Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair quantity (HP:0011362)help
Parent Node:
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Hypertrichosis (HP:0000998)help
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Facial hypertrichosis (HP:0002219)help
Term ID: 2219
Name: Facial hypertrichosis
Synonym: Increased facial hair growth
Definition: Excessive, increased hair growth located in the facial region.
Comments:
Reference: HP:0002219
Genes and Diseases:
 
       Child Nodes:
........expandSynophrys (HP:0000664) help

 Sister Nodes: 
..expandAnterior cervical hypertrichosis (HP:0004535) help
..expandCongenital, generalized hypertrichosis (HP:0004540) help
..expandElbow hypertrichosis (HP:0004780) help
..expandGeneralized hypertrichosis (HP:0004554) help
..expandLumbar hypertrichosis (HP:0011913) help
..expandSacral hypertrichosis (HP:0004532) help
..expandThoracic hypertrichosis (HP:0011914) 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:0002219HP:0002219Facial hypertrichosis0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome1
HP:0002219HP:0002219Facial hypertrichosis0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0002219HP:0002219Facial hypertrichosis0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002219HP:0002219Facial hypertrichosis0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002219HP:0002219Facial hypertrichosis0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0002219HP:0002219Facial hypertrichosis0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002219HP:0002219Facial hypertrichosis0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0002219HP:0002219Facial hypertrichosis0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0002219HP:0002219Facial hypertrichosis0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0002219HP:0002219Facial hypertrichosis0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0002219HP:0002219Facial hypertrichosis0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0002219HP:0002219Facial hypertrichosis0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002219HP:0002219Facial hypertrichosis0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0002219HP:0002219Facial hypertrichosis0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002219HP:0002219Facial hypertrichosis0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0002219HP:0002219Facial hypertrichosis0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0002219HP:0002219Facial hypertrichosis0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0002219HP:0002219Facial hypertrichosis0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002219HP:0002219Facial hypertrichosis0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0002219HP:0002219Facial hypertrichosis0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0002219HP:0002219Facial hypertrichosis0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0002219HP:0002219Facial hypertrichosis0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002219HP:0002219Facial hypertrichosis0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002219HP:0002219Facial hypertrichosis0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002219HP:0002219Facial hypertrichosis0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0002219HP:0002219Facial hypertrichosis0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0002219HP:0002219Facial hypertrichosis0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002219HP:0002219Facial hypertrichosis0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0002219HP:0002219Facial hypertrichosis0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0002219HP:0002219Facial hypertrichosis0CDC42BPB CL E G H95781738OMIM:619841
HP:0002219HP:0002219Facial hypertrichosis0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0002219HP:0002219Facial hypertrichosis0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0002219HP:0002219Facial hypertrichosis0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002219HP:0002219Facial hypertrichosis0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0002219HP:0002219Facial hypertrichosis0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0002219HP:0002219Facial hypertrichosis0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0002219HP:0002219Facial hypertrichosis0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0002219HP:0002219Facial hypertrichosis0CHD5 CL E G H2603816816OMIM:619873
HP:0002219HP:0002219Facial hypertrichosis0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002219HP:0002219Facial hypertrichosis0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0002219HP:0002219Facial hypertrichosis0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0002219HP:0002219Facial hypertrichosis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0002219HP:0002219Facial hypertrichosis0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002219HP:0002219Facial hypertrichosis0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002219HP:0002219Facial hypertrichosis0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0002219HP:0002219Facial hypertrichosis0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0002219HP:0002219Facial hypertrichosis0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0002219HP:0002219Facial hypertrichosis0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0002219HP:0002219Facial hypertrichosis0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002219HP:0002219Facial hypertrichosis0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002219HP:0002219Facial hypertrichosis0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0002219HP:0002219Facial hypertrichosis0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0002219HP:0002219Facial hypertrichosis0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0002219HP:0002219Facial hypertrichosis0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002219HP:0002219Facial hypertrichosis0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0002219HP:0002219Facial hypertrichosis0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0002219HP:0002219Facial hypertrichosis0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002219HP:0002219Facial hypertrichosis0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0002219HP:0002219Facial hypertrichosis0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002219HP:0002219Facial hypertrichosis0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002219HP:0002219Facial hypertrichosis0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0002219HP:0002219Facial hypertrichosis0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0002219HP:0002219Facial hypertrichosis0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002219HP:0002219Facial hypertrichosis0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0002219HP:0002219Facial hypertrichosis0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0002219HP:0002219Facial hypertrichosis0FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephaly172
HP:0002219HP:0002219Facial hypertrichosis0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0002219HP:0002219Facial hypertrichosis0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0002219HP:0002219Facial hypertrichosis0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0002219HP:0002219Facial hypertrichosis0FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephaly198
HP:0002219HP:0002219Facial hypertrichosis0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0002219HP:0002219Facial hypertrichosis0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0002219HP:0002219Facial hypertrichosis0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0002219HP:0002219Facial hypertrichosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002219HP:0002219Facial hypertrichosis0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0002219HP:0002219Facial hypertrichosis0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0002219HP:0002219Facial hypertrichosis0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002219HP:0002219Facial hypertrichosis0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0002219HP:0002219Facial hypertrichosis0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0002219HP:0002219Facial hypertrichosis0HEATR3 CL E G H5502726087OMIM:620072
HP:0002219HP:0002219Facial hypertrichosis0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0002219HP:0002219Facial hypertrichosis0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0002219HP:0002219Facial hypertrichosis0HID1 CL E G H28398715736OMIM:619983
HP:0002219HP:0002219Facial hypertrichosis0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002219HP:0002219Facial hypertrichosis0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0002219HP:0002219Facial hypertrichosis0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0002219HP:0002219Facial hypertrichosis0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0002219HP:0002219Facial hypertrichosis0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0002219HP:0002219Facial hypertrichosis0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0002219HP:0002219Facial hypertrichosis0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0002219HP:0002219Facial hypertrichosis0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0002219HP:0002219Facial hypertrichosis0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0002219HP:0002219Facial hypertrichosis0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0002219HP:0002219Facial hypertrichosis0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0002219HP:0002219Facial hypertrichosis0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002219HP:0002219Facial hypertrichosis0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0002219HP:0002219Facial hypertrichosis0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0002219HP:0002219Facial hypertrichosis0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0002219HP:0002219Facial hypertrichosis0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0002219HP:0002219Facial hypertrichosis0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0002219HP:0002219Facial hypertrichosis0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002219HP:0002219Facial hypertrichosis0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0002219HP:0002219Facial hypertrichosis0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0002219HP:0002219Facial hypertrichosis0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0002219HP:0002219Facial hypertrichosis0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0002219HP:0002219Facial hypertrichosis0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0002219HP:0002219Facial hypertrichosis0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0002219HP:0002219Facial hypertrichosis0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0002219HP:0002219Facial hypertrichosis0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002219HP:0002219Facial hypertrichosis0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002219HP:0002219Facial hypertrichosis0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002219HP:0002219Facial hypertrichosis0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0002219HP:0002219Facial hypertrichosis0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0002219HP:0002219Facial hypertrichosis0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002219HP:0002219Facial hypertrichosis0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002219HP:0002219Facial hypertrichosis0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0002219HP:0002219Facial hypertrichosis0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndrome91
HP:0002219HP:0002219Facial hypertrichosis0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0002219HP:0002219Facial hypertrichosis0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0002219HP:0002219Facial hypertrichosis0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0002219HP:0002219Facial hypertrichosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0002219HP:0002219Facial hypertrichosis0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002219HP:0002219Facial hypertrichosis0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0002219HP:0002219Facial hypertrichosis0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0002219HP:0002219Facial hypertrichosis0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002219HP:0002219Facial hypertrichosis0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0002219HP:0002219Facial hypertrichosis0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0002219HP:0002219Facial hypertrichosis0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0002219HP:0002219Facial hypertrichosis0NUDT2 CL E G H3188049OMIM:619844
HP:0002219HP:0002219Facial hypertrichosis0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0002219HP:0002219Facial hypertrichosis0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0002219HP:0002219Facial hypertrichosis0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0002219HP:0002219Facial hypertrichosis0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0002219HP:0002219Facial hypertrichosis0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0002219HP:0002219Facial hypertrichosis0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0002219HP:0002219Facial hypertrichosis0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0002219HP:0002219Facial hypertrichosis0PCDHGC4 CL E G H560988717OMIM:619880
HP:0002219HP:0002219Facial hypertrichosis0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0002219HP:0002219Facial hypertrichosis0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0002219HP:0002219Facial hypertrichosis0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0002219HP:0002219Facial hypertrichosis0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0002219HP:0002219Facial hypertrichosis0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0002219HP:0002219Facial hypertrichosis0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0002219HP:0002219Facial hypertrichosis0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0002219HP:0002219Facial hypertrichosis0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002219HP:0002219Facial hypertrichosis0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002219HP:0002219Facial hypertrichosis0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0002219HP:0002219Facial hypertrichosis0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0002219HP:0002219Facial hypertrichosis0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0002219HP:0002219Facial hypertrichosis0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002219HP:0002219Facial hypertrichosis0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0002219HP:0002219Facial hypertrichosis0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0002219HP:0002219Facial hypertrichosis0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0002219HP:0002219Facial hypertrichosis0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0002219HP:0002219Facial hypertrichosis0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0002219HP:0002219Facial hypertrichosis0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0002219HP:0002219Facial hypertrichosis0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0002219HP:0002219Facial hypertrichosis0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0002219HP:0002219Facial hypertrichosis0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA97
HP:0002219HP:0002219Facial hypertrichosis0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0002219HP:0002219Facial hypertrichosis0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0002219HP:0002219Facial hypertrichosis0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002219HP:0002219Facial hypertrichosis0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0002219HP:0002219Facial hypertrichosis0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0002219HP:0002219Facial hypertrichosis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002219HP:0002219Facial hypertrichosis0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0002219HP:0002219Facial hypertrichosis0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0002219HP:0002219Facial hypertrichosis0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0002219HP:0002219Facial hypertrichosis0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0002219HP:0002219Facial hypertrichosis0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0002219HP:0002219Facial hypertrichosis0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0002219HP:0002219Facial hypertrichosis0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0002219HP:0002219Facial hypertrichosis0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndrome61
HP:0002219HP:0002219Facial hypertrichosis0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0002219HP:0002219Facial hypertrichosis0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0002219HP:0002219Facial hypertrichosis0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002219HP:0002219Facial hypertrichosis0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0002219HP:0002219Facial hypertrichosis0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002219HP:0002219Facial hypertrichosis0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0002219HP:0002219Facial hypertrichosis0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0002219HP:0002219Facial hypertrichosis0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0002219HP:0002219Facial hypertrichosis0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002219HP:0002219Facial hypertrichosis0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002219HP:0002219Facial hypertrichosis0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0002219HP:0002219Facial hypertrichosis0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002219HP:0002219Facial hypertrichosis0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0002219HP:0002219Facial hypertrichosis0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002219HP:0002219Facial hypertrichosis0TMEM147 CL E G H1043030414OMIM:620075
HP:0002219HP:0002219Facial hypertrichosis0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0002219HP:0002219Facial hypertrichosis0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002219HP:0002219Facial hypertrichosis0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0002219HP:0002219Facial hypertrichosis0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0002219HP:0002219Facial hypertrichosis0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0002219HP:0002219Facial hypertrichosis0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002219HP:0002219Facial hypertrichosis0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002219HP:0002219Facial hypertrichosis0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0002219HP:0002219Facial hypertrichosis0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0002219HP:0002219Facial hypertrichosis0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0002219HP:0002219Facial hypertrichosis0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0002219HP:0002219Facial hypertrichosis0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0002219HP:0002219Facial hypertrichosis0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002219HP:0002219Facial hypertrichosis0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0002219HP:0002219Facial hypertrichosis0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0002219HP:0002219Facial hypertrichosis0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002219HP:0002219Facial hypertrichosis0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002219HP:0002219Facial hypertrichosis0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0002219HP:0002219Facial hypertrichosis0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0002219HP:0002219Facial hypertrichosis0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0002219HP:0002219Facial hypertrichosis0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0002219HP:0002219Facial hypertrichosis0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002219HP:0002219Facial hypertrichosis0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0002219HP:0002219Facial hypertrichosis0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0002219HP:0002219Facial hypertrichosis0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0002219HP:0002219Facial hypertrichosis0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0002219HP:0002219Facial hypertrichosis0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0002219HP:0002219Facial hypertrichosis0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0002219HP:0002219Facial hypertrichosis0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0002219HP:0002219Facial hypertrichosis0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0002219HP:0002219Facial hypertrichosis0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0002219HP:0002219Facial hypertrichosis0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0002219HP:0002219Facial hypertrichosis0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0002219HP:0002219Facial hypertrichosis0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0002219HP:0002219Facial hypertrichosis0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002219HP:0002219Facial hypertrichosis0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0002219HP:0000664Synophrys1ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040283 - Occasional1
HP:0002219HP:0000664Synophrys1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0002219HP:0000664Synophrys1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002219HP:0000664Synophrys1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002219HP:0000664Synophrys1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040281 - Very frequent6
HP:0002219HP:0000664Synophrys1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0002219HP:0032313Frontotemporal hypertrichosis1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0002219HP:0000664Synophrys1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0002219HP:0000664Synophrys1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0002219HP:0000664Synophrys1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0002219HP:0000664Synophrys1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002219HP:0000664Synophrys1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0002219HP:0000664Synophrys1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002219HP:0000664Synophrys1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002219HP:0000664Synophrys1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0002219HP:0000664Synophrys1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0002219HP:0000664Synophrys1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002219HP:0000664Synophrys1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0002219HP:0000664Synophrys1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002219HP:0000664Synophrys1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002219HP:0000664Synophrys1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0002219HP:0000664Synophrys1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0002219HP:0000664Synophrys1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0002219HP:0000664Synophrys1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0002219HP:0000664Synophrys1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0002219HP:0000664Synophrys1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0002219HP:0000664Synophrys1CDC42BPB CL E G H95781738OMIM:619841
HP:0002219HP:0000664Synophrys1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0002219HP:0000664Synophrys1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0002219HP:0000664Synophrys1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002219HP:0000664Synophrys1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0002219HP:0000664Synophrys1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040283 - Occasional405
HP:0002219HP:0000664Synophrys1CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0002219HP:0000664Synophrys1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0002219HP:0000664Synophrys1CHD5 CL E G H2603816816OMIM:619873
HP:0002219HP:0000664Synophrys1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002219HP:0000664Synophrys1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0002219HP:0000664Synophrys1CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0002219HP:0000664Synophrys1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0002219HP:0000664Synophrys1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002219HP:0000664Synophrys1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0002219HP:0000664Synophrys1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0002219HP:0000664Synophrys1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0002219HP:0000664Synophrys1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002219HP:0000664Synophrys1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002219HP:0000664Synophrys1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002219HP:0000664Synophrys1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0002219HP:0000664Synophrys1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0002219HP:0000664Synophrys1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0002219HP:0000664Synophrys1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002219HP:0000664Synophrys1EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0002219HP:0000664Synophrys1EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0002219HP:0000664Synophrys1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002219HP:0000664Synophrys1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0002219HP:0000664Synophrys1EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002219HP:0000664Synophrys1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0002219HP:0000664Synophrys1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0002219HP:0000664Synophrys1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002219HP:0000664Synophrys1FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0002219HP:0000664Synophrys1FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0002219HP:0000664Synophrys1FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent172
HP:0002219HP:0000664Synophrys1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0002219HP:0000664Synophrys1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0002219HP:0000664Synophrys1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0002219HP:0000664Synophrys1FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent198
HP:0002219HP:0000664Synophrys1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0002219HP:0000664Synophrys1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0002219HP:0000664Synophrys1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002219HP:0000664Synophrys1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0002219HP:0000664Synophrys1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0002219HP:0000664Synophrys1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0002219HP:0000664Synophrys1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0002219HP:0000664Synophrys1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0002219HP:0000664Synophrys1HEATR3 CL E G H5502726087OMIM:620072
HP:0002219HP:0000664Synophrys1HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0002219HP:0000664Synophrys1HID1 CL E G H28398715736OMIM:619983
HP:0002219HP:0000664Synophrys1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002219HP:0000664Synophrys1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0002219HP:0000664Synophrys1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0002219HP:0000664Synophrys1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0002219HP:0000664Synophrys1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0002219HP:0000664Synophrys1IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0002219HP:0000664Synophrys1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0002219HP:0000664Synophrys1KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0002219HP:0000664Synophrys1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0002219HP:0000664Synophrys1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0002219HP:0000664Synophrys1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0002219HP:0000664Synophrys1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0002219HP:0000664Synophrys1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial featuresHP:0040283 - Occasional3
HP:0002219HP:0000664Synophrys1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0002219HP:0000664Synophrys1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002219HP:0000664Synophrys1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0002219HP:0000664Synophrys1KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0002219HP:0000664Synophrys1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0002219HP:0000664Synophrys1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0002219HP:0000664Synophrys1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0002219HP:0000664Synophrys1KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0002219HP:0000664Synophrys1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0002219HP:0000664Synophrys1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0002219HP:0000664Synophrys1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002219HP:0000664Synophrys1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002219HP:0000664Synophrys1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0002219HP:0000664Synophrys1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0002219HP:0000664Synophrys1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002219HP:0000664Synophrys1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002219HP:0000664Synophrys1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0002219HP:0000664Synophrys1MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0002219HP:0000664Synophrys1NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0002219HP:0000664Synophrys1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0002219HP:0000664Synophrys1NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0002219HP:0000664Synophrys1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0002219HP:0000664Synophrys1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0002219HP:0000664Synophrys1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0002219HP:0000664Synophrys1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0002219HP:0000664Synophrys1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002219HP:0000664Synophrys1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0002219HP:0000664Synophrys1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0002219HP:0000664Synophrys1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0002219HP:0000664Synophrys1NUDT2 CL E G H3188049OMIM:619844
HP:0002219HP:0000664Synophrys1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0002219HP:0000664Synophrys1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0002219HP:0000664Synophrys1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0002219HP:0000664Synophrys1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0002219HP:0000664Synophrys1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040282 - Frequent59
HP:0002219HP:0000664Synophrys1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0002219HP:0000664Synophrys1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0002219HP:0000664Synophrys1PCDHGC4 CL E G H560988717OMIM:619880
HP:0002219HP:0000664Synophrys1PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0002219HP:0000664Synophrys1PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0002219HP:0000664Synophrys1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0002219HP:0000664Synophrys1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0002219HP:0000664Synophrys1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0002219HP:0000664Synophrys1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0002219HP:0000664Synophrys1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0002219HP:0000664Synophrys1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002219HP:0000664Synophrys1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002219HP:0000664Synophrys1PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0002219HP:0000664Synophrys1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0002219HP:0000664Synophrys1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002219HP:0000664Synophrys1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0002219HP:0000664Synophrys1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0002219HP:0000664Synophrys1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0002219HP:0000664Synophrys1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0002219HP:0000664Synophrys1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0002219HP:0000664Synophrys1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0002219HP:0000664Synophrys1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0002219HP:0000664Synophrys1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0002219HP:0000664Synophrys1SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0002219HP:0000664Synophrys1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0002219HP:0000664Synophrys1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0002219HP:0000664Synophrys1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002219HP:0000664Synophrys1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0002219HP:0000664Synophrys1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0002219HP:0000664Synophrys1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002219HP:0000664Synophrys1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0002219HP:0000664Synophrys1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0002219HP:0000664Synophrys1SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndromeHP:0040283 - Occasional174
HP:0002219HP:0000664Synophrys1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0002219HP:0000664Synophrys1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0002219HP:0000664Synophrys1SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0002219HP:0000664Synophrys1SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0002219HP:0000664Synophrys1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0002219HP:0000664Synophrys1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0002219HP:0000664Synophrys1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002219HP:0000664Synophrys1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0002219HP:0000664Synophrys1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002219HP:0000664Synophrys1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0002219HP:0000664Synophrys1TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0002219HP:0000664Synophrys1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0002219HP:0000664Synophrys1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002219HP:0000664Synophrys1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002219HP:0000664Synophrys1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0002219HP:0000664Synophrys1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002219HP:0000664Synophrys1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0002219HP:0000664Synophrys1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0002219HP:0000664Synophrys1TMEM147 CL E G H1043030414OMIM:620075
HP:0002219HP:0000664Synophrys1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0002219HP:0000664Synophrys1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002219HP:0000664Synophrys1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0002219HP:0000664Synophrys1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0002219HP:0000664Synophrys1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0002219HP:0000664Synophrys1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002219HP:0000664Synophrys1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0002219HP:0000664Synophrys1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0002219HP:0000664Synophrys1TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0002219HP:0000664Synophrys1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0002219HP:0000664Synophrys1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0002219HP:0000664Synophrys1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0002219HP:0000664Synophrys1TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002219HP:0000664Synophrys1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0002219HP:0000664Synophrys1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0002219HP:0000664Synophrys1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002219HP:0000664Synophrys1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002219HP:0000664Synophrys1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0002219HP:0000664Synophrys1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002219HP:0000664Synophrys1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0002219HP:0000664Synophrys1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0002219HP:0000664Synophrys1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0002219HP:0000664Synophrys1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0002219HP:0000664Synophrys1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0002219HP:0000664Synophrys1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0002219HP:0000664Synophrys1ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0002219HP:0000664Synophrys1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0002219HP:0000664Synophrys1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0002219HP:0000664Synophrys1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0002219HP:0000664Synophrys1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0002219HP:0000664Synophrys1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0002219HP:0000664Synophrys1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002219HP:0000664Synophrys1ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734


Genes (184) :ABCA5 ADAT3 AFF3 AFF4 AIP ALG9 AMMECR1 ANKRD11 ARID1B ARL3 ARX ASH1L ASXL1 ASXL2 ASXL3 ATP6V1B2 B3GLCT BCAS3 BICRA BMP2 BPTF BRD4 CCDC47 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDKL5 CDON CERT1 CHD5 CHMP1A CHRNA7 CHSY1 CLCN3 COX5A CREBBP CSNK2A1 CTCF CUL4B CWF19L1 DDB1 DEAF1 DHX30 DOCK7 EBF3 EDN3 EDNRB EHMT1 EMC10 EP300 ERLIN2 FBXO28 FBXO31 FGF3 FGFR1 FHL1 FLII FREM1 GATA1 GJA5 GJA8 GNB2 GNE GNS GPR101 HDAC8 HEATR3 HFE HGSNAT HID1 HIVEP2 HMGA2 HNRNPU HSPA9 IGF1R IL1RAPL1 INSR IQSEC2 KATNB1 KCNH1 KCNK4 KCNMA1 KCNN3 KDM1A KDM4B KIFBP KIT KLF13 KMT2A KNL1 LEMD3 MAB21L1 MAP1B MAPK8IP3 MAPRE2 MBD5 MED13 MED27 MITF NAGLU NANS NDST1 NECTIN1 NFIX NIPBL NMNAT1 NOTCH2 NSUN2 NUDT2 OGT PACS1 PACS2 PAX3 PCDHGC4 PHF8 PHIP PIGN POLR3A PPP1R15B PRKG2 PRR12 PSMC3 PSMD12 RAB3GAP1 RAC1 RAD21 RAI1 RPS23 RUSC2 SETBP1 SETD5 SGSH SLC1A4 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SMS SNAI2 SNX14 SOX10 SPEN SPOP SPTBN1 STAG1 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TFE3 TMCO1 TMEM147 TMEM94 TOE1 TRAPPC10 TRAPPC9 TRIM8 TRIO TRMT1 TRMT10A TTI2 TUBGCP2 UBE2A UGDH UGP2 UQCC2 UROD UROS VPS33A WAC WNT4 XYLT1 ZBTB20 ZIC2 ZMYND11 ZNF292 ZNF407 ZNF699 ZNF711

Diseases (200) :ORPHA:2026 ORPHA:363528 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:963 OMIM:263210 OMIM:300990 OMIM:148050 ORPHA:2332 OMIM:135900 OMIM:618161 OMIM:300004 OMIM:617796 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:3473 OMIM:616455 OMIM:261540 OMIM:619641 OMIM:619325 OMIM:617877 ORPHA:529962 ORPHA:199 OMIM:618268 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:618929 OMIM:617694 ORPHA:505652 OMIM:614226 OMIM:616351 OMIM:619873 OMIM:614961 OMIM:612001 OMIM:605282 OMIM:619512 OMIM:619064 OMIM:180849 OMIM:617062 ORPHA:363611 ORPHA:85293 ORPHA:453521 OMIM:616127 OMIM:619426 ORPHA:819 OMIM:617804 ORPHA:411986 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:619503 OMIM:269921 OMIM:252940 OMIM:300882 OMIM:620072 OMIM:176100 OMIM:252930 OMIM:619983 OMIM:616977 ORPHA:94063 ORPHA:238769 OMIM:616854 OMIM:270450 OMIM:300143 ORPHA:508 OMIM:616212 OMIM:135500 OMIM:618381 OMIM:618729 OMIM:618658 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:609460 ORPHA:2884 ORPHA:319182 OMIM:605130 OMIM:604321 OMIM:618479 OMIM:618918 OMIM:618443 OMIM:616734 ORPHA:228402 OMIM:618009 OMIM:619286 OMIM:193510 OMIM:252920 OMIM:610442 OMIM:616116 ORPHA:3253 OMIM:602535 OMIM:122470 OMIM:619260 OMIM:102500 ORPHA:955 OMIM:611091 OMIM:619844 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 ORPHA:3455 ORPHA:391408 OMIM:619636 OMIM:619539 OMIM:619354 OMIM:600118 OMIM:617751 OMIM:614701 OMIM:182290 OMIM:617412 OMIM:617773 OMIM:616078 OMIM:615761 OMIM:252900 ORPHA:447997 OMIM:612289 OMIM:619293 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:309583 ORPHA:3063 ORPHA:397709 OMIM:619312 OMIM:618828 OMIM:619475 ORPHA:502434 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:606003 OMIM:618950 OMIM:617193 ORPHA:488632 OMIM:301066 ORPHA:1394 OMIM:213980 OMIM:620075 OMIM:618316 OMIM:614969 OMIM:620027 ORPHA:352530 OMIM:613192 OMIM:619428 OMIM:617061 ORPHA:476126 OMIM:618302 OMIM:615541 ORPHA:391307 OMIM:618737 OMIM:300860 ORPHA:163956 OMIM:618792 OMIM:618744 OMIM:615824 ORPHA:95159 OMIM:617303 OMIM:616708 ORPHA:284169 ORPHA:466950 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.