Term Name: | GAPO syndrome |
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Synonyms: | growth delay-alopecia-pseudoanodontia-optic atrophy 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. |
Ontology: | Human Disease [DOID:0112249] ( DOID:0112249 ) |