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DO Term : Ullrich congenital muscular dystrophy 2 [DOID:0060948] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.

synonyms:
ORDO:75840,
GARD:4769,
616470,
OMIM:616470

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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