Oculopharyngodistal myopathy 3

Preferred Label : Oculopharyngodistal myopathy 3;

Symbol : OPDM3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619473;

Origin ID

619473;

UMLS CUI

C5561956;

Genes related to phenotype
- Notch2 n-terminal-like C [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Conductive hearing impairment [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Generalized amyotrophy [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF protein [HPO term]
- Increased endomysial connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Internally nucleated skeletal muscle fibers [HPO term]
- Leukoencephalopathy [HPO term]
- Limb muscle weakness [HPO term]
- Middle age onset [HPO term]
- Miosis [HPO term]
- Neck muscle weakness [HPO term]
- Ophthalmoplegia [HPO term]
- Photophobia [HPO term]
- Pigmentary retinopathy [HPO term]
- Ptosis [HPO term]
- Rimmed vacuoles [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tremor [HPO term]
- Weakness of facial musculature [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Oculopharyngodistal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]