Search Ontology:
Human Disease
Ullrich congenital muscular dystrophy 1A
- Term ID
- DOID:0060946
- Synonyms
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- Definition
- 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, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/23622361/
- References
- Ontology
- Human Disease ( DOID:0060946 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| COL6A1 | Ullrich congenital muscular dystrophy 1A | Ullrich congenital muscular dystrophy 1A | 254090 |
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Zebrafish Models
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