ZFIN Human Disease: Ehlers-Danlos syndrome musculocontractural type 1

OBO ID: DOID:0080736

Term Name:	Ehlers-Danlos syndrome musculocontractural type 1		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	OMIM:601776
Ontology:	Human Disease ( DOID:0080736 )

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 musculocontractural type 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHST14	chst14	Ehlers-Danlos syndrome, musculocontractural type 1	601776

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None