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Ontology Browser
Term:
Ullrich Congenital Muscular Dystrophy 1B (DOID:9005971)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Ullrich Congenital Muscular Dystrophy 1A  
Ullrich Congenital Muscular Dystrophy 1B  
A disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Caused by homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
Ullrich Congenital Muscular Dystrophy 1C  
Ullrich Congenital Muscular Dystrophy 2  

Synonyms
Exact Synonyms: UCMD1B
Related Synonyms: UCMD1A/1B, DIGENIC ;   ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC
Primary IDs: OMIM:620727
Definition Sources: OMIM:620727

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