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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Ullrich congenital muscular dystrophy 1A  
Ullrich congenital muscular dystrophy 1B  
Ullrich congenital muscular dystrophy 1C  
Ullrich congenital muscular dystrophy 2  
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. (DO)

Synonyms
Exact Synonyms: UCMD2
Broad Synonyms: COL12A1- RELATED DISORDER ;   COL12A1-RELATED CONDITION
Xrefs: MIM:616470 ;   MONDO:0014654
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/24334604/ "DO" "DO"

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