Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal hair quantity (HP:0011362)help
..Starting node
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Hypertrichosis (HP:0000998)help
Term ID: 998
Name: Hypertrichosis
Synonym: Excessive hair growth; Increased hair growth on body
Definition: Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Comments:
Reference: HP:0000998
Genes and Diseases:
 
       Child Nodes:
........expandFacial hypertrichosis (HP:0002219) help
................... HP:0000664 Synophrys
........expandSacral hypertrichosis (HP:0004532) help
........expandAnterior cervical hypertrichosis (HP:0004535) help
........expandCongenital, generalized hypertrichosis (HP:0004540) help
........expandGeneralized hypertrichosis (HP:0004554) help
........expandElbow hypertrichosis (HP:0004780) help
........expandLumbar hypertrichosis (HP:0011913) help
........expandThoracic hypertrichosis (HP:0011914) help

 Sister Nodes: 
..expandAbsent hair (HP:0002298) help
..expandAlopecia (HP:0001596) help
..expandAnagen effluvium (HP:0025469) help
..expandHirsutism (HP:0001007) help
..expandobsolete Hypotrichosis (HP:0001006) help
..expandTelogen effluvium (HP:0025470) 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:0000998HP:0000998Hypertrichosis0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome1
HP:0000998HP:0000998Hypertrichosis0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0000998HP:0000998Hypertrichosis0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0000998HP:0000998Hypertrichosis0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000998HP:0000998Hypertrichosis0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000998HP:0000998Hypertrichosis0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000998HP:0000998Hypertrichosis0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000998HP:0000998Hypertrichosis0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent85
HP:0000998HP:0000998Hypertrichosis0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000998HP:0000998Hypertrichosis0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000998HP:0000998Hypertrichosis0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000998HP:0000998Hypertrichosis0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000998HP:0000998Hypertrichosis0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000998HP:0000998Hypertrichosis0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000998HP:0000998Hypertrichosis0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent88
HP:0000998HP:0000998Hypertrichosis0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent219
HP:0000998HP:0000998Hypertrichosis0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000998HP:0000998Hypertrichosis0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent25
HP:0000998HP:0000998Hypertrichosis0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000998HP:0000998Hypertrichosis0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0000998HP:0000998Hypertrichosis0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000998HP:0000998Hypertrichosis0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000998HP:0000998Hypertrichosis0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000998HP:0000998Hypertrichosis0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000998HP:0000998Hypertrichosis0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000998HP:0000998Hypertrichosis0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000998HP:0000998Hypertrichosis0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000998HP:0000998Hypertrichosis0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000998HP:0000998Hypertrichosis0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000998HP:0000998Hypertrichosis0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000998HP:0000998Hypertrichosis0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000998HP:0000998Hypertrichosis0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000998HP:0000998Hypertrichosis0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000998HP:0000998Hypertrichosis0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0000998HP:0000998Hypertrichosis0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000998HP:0000998Hypertrichosis0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000998HP:0000998Hypertrichosis0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent105
HP:0000998HP:0000998Hypertrichosis0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent11
HP:0000998HP:0000998Hypertrichosis0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent48
HP:0000998HP:0000998Hypertrichosis0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000998HP:0000998Hypertrichosis0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000998HP:0000998Hypertrichosis0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000998HP:0000998Hypertrichosis0CDC42BPB CL E G H95781738OMIM:619841
HP:0000998HP:0000998Hypertrichosis0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000998HP:0000998Hypertrichosis0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000998HP:0000998Hypertrichosis0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000998HP:0000998Hypertrichosis0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000998HP:0000998Hypertrichosis0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0000998HP:0000998Hypertrichosis0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0000998HP:0000998Hypertrichosis0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000998HP:0000998Hypertrichosis0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000998HP:0000998Hypertrichosis0CHD5 CL E G H2603816816OMIM:619873
HP:0000998HP:0000998Hypertrichosis0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8HP:0040283 - Occasional19
HP:0000998HP:0000998Hypertrichosis0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000998HP:0000998Hypertrichosis0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000998HP:0000998Hypertrichosis0CKAP2L CL E G H15046826877OMIM:272440Filippi syndromeHP:0040283 - Occasional7
HP:0000998HP:0000998Hypertrichosis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000998HP:0000998Hypertrichosis0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0000998HP:0000998Hypertrichosis0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000998HP:0000998Hypertrichosis0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000998HP:0000998Hypertrichosis0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000998HP:0000998Hypertrichosis0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000998HP:0000998Hypertrichosis0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000998HP:0000998Hypertrichosis0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0000998HP:0000998Hypertrichosis0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0000998HP:0000998Hypertrichosis0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0000998HP:0000998Hypertrichosis0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0000998HP:0000998Hypertrichosis0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000998HP:0000998Hypertrichosis0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000998HP:0000998Hypertrichosis0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000998HP:0000998Hypertrichosis0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0000998HP:0000998Hypertrichosis0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0000998HP:0000998Hypertrichosis0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000998HP:0000998Hypertrichosis0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000998HP:0000998Hypertrichosis0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000998HP:0000998Hypertrichosis0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000998HP:0000998Hypertrichosis0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0000998HP:0000998Hypertrichosis0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0000998HP:0000998Hypertrichosis0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000998HP:0000998Hypertrichosis0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000998HP:0000998Hypertrichosis0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000998HP:0000998Hypertrichosis0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000998HP:0000998Hypertrichosis0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0000998HP:0000998Hypertrichosis0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0000998HP:0000998Hypertrichosis0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000998HP:0000998Hypertrichosis0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000998HP:0000998Hypertrichosis0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0000998HP:0000998Hypertrichosis0FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephaly172
HP:0000998HP:0000998Hypertrichosis0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000998HP:0000998Hypertrichosis0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0000998HP:0000998Hypertrichosis0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000998HP:0000998Hypertrichosis0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent
HP:0000998HP:0000998Hypertrichosis0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000998HP:0000998Hypertrichosis0FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephaly198
HP:0000998HP:0000998Hypertrichosis0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0000998HP:0000998Hypertrichosis0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000998HP:0000998Hypertrichosis0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000998HP:0000998Hypertrichosis0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 2.12
HP:0000998HP:0000998Hypertrichosis0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0000998HP:0000998Hypertrichosis0GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000998HP:0000998Hypertrichosis0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000998HP:0000998Hypertrichosis0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000998HP:0000998Hypertrichosis0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000998HP:0000998Hypertrichosis0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000998HP:0000998Hypertrichosis0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000998HP:0000998Hypertrichosis0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000998HP:0000998Hypertrichosis0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000998HP:0000998Hypertrichosis0HEATR3 CL E G H5502726087OMIM:620072
HP:0000998HP:0000998Hypertrichosis0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda38
HP:0000998HP:0000998Hypertrichosis0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0000998HP:0000998Hypertrichosis0HID1 CL E G H28398715736OMIM:619983
HP:0000998HP:0000998Hypertrichosis0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000998HP:0000998Hypertrichosis0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0000998HP:0000998Hypertrichosis0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0000998HP:0000998Hypertrichosis0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000998HP:0000998Hypertrichosis0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000998HP:0000998Hypertrichosis0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000998HP:0000998Hypertrichosis0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000998HP:0000998Hypertrichosis0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000998HP:0000998Hypertrichosis0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000998HP:0000998Hypertrichosis0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040281 - Very frequent229
HP:0000998HP:0000998Hypertrichosis0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000998HP:0000998Hypertrichosis0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0000998HP:0000998Hypertrichosis0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000998HP:0000998Hypertrichosis0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000998HP:0000998Hypertrichosis0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000998HP:0000998Hypertrichosis0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000998HP:0000998Hypertrichosis0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000998HP:0000998Hypertrichosis0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000998HP:0000998Hypertrichosis0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000998HP:0000998Hypertrichosis0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000998HP:0000998Hypertrichosis0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000998HP:0000998Hypertrichosis0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000998HP:0000998Hypertrichosis0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000998HP:0000998Hypertrichosis0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000998HP:0000998Hypertrichosis0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0000998HP:0000998Hypertrichosis0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0000998HP:0000998Hypertrichosis0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000998HP:0000998Hypertrichosis0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0000998HP:0000998Hypertrichosis0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0000998HP:0000998Hypertrichosis0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0000998HP:0000998Hypertrichosis0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000998HP:0000998Hypertrichosis0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticularHP:0040283 - Occasional45
HP:0000998HP:0000998Hypertrichosis0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0000998HP:0000998Hypertrichosis0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000998HP:0000998Hypertrichosis0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:0000998HP:0000998Hypertrichosis0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000998HP:0000998Hypertrichosis0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000998HP:0000998Hypertrichosis0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000998HP:0000998Hypertrichosis0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000998HP:0000998Hypertrichosis0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000998HP:0000998Hypertrichosis0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000998HP:0000998Hypertrichosis0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0000998HP:0000998Hypertrichosis0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000998HP:0000998Hypertrichosis0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000998HP:0000998Hypertrichosis0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0000998HP:0000998Hypertrichosis0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndrome91
HP:0000998HP:0000998Hypertrichosis0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000998HP:0000998Hypertrichosis0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0000998HP:0000998Hypertrichosis0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0000998HP:0000998Hypertrichosis0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000998HP:0000998Hypertrichosis0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000998HP:0000998Hypertrichosis0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000998HP:0000998Hypertrichosis0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0000998HP:0000998Hypertrichosis0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000998HP:0000998Hypertrichosis0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000998HP:0000998Hypertrichosis0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000998HP:0000998Hypertrichosis0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000998HP:0000998Hypertrichosis0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000998HP:0000998Hypertrichosis0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040284 - Very rare31
HP:0000998HP:0000998Hypertrichosis0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000998HP:0000998Hypertrichosis0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000998HP:0000998Hypertrichosis0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040284 - Very rare
HP:0000998HP:0000998Hypertrichosis0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000998HP:0000998Hypertrichosis0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040284 - Very rare65
HP:0000998HP:0000998Hypertrichosis0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000998HP:0000998Hypertrichosis0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000998HP:0000998Hypertrichosis0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000998HP:0000998Hypertrichosis0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000998HP:0000998Hypertrichosis0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000998HP:0000998Hypertrichosis0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000998HP:0000998Hypertrichosis0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000998HP:0000998Hypertrichosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000998HP:0000998Hypertrichosis0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0000998HP:0000998Hypertrichosis0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0000998HP:0000998Hypertrichosis0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000998HP:0000998Hypertrichosis0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000998HP:0000998Hypertrichosis0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000998HP:0000998Hypertrichosis0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000998HP:0000998Hypertrichosis0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0000998HP:0000998Hypertrichosis0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000998HP:0000998Hypertrichosis0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0000998HP:0000998Hypertrichosis0NUDT2 CL E G H3188049OMIM:619844
HP:0000998HP:0000998Hypertrichosis0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0000998HP:0000998Hypertrichosis0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000998HP:0000998Hypertrichosis0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000998HP:0000998Hypertrichosis0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000998HP:0000998Hypertrichosis0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0000998HP:0000998Hypertrichosis0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0000998HP:0000998Hypertrichosis0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0000998HP:0000998Hypertrichosis0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000998HP:0000998Hypertrichosis0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000998HP:0000998Hypertrichosis0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000998HP:0000998Hypertrichosis0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000998HP:0000998Hypertrichosis0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0000998HP:0000998Hypertrichosis0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0000998HP:0000998Hypertrichosis0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000998HP:0000998Hypertrichosis0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000998HP:0000998Hypertrichosis0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000998HP:0000998Hypertrichosis0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000998HP:0000998Hypertrichosis0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000998HP:0000998Hypertrichosis0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000998HP:0000998Hypertrichosis0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent42
HP:0000998HP:0000998Hypertrichosis0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0000998HP:0000998Hypertrichosis0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0000998HP:0000998Hypertrichosis0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0000998HP:0000998Hypertrichosis0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000998HP:0000998Hypertrichosis0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000998HP:0000998Hypertrichosis0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000998HP:0000998Hypertrichosis0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000998HP:0000998Hypertrichosis0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000998HP:0000998Hypertrichosis0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000998HP:0000998Hypertrichosis0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000998HP:0000998Hypertrichosis0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000998HP:0000998Hypertrichosis0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000998HP:0000998Hypertrichosis0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000998HP:0000998Hypertrichosis0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000998HP:0000998Hypertrichosis0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000998HP:0000998Hypertrichosis0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000998HP:0000998Hypertrichosis0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000998HP:0000998Hypertrichosis0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000998HP:0000998Hypertrichosis0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0000998HP:0000998Hypertrichosis0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040284 - Very rare40
HP:0000998HP:0000998Hypertrichosis0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0000998HP:0000998Hypertrichosis0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000998HP:0000998Hypertrichosis0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000998HP:0000998Hypertrichosis0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0000998HP:0000998Hypertrichosis0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000998HP:0000998Hypertrichosis0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA97
HP:0000998HP:0000998Hypertrichosis0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0000998HP:0000998Hypertrichosis0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0000998HP:0000998Hypertrichosis0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000998HP:0000998Hypertrichosis0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040282 - Frequent68
HP:0000998HP:0000998Hypertrichosis0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000998HP:0000998Hypertrichosis0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000998HP:0000998Hypertrichosis0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent617
HP:0000998HP:0000998Hypertrichosis0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0000998HP:0000998Hypertrichosis0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent87
HP:0000998HP:0000998Hypertrichosis0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000998HP:0000998Hypertrichosis0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent1
HP:0000998HP:0000998Hypertrichosis0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000998HP:0000998Hypertrichosis0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent47
HP:0000998HP:0000998Hypertrichosis0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000998HP:0000998Hypertrichosis0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000998HP:0000998Hypertrichosis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000998HP:0000998Hypertrichosis0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000998HP:0000998Hypertrichosis0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000998HP:0000998Hypertrichosis0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000998HP:0000998Hypertrichosis0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000998HP:0000998Hypertrichosis0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000998HP:0000998Hypertrichosis0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000998HP:0000998Hypertrichosis0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0000998HP:0000998Hypertrichosis0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0000998HP:0000998Hypertrichosis0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20HP:0040283 - Occasional14
HP:0000998HP:0000998Hypertrichosis0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndrome61
HP:0000998HP:0000998Hypertrichosis0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent14
HP:0000998HP:0000998Hypertrichosis0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000998HP:0000998Hypertrichosis0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000998HP:0000998Hypertrichosis0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0000998HP:0000998Hypertrichosis0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000998HP:0000998Hypertrichosis0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000998HP:0000998Hypertrichosis0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000998HP:0000998Hypertrichosis0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000998HP:0000998Hypertrichosis0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000998HP:0000998Hypertrichosis0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0000998HP:0000998Hypertrichosis0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0000998HP:0000998Hypertrichosis0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040284 - Very rare73
HP:0000998HP:0000998Hypertrichosis0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0000998HP:0000998Hypertrichosis0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000998HP:0000998Hypertrichosis0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0000998HP:0000998Hypertrichosis0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000998HP:0000998Hypertrichosis0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000998HP:0000998Hypertrichosis0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0000998HP:0000998Hypertrichosis0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0000998HP:0000998Hypertrichosis0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000998HP:0000998Hypertrichosis0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000998HP:0000998Hypertrichosis0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000998HP:0000998Hypertrichosis0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0000998HP:0000998Hypertrichosis0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000998HP:0000998Hypertrichosis0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000998HP:0000998Hypertrichosis0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0000998HP:0000998Hypertrichosis0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000998HP:0000998Hypertrichosis0TMEM147 CL E G H1043030414OMIM:620075
HP:0000998HP:0000998Hypertrichosis0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000998HP:0000998Hypertrichosis0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000998HP:0000998Hypertrichosis0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0000998HP:0000998Hypertrichosis0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9.2
HP:0000998HP:0000998Hypertrichosis0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000998HP:0000998Hypertrichosis0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000998HP:0000998Hypertrichosis0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000998HP:0000998Hypertrichosis0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000998HP:0000998Hypertrichosis0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000998HP:0000998Hypertrichosis0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000998HP:0000998Hypertrichosis0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0000998HP:0000998Hypertrichosis0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0000998HP:0000998Hypertrichosis0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000998HP:0000998Hypertrichosis0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0000998HP:0000998Hypertrichosis0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0000998HP:0000998Hypertrichosis0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000998HP:0000998Hypertrichosis0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000998HP:0000998Hypertrichosis0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000998HP:0000998Hypertrichosis0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0000998HP:0000998Hypertrichosis0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000998HP:0000998Hypertrichosis0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000998HP:0000998Hypertrichosis0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000998HP:0000998Hypertrichosis0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0000998HP:0000998Hypertrichosis0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0000998HP:0000998Hypertrichosis0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda31
HP:0000998HP:0000998Hypertrichosis0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0000998HP:0000998Hypertrichosis0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000998HP:0000998Hypertrichosis0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000998HP:0000998Hypertrichosis0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000998HP:0000998Hypertrichosis0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0000998HP:0000998Hypertrichosis0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000998HP:0000998Hypertrichosis0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0000998HP:0000998Hypertrichosis0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000998HP:0000998Hypertrichosis0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000998HP:0000998Hypertrichosis0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000998HP:0000998Hypertrichosis0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000998HP:0000998Hypertrichosis0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0000998HP:0000998Hypertrichosis0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000998HP:0000998Hypertrichosis0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0000998HP:0000998Hypertrichosis0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0000998HP:0000998Hypertrichosis0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000998HP:0000998Hypertrichosis0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000998HP:0000998Hypertrichosis0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000998HP:0000998Hypertrichosis0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000998HP:0000998Hypertrichosis0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000998HP:0000998Hypertrichosis0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000998HP:0000998Hypertrichosis0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0000998HP:0000998Hypertrichosis0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0000998HP:0004780Elbow hypertrichosis1 CL E G H
HP:0000998HP:0004535Anterior cervical hypertrichosis1 CL E G H
HP:0000998HP:0002219Facial hypertrichosis1ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome1
HP:0000998HP:0004540Congenital, generalized hypertrichosis1ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0000998HP:0004540Congenital, generalized hypertrichosis1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000998HP:0002219Facial hypertrichosis1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000998HP:0002219Facial hypertrichosis1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000998HP:0002219Facial hypertrichosis1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000998HP:0002219Facial hypertrichosis1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000998HP:0002219Facial hypertrichosis1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000998HP:0002219Facial hypertrichosis1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000998HP:0002219Facial hypertrichosis1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000998HP:0002219Facial hypertrichosis1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000998HP:0002219Facial hypertrichosis1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000998HP:0002219Facial hypertrichosis1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000998HP:0002219Facial hypertrichosis1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000998HP:0002219Facial hypertrichosis1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0000998HP:0002219Facial hypertrichosis1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000998HP:0002219Facial hypertrichosis1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000998HP:0002219Facial hypertrichosis1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000998HP:0002219Facial hypertrichosis1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000998HP:0002219Facial hypertrichosis1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000998HP:0002219Facial hypertrichosis1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000998HP:0004554Generalized hypertrichosis1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0000998HP:0002219Facial hypertrichosis1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000998HP:0002219Facial hypertrichosis1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000998HP:0002219Facial hypertrichosis1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000998HP:0002219Facial hypertrichosis1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000998HP:0002219Facial hypertrichosis1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0000998HP:0002219Facial hypertrichosis1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000998HP:0002219Facial hypertrichosis1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000998HP:0002219Facial hypertrichosis1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000998HP:0002219Facial hypertrichosis1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000998HP:0002219Facial hypertrichosis1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000998HP:0002219Facial hypertrichosis1CDC42BPB CL E G H95781738OMIM:619841
HP:0000998HP:0002219Facial hypertrichosis1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000998HP:0002219Facial hypertrichosis1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000998HP:0002219Facial hypertrichosis1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000998HP:0002219Facial hypertrichosis1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000998HP:0002219Facial hypertrichosis1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0000998HP:0002219Facial hypertrichosis1CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000998HP:0002219Facial hypertrichosis1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000998HP:0002219Facial hypertrichosis1CHD5 CL E G H2603816816OMIM:619873
HP:0000998HP:0002219Facial hypertrichosis1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000998HP:0002219Facial hypertrichosis1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000998HP:0002219Facial hypertrichosis1CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000998HP:0002219Facial hypertrichosis1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000998HP:0002219Facial hypertrichosis1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000998HP:0002219Facial hypertrichosis1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000998HP:0002219Facial hypertrichosis1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000998HP:0002219Facial hypertrichosis1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0000998HP:0002219Facial hypertrichosis1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0000998HP:0002219Facial hypertrichosis1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0000998HP:0002219Facial hypertrichosis1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000998HP:0002219Facial hypertrichosis1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000998HP:0002219Facial hypertrichosis1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000998HP:0002219Facial hypertrichosis1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0000998HP:0002219Facial hypertrichosis1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0000998HP:0002219Facial hypertrichosis1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000998HP:0002219Facial hypertrichosis1EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0000998HP:0002219Facial hypertrichosis1EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0000998HP:0002219Facial hypertrichosis1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000998HP:0002219Facial hypertrichosis1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000998HP:0002219Facial hypertrichosis1EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000998HP:0002219Facial hypertrichosis1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000998HP:0002219Facial hypertrichosis1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0000998HP:0002219Facial hypertrichosis1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0000998HP:0002219Facial hypertrichosis1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000998HP:0002219Facial hypertrichosis1FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000998HP:0002219Facial hypertrichosis1FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0000998HP:0002219Facial hypertrichosis1FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephaly172
HP:0000998HP:0002219Facial hypertrichosis1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000998HP:0002219Facial hypertrichosis1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0000998HP:0002219Facial hypertrichosis1FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000998HP:0002219Facial hypertrichosis1FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephaly198
HP:0000998HP:0002219Facial hypertrichosis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0000998HP:0002219Facial hypertrichosis1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000998HP:0002219Facial hypertrichosis1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000998HP:0002219Facial hypertrichosis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000998HP:0011914Thoracic hypertrichosis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000998HP:0002219Facial hypertrichosis1GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000998HP:0002219Facial hypertrichosis1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000998HP:0002219Facial hypertrichosis1GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000998HP:0002219Facial hypertrichosis1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000998HP:0002219Facial hypertrichosis1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000998HP:0002219Facial hypertrichosis1HEATR3 CL E G H5502726087OMIM:620072
HP:0000998HP:0002219Facial hypertrichosis1HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0000998HP:0002219Facial hypertrichosis1HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0000998HP:0002219Facial hypertrichosis1HID1 CL E G H28398715736OMIM:619983
HP:0000998HP:0002219Facial hypertrichosis1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000998HP:0002219Facial hypertrichosis1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0000998HP:0002219Facial hypertrichosis1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0000998HP:0002219Facial hypertrichosis1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000998HP:0002219Facial hypertrichosis1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000998HP:0002219Facial hypertrichosis1IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000998HP:0002219Facial hypertrichosis1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0000998HP:0002219Facial hypertrichosis1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000998HP:0002219Facial hypertrichosis1KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000998HP:0004554Generalized hypertrichosis1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0000998HP:0002219Facial hypertrichosis1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000998HP:0002219Facial hypertrichosis1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000998HP:0002219Facial hypertrichosis1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000998HP:0002219Facial hypertrichosis1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000998HP:0004554Generalized hypertrichosis1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0000998HP:0002219Facial hypertrichosis1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000998HP:0002219Facial hypertrichosis1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000998HP:0002219Facial hypertrichosis1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000998HP:0002219Facial hypertrichosis1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000998HP:0002219Facial hypertrichosis1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000998HP:0002219Facial hypertrichosis1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0000998HP:0002219Facial hypertrichosis1KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0000998HP:0002219Facial hypertrichosis1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000998HP:0002219Facial hypertrichosis1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0000998HP:0004540Congenital, generalized hypertrichosis1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000998HP:0002219Facial hypertrichosis1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0000998HP:0002219Facial hypertrichosis1KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0000998HP:0002219Facial hypertrichosis1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0000998HP:0002219Facial hypertrichosis1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000998HP:0002219Facial hypertrichosis1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000998HP:0002219Facial hypertrichosis1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000998HP:0002219Facial hypertrichosis1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000998HP:0002219Facial hypertrichosis1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0000998HP:0002219Facial hypertrichosis1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000998HP:0002219Facial hypertrichosis1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000998HP:0002219Facial hypertrichosis1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0000998HP:0002219Facial hypertrichosis1MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndrome91
HP:0000998HP:0002219Facial hypertrichosis1NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0000998HP:0002219Facial hypertrichosis1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0000998HP:0002219Facial hypertrichosis1NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000998HP:0002219Facial hypertrichosis1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000998HP:0004554Generalized hypertrichosis1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0000998HP:0004554Generalized hypertrichosis1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0000998HP:0002219Facial hypertrichosis1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000998HP:0002219Facial hypertrichosis1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000998HP:0002219Facial hypertrichosis1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000998HP:0002219Facial hypertrichosis1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000998HP:0002219Facial hypertrichosis1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0000998HP:0002219Facial hypertrichosis1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000998HP:0002219Facial hypertrichosis1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0000998HP:0002219Facial hypertrichosis1NUDT2 CL E G H3188049OMIM:619844
HP:0000998HP:0002219Facial hypertrichosis1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000998HP:0002219Facial hypertrichosis1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000998HP:0002219Facial hypertrichosis1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000998HP:0002219Facial hypertrichosis1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0000998HP:0002219Facial hypertrichosis1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0000998HP:0002219Facial hypertrichosis1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0000998HP:0002219Facial hypertrichosis1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000998HP:0002219Facial hypertrichosis1PCDHGC4 CL E G H560988717OMIM:619880
HP:0000998HP:0002219Facial hypertrichosis1PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0000998HP:0002219Facial hypertrichosis1PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0000998HP:0002219Facial hypertrichosis1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000998HP:0002219Facial hypertrichosis1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000998HP:0002219Facial hypertrichosis1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000998HP:0002219Facial hypertrichosis1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000998HP:0002219Facial hypertrichosis1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0000998HP:0002219Facial hypertrichosis1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000998HP:0002219Facial hypertrichosis1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000998HP:0002219Facial hypertrichosis1PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000998HP:0002219Facial hypertrichosis1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000998HP:0002219Facial hypertrichosis1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000998HP:0002219Facial hypertrichosis1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000998HP:0002219Facial hypertrichosis1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000998HP:0002219Facial hypertrichosis1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000998HP:0002219Facial hypertrichosis1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000998HP:0002219Facial hypertrichosis1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000998HP:0002219Facial hypertrichosis1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000998HP:0002219Facial hypertrichosis1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0000998HP:0002219Facial hypertrichosis1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000998HP:0004554Generalized hypertrichosis1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000998HP:0002219Facial hypertrichosis1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000998HP:0002219Facial hypertrichosis1SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA97
HP:0000998HP:0002219Facial hypertrichosis1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0000998HP:0002219Facial hypertrichosis1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000998HP:0002219Facial hypertrichosis1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000998HP:0002219Facial hypertrichosis1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000998HP:0002219Facial hypertrichosis1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000998HP:0002219Facial hypertrichosis1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000998HP:0002219Facial hypertrichosis1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000998HP:0002219Facial hypertrichosis1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000998HP:0002219Facial hypertrichosis1SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000998HP:0011913Lumbar hypertrichosis1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000998HP:0002219Facial hypertrichosis1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000998HP:0002219Facial hypertrichosis1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000998HP:0002219Facial hypertrichosis1SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0000998HP:0002219Facial hypertrichosis1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000998HP:0002219Facial hypertrichosis1SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndrome61
HP:0000998HP:0004532Sacral hypertrichosis1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0000998HP:0002219Facial hypertrichosis1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000998HP:0002219Facial hypertrichosis1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000998HP:0002219Facial hypertrichosis1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000998HP:0004554Generalized hypertrichosis1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000998HP:0002219Facial hypertrichosis1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0000998HP:0002219Facial hypertrichosis1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000998HP:0002219Facial hypertrichosis1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000998HP:0002219Facial hypertrichosis1TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0000998HP:0002219Facial hypertrichosis1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0000998HP:0002219Facial hypertrichosis1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000998HP:0002219Facial hypertrichosis1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000998HP:0002219Facial hypertrichosis1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000998HP:0002219Facial hypertrichosis1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000998HP:0002219Facial hypertrichosis1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0000998HP:0002219Facial hypertrichosis1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000998HP:0002219Facial hypertrichosis1TMEM147 CL E G H1043030414OMIM:620075
HP:0000998HP:0002219Facial hypertrichosis1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000998HP:0002219Facial hypertrichosis1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000998HP:0002219Facial hypertrichosis1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000998HP:0002219Facial hypertrichosis1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000998HP:0002219Facial hypertrichosis1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000998HP:0002219Facial hypertrichosis1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000998HP:0002219Facial hypertrichosis1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000998HP:0002219Facial hypertrichosis1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000998HP:0002219Facial hypertrichosis1TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0000998HP:0002219Facial hypertrichosis1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0000998HP:0002219Facial hypertrichosis1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0000998HP:0002219Facial hypertrichosis1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0000998HP:0002219Facial hypertrichosis1TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000998HP:0002219Facial hypertrichosis1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000998HP:0002219Facial hypertrichosis1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0000998HP:0011913Lumbar hypertrichosis1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0000998HP:0002219Facial hypertrichosis1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000998HP:0002219Facial hypertrichosis1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000998HP:0002219Facial hypertrichosis1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0000998HP:0002219Facial hypertrichosis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0000998HP:0002219Facial hypertrichosis1UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0000998HP:0002219Facial hypertrichosis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0000998HP:0002219Facial hypertrichosis1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000998HP:0002219Facial hypertrichosis1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000998HP:0002219Facial hypertrichosis1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000998HP:0002219Facial hypertrichosis1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000998HP:0002219Facial hypertrichosis1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0000998HP:0002219Facial hypertrichosis1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000998HP:0002219Facial hypertrichosis1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0000998HP:0002219Facial hypertrichosis1ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0000998HP:0002219Facial hypertrichosis1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000998HP:0002219Facial hypertrichosis1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000998HP:0002219Facial hypertrichosis1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000998HP:0002219Facial hypertrichosis1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000998HP:0002219Facial hypertrichosis1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000998HP:0002219Facial hypertrichosis1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000998HP:0002219Facial hypertrichosis1ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0000998HP:0000664Synophrys2ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040283 - Occasional1
HP:0000998HP:0000664Synophrys2ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000998HP:0000664Synophrys2AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000998HP:0000664Synophrys2AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000998HP:0000664Synophrys2AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040281 - Very frequent6
HP:0000998HP:0000664Synophrys2AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000998HP:0032313Frontotemporal hypertrichosis2ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000998HP:0000664Synophrys2AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000998HP:0000664Synophrys2ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000998HP:0000664Synophrys2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000998HP:0000664Synophrys2ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000998HP:0000664Synophrys2ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000998HP:0000664Synophrys2ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000998HP:0000664Synophrys2ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000998HP:0000664Synophrys2ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0000998HP:0000664Synophrys2ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000998HP:0000664Synophrys2ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000998HP:0000664Synophrys2ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0000998HP:0000664Synophrys2BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000998HP:0000664Synophrys2BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000998HP:0000664Synophrys2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000998HP:0000664Synophrys2BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000998HP:0000664Synophrys2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000998HP:0000664Synophrys2CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000998HP:0000664Synophrys2CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000998HP:0000664Synophrys2CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000998HP:0000664Synophrys2CDC42BPB CL E G H95781738OMIM:619841
HP:0000998HP:0000664Synophrys2CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000998HP:0000664Synophrys2CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000998HP:0000664Synophrys2CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000998HP:0000664Synophrys2CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000998HP:0000664Synophrys2CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040283 - Occasional405
HP:0000998HP:0000664Synophrys2CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000998HP:0000664Synophrys2CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0000998HP:0000664Synophrys2CHD5 CL E G H2603816816OMIM:619873
HP:0000998HP:0000664Synophrys2CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000998HP:0000664Synophrys2CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000998HP:0000664Synophrys2CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0000998HP:0000664Synophrys2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000998HP:0000664Synophrys2COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000998HP:0000664Synophrys2CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000998HP:0000664Synophrys2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000998HP:0000664Synophrys2CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0000998HP:0000664Synophrys2CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0000998HP:0000664Synophrys2CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000998HP:0000664Synophrys2DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000998HP:0000664Synophrys2DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000998HP:0000664Synophrys2DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000998HP:0000664Synophrys2DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000998HP:0000664Synophrys2EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000998HP:0000664Synophrys2EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0000998HP:0000664Synophrys2EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0000998HP:0000664Synophrys2EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000998HP:0000664Synophrys2EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000998HP:0000664Synophrys2EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000998HP:0000664Synophrys2ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0000998HP:0000664Synophrys2ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0000998HP:0000664Synophrys2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000998HP:0000664Synophrys2FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000998HP:0000664Synophrys2FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000998HP:0000664Synophrys2FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent172
HP:0000998HP:0000664Synophrys2FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0000998HP:0000664Synophrys2FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0000998HP:0000664Synophrys2FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000998HP:0000664Synophrys2FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent198
HP:0000998HP:0000664Synophrys2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000998HP:0000664Synophrys2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000998HP:0000664Synophrys2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000998HP:0000664Synophrys2GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000998HP:0000664Synophrys2GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000998HP:0000664Synophrys2GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000998HP:0000664Synophrys2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000998HP:0000664Synophrys2HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000998HP:0000664Synophrys2HEATR3 CL E G H5502726087OMIM:620072
HP:0000998HP:0000664Synophrys2HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0000998HP:0000664Synophrys2HID1 CL E G H28398715736OMIM:619983
HP:0000998HP:0000664Synophrys2HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000998HP:0000664Synophrys2HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000998HP:0000664Synophrys2HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0000998HP:0000664Synophrys2HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000998HP:0000664Synophrys2IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000998HP:0000664Synophrys2IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000998HP:0000664Synophrys2IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000998HP:0000664Synophrys2KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000998HP:0000664Synophrys2KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000998HP:0000664Synophrys2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000998HP:0000664Synophrys2KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000998HP:0000664Synophrys2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000998HP:0000664Synophrys2KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial featuresHP:0040283 - Occasional3
HP:0000998HP:0000664Synophrys2KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000998HP:0000664Synophrys2KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000998HP:0000664Synophrys2KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000998HP:0000664Synophrys2KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0000998HP:0000664Synophrys2KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000998HP:0000664Synophrys2KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000998HP:0000664Synophrys2KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000998HP:0000664Synophrys2KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000998HP:0000664Synophrys2LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000998HP:0000664Synophrys2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000998HP:0000664Synophrys2MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000998HP:0000664Synophrys2MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000998HP:0000664Synophrys2MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000998HP:0000664Synophrys2MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000998HP:0000664Synophrys2MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000998HP:0000664Synophrys2MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000998HP:0000664Synophrys2MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0000998HP:0000664Synophrys2MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0000998HP:0000664Synophrys2NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000998HP:0000664Synophrys2NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0000998HP:0000664Synophrys2NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000998HP:0000664Synophrys2NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000998HP:0000664Synophrys2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000998HP:0000664Synophrys2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000998HP:0000664Synophrys2NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000998HP:0000664Synophrys2NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000998HP:0000664Synophrys2NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000998HP:0000664Synophrys2NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000998HP:0000664Synophrys2NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000998HP:0000664Synophrys2NUDT2 CL E G H3188049OMIM:619844
HP:0000998HP:0000664Synophrys2OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000998HP:0000664Synophrys2PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000998HP:0000664Synophrys2PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000998HP:0000664Synophrys2PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000998HP:0000664Synophrys2PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040282 - Frequent59
HP:0000998HP:0000664Synophrys2PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000998HP:0000664Synophrys2PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000998HP:0000664Synophrys2PCDHGC4 CL E G H560988717OMIM:619880
HP:0000998HP:0000664Synophrys2PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0000998HP:0000664Synophrys2PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0000998HP:0000664Synophrys2PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000998HP:0000664Synophrys2PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000998HP:0000664Synophrys2PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000998HP:0000664Synophrys2POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000998HP:0000664Synophrys2PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000998HP:0000664Synophrys2PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000998HP:0000664Synophrys2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000998HP:0000664Synophrys2PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000998HP:0000664Synophrys2PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000998HP:0000664Synophrys2RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000998HP:0000664Synophrys2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000998HP:0000664Synophrys2RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000998HP:0000664Synophrys2RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000998HP:0000664Synophrys2RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000998HP:0000664Synophrys2RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000998HP:0000664Synophrys2RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000998HP:0000664Synophrys2SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000998HP:0000664Synophrys2SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000998HP:0000664Synophrys2SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0000998HP:0000664Synophrys2SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000998HP:0000664Synophrys2SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000998HP:0000664Synophrys2SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000998HP:0000664Synophrys2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000998HP:0000664Synophrys2SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000998HP:0000664Synophrys2SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000998HP:0000664Synophrys2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000998HP:0000664Synophrys2SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000998HP:0000664Synophrys2SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndromeHP:0040283 - Occasional174
HP:0000998HP:0000664Synophrys2SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000998HP:0000664Synophrys2SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000998HP:0000664Synophrys2SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0000998HP:0000664Synophrys2SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0000998HP:0000664Synophrys2SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000998HP:0000664Synophrys2SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000998HP:0000664Synophrys2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000998HP:0000664Synophrys2STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0000998HP:0000664Synophrys2TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000998HP:0000664Synophrys2TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000998HP:0000664Synophrys2TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000998HP:0000664Synophrys2TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0000998HP:0000664Synophrys2TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000998HP:0000664Synophrys2TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000998HP:0000664Synophrys2TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000998HP:0000664Synophrys2TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000998HP:0000664Synophrys2TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0000998HP:0000664Synophrys2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000998HP:0000664Synophrys2TMEM147 CL E G H1043030414OMIM:620075
HP:0000998HP:0000664Synophrys2TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000998HP:0000664Synophrys2TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000998HP:0000664Synophrys2TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000998HP:0000664Synophrys2TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000998HP:0000664Synophrys2TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0000998HP:0000664Synophrys2TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000998HP:0000664Synophrys2TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000998HP:0000664Synophrys2TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000998HP:0000664Synophrys2TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0000998HP:0000664Synophrys2TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000998HP:0000664Synophrys2TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000998HP:0000664Synophrys2TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000998HP:0000664Synophrys2TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000998HP:0000664Synophrys2UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000998HP:0000664Synophrys2UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000998HP:0000664Synophrys2UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000998HP:0000664Synophrys2UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000998HP:0000664Synophrys2UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000998HP:0000664Synophrys2VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000998HP:0000664Synophrys2WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000998HP:0000664Synophrys2WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000998HP:0000664Synophrys2WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000998HP:0000664Synophrys2WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0000998HP:0000664Synophrys2XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0000998HP:0000664Synophrys2XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0000998HP:0000664Synophrys2ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0000998HP:0000664Synophrys2ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0000998HP:0000664Synophrys2ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000998HP:0000664Synophrys2ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000998HP:0000664Synophrys2ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000998HP:0000664Synophrys2ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000998HP:0000664Synophrys2ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000998HP:0000664Synophrys2ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734


Genes (293) :ABCA5 ABCC9 ADAT3 AFF3 AFF4 AGPAT2 AIP ALG9 AMMECR1 ANKRD11 ARID1A ARID1B ARID2 ARL3 ARX ASH1L ASXL1 ASXL2 ASXL3 ATP6V1B2 B3GLCT BAP1 BCAS3 BICRA BLM BMP2 BPTF BRD4 BSCL2 CAV1 CAVIN1 CCDC47 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDKL5 CDKN2A CDON CERT1 CHD5 CHMP1A CHRNA7 CHSY1 CKAP2L CLCN3 COG7 COX1 COX15 COX2 COX3 COX5A CREBBP CSNK2A1 CTCF CTNNB1 CTSC CUL4B CWF19L1 DDB1 DEAF1 DHX30 DOCK7 DPAGT1 DPF2 EBF3 ECHS1 EDN3 EDNRB EHMT1 EMC10 EP300 ERLIN2 FBXO28 FBXO31 FGF3 FGFR1 FHL1 FLII FOS FOXRED1 FREM1 GATA1 GJA5 GJA8 GJB4 GLB1 GNA14 GNB2 GNE GNS GPC3 GPC4 GPR101 HDAC8 HEATR3 HFE HGSNAT HID1 HIVEP2 HMGA2 HNRNPU HSPA9 IDS IGF1R IL1RAPL1 IL6ST INSR IQSEC2 KATNB1 KCNH1 KCNK4 KCNMA1 KCNN3 KDM1A KDM4B KIAA0753 KIFBP KIT KLF13 KMT2A KNL1 KNSTRN KRT10 LEMD3 LIPT1 LTBP3 MAB21L1 MAN2B1 MAP1B MAPK1 MAPK8IP3 MAPRE2 MBD5 MED13 MED27 MITF MTFMT NAGLU NANS ND1 ND4 ND5 ND6 NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NEU1 NFIX NIPBL NMNAT1 NOTCH2 NSUN2 NUDT2 NUS1 OGT PACS1 PACS2 PAX3 PCDHGC4 PDHA1 PET100 PHF8 PHIP PIGN PIGU PIK3CD POLR3A PPARG PPOX PPP1R15B PRKAR1A PRKG2 PRR12 PSMB8 PSMC3 PSMD12 PUF60 RAB18 RAB3GAP1 RAC1 RAD21 RAI1 RNF125 RPS23 RUSC2 SCO2 SDHA SETBP1 SETD5 SGSH SLC19A3 SLC1A4 SLC25A24 SLC29A3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMPD4 SMS SNAI2 SNX14 SOX10 SOX11 SOX4 SPATA5 SPEN SPOP SPTBN1 SRCAP SRD5A3 STAG1 SURF1 SUZ12 TACO1 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TERT TFE3 TLK2 TMCO1 TMEM147 TMEM94 TOE1 TP53 TRAIP TRAPPC10 TRAPPC9 TRIM8 TRIO TRMT1 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTI2 TUBGCP2 TWIST2 UBE2A UBR7 UGDH UGP2 UQCC2 UROD UROS USP9X VPS33A VPS37A WAC WBP11 WNT4 XYLT1 ZBTB20 ZIC2 ZMYND11 ZNF292 ZNF407 ZNF699 ZNF711 ZNRF3

Diseases (265) :ORPHA:2026 OMIM:135400 OMIM:239850 ORPHA:363528 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:528 ORPHA:963 ORPHA:79328 OMIM:263210 OMIM:300990 ORPHA:2332 OMIM:148050 ORPHA:1465 OMIM:135900 OMIM:618161 OMIM:300004 OMIM:617796 OMIM:605039 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:3473 OMIM:616455 OMIM:261540 OMIM:619762 OMIM:619641 OMIM:619325 OMIM:210900 OMIM:617877 ORPHA:529962 ORPHA:199 OMIM:618268 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:618929 OMIM:617694 ORPHA:505652 ORPHA:1501 OMIM:614226 OMIM:616351 OMIM:619873 OMIM:614961 OMIM:612001 OMIM:605282 OMIM:272440 OMIM:619512 OMIM:608779 ORPHA:550 ORPHA:255241 OMIM:619064 OMIM:180849 OMIM:617062 ORPHA:363611 ORPHA:678 ORPHA:85293 ORPHA:453521 OMIM:616127 OMIM:619426 ORPHA:819 OMIM:617804 ORPHA:411986 ORPHA:86309 OMIM:617330 ORPHA:897 OMIM:610253 ORPHA:96147 OMIM:619264 ORPHA:209951 ORPHA:280384 OMIM:619777 OMIM:615979 ORPHA:90024 ORPHA:3366 OMIM:190440 OMIM:300280 ORPHA:79277 OMIM:612474 OMIM:617524 OMIM:230500 ORPHA:1063 OMIM:619503 OMIM:269921 OMIM:252940 OMIM:312870 OMIM:300882 OMIM:620072 OMIM:176100 OMIM:252930 OMIM:619983 OMIM:616977 ORPHA:94063 ORPHA:238769 OMIM:616854 OMIM:309900 OMIM:270450 OMIM:300143 OMIM:619750 OMIM:246200 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:616212 OMIM:135500 OMIM:618381 OMIM:618729 OMIM:618658 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:619479 OMIM:609460 ORPHA:2884 ORPHA:319182 OMIM:605130 OMIM:604321 ORPHA:221139 OMIM:609165 OMIM:601216 OMIM:618479 OMIM:248500 OMIM:618918 OMIM:619087 OMIM:618443 OMIM:616734 ORPHA:228402 OMIM:618009 OMIM:619286 OMIM:193510 OMIM:252920 OMIM:610442 OMIM:616116 OMIM:618244 ORPHA:70474 ORPHA:3253 ORPHA:93400 ORPHA:93399 OMIM:602535 OMIM:122470 OMIM:619260 OMIM:102500 ORPHA:955 OMIM:611091 OMIM:619844 OMIM:617082 OMIM:300997 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:619880 OMIM:300263 ORPHA:85287 OMIM:617991 ORPHA:589905 ORPHA:280633 OMIM:618590 ORPHA:3455 ORPHA:79473 ORPHA:391408 OMIM:619636 OMIM:619539 OMIM:256040 OMIM:619354 ORPHA:508498 OMIM:614222 OMIM:600118 OMIM:617751 OMIM:614701 OMIM:182290 OMIM:616260 OMIM:617412 OMIM:617773 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:615761 OMIM:252900 ORPHA:447997 OMIM:612289 ORPHA:168569 OMIM:619293 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:618622 OMIM:309583 ORPHA:3063 ORPHA:397709 OMIM:616354 OMIM:615866 ORPHA:457351 OMIM:619312 OMIM:618828 OMIM:619475 OMIM:136140 OMIM:612379 ORPHA:324737 ORPHA:502434 OMIM:618786 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:606003 OMIM:618950 OMIM:617193 ORPHA:488632 OMIM:301066 OMIM:618050 ORPHA:1394 OMIM:213980 OMIM:620075 OMIM:618316 OMIM:614969 OMIM:616777 OMIM:620027 ORPHA:352530 OMIM:613192 OMIM:619428 OMIM:617061 ORPHA:476126 OMIM:618302 OMIM:615541 ORPHA:391307 OMIM:618737 OMIM:209885 OMIM:300860 ORPHA:163956 OMIM:619189 OMIM:618792 OMIM:618744 OMIM:615824 ORPHA:95159 OMIM:263700 OMIM:300968 ORPHA:480880 ORPHA:505248 OMIM:617303 OMIM:614898 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:619227 ORPHA:247768 OMIM:615777 ORPHA:370930 ORPHA:3042 OMIM:259050 OMIM:609637 OMIM:616083 OMIM:619188 OMIM:619557 OMIM:619488 OMIM:300803
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.