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Ullrich congenital muscular dystrophy

http://purl.obolibrary.org/obo/DOID_0050558

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. [ http://purl.obolibrary.org/obo/ECO_0007638 ]

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Term info

Label

Ullrich congenital muscular dystrophy

Synonyms

ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0050558

Term relations

Subclass of:

autosomal dominant disease
autosomal recessive disease
congenital muscular dystrophy
has material basis in some autosomal recessive inheritance
has material basis in some autosomal dominant inheritance