ZFIN Human Disease: Ullrich congenital muscular dystrophy

OBO ID: DOID:0050558

Term Name:	Ullrich congenital muscular dystrophy		Search Ontology:
Synonyms:	ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy
Definition:	A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy
References:	GARD:4769 OMIM:254090
Ontology:	Human Disease ( DOID:0050558 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease congenital muscular dystrophy autosomal dominant disease autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

OTHER Ullrich congenital muscular dystrophy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL6A1	col6a1	Ullrich congenital muscular dystrophy 1A	254090

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO1-col6a1	standard conditions	Telfer et al., 2010
AB + MO1-col6a3	standard conditions	Telfer et al., 2010
WT + MO1-col6a1	standard conditions	Zulian et al., 2014

PHENOTYPE No data available

CITATIONS (2)