| Disease Browser
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Parent Node:
 Eye Abnormalities (D005124) | ..Starting node
.. Coloboma (D003103)
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Child Nodes:
| | ........Alsing syndrome (C536588) | | ........Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma (C566271) | | ........Arima syndrome (C537430) | | ........Baraitser Rodeck Garner syndrome (C537906) | | ........Biemond Syndrome II (C565902) | | ........Biemond syndrome type 2 (C535439) | | ........Brachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484) | | ........Calloso-genital dysplasia (C537962) | | ........COACH syndrome (C536430) | | ........Coloboma of Alar-nasal cartilages with telecanthus (C535967) | | ........Coloboma of Macula and Skeletal Anomalies (C565686) | | ........Coloboma of macula type B brachydactyly (C535969) | | ........Coloboma of optic nerve (C535970) | | ........Coloboma, cleft lip/palate and mental retardation syndrome (C535971) | | ........Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173) | | ........Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623) | | ........Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509) | | ........Hereditary macular coloboma (C535968) | | ........Hittner Hirsch Kreh syndrome (C538323) | | ........Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373) | | ........Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462) | | ........Kahrizi Syndrome (C567196) | | ........Macrosomia obesity macrocephaly ocular abnormalities (C535812) | | ........Marles Greenberg Persaud syndrome (C536022) | | ........Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135) | | ........Microphthalmia and mental deficiency (C537462) | | ........Microphthalmia associated with colobomatous cyst (C537463) | | ........Microphthalmia, Cataracts, and Iris Abnormalities (C566448) | | ........Microphthalmia, Isolated, with Coloboma 1 (C564531) | | ........Microphthalmia, Isolated, with Coloboma 2 (C565300) | | ........Microphthalmia, Isolated, with Coloboma 3 (C566447) | | ........Microphthalmia, Isolated, with Coloboma 4 (C565378) | | ........Microphthalmia, Isolated, with Coloboma 5 (C566899) | | ........MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703) | | ........Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma (C567512) | | ........Nasopalpebral lipoma coloboma syndrome (C538338) | | ........Otodental Dysplasia (C563482) | | ........Papillorenal syndrome (C537168) | | ........Pfeiffer Mayer syndrome (C537888) | | ........Temtamy syndrome (C536959) | | ........Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769) | | ........Yim Ebbin syndrome (C536713) | | ........Zunich neuroectodermal syndrome (C536729) |
Sister Nodes: | ..Ablepharon macrostomia syndrome (C535557)
| ..Aniridia (D015783)  10
| ..Ankyloblepharon filiforme adnatum cleft palate (C536373)
| ..Anophthalmos (D000853) 8
| ..Anterior segment mesenchymal dysgenesis (C537775)
| ..Asymmetric Short Stature Syndrome (C566248)
| ..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Axenfeld-Rieger syndrome (C535679) 3
| ..Blepharophimosis (D016569) 17
| ..Blue diaper syndrome (C536239)
| ..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
| ..Chemke Oliver Mallek syndrome (C535922)
| ..Chromosome 6pter-P24 Deletion Syndrome (C567239)
| ..CODAS syndrome (C536434)
| ..Cole Carpenter syndrome (C535963)
| ..Coloboma (D003103) 43
| ..Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
| ..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
| ..Dwarfism stiff joint ocular abnormalities (C535724)
| ..Ectopia Lentis (D004479) 13
| ..FACES syndrome (C536384)
| ..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
| ..Fraser Syndrome (D058497)
| ..Fronto-facio-nasal dysplasia (C538063)
| ..Frontoocular Syndrome (C565340)
| ..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
| ..Hay-Wells syndrome (C535847)
| ..Hydrophthalmos (D006871)
| ..Iridogoniodysgenesis and skeletal anomalies (C535534)
| ..Iridogoniodysgenesis type1 (C535535)
| ..Iridogoniodysgenesis, dominant type (C535536)
| ..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
| ..Joubert syndrome 1 (C536293)
| ..Joubert syndrome 2 (C536294)
| ..Joubert Syndrome 9 (C567364)
| ..Kapur Toriello syndrome (C537008)
| ..Kaufman oculocerebrofacial syndrome (C537013)
| ..Macrophthalmia, Colobomatous, with Microcornea (C566533)
| ..Maxillofacial Dysostosis (C563599)
| ..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
| ..Microcornea, glaucoma, and absent frontal sinuses (C537552)
| ..Microphthalmos (D008850) 57
| ..MOMES Syndrome (C564660)
| ..Nephrotic syndrome ocular anomalies (C536403)
| ..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
| ..Oculoauricular Syndrome (C567416)
| ..Oculoauriculofrontonasal syndrome (C537865)
| ..Oculocerebrocutaneous syndrome (C538088)
| ..Oculodentodigital Dysplasia (C563160)
| ..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
| ..Oculomaxillofacial dysostosis (C537736)
| ..Oculopalatocerebral Syndrome (C564935)
| ..Oculopalatoskeletal syndrome (C537738)
| ..Oculorenocerebellar syndrome (C537739)
| ..Pena Shokeir syndrome Type 2 (C536646)
| ..Persistent Hyperplastic Primary Vitreous (D054514)
| ..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
| ..Peters anomaly (C537884)
| ..PHACE association (C537892)
| ..Pierson syndrome (C537185)
| ..Popliteal Pterygium Syndrome (C562509)
| ..Popliteal Pterygium Syndrome, Lethal Type (C564874)
| ..Prepapillary Vascular Loops (C563287)
| ..Pupil, Egg-Shaped (C566731)
| ..Pupillary Membrane, Persistence Of (C562700)
| ..Retinal Dysplasia (D015792) 2
| ..Rieger syndrome 2 (C535680)
| ..Rozin Hertz Goodman syndrome (C535876)
| ..Torsion dystonia with onset in infancy (C536969)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 2488 |
| Name: | Coloboma |
| Definition: | Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. |
| Alternative IDs: | OMIM:120200 |
| ParentIDs: | MESH:D005124 |
| TreeNumbers: | C11.250.110 |C16.131.384.282 |
| Synonyms: | COI |Coloboma, Ocular |COLOBOMA, OCULAR, AUTOSOMAL DOMINANT |Coloboma Of Iris, Choroid, And Retina |Colobomas |Coloboma, Uveoretinal |Ocular Coloboma |Uveoretinal Coloboma |
| Slim Mappings: | Congenital abnormality|Eye disease |
| Reference: |
MedGen: D003103
MeSH: D003103
OMIM: 120200;
Genes: PAX6; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_020634.1(GDF3):c.914T>C (p.Leu305Pro) | 9573 | GDF3 | Pathogenic | 387906945 | RCV000033195; RCV000023557; | N | MedGen:C0009363,OMIM:120200,ORPHA:194,SNOMED CT:92828000,SNOMED CT:93390002; MedGen:C3150969,OMIM:613704 | 12 | 7842655 | 7842655 | NM_020634.1:c.914T>C | NP_065685.1:p.Leu305Pro | NC_000012.11:g.7842655A>G | OMIM Allelic Variant:606522.0002 | C0009363 120200 Congenital ocular coloboma; C3150969 613704 Microphthalmia, isolated 7 | | | | NM_000280.4(PAX6):c.773T>C (p.Phe258Ser) | 5080 | PAX6 | Pathogenic | 121907925 | RCV000003645; RCV000003646; | N | MedGen:C0009363,OMIM:120200,ORPHA:194,SNOMED CT:92828000,SNOMED CT:93390002; MedGen:C0155299,OMIM:120430,SNOMED CT:17541006 | 11 | 31815343 | 31815343 | NM_000280.4:c.773T>C | NP_000271.1:p.Phe258Ser | NC_000011.9:g.31815343A>G | OMIM Allelic Variant:607108.0019 | C0155299 120430 Coloboma of optic disc; C0009363 120200 Congenital ocular coloboma | | | | NM_001130145.2(YAP1):c.370C>T (p.Arg124Ter) | 10413 | YAP1 | Pathogenic | 587777249 | RCV000106407; | N | MedGen:C0009363,OMIM:120200,ORPHA:194,SNOMED CT:92828000,SNOMED CT:93390002 | 11 | 101984923 | 101984923 | NM_001130145.2:c.370C>T | NP_001123617.1:p.Arg124Ter | 11:g.101984923C>T | OMIM Allelic Variant:606608.0001 | C0009363 120200 Congenital ocular coloboma | | |
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