Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormality of corneal size (HP:0001120)help
Term ID: 1120
Name: Abnormality of corneal size
Synonym:
Definition: Any abnormality of the size or morphology of the cornea.
Comments:
Reference: HP:0001120
Genes and Diseases:
 
       Child Nodes:
........expandMicrocornea (HP:0000482) help
........expandMegalocornea (HP:0000485) help
........expandCorneal asymmetry (HP:0009915) help

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormal corneal limbus morphology (HP:0025348) help
..expandAbnormal corneal stroma morphology (HP:0011492) help
..expandAbnormal line of Schwalbe morphology (HP:0008048) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) 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:0001120HP:0001120Abnormality of corneal size0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0001120HP:0001120Abnormality of corneal size0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0001120HP:0001120Abnormality of corneal size0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus8
HP:0001120HP:0001120Abnormality of corneal size0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0001120HP:0001120Abnormality of corneal size0ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0001120HP:0001120Abnormality of corneal size0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0001120HP:0001120Abnormality of corneal size0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0001120HP:0001120Abnormality of corneal size0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0001120HP:0001120Abnormality of corneal size0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0001120HP:0001120Abnormality of corneal size0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0001120HP:0001120Abnormality of corneal size0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0001120HP:0001120Abnormality of corneal size0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0001120HP:0001120Abnormality of corneal size0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0001120HP:0001120Abnormality of corneal size0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0001120HP:0001120Abnormality of corneal size0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001120HP:0001120Abnormality of corneal size0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001120HP:0001120Abnormality of corneal size0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0001120HP:0001120Abnormality of corneal size0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0001120HP:0001120Abnormality of corneal size0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0001120HP:0001120Abnormality of corneal size0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001120HP:0001120Abnormality of corneal size0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0001120HP:0001120Abnormality of corneal size0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001120HP:0001120Abnormality of corneal size0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0001120HP:0001120Abnormality of corneal size0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0001120HP:0001120Abnormality of corneal size0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0001120HP:0001120Abnormality of corneal size0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0001120HP:0001120Abnormality of corneal size0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0001120HP:0001120Abnormality of corneal size0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0001120HP:0001120Abnormality of corneal size0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001120HP:0001120Abnormality of corneal size0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0001120HP:0001120Abnormality of corneal size0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0001120HP:0001120Abnormality of corneal size0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0001120HP:0001120Abnormality of corneal size0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0001120HP:0001120Abnormality of corneal size0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0001120HP:0001120Abnormality of corneal size0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types33
HP:0001120HP:0001120Abnormality of corneal size0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndrome33
HP:0001120HP:0001120Abnormality of corneal size0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndrome10
HP:0001120HP:0001120Abnormality of corneal size0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types18
HP:0001120HP:0001120Abnormality of corneal size0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndrome18
HP:0001120HP:0001120Abnormality of corneal size0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndrome13
HP:0001120HP:0001120Abnormality of corneal size0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types11
HP:0001120HP:0001120Abnormality of corneal size0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndrome11
HP:0001120HP:0001120Abnormality of corneal size0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndrome29
HP:0001120HP:0001120Abnormality of corneal size0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0001120HP:0001120Abnormality of corneal size0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001120HP:0001120Abnormality of corneal size0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0001120HP:0001120Abnormality of corneal size0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0001120HP:0001120Abnormality of corneal size0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0001120HP:0001120Abnormality of corneal size0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0001120HP:0001120Abnormality of corneal size0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0001120HP:0001120Abnormality of corneal size0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001120HP:0001120Abnormality of corneal size0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0001120HP:0001120Abnormality of corneal size0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001120HP:0001120Abnormality of corneal size0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0001120HP:0001120Abnormality of corneal size0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001120HP:0001120Abnormality of corneal size0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0001120HP:0001120Abnormality of corneal size0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001120HP:0001120Abnormality of corneal size0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0001120HP:0001120Abnormality of corneal size0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0001120HP:0001120Abnormality of corneal size0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0001120HP:0001120Abnormality of corneal size0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0001120HP:0001120Abnormality of corneal size0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0001120HP:0001120Abnormality of corneal size0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0001120HP:0001120Abnormality of corneal size0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0001120HP:0001120Abnormality of corneal size0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0001120HP:0001120Abnormality of corneal size0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0001120HP:0001120Abnormality of corneal size0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0001120HP:0001120Abnormality of corneal size0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0001120HP:0001120Abnormality of corneal size0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0001120HP:0001120Abnormality of corneal size0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0001120HP:0001120Abnormality of corneal size0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0001120HP:0001120Abnormality of corneal size0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0001120HP:0001120Abnormality of corneal size0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0001120HP:0001120Abnormality of corneal size0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0001120HP:0001120Abnormality of corneal size0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0001120HP:0001120Abnormality of corneal size0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0001120HP:0001120Abnormality of corneal size0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0001120HP:0001120Abnormality of corneal size0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0001120HP:0001120Abnormality of corneal size0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0001120HP:0001120Abnormality of corneal size0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types34
HP:0001120HP:0001120Abnormality of corneal size0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndrome34
HP:0001120HP:0001120Abnormality of corneal size0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0001120HP:0001120Abnormality of corneal size0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001120HP:0001120Abnormality of corneal size0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0001120HP:0001120Abnormality of corneal size0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001120HP:0001120Abnormality of corneal size0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0001120HP:0001120Abnormality of corneal size0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001120HP:0001120Abnormality of corneal size0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0001120HP:0001120Abnormality of corneal size0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0001120HP:0001120Abnormality of corneal size0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0001120HP:0001120Abnormality of corneal size0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0001120HP:0001120Abnormality of corneal size0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 132
HP:0001120HP:0001120Abnormality of corneal size0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0001120HP:0001120Abnormality of corneal size0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0001120HP:0001120Abnormality of corneal size0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0001120HP:0001120Abnormality of corneal size0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0001120HP:0001120Abnormality of corneal size0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0001120HP:0001120Abnormality of corneal size0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001120HP:0001120Abnormality of corneal size0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0001120HP:0001120Abnormality of corneal size0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0001120HP:0001120Abnormality of corneal size0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0001120HP:0001120Abnormality of corneal size0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0001120HP:0001120Abnormality of corneal size0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0001120HP:0001120Abnormality of corneal size0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0001120HP:0001120Abnormality of corneal size0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0001120HP:0001120Abnormality of corneal size0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001120HP:0001120Abnormality of corneal size0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001120HP:0001120Abnormality of corneal size0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0001120HP:0001120Abnormality of corneal size0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0001120HP:0001120Abnormality of corneal size0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0001120HP:0001120Abnormality of corneal size0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0001120HP:0001120Abnormality of corneal size0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndrome21
HP:0001120HP:0001120Abnormality of corneal size0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0001120HP:0001120Abnormality of corneal size0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0001120HP:0001120Abnormality of corneal size0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0001120HP:0001120Abnormality of corneal size0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0001120HP:0001120Abnormality of corneal size0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0001120HP:0001120Abnormality of corneal size0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0001120HP:0001120Abnormality of corneal size0MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0001120HP:0001120Abnormality of corneal size0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0001120HP:0001120Abnormality of corneal size0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0001120HP:0001120Abnormality of corneal size0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001120HP:0001120Abnormality of corneal size0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0001120HP:0001120Abnormality of corneal size0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0001120HP:0001120Abnormality of corneal size0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001120HP:0001120Abnormality of corneal size0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0001120HP:0001120Abnormality of corneal size0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0001120HP:0001120Abnormality of corneal size0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0001120HP:0001120Abnormality of corneal size0NHS CL E G H48107820ORPHA:627Nance-Horan syndrome88
HP:0001120HP:0001120Abnormality of corneal size0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0001120HP:0001120Abnormality of corneal size0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0001120HP:0001120Abnormality of corneal size0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0001120HP:0001120Abnormality of corneal size0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0001120HP:0001120Abnormality of corneal size0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 541
HP:0001120HP:0001120Abnormality of corneal size0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0001120HP:0001120Abnormality of corneal size0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0001120HP:0001120Abnormality of corneal size0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0001120HP:0001120Abnormality of corneal size0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0001120HP:0001120Abnormality of corneal size0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0001120HP:0001120Abnormality of corneal size0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0001120HP:0001120Abnormality of corneal size0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 16
HP:0001120HP:0001120Abnormality of corneal size0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 211
HP:0001120HP:0001120Abnormality of corneal size0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001120HP:0001120Abnormality of corneal size0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0001120HP:0001120Abnormality of corneal size0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0001120HP:0001120Abnormality of corneal size0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0001120HP:0001120Abnormality of corneal size0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0001120HP:0001120Abnormality of corneal size0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0001120HP:0001120Abnormality of corneal size0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0001120HP:0001120Abnormality of corneal size0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0001120HP:0001120Abnormality of corneal size0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0001120HP:0001120Abnormality of corneal size0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0001120HP:0001120Abnormality of corneal size0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0001120HP:0001120Abnormality of corneal size0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0001120HP:0001120Abnormality of corneal size0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0001120HP:0001120Abnormality of corneal size0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0001120HP:0001120Abnormality of corneal size0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities2
HP:0001120HP:0001120Abnormality of corneal size0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 258
HP:0001120HP:0001120Abnormality of corneal size0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001120HP:0001120Abnormality of corneal size0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 611
HP:0001120HP:0001120Abnormality of corneal size0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0001120HP:0001120Abnormality of corneal size0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0001120HP:0001120Abnormality of corneal size0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0001120HP:0001120Abnormality of corneal size0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0001120HP:0001120Abnormality of corneal size0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001120HP:0001120Abnormality of corneal size0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0001120HP:0001120Abnormality of corneal size0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0001120HP:0001120Abnormality of corneal size0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0001120HP:0001120Abnormality of corneal size0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0001120HP:0001120Abnormality of corneal size0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0001120HP:0001120Abnormality of corneal size0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0001120HP:0001120Abnormality of corneal size0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome8
HP:0001120HP:0001120Abnormality of corneal size0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001120HP:0001120Abnormality of corneal size0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001120HP:0001120Abnormality of corneal size0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0001120HP:0001120Abnormality of corneal size0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0001120HP:0001120Abnormality of corneal size0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0001120HP:0001120Abnormality of corneal size0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0001120HP:0001120Abnormality of corneal size0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0001120HP:0001120Abnormality of corneal size0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0001120HP:0001120Abnormality of corneal size0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0001120HP:0001120Abnormality of corneal size0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001120HP:0001120Abnormality of corneal size0SLC16A12 CL E G H38770023094OMIM:612018CATARACT 47; CTRCT475
HP:0001120HP:0001120Abnormality of corneal size0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0001120HP:0001120Abnormality of corneal size0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0001120HP:0001120Abnormality of corneal size0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001120HP:0001120Abnormality of corneal size0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0001120HP:0001120Abnormality of corneal size0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001120HP:0001120Abnormality of corneal size0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0001120HP:0001120Abnormality of corneal size0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0001120HP:0001120Abnormality of corneal size0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0001120HP:0001120Abnormality of corneal size0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndrome28
HP:0001120HP:0001120Abnormality of corneal size0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0001120HP:0001120Abnormality of corneal size0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0001120HP:0001120Abnormality of corneal size0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0001120HP:0001120Abnormality of corneal size0TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E78
HP:0001120HP:0001120Abnormality of corneal size0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 912
HP:0001120HP:0001120Abnormality of corneal size0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0001120HP:0001120Abnormality of corneal size0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0001120HP:0001120Abnormality of corneal size0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0001120HP:0001120Abnormality of corneal size0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0001120HP:0001120Abnormality of corneal size0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0001120HP:0001120Abnormality of corneal size0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0001120HP:0001120Abnormality of corneal size0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0001120HP:0001120Abnormality of corneal size0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0001120HP:0001120Abnormality of corneal size0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0001120HP:0001120Abnormality of corneal size0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0001120HP:0001120Abnormality of corneal size0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0001120HP:0001120Abnormality of corneal size0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman type13
HP:0001120HP:0001120Abnormality of corneal size0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0001120HP:0001120Abnormality of corneal size0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0001120HP:0001120Abnormality of corneal size0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0001120HP:0001120Abnormality of corneal size0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0001120HP:0009915Corneal asymmetry1 CL E G H
HP:0001120HP:0000482Microcornea1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0001120HP:0000482Microcornea1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0001120HP:0000482Microcornea1ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus.8
HP:0001120HP:0000482Microcornea1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001120HP:0000482Microcornea1ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0001120HP:0000482Microcornea1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0001120HP:0000482Microcornea1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0001120HP:0000482Microcornea1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0001120HP:0000482Microcornea1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0001120HP:0000482Microcornea1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0001120HP:0000482Microcornea1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0001120HP:0000482Microcornea1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0001120HP:0000482Microcornea1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0001120HP:0000485Megalocornea1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000485Megalocornea1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0001120HP:0000482Microcornea1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0001120HP:0000482Microcornea1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0001120HP:0000482Microcornea1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040281 - Very frequent101
HP:0001120HP:0000482Microcornea1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0001120HP:0000482Microcornea1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0001120HP:0000482Microcornea1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001120HP:0000482Microcornea1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0001120HP:0000485Megalocornea1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0001120HP:0000485Megalocornea1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0001120HP:0000482Microcornea1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0001120HP:0000482Microcornea1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0001120HP:0000482Microcornea1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001120HP:0000485Megalocornea1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0001120HP:0000482Microcornea1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001120HP:0000485Megalocornea1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000485Megalocornea1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0001120HP:0000482Microcornea1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0001120HP:0000482Microcornea1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0001120HP:0000485Megalocornea1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0001120HP:0000482Microcornea1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple typesHP:0040283 - Occasional33
HP:0001120HP:0000482Microcornea1CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent33
HP:0001120HP:0000482Microcornea1CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent10
HP:0001120HP:0000482Microcornea1CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple typesHP:0040283 - Occasional18
HP:0001120HP:0000482Microcornea1CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent18
HP:0001120HP:0000482Microcornea1CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent13
HP:0001120HP:0000482Microcornea1CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple typesHP:0040283 - Occasional11
HP:0001120HP:0000482Microcornea1CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent11
HP:0001120HP:0000482Microcornea1CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent29
HP:0001120HP:0000482Microcornea1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0001120HP:0000485Megalocornea1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0001120HP:0000482Microcornea1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0001120HP:0000482Microcornea1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001120HP:0000482Microcornea1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040283 - Occasional17
HP:0001120HP:0000485Megalocornea1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0001120HP:0000482Microcornea1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0001120HP:0000482Microcornea1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0001120HP:0000485Megalocornea1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001120HP:0000482Microcornea1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0001120HP:0000485Megalocornea1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000485Megalocornea1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001120HP:0000482Microcornea1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001120HP:0000482Microcornea1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0001120HP:0000482Microcornea1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001120HP:0000482Microcornea1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0001120HP:0000482Microcornea1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001120HP:0000482Microcornea1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0001120HP:0000482Microcornea1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0001120HP:0000485Megalocornea1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001120HP:0000485Megalocornea1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0001120HP:0000482Microcornea1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0001120HP:0000485Megalocornea1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0001120HP:0000482Microcornea1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040284 - Very rare13
HP:0001120HP:0000485Megalocornea1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000485Megalocornea1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0001120HP:0000485Megalocornea1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0001120HP:0000482Microcornea1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0001120HP:0000485Megalocornea1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0001120HP:0000482Microcornea1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0001120HP:0000482Microcornea1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0001120HP:0000482Microcornea1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0001120HP:0000482Microcornea1FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0001120HP:0000482Microcornea1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0001120HP:0000482Microcornea1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0001120HP:0000482Microcornea1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0001120HP:0000482Microcornea1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001120HP:0000482Microcornea1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001120HP:0000482Microcornea1GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple typesHP:0040283 - Occasional34
HP:0001120HP:0000482Microcornea1GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent34
HP:0001120HP:0000485Megalocornea1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0001120HP:0000485Megalocornea1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001120HP:0000482Microcornea1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001120HP:0000482Microcornea1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001120HP:0000482Microcornea1GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitiveHP:0040283 - Occasional2
HP:0001120HP:0000482Microcornea1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001120HP:0000485Megalocornea1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001120HP:0000485Megalocornea1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001120HP:0000485Megalocornea1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001120HP:0000482Microcornea1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0001120HP:0000482Microcornea1HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0001120HP:0000482Microcornea1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0001120HP:0000482Microcornea1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001120HP:0000482Microcornea1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001120HP:0000482Microcornea1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0001120HP:0000482Microcornea1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001120HP:0000485Megalocornea1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001120HP:0000482Microcornea1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0001120HP:0000482Microcornea1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0001120HP:0000485Megalocornea1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0001120HP:0000482Microcornea1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0001120HP:0000482Microcornea1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0001120HP:0000485Megalocornea1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0001120HP:0000482Microcornea1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0001120HP:0000485Megalocornea1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0001120HP:0000485Megalocornea1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0001120HP:0000485Megalocornea1LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0001120HP:0000482Microcornea1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0001120HP:0000485Megalocornea1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0001120HP:0000482Microcornea1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0001120HP:0000482Microcornea1MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent21
HP:0001120HP:0000482Microcornea1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001120HP:0000482Microcornea1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0001120HP:0000482Microcornea1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0001120HP:0000482Microcornea1MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0001120HP:0000482Microcornea1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0001120HP:0000485Megalocornea1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001120HP:0000482Microcornea1MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0001120HP:0000482Microcornea1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0001120HP:0000485Megalocornea1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001120HP:0000482Microcornea1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001120HP:0000482Microcornea1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0001120HP:0000482Microcornea1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0001120HP:0000482Microcornea1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0001120HP:0000485Megalocornea1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001120HP:0000482Microcornea1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0001120HP:0000485Megalocornea1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040281 - Very frequent88
HP:0001120HP:0000482Microcornea1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0001120HP:0000482Microcornea1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0001120HP:0000482Microcornea1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0001120HP:0000485Megalocornea1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0001120HP:0000482Microcornea1OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0001120HP:0000482Microcornea1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0001120HP:0000482Microcornea1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040283 - Occasional194
HP:0001120HP:0000485Megalocornea1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0001120HP:0000485Megalocornea1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0001120HP:0000485Megalocornea1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0001120HP:0000482Microcornea1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0001120HP:0000485Megalocornea1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0001120HP:0000482Microcornea1PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0001120HP:0000482Microcornea1PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0001120HP:0000482Microcornea1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001120HP:0000482Microcornea1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0001120HP:0000485Megalocornea1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0001120HP:0000485Megalocornea1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001120HP:0000482Microcornea1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0001120HP:0000482Microcornea1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0001120HP:0000485Megalocornea1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0001120HP:0000482Microcornea1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0001120HP:0000485Megalocornea1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0001120HP:0000485Megalocornea1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0001120HP:0000482Microcornea1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0001120HP:0000485Megalocornea1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0001120HP:0000485Megalocornea1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0001120HP:0000482Microcornea1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0001120HP:0000485Megalocornea1PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0001120HP:0000485Megalocornea1PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2HP:0040283 - Occasional58
HP:0001120HP:0000482Microcornea1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001120HP:0000482Microcornea1PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6HP:0040283 - Occasional11
HP:0001120HP:0000482Microcornea1PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0001120HP:0000482Microcornea1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001120HP:0000482Microcornea1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0001120HP:0000482Microcornea1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0001120HP:0000482Microcornea1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001120HP:0000482Microcornea1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0001120HP:0000482Microcornea1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0001120HP:0000482Microcornea1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0001120HP:0000482Microcornea1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0001120HP:0000482Microcornea1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0001120HP:0000482Microcornea1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0001120HP:0000482Microcornea1RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndromeHP:0040283 - Occasional8
HP:0001120HP:0000482Microcornea1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001120HP:0000485Megalocornea1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001120HP:0000482Microcornea1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0001120HP:0000482Microcornea1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0001120HP:0000482Microcornea1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0001120HP:0000482Microcornea1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0001120HP:0000482Microcornea1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001120HP:0000482Microcornea1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001120HP:0000485Megalocornea1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001120HP:0000482Microcornea1SLC16A12 CL E G H38770023094OMIM:612018CATARACT 47; CTRCT475
HP:0001120HP:0000482Microcornea1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0001120HP:0000482Microcornea1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0001120HP:0000485Megalocornea1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0001120HP:0000482Microcornea1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001120HP:0000482Microcornea1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0001120HP:0000482Microcornea1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0001120HP:0000485Megalocornea1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001120HP:0000482Microcornea1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040283 - Occasional28
HP:0001120HP:0000482Microcornea1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001120HP:0000482Microcornea1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0001120HP:0000482Microcornea1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0001120HP:0000485Megalocornea1TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E.78
HP:0001120HP:0000482Microcornea1TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0001120HP:0000482Microcornea1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0001120HP:0000485Megalocornea1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001120HP:0000482Microcornea1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0001120HP:0000482Microcornea1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001120HP:0000482Microcornea1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0001120HP:0000482Microcornea1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0001120HP:0000485Megalocornea1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0001120HP:0000482Microcornea1TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0001120HP:0000482Microcornea1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0001120HP:0000482Microcornea1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0001120HP:0000482Microcornea1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0001120HP:0000482Microcornea1UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0001120HP:0000485Megalocornea1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001120HP:0000482Microcornea1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0001120HP:0000482Microcornea1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0001120HP:0000482Microcornea1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362


Genes (177) :ACTB ACTG1 ADAMTS18 ANK1 ARL2 ATOH7 B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCL7B BCOR BEST1 BMP4 BRD4 BUD23 CARS1 CC2D2A CDH11 CENPF CEP290 CHN1 CHRDL1 CHST14 CLIP2 COL11A1 COL4A1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTCF CTDP1 CYTB DAG1 DEAF1 DNAJC30 DPYD EBP EIF4H ELN ERCC2 ERCC3 ERCC6 ERCC8 FANCB FBN1 FGD1 FGF3 FGFR2 FKBP14 FKBP6 FKRP FKTN FLI1 FLII FOXE3 FOXL2 FZD4 GJA1 GJA8 GMPPB GNPTAB GORAB GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KCNMA1 KDM6A KIF11 KIFBP KMT2D KRAS LARGE1 LETM1 LIMK1 LMX1B LTBP2 MAB21L2 MAF MAFB MAPRE2 MED25 METTL27 MIR184 MKS1 MLXIPL MPLKIP NAA10 NCF1 NDP NELFA NHS NIPBL NSD2 OTX2 PAX6 PIGG PIK3R1 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2CA PRDM5 PRR12 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBP4 RECQL4 RFC2 RNF113A RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SH3PXD2B SLC16A12 SMC1A SMC3 STX1A TARS1 TBC1D20 TBL1XR1 TBL2 TBX15 TBX22 TCTN1 TCTN2 TCTN3 TEK TENM3 TFAP2A TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TUBB TXNDC15 UBE3B VPS37D WNT3 ZEB2

Diseases (126) :ORPHA:2995 OMIM:615458 ORPHA:251066 OMIM:619082 ORPHA:91495 OMIM:221900 ORPHA:899 ORPHA:536467 ORPHA:709 ORPHA:564 ORPHA:904 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:193220 ORPHA:139471 OMIM:607932 ORPHA:199 ORPHA:33364 OMIM:211380 OMIM:243605 ORPHA:233 OMIM:309300 OMIM:601776 OMIM:228520 OMIM:175780 ORPHA:280 OMIM:604219 ORPHA:1377 OMIM:611544 OMIM:604307 ORPHA:363611 OMIM:604168 ORPHA:48431 ORPHA:137675 ORPHA:819 ORPHA:1675 ORPHA:35173 OMIM:601675 ORPHA:90324 OMIM:133540 ORPHA:3412 ORPHA:284979 ORPHA:915 ORPHA:2791 ORPHA:313855 ORPHA:300179 ORPHA:370959 OMIM:236670 ORPHA:2308 OMIM:610256 OMIM:110100 ORPHA:2710 OMIM:164200 OMIM:257850 OMIM:116200 OMIM:252500 ORPHA:2078 OMIM:616943 OMIM:300915 OMIM:612109 ORPHA:800 OMIM:255800 OMIM:118450 OMIM:618729 ORPHA:2322 OMIM:152950 OMIM:609460 OMIM:600268 OMIM:161200 OMIM:251750 OMIM:615877 ORPHA:1272 OMIM:610202 ORPHA:2505 OMIM:616734 ORPHA:464738 OMIM:616449 OMIM:614303 OMIM:234050 ORPHA:627 OMIM:302350 OMIM:122470 OMIM:610125 OMIM:604229 ORPHA:2334 ORPHA:3163 OMIM:269880 OMIM:180500 OMIM:107250 OMIM:616171 OMIM:225400 ORPHA:1900 OMIM:253280 OMIM:618354 OMIM:614170 OMIM:619539 OMIM:613517 OMIM:269400 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:600118 OMIM:614225 OMIM:615147 OMIM:268400 ORPHA:3301 ORPHA:959 ORPHA:46059 OMIM:249420 OMIM:612018 OMIM:615663 ORPHA:487825 OMIM:602342 OMIM:260660 ORPHA:921 OMIM:617272 OMIM:615145 ORPHA:1297 OMIM:268130 OMIM:156610 OMIM:244450 ORPHA:2707 OMIM:235730 ORPHA:261552
 

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