OBO ID: DOID:0080727
Term Name: Ehlers-Danlos syndrome arthrochalasia type 1 Search Ontology:
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 on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/18409203/
References:
Ontology: Human Disease   (DOID:0080727)
OTHER Ehlers-Danlos syndrome arthrochalasia type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1 130060
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None