| Metadata | |
|---|---|
| ID | DOID:0112249 |
| Name | GAPO syndrome |
| Definition | A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. https://pubmed.ncbi.nlm.nih.gov/25045128/, https://pubmed.ncbi.nlm.nih.gov/6507471/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
growth delay-alopecia-pseudoanodontia-optic atrophy syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |