ZFIN Human Disease: Ehlers-Danlos syndrome classic-like 1

OBO ID: DOID:0080731

Term Name:	Ehlers-Danlos syndrome classic-like 1		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	OMIM:606408
Ontology:	Human Disease ( DOID:0080731 )

Relationships

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

OTHER Ehlers-Danlos syndrome classic-like 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TNXB	tnxba tnxbb	Ehlers-Danlos syndrome, classic-like, 1	606408

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None