ZFIN Human Disease: Ehlers-Danlos syndrome arthrochalasia type 2

OBO ID: DOID:0080728

OBO ID: DOID:0080728

Term Name:	Ehlers-Danlos syndrome arthrochalasia type 2	Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/18409203/
References:	OMIM:617821
Ontology:	Human Disease ( DOID:0080728 )

Relationships

is a type of:	autosomal dominant disease Ehlers-Danlos syndrome autosomal dominant disease Ehlers-Danlos syndrome Show first 5 Terms

OTHER Ehlers-Danlos syndrome arthrochalasia type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL1A2	col1a2	Ehlers-Danlos syndrome, arthrochalasia type, 2	617821

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None