Ehlers-Danlos syndrome arthrochalasia type 1

Term ID

DOID:0080727

Synonyms

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/

References

• OMIM:130060

Ontology

Human Disease   ( DOID:0080727 )