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Metadata
ID	DOID:0111725
Name	geleophysic dysplasia 1
Definition	A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. https://www.ncbi.nlm.nih.gov/pubmed/21683322
Xrefs	MIM:231050
Synonyms	GPHYSD1 [EXACT]
Parent Relationships	is_a geleophysic dysplasia is_a autosomal recessive disease