Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
..Starting node
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Constitutional symptom (HP:0025142)help
Term ID: 25142
Name: Constitutional symptom
Synonym:
Definition: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Comments:
Reference: HP:0025142
Genes and Diseases:
 
       Child Nodes:
........expandFatigue (HP:0012378) help
................... HP:0012431 Episodic fatigue
................... HP:0012432 Chronic fatigue
................... HP:0030973 Postexertional malaise
........expandPain (HP:0012531) help
................... HP:0002027 Abdominal pain
................... HP:0002653 Bone pain
................... HP:0002829 Arthralgia
................... HP:0003326 Myalgia
................... HP:0003418 Back pain
................... HP:0006649 Costochondral pain
................... HP:0009763 Limb pain
................... HP:0012532 Chronic pain
................... HP:0012533 Allodynia
................... HP:0025238 Foot pain
................... HP:0030155 Scrotal pain
................... HP:0030157 Flank pain
................... HP:0030766 Ear pain
................... HP:0030833 Neck pain
................... HP:0030834 Shoulder pain
................... HP:0030835 Elbow pain
................... HP:0030836 Wrist pain
................... HP:0030837 Finger pain
................... HP:0030838 Hip pain
................... HP:0030839 Knee pain
................... HP:0030840 Ankle pain
................... HP:0030841 Toe pain
................... HP:0030943 Vulvodynia
................... HP:0031520 Groin pain
................... HP:0040264 Jaw pain
................... HP:0100749 Chest pain
................... HP:0200025 Mandibular pain
................... HP:0200026 Ocular pain
................... HP:0410019 Epigastric pain
................... HP:0500005 Anal pain
........expandChills (HP:0025143) help
................... HP:0025145 Rigors
........expandShivering (HP:0025144) help
................... HP:0025145 Rigors
........expandAsthenia (HP:0025406) help
........expandNight sweats (HP:0030166) help
........expandImpairment of activities of daily living (HP:0031058) help
................... HP:0031059 Impaired ability to bathe oneself
................... HP:0031060 Impaired ability to dress oneself
................... HP:0031061 Impaired toileting ability
................... HP:0031062 Impaired transferring ability
................... HP:0031063 Impaired feeding ability
................... HP:0031064 Impaired continence
........expandHot flashes (HP:0031217) help
........expandChest tightness (HP:0031352) help
........expandBody odor (HP:0500001) help
................... HP:0410020 Fish odor
................... HP:0410021 Musty odor

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025142HP:0025142Constitutional symptom0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0025142HP:0025142Constitutional symptom0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0025142HP:0025142Constitutional symptom0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0025142HP:0025142Constitutional symptom0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0025142HP:0025142Constitutional symptom0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0025142HP:0025142Constitutional symptom0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0025142HP:0025142Constitutional symptom0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasis111
HP:0025142HP:0025142Constitutional symptom0ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndrome119
HP:0025142HP:0025142Constitutional symptom0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0025142HP:0025142Constitutional symptom0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0025142HP:0025142Constitutional symptom0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0025142HP:0025142Constitutional symptom0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0025142HP:0025142Constitutional symptom0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0025142HP:0025142Constitutional symptom0ABCD1 CL E G H21561ORPHA:388Hirschsprung disease135
HP:0025142HP:0025142Constitutional symptom0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemia67
HP:0025142HP:0025142Constitutional symptom0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemia76
HP:0025142HP:0025142Constitutional symptom0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0025142HP:0025142Constitutional symptom0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemia51
HP:0025142HP:0025142Constitutional symptom0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0025142HP:0025142Constitutional symptom0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0025142HP:0025142Constitutional symptom0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0025142HP:0025142Constitutional symptom0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0025142HP:0025142Constitutional symptom0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0025142HP:0025142Constitutional symptom0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0025142HP:0025142Constitutional symptom0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0025142HP:0025142Constitutional symptom0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemia68
HP:0025142HP:0025142Constitutional symptom0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0025142HP:0025142Constitutional symptom0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0025142HP:0025142Constitutional symptom0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0025142HP:0025142Constitutional symptom0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum type208
HP:0025142HP:0025142Constitutional symptom0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0025142HP:0025142Constitutional symptom0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 123
HP:0025142HP:0025142Constitutional symptom0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0025142HP:0025142Constitutional symptom0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0025142HP:0025142Constitutional symptom0ADAMTS19 CL E G H17101917111OMIM:6200671
HP:0025142HP:0025142Constitutional symptom0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0025142HP:0025142Constitutional symptom0AGBL1 CL E G H12362426504ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0025142HP:0025142Constitutional symptom0AGK CL E G H5575021869OMIM:212350Sengers syndrome82
HP:0025142HP:0025142Constitutional symptom0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I260
HP:0025142HP:0025142Constitutional symptom0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0025142HP:0025142Constitutional symptom0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0025142HP:0025142Constitutional symptom0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0025142HP:0025142Constitutional symptom0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0025142HP:0025142Constitutional symptom0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0025142HP:0025142Constitutional symptom0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0025142HP:0025142Constitutional symptom0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic62
HP:0025142HP:0025142Constitutional symptom0ALAS2 CL E G H212397OMIM:300751Anemia, sideroblastic, X-linked72
HP:0025142HP:0025142Constitutional symptom0ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemia72
HP:0025142HP:0025142Constitutional symptom0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0025142HP:0025142Constitutional symptom0ALB CL E G H213399ORPHA:86816Congenital analbuminemia104
HP:0025142HP:0025142Constitutional symptom0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0025142HP:0025142Constitutional symptom0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0025142HP:0025142Constitutional symptom0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0025142HP:0025142Constitutional symptom0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0025142HP:0025142Constitutional symptom0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0025142HP:0025142Constitutional symptom0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0025142HP:0025142Constitutional symptom0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary73
HP:0025142HP:0025142Constitutional symptom0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025142HP:0025142Constitutional symptom0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0025142HP:0025142Constitutional symptom0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0025142HP:0025142Constitutional symptom0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0025142HP:0025142Constitutional symptom0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0025142HP:0025142Constitutional symptom0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0025142HP:0025142Constitutional symptom0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0025142HP:0025142Constitutional symptom0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0025142HP:0025142Constitutional symptom0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0025142HP:0025142Constitutional symptom0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0025142HP:0025142Constitutional symptom0AMPD1 CL E G H270468ORPHA:45Adenosine monophosphate deaminase deficiency62
HP:0025142HP:0025142Constitutional symptom0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0025142HP:0025142Constitutional symptom0AMPD3 CL E G H272470ORPHA:45Adenosine monophosphate deaminase deficiency65
HP:0025142HP:0025142Constitutional symptom0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0025142HP:0025142Constitutional symptom0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0025142HP:0025142Constitutional symptom0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0025142HP:0025142Constitutional symptom0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related539
HP:0025142HP:0025142Constitutional symptom0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0025142HP:0025142Constitutional symptom0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0025142HP:0025142Constitutional symptom0ANKH CL E G H5617215492ORPHA:1416Familial calcium pyrophosphate deposition164
HP:0025142HP:0025142Constitutional symptom0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142HP:0025142Constitutional symptom0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0025142HP:0025142Constitutional symptom0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0025142HP:0025142Constitutional symptom0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0025142HP:0025142Constitutional symptom0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0025142HP:0025142Constitutional symptom0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0025142HP:0025142Constitutional symptom0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025142HP:0025142Constitutional symptom0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III6
HP:0025142HP:0025142Constitutional symptom0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0025142HP:0025142Constitutional symptom0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0025142HP:0025142Constitutional symptom0APC CL E G H324583ORPHA:873Desmoid tumor3179
HP:0025142HP:0025142Constitutional symptom0APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0025142HP:0025142Constitutional symptom0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0025142HP:0025142Constitutional symptom0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemia356
HP:0025142HP:0025142Constitutional symptom0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0025142HP:0025142Constitutional symptom0APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiency19
HP:0025142HP:0025142Constitutional symptom0APRT CL E G H353626OMIM:614723Adenine phosphoribosyltransferase deficiency19
HP:0025142HP:0025142Constitutional symptom0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0025142HP:0025142Constitutional symptom0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0025142HP:0025142Constitutional symptom0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 27
HP:0025142HP:0025142Constitutional symptom0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0025142HP:0025142Constitutional symptom0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0025142HP:0025142Constitutional symptom0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0025142HP:0025142Constitutional symptom0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0025142HP:0025142Constitutional symptom0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0025142HP:0025142Constitutional symptom0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0025142HP:0025142Constitutional symptom0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0025142HP:0025142Constitutional symptom0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0025142HP:0025142Constitutional symptom0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0025142HP:0025142Constitutional symptom0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0025142HP:0025142Constitutional symptom0ASPN CL E G H5482914872OMIM:607850Hand osteoarthritis2
HP:0025142HP:0025142Constitutional symptom0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0025142HP:0025142Constitutional symptom0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0025142HP:0025142Constitutional symptom0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm145
HP:0025142HP:0025142Constitutional symptom0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0025142HP:0025142Constitutional symptom0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0025142HP:0025142Constitutional symptom0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0025142HP:0025142Constitutional symptom0ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0025142HP:0025142Constitutional symptom0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0025142HP:0025142Constitutional symptom0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0025142HP:0025142Constitutional symptom0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0025142HP:0025142Constitutional symptom0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive
HP:0025142HP:0025142Constitutional symptom0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025142HP:0025142Constitutional symptom0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0025142HP:0025142Constitutional symptom0ATP7A CL E G H538869ORPHA:388Hirschsprung disease192
HP:0025142HP:0025142Constitutional symptom0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0025142HP:0025142Constitutional symptom0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0025142HP:0025142Constitutional symptom0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0025142HP:0025142Constitutional symptom0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0025142HP:0025142Constitutional symptom0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0025142HP:0025142Constitutional symptom0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0025142HP:0025142Constitutional symptom0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0025142HP:0025142Constitutional symptom0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0025142HP:0025142Constitutional symptom0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0025142HP:0025142Constitutional symptom0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0025142HP:0025142Constitutional symptom0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0025142HP:0025142Constitutional symptom0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0025142HP:0025142Constitutional symptom0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0025142HP:0025142Constitutional symptom0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosis8
HP:0025142HP:0025142Constitutional symptom0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0025142HP:0025142Constitutional symptom0BAP1 CL E G H8314950ORPHA:50251Pleural mesotheliomaHP:0040282 - Frequent184
HP:0025142HP:0025142Constitutional symptom0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0025142HP:0025142Constitutional symptom0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0025142HP:0025142Constitutional symptom0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0025142HP:0025142Constitutional symptom0BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0025142HP:0025142Constitutional symptom0BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0025142HP:0025142Constitutional symptom0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0025142HP:0025142Constitutional symptom0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemia5
HP:0025142HP:0025142Constitutional symptom0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0025142HP:0025142Constitutional symptom0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0025142HP:0025142Constitutional symptom0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0025142HP:0025142Constitutional symptom0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0025142HP:0025142Constitutional symptom0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0025142HP:0025142Constitutional symptom0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0025142HP:0025142Constitutional symptom0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0025142HP:0025142Constitutional symptom0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 113
HP:0025142HP:0025142Constitutional symptom0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0025142HP:0025142Constitutional symptom0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0025142HP:0025142Constitutional symptom0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0025142HP:0025142Constitutional symptom0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0025142HP:0025142Constitutional symptom0BNC2 CL E G H5479630988OMIM:618612LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO22
HP:0025142HP:0025142Constitutional symptom0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valve22
HP:0025142HP:0025142Constitutional symptom0BRCA1 CL E G H6721100ORPHA:70567Cholangiocarcinoma5769
HP:0025142HP:0025142Constitutional symptom0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0025142HP:0025142Constitutional symptom0BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinoma5769
HP:0025142HP:0025142Constitutional symptom0BRCA2 CL E G H6751101ORPHA:70567Cholangiocarcinoma7642
HP:0025142HP:0025142Constitutional symptom0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0025142HP:0025142Constitutional symptom0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0025142HP:0025142Constitutional symptom0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0025142HP:0025142Constitutional symptom0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0025142HP:0025142Constitutional symptom0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0025142HP:0025142Constitutional symptom0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0025142HP:0025142Constitutional symptom0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0025142HP:0025142Constitutional symptom0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0025142HP:0025142Constitutional symptom0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0025142HP:0025142Constitutional symptom0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0025142HP:0025142Constitutional symptom0C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 27
HP:0025142HP:0025142Constitutional symptom0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0025142HP:0025142Constitutional symptom0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0025142HP:0025142Constitutional symptom0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0025142HP:0025142Constitutional symptom0CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0025142HP:0025142Constitutional symptom0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0025142HP:0025142Constitutional symptom0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0025142HP:0025142Constitutional symptom0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0025142HP:0025142Constitutional symptom0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0025142HP:0025142Constitutional symptom0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0025142HP:0025142Constitutional symptom0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0025142HP:0025142Constitutional symptom0CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndrome59
HP:0025142HP:0025142Constitutional symptom0CALM1 CL E G H8011442ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia18
HP:0025142HP:0025142Constitutional symptom0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0025142HP:0025142Constitutional symptom0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0025142HP:0025142Constitutional symptom0CALM1 CL E G H8011442OMIM:614916Ventricular tachycardia, catecholaminergic polymorphic, 418
HP:0025142HP:0025142Constitutional symptom0CALM2 CL E G H8051445ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia13
HP:0025142HP:0025142Constitutional symptom0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0025142HP:0025142Constitutional symptom0CALM3 CL E G H8081449ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia16
HP:0025142HP:0025142Constitutional symptom0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0025142HP:0025142Constitutional symptom0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0025142HP:0025142Constitutional symptom0CALR CL E G H8111455ORPHA:3318Essential thrombocythemia1
HP:0025142HP:0025142Constitutional symptom0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0025142HP:0025142Constitutional symptom0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0025142HP:0025142Constitutional symptom0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4323
HP:0025142HP:0025142Constitutional symptom0CARD8 CL E G H2290017057OMIM:619079INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD301
HP:0025142HP:0025142Constitutional symptom0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0025142HP:0025142Constitutional symptom0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0025142HP:0025142Constitutional symptom0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0025142HP:0025142Constitutional symptom0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates5
HP:0025142HP:0025142Constitutional symptom0CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathy5
HP:0025142HP:0025142Constitutional symptom0CASQ2 CL E G H8451513ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia129
HP:0025142HP:0025142Constitutional symptom0CASQ2 CL E G H8451513OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1129
HP:0025142HP:0025142Constitutional symptom0CASQ2 CL E G H8451513OMIM:611938Ventricular tachycardia, catecholaminergic polymorphic, 2129
HP:0025142HP:0025142Constitutional symptom0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0025142HP:0025142Constitutional symptom0CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitis272
HP:0025142HP:0025142Constitutional symptom0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0025142HP:0025142Constitutional symptom0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529OMIM:192600Cardiomyopathy, familial hypertrophic 1148
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0025142HP:0025142Constitutional symptom0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0025142HP:0025142Constitutional symptom0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0025142HP:0025142Constitutional symptom0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0025142HP:0025142Constitutional symptom0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0025142HP:0025142Constitutional symptom0CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to3
HP:0025142HP:0025142Constitutional symptom0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0025142HP:0025142Constitutional symptom0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0025142HP:0025142Constitutional symptom0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0025142HP:0025142Constitutional symptom0CCND1 CL E G H5951582ORPHA:29073Multiple myeloma1
HP:0025142HP:0025142Constitutional symptom0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0025142HP:0025142Constitutional symptom0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0025142HP:0025142Constitutional symptom0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0025142HP:0025142Constitutional symptom0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0025142HP:0025142Constitutional symptom0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0025142HP:0025142Constitutional symptom0CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0025142HP:0025142Constitutional symptom0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0025142HP:0025142Constitutional symptom0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0025142HP:0025142Constitutional symptom0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0025142HP:0025142Constitutional symptom0CD46 CL E G H41796953ORPHA:244242HELLP syndrome39
HP:0025142HP:0025142Constitutional symptom0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy9
HP:0025142HP:0025142Constitutional symptom0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0025142HP:0025142Constitutional symptom0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0025142HP:0025142Constitutional symptom0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0025142HP:0025142Constitutional symptom0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0025142HP:0025142Constitutional symptom0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0025142HP:0025142Constitutional symptom0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0025142HP:0025142Constitutional symptom0CDH2 CL E G H10001759OMIM:618920ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0025142HP:0025142Constitutional symptom0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0025142HP:0025142Constitutional symptom0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0025142HP:0025142Constitutional symptom0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0025142HP:0025142Constitutional symptom0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0025142HP:0025142Constitutional symptom0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0025142HP:0025142Constitutional symptom0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0025142HP:0025142Constitutional symptom0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0025142HP:0025142Constitutional symptom0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0025142HP:0025142Constitutional symptom0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0025142HP:0025142Constitutional symptom0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0025142HP:0025142Constitutional symptom0CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction25
HP:0025142HP:0025142Constitutional symptom0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0025142HP:0025142Constitutional symptom0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 16
HP:0025142HP:0025142Constitutional symptom0CFH CL E G H30754883ORPHA:244242HELLP syndrome86
HP:0025142HP:0025142Constitutional symptom0CFI CL E G H34265394ORPHA:244242HELLP syndrome57
HP:0025142HP:0025142Constitutional symptom0CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitis1371
HP:0025142HP:0025142Constitutional symptom0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasis1371
HP:0025142HP:0025142Constitutional symptom0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary1371
HP:0025142HP:0025142Constitutional symptom0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0025142HP:0025142Constitutional symptom0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0025142HP:0025142Constitutional symptom0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0025142HP:0025142Constitutional symptom0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0025142HP:0025142Constitutional symptom0CHEK2 CL E G H1120016627ORPHA:668Osteosarcoma833
HP:0025142HP:0025142Constitutional symptom0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0025142HP:0025142Constitutional symptom0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0025142HP:0025142Constitutional symptom0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0025142HP:0025142Constitutional symptom0CHRNA2 CL E G H11351956OMIM:610353Epilepsy, nocturnal frontal lobe, 4188
HP:0025142HP:0025142Constitutional symptom0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0025142HP:0025142Constitutional symptom0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0025142HP:0025142Constitutional symptom0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasia165
HP:0025142HP:0025142Constitutional symptom0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0025142HP:0025142Constitutional symptom0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophy129
HP:0025142HP:0025142Constitutional symptom0CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0025142HP:0025142Constitutional symptom0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum type5
HP:0025142HP:0025142Constitutional symptom0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus type5
HP:0025142HP:0025142Constitutional symptom0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndrome6
HP:0025142HP:0025142Constitutional symptom0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant133
HP:0025142HP:0025142Constitutional symptom0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive133
HP:0025142HP:0025142Constitutional symptom0CLCN5 CL E G H11842023OMIM:300009Dent disease 1112
HP:0025142HP:0025142Constitutional symptom0CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive112
HP:0025142HP:0025142Constitutional symptom0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosis102
HP:0025142HP:0025142Constitutional symptom0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0025142HP:0025142Constitutional symptom0CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0025142HP:0025142Constitutional symptom0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0025142HP:0025142Constitutional symptom0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal58
HP:0025142HP:0025142Constitutional symptom0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0025142HP:0025142Constitutional symptom0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0025142HP:0025142Constitutional symptom0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0025142HP:0025142Constitutional symptom0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0025142HP:0025142Constitutional symptom0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid type79
HP:0025142HP:0025142Constitutional symptom0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0025142HP:0025142Constitutional symptom0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia222
HP:0025142HP:0025142Constitutional symptom0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0025142HP:0025142Constitutional symptom0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III222
HP:0025142HP:0025142Constitutional symptom0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0025142HP:0025142Constitutional symptom0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 196
HP:0025142HP:0025142Constitutional symptom0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0025142HP:0025142Constitutional symptom0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0025142HP:0025142Constitutional symptom0COL17A1 CL E G H13082194OMIM:122400Epithelial recurrent erosion dystrophy129
HP:0025142HP:0025142Constitutional symptom0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0025142HP:0025142Constitutional symptom0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200OMIM:608805Avascular necrosis of femoral head, primary, 1284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:86820Familial avascular necrosis of femoral head284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:2380Legg-Calvé-Perthes disease284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton type284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1284
HP:0025142HP:0025142Constitutional symptom0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0025142HP:0025142Constitutional symptom0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0025142HP:0025142Constitutional symptom0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0025142HP:0025142Constitutional symptom0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0025142HP:0025142Constitutional symptom0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0025142HP:0025142Constitutional symptom0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0025142HP:0025142Constitutional symptom0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0025142HP:0025142Constitutional symptom0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0025142HP:0025142Constitutional symptom0COL8A2 CL E G H12962216ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0025142HP:0025142Constitutional symptom0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0025142HP:0025142Constitutional symptom0COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0025142HP:0025142Constitutional symptom0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0025142HP:0025142Constitutional symptom0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0025142HP:0025142Constitutional symptom0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0025142HP:0025142Constitutional symptom0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0025142HP:0025142Constitutional symptom0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0025142HP:0025142Constitutional symptom0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0025142HP:0025142Constitutional symptom0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0025142HP:0025142Constitutional symptom0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 189
HP:0025142HP:0025142Constitutional symptom0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0025142HP:0025142Constitutional symptom0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0025142HP:0025142Constitutional symptom0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0025142HP:0025142Constitutional symptom0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0025142HP:0025142Constitutional symptom0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0025142HP:0025142Constitutional symptom0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0025142HP:0025142Constitutional symptom0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0025142HP:0025142Constitutional symptom0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0025142HP:0025142Constitutional symptom0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0025142HP:0025142Constitutional symptom0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4136
HP:0025142HP:0025142Constitutional symptom0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0025142HP:0025142Constitutional symptom0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0025142HP:0025142Constitutional symptom0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0025142HP:0025142Constitutional symptom0COX1 CL E G H45127419ORPHA:550MELAS
HP:0025142HP:0025142Constitutional symptom0COX2 CL E G H45137421ORPHA:550MELAS
HP:0025142HP:0025142Constitutional symptom0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0025142HP:0025142Constitutional symptom0COX3 CL E G H45147422ORPHA:550MELAS
HP:0025142HP:0025142Constitutional symptom0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0025142HP:0025142Constitutional symptom0CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitis5
HP:0025142HP:0025142Constitutional symptom0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0025142HP:0025142Constitutional symptom0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0025142HP:0025142Constitutional symptom0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiency99
HP:0025142HP:0025142Constitutional symptom0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0025142HP:0025142Constitutional symptom0CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic form101
HP:0025142HP:0025142Constitutional symptom0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0025142HP:0025142Constitutional symptom0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced101
HP:0025142HP:0025142Constitutional symptom0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0025142HP:0025142Constitutional symptom0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0025142HP:0025142Constitutional symptom0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0025142HP:0025142Constitutional symptom0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0025142HP:0025142Constitutional symptom0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0025142HP:0025142Constitutional symptom0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndrome24
HP:0025142HP:0025142Constitutional symptom0CRLF1 CL E G H92442364ORPHA:930Idiopathic achalasia24
HP:0025142HP:0025142Constitutional symptom0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0025142HP:0025142Constitutional symptom0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0025142HP:0025142Constitutional symptom0CSRP3 CL E G H80482472OMIM:612124Cardiomyopathy, familial hypertrophic, 12104
HP:0025142HP:0025142Constitutional symptom0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0025142HP:0025142Constitutional symptom0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0025142HP:0025142Constitutional symptom0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0025142HP:0025142Constitutional symptom0CTNNB1 CL E G H14992514ORPHA:873Desmoid tumor88
HP:0025142HP:0025142Constitutional symptom0CTNNB1 CL E G H14992514ORPHA:33402Pediatric hepatocellular carcinoma88
HP:0025142HP:0025142Constitutional symptom0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosis178
HP:0025142HP:0025142Constitutional symptom0CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitis39
HP:0025142HP:0025142Constitutional symptom0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary39
HP:0025142HP:0025142Constitutional symptom0CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0025142HP:0025142Constitutional symptom0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0025142HP:0025142Constitutional symptom0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0025142HP:0025142Constitutional symptom0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0025142HP:0025142Constitutional symptom0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0025142HP:0025142Constitutional symptom0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0025142HP:0025142Constitutional symptom0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B5
HP:0025142HP:0025142Constitutional symptom0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0025142HP:0025142Constitutional symptom0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0025142HP:0025142Constitutional symptom0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0025142HP:0025142Constitutional symptom0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0025142HP:0025142Constitutional symptom0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0025142HP:0025142Constitutional symptom0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0025142HP:0025142Constitutional symptom0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0025142HP:0025142Constitutional symptom0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0025142HP:0025142Constitutional symptom0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0025142HP:0025142Constitutional symptom0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0025142HP:0025142Constitutional symptom0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0025142HP:0025142Constitutional symptom0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0025142HP:0025142Constitutional symptom0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0025142HP:0025142Constitutional symptom0DDIT3 CL E G H16492726ORPHA:99967Myxoid/round cell liposarcoma
HP:0025142HP:0025142Constitutional symptom0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0025142HP:0025142Constitutional symptom0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0025142HP:0025142Constitutional symptom0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable foci172
HP:0025142HP:0025142Constitutional symptom0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0025142HP:0025142Constitutional symptom0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type9
HP:0025142HP:0025142Constitutional symptom0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0025142HP:0025142Constitutional symptom0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0025142HP:0025142Constitutional symptom0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0025142HP:0025142Constitutional symptom0DKK1 CL E G H229432891ORPHA:85193Idiopathic juvenile osteoporosis
HP:0025142HP:0025142Constitutional symptom0DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagus
HP:0025142HP:0025142Constitutional symptom0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0025142HP:0025142Constitutional symptom0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025142HP:0025142Constitutional symptom0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophy1496
HP:0025142HP:0025142Constitutional symptom0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type1496
HP:0025142HP:0025142Constitutional symptom0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0025142HP:0025142Constitutional symptom0DMGDH CL E G H2995824475ORPHA:243343Dimethylglycine dehydrogenase deficiency27
HP:0025142HP:0025142Constitutional symptom0DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0025142HP:0025142Constitutional symptom0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic rickets48
HP:0025142HP:0025142Constitutional symptom0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0025142HP:0025142Constitutional symptom0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0025142HP:0025142Constitutional symptom0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0025142HP:0025142Constitutional symptom0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0025142HP:0025142Constitutional symptom0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0025142HP:0025142Constitutional symptom0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0025142HP:0025142Constitutional symptom0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0025142HP:0025142Constitutional symptom0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0025142HP:0025142Constitutional symptom0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0025142HP:0025142Constitutional symptom0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0025142HP:0025142Constitutional symptom0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0025142HP:0025142Constitutional symptom0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0025142HP:0025142Constitutional symptom0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0025142HP:0025142Constitutional symptom0DPH5 CL E G H5161124270OMIM:620070
HP:0025142HP:0025142Constitutional symptom0DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0025142HP:0025142Constitutional symptom0DPP6 CL E G H18043010OMIM:612956VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF218
HP:0025142HP:0025142Constitutional symptom0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025142HP:0025142Constitutional symptom0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0025142HP:0025142Constitutional symptom0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0025142HP:0025142Constitutional symptom0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0025142HP:0025142Constitutional symptom0DSP CL E G H18323052OMIM:607450Arrhythmogenic right ventricular dysplasia, familial, 8747
HP:0025142HP:0025142Constitutional symptom0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0025142HP:0025142Constitutional symptom0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1163
HP:0025142HP:0025142Constitutional symptom0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0025142HP:0025142Constitutional symptom0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0025142HP:0025142Constitutional symptom0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0025142HP:0025142Constitutional symptom0ECE1 CL E G H18893146ORPHA:388Hirschsprung disease13
HP:0025142HP:0025142Constitutional symptom0EDN3 CL E G H19083178ORPHA:388Hirschsprung disease67
HP:0025142HP:0025142Constitutional symptom0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0025142HP:0025142Constitutional symptom0EDNRB CL E G H19103180ORPHA:388Hirschsprung disease55
HP:0025142HP:0025142Constitutional symptom0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0025142HP:0025142Constitutional symptom0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndrome2
HP:0025142HP:0025142Constitutional symptom0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142HP:0025142Constitutional symptom0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0025142HP:0025142Constitutional symptom0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0025142HP:0025142Constitutional symptom0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0025142HP:0025142Constitutional symptom0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0025142HP:0025142Constitutional symptom0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0025142HP:0025142Constitutional symptom0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0025142HP:0025142Constitutional symptom0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0025142HP:0025142Constitutional symptom0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0025142HP:0025142Constitutional symptom0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0025142HP:0025142Constitutional symptom0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0025142HP:0025142Constitutional symptom0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0025142HP:0025142Constitutional symptom0ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII34
HP:0025142HP:0025142Constitutional symptom0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic rickets151
HP:0025142HP:0025142Constitutional symptom0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0025142HP:0025142Constitutional symptom0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0025142HP:0025142Constitutional symptom0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0025142HP:0025142Constitutional symptom0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosis6
HP:0025142HP:0025142Constitutional symptom0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0025142HP:0025142Constitutional symptom0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0025142HP:0025142Constitutional symptom0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0025142HP:0025142Constitutional symptom0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemia43
HP:0025142HP:0025142Constitutional symptom0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0025142HP:0025142Constitutional symptom0ERBB2 CL E G H20643430ORPHA:388Hirschsprung disease77
HP:0025142HP:0025142Constitutional symptom0ERBB3 CL E G H20653431ORPHA:388Hirschsprung disease12
HP:0025142HP:0025142Constitutional symptom0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0025142HP:0025142Constitutional symptom0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0025142HP:0025142Constitutional symptom0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0025142HP:0025142Constitutional symptom0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0025142HP:0025142Constitutional symptom0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0025142HP:0025142Constitutional symptom0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0025142HP:0025142Constitutional symptom0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 622
HP:0025142HP:0025142Constitutional symptom0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0025142HP:0025142Constitutional symptom0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0025142HP:0025142Constitutional symptom0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0025142HP:0025142Constitutional symptom0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0025142HP:0025142Constitutional symptom0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0025142HP:0025142Constitutional symptom0EYA4 CL E G H20703522OMIM:605362Cardiomyopathy, dilated, 1J111
HP:0025142HP:0025142Constitutional symptom0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0025142HP:0025142Constitutional symptom0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0025142HP:0025142Constitutional symptom0F8 CL E G H21573546ORPHA:169805Moderate hemophilia A303
HP:0025142HP:0025142Constitutional symptom0F8 CL E G H21573546ORPHA:169802Severe hemophilia A303
HP:0025142HP:0025142Constitutional symptom0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0025142HP:0025142Constitutional symptom0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0025142HP:0025142Constitutional symptom0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0025142HP:0025142Constitutional symptom0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0025142HP:0025142Constitutional symptom0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0025142HP:0025142Constitutional symptom0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0025142HP:0025142Constitutional symptom0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0025142HP:0025142Constitutional symptom0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0025142HP:0025142Constitutional symptom0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0025142HP:0025142Constitutional symptom0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0025142HP:0025142Constitutional symptom0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0025142HP:0025142Constitutional symptom0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0025142HP:0025142Constitutional symptom0FGF23 CL E G H80743680ORPHA:89937Autosomal dominant hypophosphatemic rickets51
HP:0025142HP:0025142Constitutional symptom0FGF23 CL E G H80743680OMIM:193100Hypophosphatemic rickets, autosomal dominant51
HP:0025142HP:0025142Constitutional symptom0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0025142HP:0025142Constitutional symptom0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0025142HP:0025142Constitutional symptom0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0025142HP:0025142Constitutional symptom0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0025142HP:0025142Constitutional symptom0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025142HP:0025142Constitutional symptom0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0025142HP:0025142Constitutional symptom0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0025142HP:0025142Constitutional symptom0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0025142HP:0025142Constitutional symptom0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0025142HP:0025142Constitutional symptom0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0025142HP:0025142Constitutional symptom0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0025142HP:0025142Constitutional symptom0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0025142HP:0025142Constitutional symptom0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0025142HP:0025142Constitutional symptom0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency18
HP:0025142HP:0025142Constitutional symptom0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0025142HP:0025142Constitutional symptom0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0025142HP:0025142Constitutional symptom0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0025142HP:0025142Constitutional symptom0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0025142HP:0025142Constitutional symptom0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0025142HP:0025142Constitutional symptom0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0025142HP:0025142Constitutional symptom0FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuria55
HP:0025142HP:0025142Constitutional symptom0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0025142HP:0025142Constitutional symptom0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0025142HP:0025142Constitutional symptom0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0025142HP:0025142Constitutional symptom0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0025142HP:0025142Constitutional symptom0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0025142HP:0025142Constitutional symptom0FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinoma9
HP:0025142HP:0025142Constitutional symptom0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0025142HP:0025142Constitutional symptom0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0025142HP:0025142Constitutional symptom0FRMD5 CL E G H8497828214OMIM:620094
HP:0025142HP:0025142Constitutional symptom0FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndrome50
HP:0025142HP:0025142Constitutional symptom0FSHR CL E G H24923969OMIM:608115Ovarian hyperstimulation syndrome50
HP:0025142HP:0025142Constitutional symptom0FTL CL E G H25123999ORPHA:254704Genetic hyperferritinemia without iron overload33
HP:0025142HP:0025142Constitutional symptom0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0025142HP:0025142Constitutional symptom0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0025142HP:0025142Constitutional symptom0FUS CL E G H25214010ORPHA:99967Myxoid/round cell liposarcoma105
HP:0025142HP:0025142Constitutional symptom0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0025142HP:0025142Constitutional symptom0FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to3
HP:0025142HP:0025142Constitutional symptom0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0025142HP:0025142Constitutional symptom0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0025142HP:0025142Constitutional symptom0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0025142HP:0025142Constitutional symptom0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0025142HP:0025142Constitutional symptom0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0025142HP:0025142Constitutional symptom0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0025142HP:0025142Constitutional symptom0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025142HP:0025142Constitutional symptom0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0025142HP:0025142Constitutional symptom0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0025142HP:0025142Constitutional symptom0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0025142HP:0025142Constitutional symptom0GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndrome137
HP:0025142HP:0025142Constitutional symptom0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum type87
HP:0025142HP:0025142Constitutional symptom0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum type37
HP:0025142HP:0025142Constitutional symptom0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndrome86
HP:0025142HP:0025142Constitutional symptom0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1
HP:0025142HP:0025142Constitutional symptom0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3
HP:0025142HP:0025142Constitutional symptom0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0025142HP:0025142Constitutional symptom0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0025142HP:0025142Constitutional symptom0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0025142HP:0025142Constitutional symptom0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0025142HP:0025142Constitutional symptom0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body disease86
HP:0025142HP:0025142Constitutional symptom0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0025142HP:0025142Constitutional symptom0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0025142HP:0025142Constitutional symptom0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0025142HP:0025142Constitutional symptom0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0025142HP:0025142Constitutional symptom0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0025142HP:0025142Constitutional symptom0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0025142HP:0025142Constitutional symptom0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0025142HP:0025142Constitutional symptom0GDNF CL E G H26684232ORPHA:388Hirschsprung disease59
HP:0025142HP:0025142Constitutional symptom0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0025142HP:0025142Constitutional symptom0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0025142HP:0025142Constitutional symptom0GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiency37
HP:0025142HP:0025142Constitutional symptom0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0025142HP:0025142Constitutional symptom0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025142HP:0025142Constitutional symptom0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025142HP:0025142Constitutional symptom0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0025142HP:0025142Constitutional symptom0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0025142HP:0025142Constitutional symptom0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0025142HP:0025142Constitutional symptom0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0025142HP:0025142Constitutional symptom0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0025142HP:0025142Constitutional symptom0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0025142HP:0025142Constitutional symptom0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0025142HP:0025142Constitutional symptom0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0025142HP:0025142Constitutional symptom0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1434
HP:0025142HP:0025142Constitutional symptom0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0025142HP:0025142Constitutional symptom0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0025142HP:0025142Constitutional symptom0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0025142HP:0025142Constitutional symptom0GNAI2 CL E G H27714385OMIM:192605Ventricular tachycardia, familial4
HP:0025142HP:0025142Constitutional symptom0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:57782Mazabraud syndrome101
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasia101
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0025142HP:0025142Constitutional symptom0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0025142HP:0025142Constitutional symptom0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025142HP:0025142Constitutional symptom0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0025142HP:0025142Constitutional symptom0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma57
HP:0025142HP:0025142Constitutional symptom0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0025142HP:0025142Constitutional symptom0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0025142HP:0025142Constitutional symptom0GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0025142HP:0025142Constitutional symptom0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0025142HP:0025142Constitutional symptom0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0025142HP:0025142Constitutional symptom0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0025142HP:0025142Constitutional symptom0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0025142HP:0025142Constitutional symptom0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0025142HP:0025142Constitutional symptom0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0025142HP:0025142Constitutional symptom0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0025142HP:0025142Constitutional symptom0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0025142HP:0025142Constitutional symptom0GUCY2C CL E G H29844688OMIM:614616Diarrhea 612
HP:0025142HP:0025142Constitutional symptom0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0025142HP:0025142Constitutional symptom0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosis5
HP:0025142HP:0025142Constitutional symptom0GYS1 CL E G H29974706OMIM:611556Glycogen storage disease 0, muscle52
HP:0025142HP:0025142Constitutional symptom0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0025142HP:0025142Constitutional symptom0HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinoma58
HP:0025142HP:0025142Constitutional symptom0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0025142HP:0025142Constitutional symptom0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0025142HP:0025142Constitutional symptom0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency99
HP:0025142HP:0025142Constitutional symptom0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0025142HP:0025142Constitutional symptom0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0025142HP:0025142Constitutional symptom0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0025142HP:0025142Constitutional symptom0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0025142HP:0025142Constitutional symptom0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0025142HP:0025142Constitutional symptom0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0025142HP:0025142Constitutional symptom0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0025142HP:0025142Constitutional symptom0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0025142HP:0025142Constitutional symptom0HBB CL E G H30434827ORPHA:232Sickle cell anemia580
HP:0025142HP:0025142Constitutional symptom0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0025142HP:0025142Constitutional symptom0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0025142HP:0025142Constitutional symptom0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndrome
HP:0025142HP:0025142Constitutional symptom0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142HP:0025142Constitutional symptom0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0025142HP:0025142Constitutional symptom0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0025142HP:0025142Constitutional symptom0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0025142HP:0025142Constitutional symptom0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0025142HP:0025142Constitutional symptom0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0025142HP:0025142Constitutional symptom0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0025142HP:0025142Constitutional symptom0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 138
HP:0025142HP:0025142Constitutional symptom0HFE CL E G H30774886OMIM:176200Porphyria variegata38
HP:0025142HP:0025142Constitutional symptom0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0025142HP:0025142Constitutional symptom0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0025142HP:0025142Constitutional symptom0HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0025142HP:0025142Constitutional symptom0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0025142HP:0025142Constitutional symptom0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0025142HP:0025142Constitutional symptom0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0025142HP:0025142Constitutional symptom0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0025142HP:0025142Constitutional symptom0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium disease1
HP:0025142HP:0025142Constitutional symptom0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0025142HP:0025142Constitutional symptom0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0025142HP:0025142Constitutional symptom0HLA-DQA1 CL E G H31174942ORPHA:930Idiopathic achalasia
HP:0025142HP:0025142Constitutional symptom0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0025142HP:0025142Constitutional symptom0HLA-DQB1 CL E G H31194944ORPHA:930Idiopathic achalasia
HP:0025142HP:0025142Constitutional symptom0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosis2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0025142HP:0025142Constitutional symptom0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0025142HP:0025142Constitutional symptom0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0025142HP:0025142Constitutional symptom0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0025142HP:0025142Constitutional symptom0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0025142HP:0025142Constitutional symptom0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0025142HP:0025142Constitutional symptom0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0025142HP:0025142Constitutional symptom0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0025142HP:0025142Constitutional symptom0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0025142HP:0025142Constitutional symptom0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0025142HP:0025142Constitutional symptom0HOGA1 CL E G H11281725155ORPHA:93600Primary hyperoxaluria type 383
HP:0025142HP:0025142Constitutional symptom0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025142HP:0025142Constitutional symptom0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathy55
HP:0025142HP:0025142Constitutional symptom0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0025142HP:0025142Constitutional symptom0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0025142HP:0025142Constitutional symptom0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0025142HP:0025142Constitutional symptom0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndrome9
HP:0025142HP:0025142Constitutional symptom0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0025142HP:0025142Constitutional symptom0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0025142HP:0025142Constitutional symptom0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0025142HP:0025142Constitutional symptom0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 1346
HP:0025142HP:0025142Constitutional symptom0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant46
HP:0025142HP:0025142Constitutional symptom0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0025142HP:0025142Constitutional symptom0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0025142HP:0025142Constitutional symptom0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0025142HP:0025142Constitutional symptom0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0025142HP:0025142Constitutional symptom0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0025142HP:0025142Constitutional symptom0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0025142HP:0025142Constitutional symptom0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0025142HP:0025142Constitutional symptom0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0025142HP:0025142Constitutional symptom0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0025142HP:0025142Constitutional symptom0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0025142HP:0025142Constitutional symptom0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0025142HP:0025142Constitutional symptom0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0025142HP:0025142Constitutional symptom0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0025142HP:0025142Constitutional symptom0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII
HP:0025142HP:0025142Constitutional symptom0IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0025142HP:0025142Constitutional symptom0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0025142HP:0025142Constitutional symptom0IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0025142