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:
Ontology: Human Disease   (DOID:0080736)
OTHER Ehlers-Danlos syndrome musculocontractural type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHST14 Ehlers-Danlos syndrome, musculocontractural type 1 601776
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None