Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the face (HP:0000271)help
Parent Node:
expand
Abnormality of the orbital region (HP:0000315)help
..Starting node
..expand
Coloboma (HP:0000589)help
Term ID: 589
Name: Coloboma
Synonym: Notched pupil; Ocular coloboma; Ocular colobomas
Definition: A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Comments:
Reference: HP:0000589
Genes and Diseases:
 
       Child Nodes:
........expandRetinal coloboma (HP:0000480) help
................... HP:0001116 Macular coloboma
................... HP:0007808 Bilateral retinal coloboma
................... HP:0031614 Inferior retinal coloboma
........expandChorioretinal coloboma (HP:0000567) help
................... HP:0031613 Inferior chorioretinal coloboma
........expandOptic nerve coloboma (HP:0000588) help
........expandIris coloboma (HP:0000612) help
........expandCiliary body coloboma (HP:0020006) help
........expandLens coloboma (HP:0100719) help

 Sister Nodes: 
..expandAbnormal morphology of bony orbit of skull (HP:3000030) help
..expandAbnormal ocular adnexa morphology (HP:0030669) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandHamartoma of the orbital region (HP:0030670) 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:0000589HP:0000589Coloboma0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000589HP:0000589Coloboma0ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 7.20
HP:0000589HP:0000589Coloboma0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000589HP:0000589Coloboma0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000589HP:0000589Coloboma0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000589HP:0000589Coloboma0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000589HP:0000589Coloboma0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000589HP:0000589Coloboma0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0000589HP:0000589Coloboma0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0000589HP:0000589Coloboma0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000589HP:0000589Coloboma0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8HP:0040283 - Occasional10
HP:0000589HP:0000589Coloboma0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0000589HP:0000589Coloboma0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0000589HP:0000589Coloboma0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0000589HP:0000589Coloboma0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000589HP:0000589Coloboma0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0000589HP:0000589Coloboma0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0000589HP:0000589Coloboma0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0000589HP:0000589Coloboma0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0000589HP:0000589Coloboma0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0000589HP:0000589Coloboma0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000589HP:0000589Coloboma0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000589HP:0000589Coloboma0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0000589HP:0000589Coloboma0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0000589HP:0000589Coloboma0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000589HP:0000589Coloboma0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000589HP:0000589Coloboma0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0000589HP:0000589Coloboma0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0000589HP:0000589Coloboma0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0000589HP:0000589Coloboma0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0000589HP:0000589Coloboma0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000589HP:0000589Coloboma0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000589HP:0000589Coloboma0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0000589HP:0000589Coloboma0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0000589HP:0000589Coloboma0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000589HP:0000589Coloboma0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0000589HP:0000589Coloboma0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0000589HP:0000589Coloboma0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000589HP:0000589Coloboma0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000589HP:0000589Coloboma0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000589HP:0000589Coloboma0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000589HP:0000589Coloboma0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0000589HP:0000589Coloboma0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0000589HP:0000589Coloboma0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0000589HP:0000589Coloboma0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0000589HP:0000589Coloboma0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0000589HP:0000589Coloboma0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000589HP:0000589Coloboma0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0000589HP:0000589Coloboma0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0000589HP:0000589Coloboma0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0000589HP:0000589Coloboma0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0000589HP:0000589Coloboma0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0000589HP:0000589Coloboma0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000589HP:0000589Coloboma0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0000589HP:0000589Coloboma0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0000589HP:0000589Coloboma0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0000589HP:0000589Coloboma0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000589HP:0000589Coloboma0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000589HP:0000589Coloboma0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000589HP:0000589Coloboma0CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement42
HP:0000589HP:0000589Coloboma0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:0000589HP:0000589Coloboma0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0000589HP:0000589Coloboma0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000589HP:0000589Coloboma0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0000589HP:0000589Coloboma0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000589HP:0000589Coloboma0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000589HP:0000589Coloboma0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000589HP:0000589Coloboma0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000589HP:0000589Coloboma0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0000589HP:0000589Coloboma0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0000589HP:0000589Coloboma0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0000589HP:0000589Coloboma0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types33
HP:0000589HP:0000589Coloboma0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndrome33
HP:0000589HP:0000589Coloboma0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndrome10
HP:0000589HP:0000589Coloboma0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndrome18
HP:0000589HP:0000589Coloboma0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndrome13
HP:0000589HP:0000589Coloboma0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndrome11
HP:0000589HP:0000589Coloboma0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndrome29
HP:0000589HP:0000589Coloboma0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0000589HP:0000589Coloboma0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000589HP:0000589Coloboma0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000589HP:0000589Coloboma0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0000589HP:0000589Coloboma0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0000589HP:0000589Coloboma0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0000589HP:0000589Coloboma0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000589HP:0000589Coloboma0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000589HP:0000589Coloboma0DHX38 CL E G H978517211OMIM:618220Retinitis pigmentosa 841
HP:0000589HP:0000589Coloboma0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0000589HP:0000589Coloboma0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0000589HP:0000589Coloboma0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000589HP:0000589Coloboma0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000589HP:0000589Coloboma0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0000589HP:0000589Coloboma0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000589HP:0000589Coloboma0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000589HP:0000589Coloboma0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0000589HP:0000589Coloboma0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathy170
HP:0000589HP:0000589Coloboma0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0000589HP:0000589Coloboma0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000589HP:0000589Coloboma0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000589HP:0000589Coloboma0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0000589HP:0000589Coloboma0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0000589HP:0000589Coloboma0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0000589HP:0000589Coloboma0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0000589HP:0000589Coloboma0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0000589HP:0000589Coloboma0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0000589HP:0000589Coloboma0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000589HP:0000589Coloboma0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0000589HP:0000589Coloboma0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000589HP:0000589Coloboma0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000589HP:0000589Coloboma0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000589HP:0000589Coloboma0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0000589HP:0000589Coloboma0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0000589HP:0000589Coloboma0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000589HP:0000589Coloboma0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0000589HP:0000589Coloboma0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000589HP:0000589Coloboma0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia493
HP:0000589HP:0000589Coloboma0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000589HP:0000589Coloboma0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0000589HP:0000589Coloboma0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0000589HP:0000589Coloboma0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0000589HP:0000589Coloboma0GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000589HP:0000589Coloboma0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0000589HP:0000589Coloboma0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0000589HP:0000589Coloboma0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0000589HP:0000589Coloboma0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndrome34
HP:0000589HP:0000589Coloboma0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0000589HP:0000589Coloboma0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000589HP:0000589Coloboma0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000589HP:0000589Coloboma0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0000589HP:0000589Coloboma0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0000589HP:0000589Coloboma0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000589HP:0000589Coloboma0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0000589HP:0000589Coloboma0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000589HP:0000589Coloboma0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000589HP:0000589Coloboma0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0000589HP:0000589Coloboma0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000589HP:0000589Coloboma0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000589HP:0000589Coloboma0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0000589HP:0000589Coloboma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0000589HP:0000589Coloboma0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0000589HP:0000589Coloboma0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0000589HP:0000589Coloboma0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome5
HP:0000589HP:0000589Coloboma0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000589HP:0000589Coloboma0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0000589HP:0000589Coloboma0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000589HP:0000589Coloboma0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0000589HP:0000589Coloboma0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0000589HP:0000589Coloboma0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000589HP:0000589Coloboma0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0000589HP:0000589Coloboma0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000589HP:0000589Coloboma0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000589HP:0000589Coloboma0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0000589HP:0000589Coloboma0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 23HP:0040283 - Occasional24
HP:0000589HP:0000589Coloboma0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly24
HP:0000589HP:0000589Coloboma0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000589HP:0000589Coloboma0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndrome
HP:0000589HP:0000589Coloboma0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000589HP:0000589Coloboma0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0000589HP:0000589Coloboma0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0000589HP:0000589Coloboma0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0000589HP:0000589Coloboma0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000589HP:0000589Coloboma0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0000589HP:0000589Coloboma0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000589HP:0000589Coloboma0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000589HP:0000589Coloboma0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000589HP:0000589Coloboma0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000589HP:0000589Coloboma0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000589HP:0000589Coloboma0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndrome289
HP:0000589HP:0000589Coloboma0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000589HP:0000589Coloboma0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0000589HP:0000589Coloboma0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndrome21
HP:0000589HP:0000589Coloboma0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0000589HP:0000589Coloboma0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000589HP:0000589Coloboma0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0000589HP:0000589Coloboma0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000589HP:0000589Coloboma0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000589HP:0000589Coloboma0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000589HP:0000589Coloboma0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0000589HP:0000589Coloboma0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0000589HP:0000589Coloboma0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0000589HP:0000589Coloboma0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000589HP:0000589Coloboma0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0000589HP:0000589Coloboma0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0000589HP:0000589Coloboma0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0000589HP:0000589Coloboma0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0000589HP:0000589Coloboma0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0000589HP:0000589Coloboma0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000589HP:0000589Coloboma0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000589HP:0000589Coloboma0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000589HP:0000589Coloboma0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000589HP:0000589Coloboma0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000589HP:0000589Coloboma0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000589HP:0000589Coloboma0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0000589HP:0000589Coloboma0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000589HP:0000589Coloboma0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndrome144
HP:0000589HP:0000589Coloboma0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0000589HP:0000589Coloboma0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0000589HP:0000589Coloboma0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0000589HP:0000589Coloboma0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000589HP:0000589Coloboma0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000589HP:0000589Coloboma0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0000589HP:0000589Coloboma0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000589HP:0000589Coloboma0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000589HP:0000589Coloboma0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndrome39
HP:0000589HP:0000589Coloboma0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040283 - Occasional194
HP:0000589HP:0000589Coloboma0PAX6 CL E G H50808620OMIM:120430Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included194
HP:0000589HP:0000589Coloboma0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000589HP:0000589Coloboma0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0000589HP:0000589Coloboma0PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomaly194
HP:0000589HP:0000589Coloboma0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040283 - Occasional11
HP:0000589HP:0000589Coloboma0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0000589HP:0000589Coloboma0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathy
HP:0000589HP:0000589Coloboma0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0000589HP:0000589Coloboma0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000589HP:0000589Coloboma0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0000589HP:0000589Coloboma0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0000589HP:0000589Coloboma0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0000589HP:0000589Coloboma0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000589HP:0000589Coloboma0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000589HP:0000589Coloboma0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000589HP:0000589Coloboma0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000589HP:0000589Coloboma0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000589HP:0000589Coloboma0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0000589HP:0000589Coloboma0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000589HP:0000589Coloboma0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0000589HP:0000589Coloboma0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0000589HP:0000589Coloboma0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0000589HP:0000589Coloboma0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0000589HP:0000589Coloboma0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0000589HP:0000589Coloboma0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0000589HP:0000589Coloboma0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000589HP:0000589Coloboma0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0000589HP:0000589Coloboma0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0000589HP:0000589Coloboma0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000589HP:0000589Coloboma0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0000589HP:0000589Coloboma0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000589HP:0000589Coloboma0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0000589HP:0000589Coloboma0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000589HP:0000589Coloboma0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0000589HP:0000589Coloboma0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0000589HP:0000589Coloboma0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000589HP:0000589Coloboma0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000589HP:0000589Coloboma0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0000589HP:0000589Coloboma0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000589HP:0000589Coloboma0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0000589HP:0000589Coloboma0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000589HP:0000589Coloboma0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0000589HP:0000589Coloboma0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000589HP:0000589Coloboma0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000589HP:0000589Coloboma0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000589HP:0000589Coloboma0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000589HP:0000589Coloboma0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0000589HP:0000589Coloboma0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0000589HP:0000589Coloboma0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0000589HP:0000589Coloboma0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0000589HP:0000589Coloboma0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 108
HP:0000589HP:0000589Coloboma0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome8
HP:0000589HP:0000589Coloboma0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000589HP:0000589Coloboma0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0000589HP:0000589Coloboma0ROR1 CL E G H491910256OMIM:617654Deafness, autosomal recessive 1081
HP:0000589HP:0000589Coloboma0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000589HP:0000589Coloboma0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0000589HP:0000589Coloboma0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0000589HP:0000589Coloboma0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0000589HP:0000589Coloboma0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0000589HP:0000589Coloboma0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0000589HP:0000589Coloboma0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0000589HP:0000589Coloboma0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000589HP:0000589Coloboma0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000589HP:0000589Coloboma0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0000589HP:0000589Coloboma0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0000589HP:0000589Coloboma0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000589HP:0000589Coloboma0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000589HP:0000589Coloboma0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0000589HP:0000589Coloboma0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000589HP:0000589Coloboma0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0000589HP:0000589Coloboma0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000589HP:0000589Coloboma0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000589HP:0000589Coloboma0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000589HP:0000589Coloboma0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0000589HP:0000589Coloboma0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000589HP:0000589Coloboma0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy20
HP:0000589HP:0000589Coloboma0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000589HP:0000589Coloboma0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0000589HP:0000589Coloboma0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0000589HP:0000589Coloboma0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0000589HP:0000589Coloboma0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0000589HP:0000589Coloboma0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000589HP:0000589Coloboma0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000589HP:0000589Coloboma0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 1HP:0040283 - Occasional6
HP:0000589HP:0000589Coloboma0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies6
HP:0000589HP:0000589Coloboma0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000589HP:0000589Coloboma0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000589HP:0000589Coloboma0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0000589HP:0000589Coloboma0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040282 - Frequent80
HP:0000589HP:0000589Coloboma0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000589HP:0000589Coloboma0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0000589HP:0000589Coloboma0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0000589HP:0000589Coloboma0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0000589HP:0000589Coloboma0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0000589HP:0000589Coloboma0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000589HP:0000589Coloboma0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0000589HP:0000589Coloboma0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040282 - Frequent28
HP:0000589HP:0000589Coloboma0TBX22 CL E G H5094511600OMIM:302905Charge-Like syndrome, X-linked.28
HP:0000589HP:0000589Coloboma0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000589HP:0000589Coloboma0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0000589HP:0000589Coloboma0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0000589HP:0000589Coloboma0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0000589HP:0000589Coloboma0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 912
HP:0000589HP:0000589Coloboma0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0000589HP:0000589Coloboma0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000589HP:0000589Coloboma0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0000589HP:0000589Coloboma0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0000589HP:0000589Coloboma0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0000589HP:0000589Coloboma0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0000589HP:0000589Coloboma0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0000589HP:0000589Coloboma0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0000589HP:0000589Coloboma0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0000589HP:0000589Coloboma0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0000589HP:0000589Coloboma0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000589HP:0000589Coloboma0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0000589HP:0000589Coloboma0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0000589HP:0000589Coloboma0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000589HP:0000589Coloboma0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0000589HP:0000589Coloboma0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0000589HP:0000589Coloboma0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0000589HP:0000589Coloboma0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0000589HP:0000589Coloboma0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0000589HP:0000589Coloboma0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000589HP:0000589Coloboma0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0000589HP:0000589Coloboma0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000589HP:0000589Coloboma0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000589HP:0000589Coloboma0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0000589HP:0000589Coloboma0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000589HP:0000589Coloboma0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000589HP:0000589Coloboma0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000589HP:0000589Coloboma0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000589HP:0000589Coloboma0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0000589HP:0000589Coloboma0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation.2
HP:0000589HP:0000589Coloboma0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0000589HP:0000589Coloboma0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000589HP:0000589Coloboma0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000589HP:0000589Coloboma0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000589HP:0000589Coloboma0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0000589HP:0000589Coloboma0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000589HP:0000589Coloboma0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0000589HP:0000612Iris coloboma1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000589HP:0000612Iris coloboma1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000589HP:0000588Optic disc coloboma1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0000589HP:0000567Chorioretinal coloboma1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000589HP:0000612Iris coloboma1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000589HP:0000612Iris coloboma1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000589HP:0000588Optic disc coloboma1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0000589HP:0000612Iris coloboma1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000589HP:0000612Iris coloboma1AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000589HP:0000612Iris coloboma1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000589HP:0000480Retinal coloboma1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000589HP:0000567Chorioretinal coloboma1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000589HP:0000480Retinal coloboma1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0000589HP:0000612Iris coloboma1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000589HP:0000612Iris coloboma1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000589HP:0000612Iris coloboma1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000589HP:0000612Iris coloboma1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000589HP:0000612Iris coloboma1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000589HP:0000612Iris coloboma1ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000589HP:0000612Iris coloboma1ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000589HP:0000612Iris coloboma1ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessiveHP:0040283 - Occasional4
HP:0000589HP:0000612Iris coloboma1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000589HP:0000612Iris coloboma1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000589HP:0000612Iris coloboma1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000589HP:0000612Iris coloboma1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000589HP:0000480Retinal coloboma1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000589HP:0000612Iris coloboma1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000589HP:0000612Iris coloboma1B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000589HP:0000612Iris coloboma1B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000589HP:0000567Chorioretinal coloboma1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000589HP:0000612Iris coloboma1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000589HP:0000588Optic disc coloboma1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000589HP:0000612Iris coloboma1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000589HP:0000588Optic disc coloboma1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000589HP:0020006Ciliary body coloboma1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000589HP:0000567Chorioretinal coloboma1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000589HP:0000612Iris coloboma1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000589HP:0000612Iris coloboma1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000589HP:0000567Chorioretinal coloboma1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0000589HP:0000612Iris coloboma1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0000589HP:0000567Chorioretinal coloboma1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0000589HP:0000612Iris coloboma1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000589HP:0000567Chorioretinal coloboma1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000589HP:0000612Iris coloboma1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0000589HP:0000480Retinal coloboma1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000589HP:0000588Optic disc coloboma1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000589HP:0000480Retinal coloboma1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000589HP:0000480Retinal coloboma1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000589HP:0000567Chorioretinal coloboma1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0000589HP:0000612Iris coloboma1CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000589HP:0000567Chorioretinal coloboma1CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0000589HP:0000588Optic disc coloboma1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000589HP:0000612Iris coloboma1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000589HP:0000567Chorioretinal coloboma1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000589HP:0000612Iris coloboma1CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000589HP:0000567Chorioretinal coloboma1CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000589HP:0000567Chorioretinal coloboma1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000589HP:0000612Iris coloboma1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000589HP:0000612Iris coloboma1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0000589HP:0000612Iris coloboma1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000589HP:0000612Iris coloboma1CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000589HP:0000612Iris coloboma1CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000589HP:0000612Iris coloboma1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000589HP:0000480Retinal coloboma1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000589HP:0000480Retinal coloboma1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0000589HP:0000567Chorioretinal coloboma1CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000589HP:0000612Iris coloboma1CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000589HP:0000612Iris coloboma1CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000589HP:0000612Iris coloboma1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000589HP:0000480Retinal coloboma1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000589HP:0000567Chorioretinal coloboma1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000589HP:0000612Iris coloboma1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000589HP:0000480Retinal coloboma1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000589HP:0000612Iris coloboma1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000589HP:0000567Chorioretinal coloboma1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000589HP:0000612Iris coloboma1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000589HP:0000567Chorioretinal coloboma1CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementHP:0040281 - Very frequent42
HP:0000589HP:0000480Retinal coloboma1CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement42
HP:0000589HP:0000480Retinal coloboma1CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:0000589HP:0000612Iris coloboma1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000589HP:0000612Iris coloboma1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000589HP:0000612Iris coloboma1CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000589HP:0000612Iris coloboma1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000589HP:0000480Retinal coloboma1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000589HP:0000612Iris coloboma1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple typesHP:0040283 - Occasional33
HP:0000589HP:0000612Iris coloboma1CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional33
HP:0000589HP:0000612Iris coloboma1CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional10
HP:0000589HP:0000612Iris coloboma1CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional18
HP:0000589HP:0000612Iris coloboma1CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional13
HP:0000589HP:0000612Iris coloboma1CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional11
HP:0000589HP:0000612Iris coloboma1CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional29
HP:0000589HP:0000612Iris coloboma1CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000589HP:0000612Iris coloboma1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000589HP:0000612Iris coloboma1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000589HP:0000612Iris coloboma1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000589HP:0000567Chorioretinal coloboma1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000589HP:0000612Iris coloboma1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000589HP:0000588Optic disc coloboma1DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0000589HP:0000588Optic disc coloboma1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000589HP:0000612Iris coloboma1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000589HP:0000480Retinal coloboma1DHX38 CL E G H978517211OMIM:618220Retinitis pigmentosa 841
HP:0000589HP:0000612Iris coloboma1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0000589HP:0000612Iris coloboma1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0000589HP:0000612Iris coloboma1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000589HP:0000612Iris coloboma1ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000589HP:0000588Optic disc coloboma1EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare170
HP:0000589HP:0000612Iris coloboma1ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000589HP:0100719Lens coloboma1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000589HP:0000480Retinal coloboma1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000589HP:0100719Lens coloboma1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000589HP:0000612Iris coloboma1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000589HP:0000612Iris coloboma1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0000589HP:0000612Iris coloboma1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0000589HP:0000612Iris coloboma1FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmiaHP:0040283 - Occasional172
HP:0000589HP:0000612Iris coloboma1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0000589HP:0000612Iris coloboma1FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000589HP:0000612Iris coloboma1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000589HP:0000480Retinal coloboma1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0000589HP:0000612Iris coloboma1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000589HP:0000612Iris coloboma1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000589HP:0000612Iris coloboma1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000589HP:0000612Iris coloboma1FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000589HP:0000612Iris coloboma1FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000589HP:0000612Iris coloboma1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0000589HP:0000612Iris coloboma1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0000589HP:0000612Iris coloboma1GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000589HP:0000567Chorioretinal coloboma1GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000589HP:0000612Iris coloboma1GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional34
HP:0000589HP:0000612Iris coloboma1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0000589HP:0000612Iris coloboma1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000589HP:0000612Iris coloboma1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000589HP:0000612Iris coloboma1GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0000589HP:0000567Chorioretinal coloboma1GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0000589HP:0000612Iris coloboma1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0000589HP:0000567Chorioretinal coloboma1HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0000589HP:0000588Optic disc coloboma1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000589HP:0000480Retinal coloboma1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000589HP:0000612Iris coloboma1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000589HP:0000567Chorioretinal coloboma1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000589HP:0000612Iris coloboma1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0000589HP:0000612Iris coloboma1HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000589HP:0000588Optic disc coloboma1IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000589HP:0000612Iris coloboma1IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000589HP:0000612Iris coloboma1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000589HP:0000588Optic disc coloboma1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000589HP:0000612Iris coloboma1INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000589HP:0000588Optic disc coloboma1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000589HP:0000567Chorioretinal coloboma1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000589HP:0000567Chorioretinal coloboma1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000589HP:0000612Iris coloboma1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000589HP:0000588Optic disc coloboma1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000589HP:0000612Iris coloboma1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000589HP:0000480Retinal coloboma1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000589HP:0000480Retinal coloboma1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000589HP:0000612Iris coloboma1KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000589HP:0000612Iris coloboma1KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000589HP:0000480Retinal coloboma1KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0000589HP:0000612Iris coloboma1KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040282 - Frequent
HP:0000589HP:0000612Iris coloboma1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0000589HP:0000612Iris coloboma1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0000589HP:0000612Iris coloboma1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000589HP:0000480Retinal coloboma1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000589HP:0000612Iris coloboma1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000589HP:0000612Iris coloboma1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000589HP:0000480Retinal coloboma1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000589HP:0000612Iris coloboma1LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040283 - Occasional289
HP:0000589HP:0000612Iris coloboma1LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000589HP:0000612Iris coloboma1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0000589HP:0000612Iris coloboma1MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional21
HP:0000589HP:0000567Chorioretinal coloboma1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000589HP:0000612Iris coloboma1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000589HP:0000480Retinal coloboma1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000589HP:0000612Iris coloboma1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0000589HP:0000612Iris coloboma1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000589HP:0000612Iris coloboma1MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000589HP:0000612Iris coloboma1MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0000589HP:0000480Retinal coloboma1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000589HP:0000612Iris coloboma1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000589HP:0000612Iris coloboma1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000589HP:0000480Retinal coloboma1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0000589HP:0000612Iris coloboma1MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0000589HP:0000612Iris coloboma1MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0000589HP:0000612Iris coloboma1MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0000589HP:0000612Iris coloboma1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000589HP:0000567Chorioretinal coloboma1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000589HP:0000588Optic disc coloboma1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000589HP:0000567Chorioretinal coloboma1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000589HP:0020006Ciliary body coloboma1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000589HP:0000612Iris coloboma1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000589HP:0000588Optic disc coloboma1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000589HP:0000612Iris coloboma1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0000589HP:0000612Iris coloboma1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000589HP:0000588Optic disc coloboma1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000589HP:0000480Retinal coloboma1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000589HP:0000480Retinal coloboma1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000589HP:0000612Iris coloboma1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0000589HP:0000612Iris coloboma1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000589HP:0000612Iris coloboma1NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0000589HP:0000612Iris coloboma1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000589HP:0000612Iris coloboma1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0000589HP:0000612Iris coloboma1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000589HP:0000612Iris coloboma1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000589HP:0000480Retinal coloboma1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000589HP:0000588Optic disc coloboma1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000589HP:0000480Retinal coloboma1PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040283 - Occasional39
HP:0000589HP:0000588Optic disc coloboma1PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040283 - Occasional39
HP:0000589HP:0000588Optic disc coloboma1PAX6 CL E G H50808620OMIM:120430Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included194
HP:0000589HP:0000567Chorioretinal coloboma1PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000589HP:0000588Optic disc coloboma1PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000589HP:0000567Chorioretinal coloboma1PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasiaHP:0040282 - Frequent194
HP:0000589HP:0000588Optic disc coloboma1PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomalyHP:0040283 - Occasional194
HP:0000589HP:0000588Optic disc coloboma1PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare
HP:0000589HP:0000612Iris coloboma1PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0000589HP:0000612Iris coloboma1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000589HP:0000480Retinal coloboma1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000589HP:0000480Retinal coloboma1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000589HP:0000612Iris coloboma1PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0000589HP:0000612Iris coloboma1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000589HP:0000612Iris coloboma1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000589HP:0000612Iris coloboma1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0000589HP:0000612Iris coloboma1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0000589HP:0000612Iris coloboma1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0000589HP:0000612Iris coloboma1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000589HP:0000612Iris coloboma1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000589HP:0000612Iris coloboma1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000589HP:0000612Iris coloboma1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000589HP:0000612Iris coloboma1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000589HP:0000612Iris coloboma1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000589HP:0000567Chorioretinal coloboma1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000589HP:0000567Chorioretinal coloboma1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000589HP:0000612Iris coloboma1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000589HP:0000480Retinal coloboma1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0000589HP:0100719Lens coloboma1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000589HP:0000612Iris coloboma1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000589HP:0000612Iris coloboma1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0000589HP:0000612Iris coloboma1PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000589HP:0000612Iris coloboma1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000589HP:0000612Iris coloboma1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0000589HP:0000612Iris coloboma1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0000589HP:0000612Iris coloboma1PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000589HP:0000567Chorioretinal coloboma1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000589HP:0000480Retinal coloboma1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000589HP:0000612Iris coloboma1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000589HP:0000480Retinal coloboma1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000589HP:0000480Retinal coloboma1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040283 - Occasional85
HP:0000589HP:0000480Retinal coloboma1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040283 - Occasional90
HP:0000589HP:0000480Retinal coloboma1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040283 - Occasional135
HP:0000589HP:0000612Iris coloboma1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000589HP:0000567Chorioretinal coloboma1RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0000589HP:0000612Iris coloboma1RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0000589HP:0000612Iris coloboma1RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.8
HP:0000589HP:0000567Chorioretinal coloboma1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000589HP:0000612Iris coloboma1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000589HP:0000612Iris coloboma1ROR1 CL E G H491910256OMIM:617654Deafness, autosomal recessive 1081
HP:0000589HP:0000480Retinal coloboma1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000589HP:0000567Chorioretinal coloboma1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000589HP:0000612Iris coloboma1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000589HP:0000588Optic disc coloboma1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000589HP:0000612Iris coloboma1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0000589HP:0000612Iris coloboma1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000589HP:0000612Iris coloboma1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000589HP:0000567Chorioretinal coloboma1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000589HP:0000567Chorioretinal coloboma1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000589HP:0000612Iris coloboma1SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000589HP:0000588Optic disc coloboma1SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000589HP:0000480Retinal coloboma1SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000589HP:0000612Iris coloboma1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000589HP:0000588Optic disc coloboma1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0000589HP:0000567Chorioretinal coloboma1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000589HP:0000567Chorioretinal coloboma1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000589HP:0000612Iris coloboma1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000589HP:0000480Retinal coloboma1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000589HP:0000612Iris coloboma1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000589HP:0000612Iris coloboma1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000589HP:0000567Chorioretinal coloboma1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000589HP:0000612Iris coloboma1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0000589HP:0000567Chorioretinal coloboma1SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000589HP:0000612Iris coloboma1SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000589HP:0000612Iris coloboma1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000589HP:0000612Iris coloboma1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000589HP:0000567Chorioretinal coloboma1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000589HP:0000612Iris coloboma1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000589HP:0000612Iris coloboma1SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophyHP:0040283 - Occasional20
HP:0000589HP:0000567Chorioretinal coloboma1SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophyHP:0040283 - Occasional20
HP:0000589HP:0000612Iris coloboma1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000589HP:0000612Iris coloboma1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0000589HP:0000612Iris coloboma1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0000589HP:0000588Optic disc coloboma1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0000589HP:0000612Iris coloboma1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0000589HP:0000480Retinal coloboma1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000589HP:0000588Optic disc coloboma1SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies6
HP:0000589HP:0000612Iris coloboma1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000589HP:0000567Chorioretinal coloboma1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000589HP:0000612Iris coloboma1SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0000589HP:0000612Iris coloboma1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0000589HP:0000612Iris coloboma1SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000589HP:0000612Iris coloboma1SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0000589HP:0000612Iris coloboma1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0000589HP:0000480Retinal coloboma1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040283 - Occasional15
HP:0000589HP:0000567Chorioretinal coloboma1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040282 - Frequent28
HP:0000589HP:0000612Iris coloboma1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040282 - Frequent28
HP:0000589HP:0000612Iris coloboma1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0000589HP:0000612Iris coloboma1TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0000589HP:0000612Iris coloboma1TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0000589HP:0000612Iris coloboma1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0000589HP:0000612Iris coloboma1TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000589HP:0000612Iris coloboma1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0000589HP:0000480Retinal coloboma1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000589HP:0000612Iris coloboma1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000589HP:0000612Iris coloboma1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000589HP:0000567Chorioretinal coloboma1TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000589HP:0000612Iris coloboma1TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000589HP:0000588Optic disc coloboma1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0000589HP:0000567Chorioretinal coloboma1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000589HP:0000567Chorioretinal coloboma1TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000589HP:0000612Iris coloboma1TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000589HP:0000612Iris coloboma1TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000589HP:0000567Chorioretinal coloboma1TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000589HP:0000612Iris coloboma1TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000589HP:0000612Iris coloboma1TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0000589HP:0000567Chorioretinal coloboma1TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000589HP:0000612Iris coloboma1TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000589HP:0000612Iris coloboma1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0000589HP:0000612Iris coloboma1TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0000589HP:0000567Chorioretinal coloboma1TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0000589HP:0000567Chorioretinal coloboma1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000589HP:0000588Optic disc coloboma1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000589HP:0000612Iris coloboma1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000589HP:0000612Iris coloboma1TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000589HP:0000612Iris coloboma1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0000589HP:0000612Iris coloboma1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000589HP:0000588Optic disc coloboma1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0000589HP:0000612Iris coloboma1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0000589HP:0000567Chorioretinal coloboma1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000589HP:0000612Iris coloboma1VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0000589HP:0000567Chorioretinal coloboma1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000589HP:0000567Chorioretinal coloboma1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000589HP:0000612Iris coloboma1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000589HP:0000612Iris coloboma1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000589HP:0000612Iris coloboma1YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040282 - Frequent2
HP:0000589HP:0000567Chorioretinal coloboma1YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040281 - Very frequent2
HP:0000589HP:0000612Iris coloboma1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000589HP:0000567Chorioretinal coloboma1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000589HP:0000612Iris coloboma1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000589HP:0000480Retinal coloboma1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000589HP:0000480Retinal coloboma1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000589HP:0000612Iris coloboma1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000589HP:0000612Iris coloboma1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0000589HP:0000567Chorioretinal coloboma1ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000589HP:0000612Iris coloboma1ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000589HP:0031613Inferior chorioretinal coloboma2 CL E G H
HP:0000589HP:0031614Inferior retinal coloboma2 CL E G H
HP:0000589HP:0001116Macular coloboma2CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementHP:0040281 - Very frequent42
HP:0000589HP:0001116Macular coloboma2CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000589HP:0001116Macular coloboma2CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000589HP:0001116Macular coloboma2DHX38 CL E G H978517211OMIM:618220Retinitis pigmentosa 84HP:0040284 - Very rare1
HP:0000589HP:0001116Macular coloboma2LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000589HP:0001116Macular coloboma2LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000589HP:0001116Macular coloboma2MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0000589HP:0001116Macular coloboma2NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9.15
HP:0000589HP:0001116Macular coloboma2NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000589HP:0001116Macular coloboma2PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0000589HP:0001116Macular coloboma2RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000589HP:0001116Macular coloboma2SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48


Genes (233) :AAAS ABCB6 ACTB ACTG1 ADNP AHI1 AKT1 ALDH1A3 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ASXL1 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BMP4 C12ORF57 C2CD3 CAPN15 CASK CBY1 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 CLDN19 COL4A1 COX7B CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DDX11 DDX59 DHCR7 DHX38 DISP1 DLL1 DPYD DYRK1A EIF3F ELP4 EP300 EPCAM ERF ESCO2 FBXW11 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FIBP FKRP FKTN FLI1 FLNA FOXE3 FOXH1 GAS1 GDF3 GDF6 GJA8 GLI2 GMPPA GMPPB GNAQ GZF1 HCCS HHAT HMGB3 HMX1 HNRNPK HRAS HYLS1 IGBP1 INPP5E INTS1 KATNIP KCTD1 KDM6A KIAA0586 KIF7 KIFBP KMT2D KRAS LARGE1 LCA5 LETM1 LRAT LRP2 MAB21L2 MAF MAFB MAN2C1 MBTPS2 MED12L MED13L MIR204 MITF MKS1 MMACHC MMP14 MMP2 MPDZ NAA10 NDUFB11 NELFA NIPBL NMNAT1 NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 OTX2 PACS1 PAX2 PAX6 PCYT1A PDE6D PERCC1 PIBF1 PIGG PIGL PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRMT7 PRPS1 PRR12 PTCH1 PTCH2 PTEN PUF60 RAB18 RAB3GAP1 RAB3GAP2 RB1 RBP4 RERE ROR1 RPE65 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SATB2 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPATA7 SPECC1L SPINT2 SPTBN1 SRD5A3 SUFU TBC1D20 TBC1D23 TBR1 TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRAPPC11 TRIM37 TRRAP VPS13B VPS35L VSX2 WAC WASHC5 WDR37 WNT3 YAP1 ZEB2 ZIC2 ZMIZ1 ZNF423

Diseases (215) :ORPHA:869 OMIM:614497 ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:404448 ORPHA:475 ORPHA:220493 ORPHA:744 OMIM:615113 ORPHA:79326 OMIM:607906 OMIM:601110 OMIM:136760 ORPHA:391474 ORPHA:251066 ORPHA:97297 OMIM:221900 OMIM:618012 ORPHA:899 ORPHA:709 OMIM:261540 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:139471 OMIM:607932 ORPHA:1777 OMIM:218340 ORPHA:434179 OMIM:615948 OMIM:619318 OMIM:300749 ORPHA:163937 OMIM:619111 ORPHA:1454 ORPHA:2318 ORPHA:7 ORPHA:280200 OMIM:243605 OMIM:610188 ORPHA:138 OMIM:214800 ORPHA:233 ORPHA:2196 OMIM:248190 OMIM:309801 ORPHA:280 OMIM:194190 OMIM:613835 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:604219 ORPHA:1377 ORPHA:857 OMIM:613398 OMIM:174300 ORPHA:818 OMIM:618220 OMIM:274270 ORPHA:268261 OMIM:618295 OMIM:617141 ORPHA:353284 ORPHA:92050 ORPHA:207 OMIM:268300 OMIM:618914 ORPHA:2791 ORPHA:2396 OMIM:147950 ORPHA:500095 OMIM:617107 ORPHA:370959 OMIM:236670 OMIM:613153 ORPHA:2308 OMIM:300244 ORPHA:88630 OMIM:610256 OMIM:613702 OMIM:613703 OMIM:613094 ORPHA:3205 OMIM:617662 ORPHA:1422 OMIM:600092 OMIM:300915 OMIM:612109 ORPHA:352665 ORPHA:453504 ORPHA:2612 ORPHA:2874 OMIM:163200 ORPHA:52055 OMIM:300472 OMIM:213300 OMIM:618571 OMIM:181270 ORPHA:2322 OMIM:616490 OMIM:616546 OMIM:200990 ORPHA:66629 ORPHA:364055 OMIM:222448 ORPHA:2143 OMIM:615877 OMIM:610202 OMIM:619775 ORPHA:85284 OMIM:618872 OMIM:616789 OMIM:616722 OMIM:617306 OMIM:249000 ORPHA:79282 ORPHA:371428 OMIM:615219 OMIM:122470 OMIM:608553 OMIM:619260 ORPHA:955 ORPHA:2789 ORPHA:220497 OMIM:610125 ORPHA:329224 OMIM:120330 ORPHA:1475 ORPHA:2334 OMIM:120430 OMIM:120200 ORPHA:137902 ORPHA:35737 ORPHA:85167 OMIM:615665 ORPHA:3474 OMIM:280000 ORPHA:2377 ORPHA:468678 OMIM:616364 ORPHA:861 OMIM:253280 OMIM:615249 OMIM:305600 ORPHA:2092 OMIM:309500 ORPHA:464288 ORPHA:423479 OMIM:619539 OMIM:109400 ORPHA:377 OMIM:610828 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:2510 ORPHA:1587 OMIM:616428 OMIM:615147 OMIM:616975 ORPHA:494344 OMIM:617654 ORPHA:3301 OMIM:107480 OMIM:216820 ORPHA:959 OMIM:607323 ORPHA:251028 OMIM:611638 OMIM:147250 ORPHA:94065 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:212550 OMIM:603457 ORPHA:2250 ORPHA:1553 OMIM:601707 ORPHA:77298 OMIM:600251 OMIM:270420 OMIM:619475 OMIM:612379 OMIM:612713 ORPHA:324737 OMIM:617695 ORPHA:1617 ORPHA:921 OMIM:302905 OMIM:615145 ORPHA:1297 OMIM:113620 OMIM:614465 OMIM:608091 OMIM:614424 OMIM:216360 OMIM:610688 OMIM:253250 OMIM:618454 ORPHA:193 OMIM:619135 OMIM:610092 ORPHA:284169 OMIM:220210 OMIM:618652 OMIM:120433 ORPHA:1473 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659
 

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