Fibrosis of extraocular muscles, congenital, 3c

Preferred Label : Fibrosis of extraocular muscles, congenital, 3c;

Symbol : CFEOM3C;

CISMeF acronym : CFEOM3C;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Feom4 locus;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A (600638).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Balanced/unbalanced chromosomal translocation t(2,13)(q36,q11);

Prefixed ID : %609384;

Details

Origin ID

609384;

UMLS CUI

C2750404;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- Congenital fibrosis of extraocular muscles 3C [ICD-11 More detail]
Broader ORDO disease(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Currated CISMeF NLP mapping
- fibrosis of extraocular muscles, congenital, 3C [MeSH concept]
- fibrosis of extraocular muscles, congenital, 3C [MeSH Supplementary Concept]
DO Cross reference
- congenital fibrosis of the extraocular muscles [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital bilateral ptosis [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Highly arched eyebrow [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Pectus excavatum [HPO term]
- Restrictive partial external ophthalmoplegia [HPO term]
- Shallow orbital ridges [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped supraorbital ridges [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, 3C [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3C [MeSH concept]

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