OBO ID: DOID:0080738
Term Name: Ehlers-Danlos syndrome spondylodysplastic type 1 Search Ontology:
Synonyms:
Definition: An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/23956117/
References:
Ontology: Human Disease   (DOID:0080738)
OTHER Ehlers-Danlos syndrome spondylodysplastic type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None