loading...| Preferred Name |
Coloboma, ocular, autosomal dominant |
|
| Synonyms |
COAD |
|
| Definitions |
(COAD) - A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and|or optic nerve defects without or with microphthalmia or even anophthalmia. |
|
| ID |
http://identifiers.org/omim/120200 |
|
| altLabel |
COAD |
|
| definition |
(COAD) - A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and|or optic nerve defects without or with microphthalmia or even anophthalmia. |
|
| id |
OMIM:120200 |
|
| notation |
OMIM:120200 |
|
| prefLabel |
Coloboma, ocular, autosomal dominant |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/120200 | GEXO | SAME_URI | |
| http://identifiers.org/omim/120200 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007350 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007350 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007350 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007350 | DOVES | LOOM | |
| http://identifiers.org/omim/120200 | GEXO | LOOM | |
| http://identifiers.org/omim/120200 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/120200 | OMIM | LOOM |