Search Ontology:
Human Disease
Ullrich congenital muscular dystrophy 2
- Term ID
- DOID:0060948
- Synonyms
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- Definition
- 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. https://pubmed.ncbi.nlm.nih.gov/24334604/
- References
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- GARD:4769
- MIM:616470
- ORDO:75840
- Ontology
- Human Disease ( DOID:0060948 )
- is a type of
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