| Metadata | |
|---|---|
| ID | DOID:0060842 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060842 Copy |
| Name | syndromic microphthalmia 16 |
| Definition | An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/30811539/, https://www.ncbi.nlm.nih.gov/pubmed/18783408, https://www.ncbi.nlm.nih.gov/pubmed/14662654 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
isolated microphthalmia 3 [EXACT] MCOP3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |