Duane retraction syndrome 3 with or without deafness

Preferred Label : Duane retraction syndrome 3 with or without deafness;

Symbol : DURS3;

CISMeF acronym : DURS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MAF bZIP transcription factor B gene (MAFB, 608968.0007);

Prefixed ID : #617041;

Details

Origin ID

617041;

UMLS CUI

C4310752;

Currated CISMeF NLP mapping
- Duane retraction syndrome with congenital deafness [ORDO Disease]
Genes related to phenotype
- Maf bzip transcription factor b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Impaired ocular abduction [HPO term]
- Impaired ocular adduction [HPO term]
- Palpebral fissure narrowing on adduction [HPO term]
ORDO concept(s)
- Duane retraction syndrome [ORDO Disease]
- Duane retraction syndrome with congenital deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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