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Ontology Browser
Term:
Ullrich congenital muscular dystrophy 1C (DOID:0060943)
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  
Ullrich congenital muscular dystrophy 1C  
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. (DO)
Ullrich congenital muscular dystrophy 2  

Synonyms
Exact Synonyms: UCMD1C
Alternate IDs: DOID:9006954
Xrefs: MIM:620728 ;   MONDO:0958236
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO" "DO"

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