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DO Term : Ullrich congenital muscular dystrophy 1C [DOID:0060943] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
  • synonyms:
  • 620728,
  • OMIM:620728
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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