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:
Ontology: Human Disease   (DOID:0080731)
OTHER Ehlers-Danlos syndrome classic-like 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None