Search Ontology:
Human Disease

Ullrich congenital muscular dystrophy 2

Term ID
DOID:0060948
Synonyms
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
Ontology
Human Disease   ( DOID:0060948 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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