ZFIN Human Disease: Ehlers-Danlos syndrome cardiac valvular type

OBO ID: DOID:0080730

Term Name:	Ehlers-Danlos syndrome cardiac valvular type		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/16816023/
References:	OMIM:225320
Ontology:	Human Disease ( DOID:0080730 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL1A2	col1a2	Ehlers-Danlos syndrome, cardiac valvular type	225320

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)