Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Coloboma (HP:0000589)help
..Starting node
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Iris coloboma (HP:0000612)help
Term ID: 612
Name: Iris coloboma
Synonym: Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris
Definition: A coloboma of the iris.
Comments:
Reference: HP:0000612
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorioretinal coloboma (HP:0000567) help
..expandCiliary body coloboma (HP:0020006) help
..expandLens coloboma (HP:0100719) help
..expandOptic disc coloboma (HP:0000588) help
..expandRetinal coloboma (HP:0000480) 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:0000612HP:0000612Iris coloboma0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000612HP:0000612Iris coloboma0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000612HP:0000612Iris coloboma0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000612HP:0000612Iris coloboma0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000612HP:0000612Iris coloboma0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000612HP:0000612Iris coloboma0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000612HP:0000612Iris coloboma0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000612HP:0000612Iris coloboma0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000612HP:0000612Iris coloboma0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000612HP:0000612Iris coloboma0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000612HP:0000612Iris coloboma0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessiveHP:0040283 - Occasional4
HP:0000612HP:0000612Iris coloboma0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000612HP:0000612Iris coloboma0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000612HP:0000612Iris coloboma0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000612HP:0000612Iris coloboma0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000612HP:0000612Iris coloboma0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000612HP:0000612Iris coloboma0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0000612HP:0000612Iris coloboma0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000612HP:0000612Iris coloboma0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0000612HP:0000612Iris coloboma0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000612HP:0000612Iris coloboma0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000612HP:0000612Iris coloboma0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0000612HP:0000612Iris coloboma0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000612HP:0000612Iris coloboma0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000612HP:0000612Iris coloboma0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000612HP:0000612Iris coloboma0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000612HP:0000612Iris coloboma0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000612HP:0000612Iris coloboma0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000612HP:0000612Iris coloboma0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000612HP:0000612Iris coloboma0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000612HP:0000612Iris coloboma0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple typesHP:0040283 - Occasional33
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional33
HP:0000612HP:0000612Iris coloboma0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional10
HP:0000612HP:0000612Iris coloboma0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional18
HP:0000612HP:0000612Iris coloboma0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional13
HP:0000612HP:0000612Iris coloboma0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional11
HP:0000612HP:0000612Iris coloboma0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional29
HP:0000612HP:0000612Iris coloboma0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000612HP:0000612Iris coloboma0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000612HP:0000612Iris coloboma0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000612HP:0000612Iris coloboma0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000612HP:0000612Iris coloboma0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000612HP:0000612Iris coloboma0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000612HP:0000612Iris coloboma0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0000612HP:0000612Iris coloboma0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0000612HP:0000612Iris coloboma0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000612HP:0000612Iris coloboma0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000612HP:0000612Iris coloboma0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000612HP:0000612Iris coloboma0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0000612HP:0000612Iris coloboma0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmiaHP:0040283 - Occasional172
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0000612HP:0000612Iris coloboma0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000612HP:0000612Iris coloboma0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000612HP:0000612Iris coloboma0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000612HP:0000612Iris coloboma0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000612HP:0000612Iris coloboma0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000612HP:0000612Iris coloboma0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000612HP:0000612Iris coloboma0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000612HP:0000612Iris coloboma0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0000612HP:0000612Iris coloboma0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0000612HP:0000612Iris coloboma0GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000612HP:0000612Iris coloboma0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional34
HP:0000612HP:0000612Iris coloboma0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0000612HP:0000612Iris coloboma0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000612HP:0000612Iris coloboma0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000612HP:0000612Iris coloboma0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0000612HP:0000612Iris coloboma0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0000612HP:0000612Iris coloboma0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000612HP:0000612Iris coloboma0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0000612HP:0000612Iris coloboma0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000612HP:0000612Iris coloboma0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000612HP:0000612Iris coloboma0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000612HP:0000612Iris coloboma0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040282 - Frequent
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0000612HP:0000612Iris coloboma0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040283 - Occasional289
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000612HP:0000612Iris coloboma0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0000612HP:0000612Iris coloboma0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndromeHP:0040283 - Occasional21
HP:0000612HP:0000612Iris coloboma0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000612HP:0000612Iris coloboma0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0000612HP:0000612Iris coloboma0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000612HP:0000612Iris coloboma0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000612HP:0000612Iris coloboma0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0000612HP:0000612Iris coloboma0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0000612HP:0000612Iris coloboma0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000612HP:0000612Iris coloboma0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0000612HP:0000612Iris coloboma0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000612HP:0000612Iris coloboma0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0000612HP:0000612Iris coloboma0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000612HP:0000612Iris coloboma0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0000612HP:0000612Iris coloboma0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000612HP:0000612Iris coloboma0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000612HP:0000612Iris coloboma0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0000612HP:0000612Iris coloboma0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000612HP:0000612Iris coloboma0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0000612HP:0000612Iris coloboma0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000612HP:0000612Iris coloboma0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000612HP:0000612Iris coloboma0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0000612HP:0000612Iris coloboma0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0000612HP:0000612Iris coloboma0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0000612HP:0000612Iris coloboma0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000612HP:0000612Iris coloboma0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000612HP:0000612Iris coloboma0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000612HP:0000612Iris coloboma0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000612HP:0000612Iris coloboma0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000612HP:0000612Iris coloboma0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000612HP:0000612Iris coloboma0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000612HP:0000612Iris coloboma0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.8
HP:0000612HP:0000612Iris coloboma0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000612HP:0000612Iris coloboma0ROR1 CL E G H491910256OMIM:617654Deafness, autosomal recessive 1081
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0000612HP:0000612Iris coloboma0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000612HP:0000612Iris coloboma0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000612HP:0000612Iris coloboma0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000612HP:0000612Iris coloboma0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0000612HP:0000612Iris coloboma0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000612HP:0000612Iris coloboma0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000612HP:0000612Iris coloboma0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000612HP:0000612Iris coloboma0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000612HP:0000612Iris coloboma0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophyHP:0040283 - Occasional20
HP:0000612HP:0000612Iris coloboma0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000612HP:0000612Iris coloboma0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0000612HP:0000612Iris coloboma0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0000612HP:0000612Iris coloboma0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0000612HP:0000612Iris coloboma0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000612HP:0000612Iris coloboma0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0000612HP:0000612Iris coloboma0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040282 - Frequent28
HP:0000612HP:0000612Iris coloboma0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0000612HP:0000612Iris coloboma0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0000612HP:0000612Iris coloboma0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0000612HP:0000612Iris coloboma0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0000612HP:0000612Iris coloboma0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000612HP:0000612Iris coloboma0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000612HP:0000612Iris coloboma0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000612HP:0000612Iris coloboma0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000612HP:0000612Iris coloboma0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000612HP:0000612Iris coloboma0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000612HP:0000612Iris coloboma0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0000612HP:0000612Iris coloboma0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000612HP:0000612Iris coloboma0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0000612HP:0000612Iris coloboma0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0000612HP:0000612Iris coloboma0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000612HP:0000612Iris coloboma0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000612HP:0000612Iris coloboma0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040282 - Frequent2
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000612HP:0000612Iris coloboma0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0000612HP:0000612Iris coloboma0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49


Genes (166) :AAAS ACTB ACTG1 ADNP AHI1 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BMP4 C12ORF57 CBY1 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 COL4A1 COX7B CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DHCR7 DISP1 DLL1 DYRK1A ELP4 ERF FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FKRP FKTN FLI1 FLNA FOXH1 GAS1 GDF3 GJA8 GLI2 GMPPA GNAQ GZF1 HCCS HMX1 HRAS HYLS1 IGBP1 INPP5E KATNIP KCTD1 KIAA0586 KIFBP KRAS LARGE1 LETM1 LRP2 MAF MAFB MBTPS2 MED12L MIR204 MKS1 MMP14 MMP2 MPDZ NAA10 NDUFB11 NELFA NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 PIBF1 PIGG PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PRR12 PTCH1 PTCH2 PUF60 RB1 RBP4 RERE ROR1 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPTBN1 SRD5A3 SUFU TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRAPPC11 TRIM37 VPS13B VSX2 WASHC5 WNT3 YAP1 ZEB2 ZIC2 ZNF423

Diseases (109) :ORPHA:869 ORPHA:2995 OMIM:243310 ORPHA:404448 ORPHA:475 ORPHA:220493 ORPHA:79326 OMIM:607906 OMIM:601110 ORPHA:391474 ORPHA:251066 OMIM:221900 OMIM:618012 ORPHA:899 ORPHA:709 OMIM:261540 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:139471 OMIM:218340 ORPHA:1777 ORPHA:1454 ORPHA:2318 ORPHA:7 ORPHA:280200 OMIM:243605 OMIM:214800 ORPHA:138 ORPHA:233 OMIM:309801 ORPHA:280 OMIM:194190 OMIM:604219 ORPHA:1377 ORPHA:857 ORPHA:818 ORPHA:268261 OMIM:617141 ORPHA:207 ORPHA:2791 ORPHA:2396 OMIM:147950 ORPHA:2308 OMIM:300244 ORPHA:88630 OMIM:613702 ORPHA:3205 OMIM:617662 OMIM:612109 ORPHA:2612 ORPHA:52055 OMIM:300472 OMIM:181270 ORPHA:66629 ORPHA:2143 OMIM:222448 OMIM:610202 ORPHA:85284 OMIM:618872 OMIM:616722 OMIM:249000 ORPHA:371428 OMIM:615219 ORPHA:955 ORPHA:2789 ORPHA:220497 ORPHA:2377 OMIM:616364 ORPHA:468678 ORPHA:861 OMIM:305600 ORPHA:2092 OMIM:619539 OMIM:109400 ORPHA:377 OMIM:610828 ORPHA:508498 ORPHA:1587 OMIM:616428 OMIM:615147 ORPHA:494344 OMIM:617654 ORPHA:3301 OMIM:216820 ORPHA:959 OMIM:607323 OMIM:611638 OMIM:613406 OMIM:157170 OMIM:212550 ORPHA:2250 ORPHA:1553 OMIM:601707 ORPHA:77298 OMIM:619475 OMIM:612713 ORPHA:921 OMIM:615145 ORPHA:1297 OMIM:113620 OMIM:253250 ORPHA:193 OMIM:610092 ORPHA:1473 OMIM:235730 ORPHA:261552 ORPHA:261537
 

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