Metadata | |
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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 | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |