178]
HP:0009850 Triangular shaped middle phalanges of the hand | [HP:0009774, HP:0009833] | []
HP:0009857 Symphalangism affecting the proximal phalanges of the hand | [HP:0009773, HP:0009834] | [HP:0009232]
HP:0009943 Complete duplication of the phalanges of the thumb | [HP:0009942, HP:0009998] | []
HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes | [HP:0010173, HP:0010182, HP:0011306] | []
HP:0010239 Aplasia of the middle phalanx of the hand | [HP:0009380, HP:0009802, HP:0009843] | []
HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand | [HP:0005920, HP:0009833] | []
HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand | [HP:0005920, HP:0009834] | []
HP:0011071 Abnormality of permanent molar morphology | [HP:0011070] | [HP:0000679]
HP:0011081 Incisor macrodontia | [HP:0001572, HP:0011063] | []
HP:0001320 Cerebellar vermis hypoplasia | [HP:0006817] | [HP:0001305]
HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger | [HP:0004219, HP:0009376] | []
{0=1, 1=1193, 2=278, 3=42, 4=3}

SIZE 1517
MIN: 0
MAX: 4
AVG: 1.2439024390243902