ZFIN Human Disease: Ehlers-Danlos syndrome spondylodysplastic type 1

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:	OMIM:130070
Ontology:	Human Disease ( DOID:0080738 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
B4GALT7	b4galt7	Ehlers-Danlos syndrome, spondylodysplastic type, 1	130070

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)