Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5;

Symbol : PEOB5;

CISMeF acronym : PEOB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal recessive 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the topoisomerase, DNA, III, alpha gene (TOP3A, 601243.0004);

Prefixed ID : #618098;

Details

Origin ID

618098;

UMLS CUI

C4748184;

Currated CISMeF NLP mapping
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DO Concept]
DO Cross reference
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DO Concept]
Genes related to phenotype
- Topoisomerase, dna, III, alpha [OMIM gene]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Cerebellar atrophy [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Exercise intolerance [HPO term]
- Nasal regurgitation [HPO term]
- Neck muscle weakness [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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