Nystagmus 8, congenital, autosomal recessive

Preferred Label : Nystagmus 8, congenital, autosomal recessive;

Symbol : NYS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #257400;

Details

Origin ID

257400;

UMLS CUI

C3151571;

Automatic exact mappings (from CISMeF team)
- autosomal recessive congenital nystagmus [DO Concept]
Broader ORDO disease(s)
- Congenital idiopathic nystagmus [ORDO Disease]
DO Cross reference
- autosomal recessive congenital nystagmus [DO Concept]
Genes related to phenotype
- Roundabout guidance receptor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital nystagmus [HPO term]
- Nystagmus [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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