| Metadata | |
|---|---|
| ID | DOID:0111800 |
| Name | syndromic microphthalmia 12 |
| Definition | A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. https://www.ncbi.nlm.nih.gov/pubmed/17506106, https://www.ncbi.nlm.nih.gov/pubmed/24075189 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOPS12 [EXACT] microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects [EXACT] |
| Parent Relationships |