loading...| Preferred Name | Microphthalmia, syndromic, 6 | |
| Synonyms |
MCOPS6 |
|
| Definitions |
(MCOPS6) - A disease characterized by microphthalmia|anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia|anophthalmia occurs in association with syndromes that include non-ocular abnormalities. |
|
| ID |
http://identifiers.org/omim/607932 |
|
| altLabel |
MCOPS6 |
|
| definition |
(MCOPS6) - A disease characterized by microphthalmia|anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia|anophthalmia occurs in association with syndromes that include non-ocular abnormalities. |
|
| id |
OMIM:607932 |
|
| notation |
OMIM:607932 |
|
| prefLabel |
Microphthalmia, syndromic, 6 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/607932 | GEXO | SAME_URI | |
| http://identifiers.org/omim/607932 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/OMIM_607932 | CCO | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566440 | RH-MESH | LOOM | |
| http://identifiers.org/omim/607932 | GEXO | LOOM | |
| http://identifiers.org/omim/607932 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C566440 | MESH | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/607932 | OMIM | LOOM |