Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormality of corneal size (HP:0001120)help
..Starting node
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Microcornea (HP:0000482)help
Term ID: 482
Name: Microcornea
Synonym: Cornea of eye less than 10mm in diameter; Decreased corneal diameter
Definition: A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Comments:
Reference: HP:0000482
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal asymmetry (HP:0009915) help
..expandMegalocornea (HP:0000485) 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:0000482HP:0000482Microcornea0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0000482HP:0000482Microcornea0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0000482HP:0000482Microcornea0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus.8
HP:0000482HP:0000482Microcornea0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000482HP:0000482Microcornea0ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000482HP:0000482Microcornea0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000482HP:0000482Microcornea0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000482HP:0000482Microcornea0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000482HP:0000482Microcornea0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000482HP:0000482Microcornea0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000482HP:0000482Microcornea0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000482HP:0000482Microcornea0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000482HP:0000482Microcornea0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000482HP:0000482Microcornea0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000482HP:0000482Microcornea0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000482HP:0000482Microcornea0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000482HP:0000482Microcornea0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040281 - Very frequent101
HP:0000482HP:0000482Microcornea0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000482HP:0000482Microcornea0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0000482HP:0000482Microcornea0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000482HP:0000482Microcornea0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000482HP:0000482Microcornea0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000482HP:0000482Microcornea0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000482HP:0000482Microcornea0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000482HP:0000482Microcornea0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000482HP:0000482Microcornea0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000482HP:0000482Microcornea0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000482HP:0000482Microcornea0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000482HP:0000482Microcornea0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple typesHP:0040283 - Occasional33
HP:0000482HP:0000482Microcornea0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent33
HP:0000482HP:0000482Microcornea0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent10
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple typesHP:0040283 - Occasional18
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent18
HP:0000482HP:0000482Microcornea0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent13
HP:0000482HP:0000482Microcornea0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple typesHP:0040283 - Occasional11
HP:0000482HP:0000482Microcornea0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent11
HP:0000482HP:0000482Microcornea0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent29
HP:0000482HP:0000482Microcornea0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000482HP:0000482Microcornea0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040283 - Occasional17
HP:0000482HP:0000482Microcornea0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000482HP:0000482Microcornea0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000482HP:0000482Microcornea0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000482HP:0000482Microcornea0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0000482HP:0000482Microcornea0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000482HP:0000482Microcornea0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0000482HP:0000482Microcornea0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000482HP:0000482Microcornea0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0000482HP:0000482Microcornea0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000482HP:0000482Microcornea0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0000482HP:0000482Microcornea0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0000482HP:0000482Microcornea0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000482HP:0000482Microcornea0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040284 - Very rare13
HP:0000482HP:0000482Microcornea0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000482HP:0000482Microcornea0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000482HP:0000482Microcornea0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000482HP:0000482Microcornea0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0000482HP:0000482Microcornea0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000482HP:0000482Microcornea0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000482HP:0000482Microcornea0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple typesHP:0040283 - Occasional34
HP:0000482HP:0000482Microcornea0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent34
HP:0000482HP:0000482Microcornea0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0000482HP:0000482Microcornea0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000482HP:0000482Microcornea0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitiveHP:0040283 - Occasional2
HP:0000482HP:0000482Microcornea0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000482HP:0000482Microcornea0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000482HP:0000482Microcornea0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000482HP:0000482Microcornea0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000482HP:0000482Microcornea0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000482HP:0000482Microcornea0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000482HP:0000482Microcornea0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000482HP:0000482Microcornea0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000482HP:0000482Microcornea0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000482HP:0000482Microcornea0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000482HP:0000482Microcornea0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000482HP:0000482Microcornea0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000482HP:0000482Microcornea0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0000482HP:0000482Microcornea0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0000482HP:0000482Microcornea0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndromeHP:0040281 - Very frequent21
HP:0000482HP:0000482Microcornea0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000482HP:0000482Microcornea0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000482HP:0000482Microcornea0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000482HP:0000482Microcornea0MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0000482HP:0000482Microcornea0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000482HP:0000482Microcornea0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000482HP:0000482Microcornea0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0000482HP:0000482Microcornea0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000482HP:0000482Microcornea0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000482HP:0000482Microcornea0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000482HP:0000482Microcornea0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040281 - Very frequent88
HP:0000482HP:0000482Microcornea0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000482HP:0000482Microcornea0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000482HP:0000482Microcornea0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000482HP:0000482Microcornea0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0000482HP:0000482Microcornea0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000482HP:0000482Microcornea0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040283 - Occasional194
HP:0000482HP:0000482Microcornea0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000482HP:0000482Microcornea0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0000482HP:0000482Microcornea0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0000482HP:0000482Microcornea0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000482HP:0000482Microcornea0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000482HP:0000482Microcornea0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000482HP:0000482Microcornea0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000482HP:0000482Microcornea0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000482HP:0000482Microcornea0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000482HP:0000482Microcornea0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6HP:0040283 - Occasional11
HP:0000482HP:0000482Microcornea0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0000482HP:0000482Microcornea0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0000482HP:0000482Microcornea0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0000482HP:0000482Microcornea0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000482HP:0000482Microcornea0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000482HP:0000482Microcornea0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000482HP:0000482Microcornea0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000482HP:0000482Microcornea0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndromeHP:0040283 - Occasional8
HP:0000482HP:0000482Microcornea0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000482HP:0000482Microcornea0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000482HP:0000482Microcornea0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000482HP:0000482Microcornea0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000482HP:0000482Microcornea0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000482HP:0000482Microcornea0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000482HP:0000482Microcornea0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000482HP:0000482Microcornea0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000482HP:0000482Microcornea0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000482HP:0000482Microcornea0SLC16A12 CL E G H38770023094OMIM:612018CATARACT 47; CTRCT475
HP:0000482HP:0000482Microcornea0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000482HP:0000482Microcornea0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000482HP:0000482Microcornea0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000482HP:0000482Microcornea0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000482HP:0000482Microcornea0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000482HP:0000482Microcornea0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0000482HP:0000482Microcornea0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040283 - Occasional28
HP:0000482HP:0000482Microcornea0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000482HP:0000482Microcornea0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000482HP:0000482Microcornea0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000482HP:0000482Microcornea0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000482HP:0000482Microcornea0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0000482HP:0000482Microcornea0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000482HP:0000482Microcornea0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000482HP:0000482Microcornea0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000482HP:0000482Microcornea0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000482HP:0000482Microcornea0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000482HP:0000482Microcornea0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000482HP:0000482Microcornea0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0000482HP:0000482Microcornea0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000482HP:0000482Microcornea0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000482HP:0000482Microcornea0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000482HP:0000482Microcornea0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000482HP:0000482Microcornea0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000482HP:0000482Microcornea0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362


Genes (133) :ACTB ACTG1 ADAMTS18 ANK1 ARL2 ATOH7 B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRD4 CARS1 CC2D2A CENPF CEP290 CHN1 CHST14 COL4A1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTCF CTDP1 DAG1 DEAF1 DPYD EBP ERCC2 ERCC3 ERCC6 ERCC8 FANCB FGF3 FKBP14 FKRP FKTN FLI1 FLII FOXE3 FOXL2 FZD4 GJA1 GJA8 GORAB GTF2E2 GTF2H5 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KDM6A KIF11 KMT2D KRAS LARGE1 LMX1B MAB21L2 MAF MAFB MAPRE2 MED25 MIR184 MKS1 MPLKIP NAA10 NDP NHS NIPBL OTX2 PAX6 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRR12 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBP4 RECQL4 RNF113A RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SLC16A12 SMC1A SMC3 TARS1 TBC1D20 TBL1XR1 TBX15 TBX22 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TUBB TXNDC15 UBE3B WNT3 ZEB2

Diseases (102) :ORPHA:2995 OMIM:615458 ORPHA:251066 OMIM:619082 ORPHA:91495 OMIM:221900 ORPHA:899 ORPHA:536467 ORPHA:709 ORPHA:564 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:193220 ORPHA:139471 OMIM:607932 ORPHA:199 ORPHA:33364 OMIM:243605 ORPHA:233 OMIM:601776 OMIM:175780 OMIM:604219 ORPHA:1377 OMIM:611544 OMIM:604307 ORPHA:363611 OMIM:604168 ORPHA:48431 ORPHA:819 ORPHA:1675 ORPHA:35173 OMIM:601675 ORPHA:90324 OMIM:133540 ORPHA:3412 ORPHA:2791 ORPHA:300179 ORPHA:2308 OMIM:610256 OMIM:110100 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:116200 ORPHA:2078 OMIM:616943 OMIM:300915 OMIM:612109 ORPHA:800 OMIM:255800 OMIM:118450 ORPHA:2322 OMIM:152950 OMIM:600268 OMIM:161200 OMIM:615877 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 OMIM:180500 OMIM:107250 OMIM:616171 OMIM:225400 ORPHA:1900 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:612018 OMIM:615663 ORPHA:487825 OMIM:602342 OMIM:260660 ORPHA:921 OMIM:615145 ORPHA:1297 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.