| Metadata | |
|---|---|
| ID | DOID:0111807 |
| Name | syndromic microphthalmia 9 |
| Definition | A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. https://www.ncbi.nlm.nih.gov/pubmed/17236193, https://www.ncbi.nlm.nih.gov/pubmed/17273977, https://www.ncbi.nlm.nih.gov/pubmed/26373900 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722458000 |
| Alternateids |
DOID:0050819 |
| Subsets |
DO_rare_slim |
| Synonyms |
anophthalmia-pulmonary hypoplasia syndrome [EXACT] anophthalmia/microphthalmia and pulmonary hypoplasia [EXACT] clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations [EXACT] Matthew-Wood syndrome [EXACT] pulmonary agenesis microphthalmi and diaphragmatic defect [EXACT] spear syndrome [EXACT] |
| Parent Relationships |