Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080727 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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