Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormality of globe location (HP:0100886)help
Term ID: 100886
Name: Abnormality of globe location
Synonym: Abnormality of eyeball location; Abnormality of eyeball position; Abnormality of globe position
Definition: An abnormality in the placement of the ocular globe (eyeball).
Comments:
Reference: HP:0100886
Genes and Diseases:
 
       Child Nodes:
........expandHypertelorism (HP:0000316) help
........expandDeeply set eye (HP:0000490) help
........expandProptosis (HP:0000520) help
................... HP:0000586 Shallow orbits
........expandHypotelorism (HP:0000601) help
........expandCyclopia (HP:0009914) help
........expandVertical orbital dystopia (HP:0030867) help

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) 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:0100886HP:0100886Abnormality of globe location0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0100886HP:0100886Abnormality of globe location0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0100886HP:0100886Abnormality of globe location0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B130
HP:0100886HP:0100886Abnormality of globe location0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0100886HP:0100886Abnormality of globe location0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0100886HP:0100886Abnormality of globe location0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0100886HP:0100886Abnormality of globe location0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0100886HP:0100886Abnormality of globe location0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0100886HP:0100886Abnormality of globe location0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0100886HP:0100886Abnormality of globe location0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0100886HP:0100886Abnormality of globe location0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0100886HP:0100886Abnormality of globe location0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0100886HP:0100886Abnormality of globe location0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0100886HP:0100886Abnormality of globe location0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0100886HP:0100886Abnormality of globe location0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0100886HP:0100886Abnormality of globe location0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0100886HP:0100886Abnormality of globe location0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0100886HP:0100886Abnormality of globe location0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0100886HP:0100886Abnormality of globe location0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency13
HP:0100886HP:0100886Abnormality of globe location0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiency13
HP:0100886HP:0100886Abnormality of globe location0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0100886HP:0100886Abnormality of globe location0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0100886HP:0100886Abnormality of globe location0ADAMTS3 CL E G H9508219OMIM:618154Hennekam lymphangiectasia-lymphedema syndrome 31
HP:0100886HP:0100886Abnormality of globe location0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0100886HP:0100886Abnormality of globe location0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0100886HP:0100886Abnormality of globe location0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0100886HP:0100886Abnormality of globe location0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0100886HP:0100886Abnormality of globe location0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0100886HP:0100886Abnormality of globe location0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0100886HP:0100886Abnormality of globe location0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0100886HP:0100886Abnormality of globe location0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0100886HP:0100886Abnormality of globe location0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0100886HP:0100886Abnormality of globe location0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100886HP:0100886Abnormality of globe location0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0100886HP:0100886Abnormality of globe location0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0100886HP:0100886Abnormality of globe location0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0100886HP:0100886Abnormality of globe location0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100886HP:0100886Abnormality of globe location0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100886HP:0100886Abnormality of globe location0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0100886HP:0100886Abnormality of globe location0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0100886HP:0100886Abnormality of globe location0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency35
HP:0100886HP:0100886Abnormality of globe location0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik58
HP:0100886HP:0100886Abnormality of globe location0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDG96
HP:0100886HP:0100886Abnormality of globe location0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0100886HP:0100886Abnormality of globe location0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDG66
HP:0100886HP:0100886Abnormality of globe location0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0100886HP:0100886Abnormality of globe location0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0100886HP:0100886Abnormality of globe location0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0100886HP:0100886Abnormality of globe location0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0100886HP:0100886Abnormality of globe location0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0100886HP:0100886Abnormality of globe location0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0100886HP:0100886Abnormality of globe location0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0100886HP:0100886Abnormality of globe location0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood126
HP:0100886HP:0100886Abnormality of globe location0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0100886HP:0100886Abnormality of globe location0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0100886HP:0100886Abnormality of globe location0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0100886HP:0100886Abnormality of globe location0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0100886HP:0100886Abnormality of globe location0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0100886HP:0100886Abnormality of globe location0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0100886HP:0100886Abnormality of globe location0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2132
HP:0100886HP:0100886Abnormality of globe location0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0100886HP:0100886Abnormality of globe location0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0100886HP:0100886Abnormality of globe location0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0100886HP:0100886Abnormality of globe location0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasia164
HP:0100886HP:0100886Abnormality of globe location0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant164
HP:0100886HP:0100886Abnormality of globe location0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0100886HP:0100886Abnormality of globe location0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0100886HP:0100886Abnormality of globe location0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0100886HP:0100886Abnormality of globe location0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0100886HP:0100886Abnormality of globe location0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0100886HP:0100886Abnormality of globe location0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100886HP:0100886Abnormality of globe location0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0100886HP:0100886Abnormality of globe location0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0100886HP:0100886Abnormality of globe location0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0100886HP:0100886Abnormality of globe location0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0100886HP:0100886Abnormality of globe location0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0100886HP:0100886Abnormality of globe location0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0100886HP:0100886Abnormality of globe location0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0100886HP:0100886Abnormality of globe location0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0100886HP:0100886Abnormality of globe location0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0100886HP:0100886Abnormality of globe location0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0100886HP:0100886Abnormality of globe location0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0100886HP:0100886Abnormality of globe location0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0100886HP:0100886Abnormality of globe location0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive512
HP:0100886HP:0100886Abnormality of globe location0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0100886HP:0100886Abnormality of globe location0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0100886HP:0100886Abnormality of globe location0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0100886HP:0100886Abnormality of globe location0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0100886HP:0100886Abnormality of globe location0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0100886HP:0100886Abnormality of globe location0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0100886HP:0100886Abnormality of globe location0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0100886HP:0100886Abnormality of globe location0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0100886HP:0100886Abnormality of globe location0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0100886HP:0100886Abnormality of globe location0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0100886HP:0100886Abnormality of globe location0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0100886HP:0100886Abnormality of globe location0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0100886HP:0100886Abnormality of globe location0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0100886HP:0100886Abnormality of globe location0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0100886HP:0100886Abnormality of globe location0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0100886HP:0100886Abnormality of globe location0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0100886HP:0100886Abnormality of globe location0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0100886HP:0100886Abnormality of globe location0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0100886HP:0100886Abnormality of globe location0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0100886HP:0100886Abnormality of globe location0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0100886HP:0100886Abnormality of globe location0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0100886HP:0100886Abnormality of globe location0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0100886HP:0100886Abnormality of globe location0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0100886HP:0100886Abnormality of globe location0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0100886HP:0100886Abnormality of globe location0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0100886HP:0100886Abnormality of globe location0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0100886HP:0100886Abnormality of globe location0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0100886HP:0100886Abnormality of globe location0AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type22
HP:0100886HP:0100886Abnormality of globe location0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0100886HP:0100886Abnormality of globe location0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0100886HP:0100886Abnormality of globe location0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0100886HP:0100886Abnormality of globe location0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0100886HP:0100886Abnormality of globe location0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0100886HP:0100886Abnormality of globe location0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0100886HP:0100886Abnormality of globe location0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0100886HP:0100886Abnormality of globe location0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0100886HP:0100886Abnormality of globe location0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0100886HP:0100886Abnormality of globe location0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0100886HP:0100886Abnormality of globe location0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0100886HP:0100886Abnormality of globe location0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0100886HP:0100886Abnormality of globe location0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0100886HP:0100886Abnormality of globe location0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0100886HP:0100886Abnormality of globe location0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100886HP:0100886Abnormality of globe location0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0100886HP:0100886Abnormality of globe location0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0100886HP:0100886Abnormality of globe location0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0100886HP:0100886Abnormality of globe location0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0100886HP:0100886Abnormality of globe location0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0100886HP:0100886Abnormality of globe location0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0100886HP:0100886Abnormality of globe location0BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome7
HP:0100886HP:0100886Abnormality of globe location0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0100886HP:0100886Abnormality of globe location0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0100886HP:0100886Abnormality of globe location0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0100886HP:0100886Abnormality of globe location0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0100886HP:0100886Abnormality of globe location0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0100886HP:0100886Abnormality of globe location0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0100886HP:0100886Abnormality of globe location0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valve22
HP:0100886HP:0100886Abnormality of globe location0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type
HP:0100886HP:0100886Abnormality of globe location0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0100886HP:0100886Abnormality of globe location0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0100886HP:0100886Abnormality of globe location0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0100886HP:0100886Abnormality of globe location0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0100886HP:0100886Abnormality of globe location0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0100886HP:0100886Abnormality of globe location0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0100886HP:0100886Abnormality of globe location0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0100886HP:0100886Abnormality of globe location0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0100886HP:0100886Abnormality of globe location0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0100886HP:0100886Abnormality of globe location0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0100886HP:0100886Abnormality of globe location0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0100886HP:0100886Abnormality of globe location0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0100886HP:0100886Abnormality of globe location0CACNA1C CL E G H7751390OMIM:620029572
HP:0100886HP:0100886Abnormality of globe location0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits32
HP:0100886HP:0100886Abnormality of globe location0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0100886HP:0100886Abnormality of globe location0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100886HP:0100886Abnormality of globe location0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0100886HP:0100886Abnormality of globe location0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0100886HP:0100886Abnormality of globe location0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0100886HP:0100886Abnormality of globe location0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0100886HP:0100886Abnormality of globe location0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100886HP:0100886Abnormality of globe location0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100886HP:0100886Abnormality of globe location0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0100886HP:0100886Abnormality of globe location0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0100886HP:0100886Abnormality of globe location0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0100886HP:0100886Abnormality of globe location0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0100886HP:0100886Abnormality of globe location0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0100886HP:0100886Abnormality of globe location0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0100886HP:0100886Abnormality of globe location0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0100886HP:0100886Abnormality of globe location0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0100886HP:0100886Abnormality of globe location0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0100886HP:0100886Abnormality of globe location0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0100886HP:0100886Abnormality of globe location0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 233
HP:0100886HP:0100886Abnormality of globe location0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0100886HP:0100886Abnormality of globe location0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0100886HP:0100886Abnormality of globe location0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0100886HP:0100886Abnormality of globe location0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies3
HP:0100886HP:0100886Abnormality of globe location0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0100886HP:0100886Abnormality of globe location0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0100886HP:0100886Abnormality of globe location0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0100886HP:0100886Abnormality of globe location0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0100886HP:0100886Abnormality of globe location0CDC42BPB CL E G H95781738OMIM:619841
HP:0100886HP:0100886Abnormality of globe location0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0100886HP:0100886Abnormality of globe location0CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0100886HP:0100886Abnormality of globe location0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0100886HP:0100886Abnormality of globe location0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndrome1003
HP:0100886HP:0100886Abnormality of globe location0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 11003
HP:0100886HP:0100886Abnormality of globe location0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0100886HP:0100886Abnormality of globe location0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0100886HP:0100886Abnormality of globe location0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0100886HP:0100886Abnormality of globe location0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100886HP:0100886Abnormality of globe location0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0100886HP:0100886Abnormality of globe location0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0100886HP:0100886Abnormality of globe location0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0100886HP:0100886Abnormality of globe location0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0100886HP:0100886Abnormality of globe location0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0100886HP:0100886Abnormality of globe location0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0100886HP:0100886Abnormality of globe location0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0100886HP:0100886Abnormality of globe location0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0100886HP:0100886Abnormality of globe location0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0100886HP:0100886Abnormality of globe location0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0100886HP:0100886Abnormality of globe location0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0100886HP:0100886Abnormality of globe location0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0100886HP:0100886Abnormality of globe location0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0100886HP:0100886Abnormality of globe location0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0100886HP:0100886Abnormality of globe location0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0100886HP:0100886Abnormality of globe location0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100886HP:0100886Abnormality of globe location0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0100886HP:0100886Abnormality of globe location0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0100886HP:0100886Abnormality of globe location0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0100886HP:0100886Abnormality of globe location0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0100886HP:0100886Abnormality of globe location0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0100886HP:0100886Abnormality of globe location0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0100886HP:0100886Abnormality of globe location0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0100886HP:0100886Abnormality of globe location0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndrome68
HP:0100886HP:0100886Abnormality of globe location0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0100886HP:0100886Abnormality of globe location0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0100886HP:0100886Abnormality of globe location0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0100886HP:0100886Abnormality of globe location0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0100886HP:0100886Abnormality of globe location0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasia165
HP:0100886HP:0100886Abnormality of globe location0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0100886HP:0100886Abnormality of globe location0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0100886HP:0100886Abnormality of globe location0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0100886HP:0100886Abnormality of globe location0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100886HP:0100886Abnormality of globe location0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0100886HP:0100886Abnormality of globe location0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0100886HP:0100886Abnormality of globe location0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0100886HP:0100886Abnormality of globe location0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0100886HP:0100886Abnormality of globe location0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0100886HP:0100886Abnormality of globe location0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0100886HP:0100886Abnormality of globe location0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0100886HP:0100886Abnormality of globe location0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0100886HP:0100886Abnormality of globe location0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0100886HP:0100886Abnormality of globe location0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0100886HP:0100886Abnormality of globe location0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0100886HP:0100886Abnormality of globe location0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0100886HP:0100886Abnormality of globe location0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100886HP:0100886Abnormality of globe location0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0100886HP:0100886Abnormality of globe location0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0100886HP:0100886Abnormality of globe location0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0100886HP:0100886Abnormality of globe location0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type67
HP:0100886HP:0100886Abnormality of globe location0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome67
HP:0100886HP:0100886Abnormality of globe location0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0100886HP:0100886Abnormality of globe location0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0100886HP:0100886Abnormality of globe location0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0100886HP:0100886Abnormality of globe location0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0100886HP:0100886Abnormality of globe location0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0100886HP:0100886Abnormality of globe location0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0100886HP:0100886Abnormality of globe location0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0100886HP:0100886Abnormality of globe location0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0100886HP:0100886Abnormality of globe location0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0100886HP:0100886Abnormality of globe location0COL1A1 CL E G H12772197ORPHA:1310Caffey disease373
HP:0100886HP:0100886Abnormality of globe location0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0100886HP:0100886Abnormality of globe location0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0100886HP:0100886Abnormality of globe location0COL27A1 CL E G H8530122986OMIM:615155Steel syndrome1
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0100886HP:0100886Abnormality of globe location0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1284
HP:0100886HP:0100886Abnormality of globe location0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0100886HP:0100886Abnormality of globe location0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100886HP:0100886Abnormality of globe location0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100886HP:0100886Abnormality of globe location0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0100886HP:0100886Abnormality of globe location0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0100886HP:0100886Abnormality of globe location0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0100886HP:0100886Abnormality of globe location0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0100886HP:0100886Abnormality of globe location0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0100886HP:0100886Abnormality of globe location0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0100886HP:0100886Abnormality of globe location0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0100886HP:0100886Abnormality of globe location0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 26
HP:0100886HP:0100886Abnormality of globe location0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0100886HP:0100886Abnormality of globe location0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0100886HP:0100886Abnormality of globe location0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100886HP:0100886Abnormality of globe location0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0100886HP:0100886Abnormality of globe location0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0100886HP:0100886Abnormality of globe location0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0100886HP:0100886Abnormality of globe location0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0100886HP:0100886Abnormality of globe location0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0100886HP:0100886Abnormality of globe location0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0100886HP:0100886Abnormality of globe location0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100886HP:0100886Abnormality of globe location0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0100886HP:0100886Abnormality of globe location0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0100886HP:0100886Abnormality of globe location0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0100886HP:0100886Abnormality of globe location0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0100886HP:0100886Abnormality of globe location0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII124
HP:0100886HP:0100886Abnormality of globe location0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0100886HP:0100886Abnormality of globe location0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0100886HP:0100886Abnormality of globe location0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0100886HP:0100886Abnormality of globe location0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0100886HP:0100886Abnormality of globe location0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2
HP:0100886HP:0100886Abnormality of globe location0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0100886HP:0100886Abnormality of globe location0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0100886HP:0100886Abnormality of globe location0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0100886HP:0100886Abnormality of globe location0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0100886HP:0100886Abnormality of globe location0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0100886HP:0100886Abnormality of globe location0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndrome
HP:0100886HP:0100886Abnormality of globe location0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2
HP:0100886HP:0100886Abnormality of globe location0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0100886HP:0100886Abnormality of globe location0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0100886HP:0100886Abnormality of globe location0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0100886HP:0100886Abnormality of globe location0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0100886HP:0100886Abnormality of globe location0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0100886HP:0100886Abnormality of globe location0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0100886HP:0100886Abnormality of globe location0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome5
HP:0100886HP:0100886Abnormality of globe location0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100886HP:0100886Abnormality of globe location0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0100886HP:0100886Abnormality of globe location0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0100886HP:0100886Abnormality of globe location0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0100886HP:0100886Abnormality of globe location0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100886HP:0100886Abnormality of globe location0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0100886HP:0100886Abnormality of globe location0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0100886HP:0100886Abnormality of globe location0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0100886HP:0100886Abnormality of globe location0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100886HP:0100886Abnormality of globe location0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100886HP:0100886Abnormality of globe location0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0100886HP:0100886Abnormality of globe location0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0100886HP:0100886Abnormality of globe location0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor670
HP:0100886HP:0100886Abnormality of globe location0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0100886HP:0100886Abnormality of globe location0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0100886HP:0100886Abnormality of globe location0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0100886HP:0100886Abnormality of globe location0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0100886HP:0100886Abnormality of globe location0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0100886HP:0100886Abnormality of globe location0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0100886HP:0100886Abnormality of globe location0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0100886HP:0100886Abnormality of globe location0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0100886HP:0100886Abnormality of globe location0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0100886HP:0100886Abnormality of globe location0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0100886HP:0100886Abnormality of globe location0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0100886HP:0100886Abnormality of globe location0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0100886HP:0100886Abnormality of globe location0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0100886HP:0100886Abnormality of globe location0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0100886HP:0100886Abnormality of globe location0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0100886HP:0100886Abnormality of globe location0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0100886HP:0100886Abnormality of globe location0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0100886HP:0100886Abnormality of globe location0DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0100886HP:0100886Abnormality of globe location0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0100886HP:0100886Abnormality of globe location0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0100886HP:0100886Abnormality of globe location0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0100886HP:0100886Abnormality of globe location0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0100886HP:0100886Abnormality of globe location0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0100886HP:0100886Abnormality of globe location0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0100886HP:0100886Abnormality of globe location0DPH5 CL E G H5161124270OMIM:620070
HP:0100886HP:0100886Abnormality of globe location0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0100886HP:0100886Abnormality of globe location0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0100886HP:0100886Abnormality of globe location0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0100886HP:0100886Abnormality of globe location0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0100886HP:0100886Abnormality of globe location0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndrome144
HP:0100886HP:0100886Abnormality of globe location0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0100886HP:0100886Abnormality of globe location0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886HP:0100886Abnormality of globe location0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0100886HP:0100886Abnormality of globe location0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0100886HP:0100886Abnormality of globe location0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0100886HP:0100886Abnormality of globe location0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0100886HP:0100886Abnormality of globe location0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0100886HP:0100886Abnormality of globe location0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0100886HP:0100886Abnormality of globe location0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0100886HP:0100886Abnormality of globe location0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0100886HP:0100886Abnormality of globe location0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0100886HP:0100886Abnormality of globe location0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0100886HP:0100886Abnormality of globe location0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0100886HP:0100886Abnormality of globe location0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0100886HP:0100886Abnormality of globe location0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0100886HP:0100886Abnormality of globe location0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0100886HP:0100886Abnormality of globe location0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100886HP:0100886Abnormality of globe location0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0100886HP:0100886Abnormality of globe location0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0100886HP:0100886Abnormality of globe location0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0100886HP:0100886Abnormality of globe location0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0100886HP:0100886Abnormality of globe location0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB45
HP:0100886HP:0100886Abnormality of globe location0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0100886HP:0100886Abnormality of globe location0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0100886HP:0100886Abnormality of globe location0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0100886HP:0100886Abnormality of globe location0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0100886HP:0100886Abnormality of globe location0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0100886HP:0100886Abnormality of globe location0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0100886HP:0100886Abnormality of globe location0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous3
HP:0100886HP:0100886Abnormality of globe location0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0100886HP:0100886Abnormality of globe location0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0100886HP:0100886Abnormality of globe location0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0100886HP:0100886Abnormality of globe location0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0100886HP:0100886Abnormality of globe location0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100886HP:0100886Abnormality of globe location0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0100886HP:0100886Abnormality of globe location0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0100886HP:0100886Abnormality of globe location0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0100886HP:0100886Abnormality of globe location0EPG5 CL E G H5772429331ORPHA:1493Vici syndrome40
HP:0100886HP:0100886Abnormality of globe location0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0100886HP:0100886Abnormality of globe location0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0100886HP:0100886Abnormality of globe location0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100886HP:0100886Abnormality of globe location0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100886HP:0100886Abnormality of globe location0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0100886HP:0100886Abnormality of globe location0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0100886HP:0100886Abnormality of globe location0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F158
HP:0100886HP:0100886Abnormality of globe location0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0100886HP:0100886Abnormality of globe location0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0100886HP:0100886Abnormality of globe location0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0100886HP:0100886Abnormality of globe location0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100886HP:0100886Abnormality of globe location0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0100886HP:0100886Abnormality of globe location0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0100886HP:0100886Abnormality of globe location0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0100886HP:0100886Abnormality of globe location0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100886HP:0100886Abnormality of globe location0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0100886HP:0100886Abnormality of globe location0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0100886HP:0100886Abnormality of globe location0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0100886HP:0100886Abnormality of globe location0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0100886HP:0100886Abnormality of globe location0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0100886HP:0100886Abnormality of globe location0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly92
HP:0100886HP:0100886Abnormality of globe location0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndrome92
HP:0100886HP:0100886Abnormality of globe location0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100886HP:0100886Abnormality of globe location0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100886HP:0100886Abnormality of globe location0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0100886HP:0100886Abnormality of globe location0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0100886HP:0100886Abnormality of globe location0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0100886HP:0100886Abnormality of globe location0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0100886HP:0100886Abnormality of globe location0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0100886HP:0100886Abnormality of globe location0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0100886HP:0100886Abnormality of globe location0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0100886HP:0100886Abnormality of globe location0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndrome102
HP:0100886HP:0100886Abnormality of globe location0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0100886HP:0100886Abnormality of globe location0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0100886HP:0100886Abnormality of globe location0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0100886HP:0100886Abnormality of globe location0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0100886HP:0100886Abnormality of globe location0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0100886HP:0100886Abnormality of globe location0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0100886HP:0100886Abnormality of globe location0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0100886HP:0100886Abnormality of globe location0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0100886HP:0100886Abnormality of globe location0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0100886HP:0100886Abnormality of globe location0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0100886HP:0100886Abnormality of globe location0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0100886HP:0100886Abnormality of globe location0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0100886HP:0100886Abnormality of globe location0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0100886HP:0100886Abnormality of globe location0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0100886HP:0100886Abnormality of globe location0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0100886HP:0100886Abnormality of globe location0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0100886HP:0100886Abnormality of globe location0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0100886HP:0100886Abnormality of globe location0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0100886HP:0100886Abnormality of globe location0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0100886HP:0100886Abnormality of globe location0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0100886HP:0100886Abnormality of globe location0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0100886HP:0100886Abnormality of globe location0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0100886HP:0100886Abnormality of globe location0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0100886HP:0100886Abnormality of globe location0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0100886HP:0100886Abnormality of globe location0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0100886HP:0100886Abnormality of globe location0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0100886HP:0100886Abnormality of globe location0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0100886HP:0100886Abnormality of globe location0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0100886HP:0100886Abnormality of globe location0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0100886HP:0100886Abnormality of globe location0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0100886HP:0100886Abnormality of globe location0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0100886HP:0100886Abnormality of globe location0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0100886HP:0100886Abnormality of globe location0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0100886HP:0100886Abnormality of globe location0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0100886HP:0100886Abnormality of globe location0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0100886HP:0100886Abnormality of globe location0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateral2
HP:0100886HP:0100886Abnormality of globe location0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0100886HP:0100886Abnormality of globe location0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0100886HP:0100886Abnormality of globe location0FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 375
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephaly172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0100886HP:0100886Abnormality of globe location0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray type175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndrome145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephaly145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0100886HP:0100886Abnormality of globe location0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0100886HP:0100886Abnormality of globe location0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0100886HP:0100886Abnormality of globe location0FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0100886HP:0100886Abnormality of globe location0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0100886HP:0100886Abnormality of globe location0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome2
HP:0100886HP:0100886Abnormality of globe location0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0100886HP:0100886Abnormality of globe location0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0100886HP:0100886Abnormality of globe location0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0100886HP:0100886Abnormality of globe location0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0100886HP:0100886Abnormality of globe location0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0100886HP:0100886Abnormality of globe location0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0100886HP:0100886Abnormality of globe location0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linked493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndrome493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia493
HP:0100886HP:0100886Abnormality of globe location0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0100886HP:0100886Abnormality of globe location0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type I233
HP:0100886HP:0100886Abnormality of globe location0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0100886HP:0100886Abnormality of globe location0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0100886HP:0100886Abnormality of globe location0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0100886HP:0100886Abnormality of globe location0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0100886HP:0100886Abnormality of globe location0FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0100886HP:0100886Abnormality of globe location0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0100886HP:0100886Abnormality of globe location0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0100886HP:0100886Abnormality of globe location0FOCAD CL E G H5491423377OMIM:6199913
HP:0100886HP:0100886Abnormality of globe location0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0100886HP:0100886Abnormality of globe location0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0100886HP:0100886Abnormality of globe location0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0100886HP:0100886Abnormality of globe location0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0100886HP:0100886Abnormality of globe location0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0100886HP:0100886Abnormality of globe location0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0100886HP:0100886Abnormality of globe location0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0100886HP:0100886Abnormality of globe location0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0100886HP:0100886Abnormality of globe location0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0100886HP:0100886Abnormality of globe location0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0100886HP:0100886Abnormality of globe location0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0100886HP:0100886Abnormality of globe location0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0100886HP:0100886Abnormality of globe location0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0100886HP:0100886Abnormality of globe location0FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephaly198
HP:0100886HP:0100886Abnormality of globe location0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome198
HP:0100886HP:0100886Abnormality of globe location0FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndrome198
HP:0100886HP:0100886Abnormality of globe location0FREM1 CL E G H15832623399OMIM:614485Trigonocephaly 2198
HP:0100886HP:0100886Abnormality of globe location0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0100886HP:0100886Abnormality of globe location0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0100886HP:0100886Abnormality of globe location0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0100886HP:0100886Abnormality of globe location0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0100886HP:0100886Abnormality of globe location0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0100886HP:0100886Abnormality of globe location0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0100886HP:0100886Abnormality of globe location0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100886HP:0100886Abnormality of globe location0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0100886HP:0100886Abnormality of globe location0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0100886HP:0100886Abnormality of globe location0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0100886HP:0100886Abnormality of globe location0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0100886HP:0100886Abnormality of globe location0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0100886HP:0100886Abnormality of globe location0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0100886HP:0100886Abnormality of globe location0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia137
HP:0100886HP:0100886Abnormality of globe location0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0100886HP:0100886Abnormality of globe location0GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0100886HP:0100886Abnormality of globe location0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0100886HP:0100886Abnormality of globe location0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0100886HP:0100886Abnormality of globe location0GATA6 CL E G H26274174OMIM:217095Conotruncal heart malformations37
HP:0100886HP:0100886Abnormality of globe location0GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0100886HP:0100886Abnormality of globe location0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0100886HP:0100886Abnormality of globe location0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0100886HP:0100886Abnormality of globe location0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0100886HP:0100886Abnormality of globe location0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0100886HP:0100886Abnormality of globe location0GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0100886HP:0100886Abnormality of globe location0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateral1
HP:0100886HP:0100886Abnormality of globe location0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasia68
HP:0100886HP:0100886Abnormality of globe location0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0100886HP:0100886Abnormality of globe location0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0100886HP:0100886Abnormality of globe location0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0100886HP:0100886Abnormality of globe location0GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0100886HP:0100886Abnormality of globe location0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0100886HP:0100886Abnormality of globe location0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency13
HP:0100886HP:0100886Abnormality of globe location0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0100886HP:0100886Abnormality of globe location0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 145
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0100886HP:0100886Abnormality of globe location0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0100886HP:0100886Abnormality of globe location0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0100886HP:0100886Abnormality of globe location0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0100886HP:0100886Abnormality of globe location0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0100886HP:0100886Abnormality of globe location0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100886HP:0100886Abnormality of globe location0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0100886HP:0100886Abnormality of globe location0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100886HP:0100886Abnormality of globe location0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0100886HP:0100886Abnormality of globe location0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0100886HP:0100886Abnormality of globe location0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0100886HP:0100886Abnormality of globe location0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0100886HP:0100886Abnormality of globe location0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0100886HP:0100886Abnormality of globe location0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0100886HP:0100886Abnormality of globe location0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0100886HP:0100886Abnormality of globe location0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0100886HP:0100886Abnormality of globe location0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0100886HP:0100886Abnormality of globe location0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0100886HP:0100886Abnormality of globe location0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0100886HP:0100886Abnormality of globe location0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0100886HP:0100886Abnormality of globe location0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0100886HP:0100886Abnormality of globe location0GPC4 CL E G H22394452OMIM:301026Keipert syndrome
HP:0100886HP:0100886Abnormality of globe location0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0100886HP:0100886Abnormality of globe location0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0100886HP:0100886Abnormality of globe location0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0100886HP:0100886Abnormality of globe location0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0100886HP:0100886Abnormality of globe location0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0100886HP:0100886Abnormality of globe location0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0100886HP:0100886Abnormality of globe location0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateral
HP:0100886HP:0100886Abnormality of globe location0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0100886HP:0100886Abnormality of globe location0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0100886HP:0100886Abnormality of globe location0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0100886HP:0100886Abnormality of globe location0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0100886HP:0100886Abnormality of globe location0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100886HP:0100886Abnormality of globe location0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100886HP:0100886Abnormality of globe location0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0100886HP:0100886Abnormality of globe location0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0100886HP:0100886Abnormality of globe location0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0100886HP:0100886Abnormality of globe location0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100886HP:0100886Abnormality of globe location0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0100886HP:0100886Abnormality of globe location0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100886HP:0100886Abnormality of globe location0H4C5 CL E G H83674790OMIM:619950
HP:0100886HP:0100886Abnormality of globe location0H4C9 CL E G H82944793OMIM:619951
HP:0100886HP:0100886Abnormality of globe location0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0100886HP:0100886Abnormality of globe location0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0100886HP:0100886Abnormality of globe location0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0100886HP:0100886Abnormality of globe location0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0100886HP:0100886Abnormality of globe location0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome33
HP:0100886HP:0100886Abnormality of globe location0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0100886HP:0100886Abnormality of globe location0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0100886HP:0100886Abnormality of globe location0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0100886HP:0100886Abnormality of globe location0HEATR3 CL E G H5502726087OMIM:620072
HP:0100886HP:0100886Abnormality of globe location0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0100886HP:0100886Abnormality of globe location0HELLS CL E G H30704861ORPHA:2268ICF syndrome6
HP:0100886HP:0100886Abnormality of globe location0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0100886HP:0100886Abnormality of globe location0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0100886HP:0100886Abnormality of globe location0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0100886HP:0100886Abnormality of globe location0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0100886HP:0100886Abnormality of globe location0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0100886HP:0100886Abnormality of globe location0HID1 CL E G H28398715736OMIM:619983
HP:0100886HP:0100886Abnormality of globe location0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0100886HP:0100886Abnormality of globe location0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0100886HP:0100886Abnormality of globe location0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0100886HP:0100886Abnormality of globe location0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0100886HP:0100886Abnormality of globe location0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0100886HP:0100886Abnormality of globe location0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0100886HP:0100886Abnormality of globe location0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0100886HP:0100886Abnormality of globe location0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0100886HP:0100886Abnormality of globe location0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0100886HP:0100886Abnormality of globe location0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100886HP:0100886Abnormality of globe location0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100886HP:0100886Abnormality of globe location0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital113
HP:0100886HP:0100886Abnormality of globe location0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100886HP:0100886Abnormality of globe location0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0100886HP:0100886Abnormality of globe location0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0100886HP:0100886Abnormality of globe location0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0100886HP:0100886Abnormality of globe location0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0100886HP:0100886Abnormality of globe location0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0100886HP:0100886Abnormality of globe location0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0100886HP:0100886Abnormality of globe location0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0100886HP:0100886Abnormality of globe location0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0100886HP:0100886Abnormality of globe location0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0100886HP:0100886Abnormality of globe location0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0100886HP:0100886Abnormality of globe location0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0100886HP:0100886Abnormality of globe location0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0100886HP:0100886Abnormality of globe location0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0100886HP:0100886Abnormality of globe location0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0100886HP:0100886Abnormality of globe location0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0100886HP:0100886Abnormality of globe location0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0100886HP:0100886Abnormality of globe location0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0100886HP:0100886Abnormality of globe location0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0100886HP:0100886Abnormality of globe location0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0100886HP:0100886Abnormality of globe location0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0100886HP:0100886Abnormality of globe location0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0100886HP:0100886Abnormality of globe location0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0100886HP:0100886Abnormality of globe location0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0100886HP:0100886Abnormality of globe location0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0100886HP:0100886Abnormality of globe location0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0100886HP:0100886Abnormality of globe location0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0100886HP:0100886Abnormality of globe location0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0100886HP:0100886Abnormality of globe location0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0100886HP:0100886Abnormality of globe location0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0100886HP:0100886Abnormality of globe location0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0100886HP:0100886Abnormality of globe location0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0100886HP:0100886Abnormality of globe location0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100886HP:0100886Abnormality of globe location0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0100886HP:0100886Abnormality of globe location0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100886HP:0100886Abnormality of globe location0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0100886HP:0100886Abnormality of globe location0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0100886HP:0100886Abnormality of globe location0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0100886HP:0100886Abnormality of globe location0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0100886HP:0100886Abnormality of globe location0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0100886HP:0100886Abnormality of globe location0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0100886HP:0100886Abnormality of globe location0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateral4
HP:0100886HP:0100886Abnormality of globe location0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0100886HP:0100886Abnormality of globe location0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0100886HP:0100886Abnormality of globe location0JAG1 CL E G H1826188ORPHA:3303