Nystagmus 2, congenital, autosomal dominant

Preferred Label : Nystagmus 2, congenital, autosomal dominant;

Symbol : NYS2;

CISMeF acronym : NYS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Nystagmus, congenital motor, 2;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).;

Inheritance : Autosomal dominant;

Prefixed ID : %164100;

Details

Origin ID

164100;

UMLS CUI

C1834079;

Broader ORDO disease(s)
- Congenital idiopathic nystagmus [ORDO Disease]
Currated CISMeF NLP mapping
- Nystagmus 2, congenital, autosomal dominant [MeSH concept]
- nystagmus 2, congenital, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- congenital nystagmus 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Horizontal nystagmus [HPO term]
- Infantile onset [HPO term]
- Mildly reduced visual acuity [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Congenital idiopathic nystagmus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nystagmus 2, congenital, autosomal dominant [MeSH concept]
- nystagmus 2, congenital, autosomal dominant [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital idiopathic nystagmus [ORDO Disease]

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