Fibrosis of extraocular muscles, congenital, 2

Preferred Label : Fibrosis of extraocular muscles, congenital, 2;

Symbol : CFEOM2;

CISMeF acronym : CFEOM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Feom2 locus; Fibrosis of extraocular muscles, congenital, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the paired-like homeobox 2a gene (PHOX2A, 602753.0001);

Prefixed ID : #602078;

Details

Origin ID

602078;

UMLS CUI

C1865915;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- Congenital fibrosis of extraocular muscles 2 [ICD-11 More detail]
- paired like homeobox 2A [ORDO Gene]
- paired like homeobox 2A [HGNC gene]
- symbol withdrawn FEOM2 [HGNC gene]
Broader ORDO disease(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Currated CISMeF NLP mapping
- fibrosis of extraocular muscles, congenital, 2 [MeSH concept]
- fibrosis of extraocular muscles, congenital, 2 [MeSH Supplementary Concept]
DO Cross reference
- congenital fibrosis of the extraocular muscles [DO Concept]
Genes related to phenotype
- Paired-like homeobox 2a [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Exotropia [HPO term]
- Hypertropia [HPO term]
- Hypotropia [HPO term]
- Restrictive external ophthalmoplegia [HPO term]
- Restrictive ophthalmoplegia [HPO term]
- Severe limitations of eye movements [HPO term]
- Visual impairment [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, 2 [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 2 [MeSH concept]

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