Ophthalmoplegia, external, and myopia

Preferred Label : Ophthalmoplegia, external, and myopia;

Symbol : OPEM;

CISMeF acronym : OPEM;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Myopia-ophthalmoplegia syndrome;

Inheritance : X-linked;

Prefixed ID : %311000;

Details

Origin ID

311000;

UMLS CUI

C1839577;

Currated CISMeF NLP mapping
- ophthalmoplegia, external, and myopia [MeSH concept]
- ophthalmoplegia, external, and myopia [MeSH Supplementary Concept]
HPO term(s)
- Abnormal pupillary function [HPO term]
- Absent Achilles reflex [HPO term]
- Absent patellar and Achilles reflexes [HPO term]
- Absent patellar reflexes [HPO term]
- Chorioretinal degeneration [HPO term]
- Myopia [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Retinal degeneration [HPO term]
- Spina bifida [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ophthalmoplegia, external, and myopia [MeSH Supplementary Concept]
- ophthalmoplegia, external, and myopia [MeSH concept]

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