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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

OMIM:230740

ORDO:2067

Subsets

DO_rare_slim

Synonyms

growth delay-alopecia-pseudoanodontia-optic atrophy syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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