Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital myasthenic syndrome 19
Summary
- Synonym
-
- CMS19
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110673
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004885 | Episodic respiratory distress |
| HP:0011469 | Nasal regurgitation |
| HP:0003701 | Proximal muscle weakness |
| HP:0010307 | Stridor |
| HP:0012801 | Narrow jaw |
| HP:0005943 | Respiratory arrest |
| HP:0003693 | Distal amyotrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0011968 | Feeding difficulties |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
