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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 ADAMTSL2 on chromosome 9q34.2.
https://www.ncbi.nlm.nih.gov/pubmed/21683322
Xrefs

OMIM:231050

Synonyms

GPHYSD1 [EXACT]

Parent Relationships

is_a geleophysic dysplasia

is_a autosomal recessive disease

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