Fibrosis of extraocular muscles, congenital, with synergistic divergence

Preferred Label : Fibrosis of extraocular muscles, congenital, with synergistic divergence;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Congenital fibrosis syndrome with synergistic divergence; External ophthalmoplegia with synergistic divergence;

Included titles and symbols : External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation;

Inheritance : Autosomal dominant;

Prefixed ID : 609612;

Détails

Origin ID

609612;

UMLS CUI

C1865040;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation [MeSH concept]
- external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- fibrosis of extraocular muscles, congenital, with synergistic divergence [MeSH concept]
- fibrosis of extraocular muscles, congenital, with synergistic divergence [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Exotropia [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- fibrosis of extraocular muscles, congenital, with synergistic divergence [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, with synergistic divergence [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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