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Metadata
ID DOID:0080727
Name Ehlers-Danlos syndrome arthrochalasia type 1
Definition An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/18409203/
Xrefs

MIM:130060

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal dominant disease

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