Nystagmus 6, congenital, X-linked

Preferred Label : Nystagmus 6, congenital, X-linked;

Symbol : NYS6;

CISMeF acronym : NYS6;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the G Protein-coupled receptor 143 gene (GPR143, 300808.0009).;

Prefixed ID : #300814;

Details

Origin ID

300814;

UMLS CUI

C3151752;

Automatic exact mappings (from CISMeF team)
- congenital nystagmus 6 [DO Concept]
DO Cross reference
- congenital nystagmus 6 [DO Concept]
Genes related to phenotype
- G protein-coupled receptor 143 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperopic astigmatism [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Hypopigmentation of the fundus [HPO term]
ORDO concept(s)
- Congenital idiopathic nystagmus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Congenital idiopathic nystagmus [ORDO Disease]

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