Brachydactyly-nystagmus-cerebellar ataxia

Preferred Label : Brachydactyly-nystagmus-cerebellar ataxia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? Autosomal dominant;

Prefixed ID : 113400;

Details

Origin ID

113400;

UMLS CUI

C1862099;

Currated CISMeF NLP mapping
- Brachydactyly-Nystagmus-Cerebellar ataxia [MeSH concept]
- Brachydactyly-Nystagmus-Cerebellar ataxia [MeSH Supplementary Concept]
- Brachydactyly-nystagmus-cerebellar ataxia syndrome [ORDO Disease]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Brachydactyly-nystagmus-cerebellar ataxia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly-Nystagmus-Cerebellar ataxia [MeSH Supplementary Concept]
- Brachydactyly-Nystagmus-Cerebellar ataxia [MeSH concept]
- Brachydactyly-nystagmus-cerebellar ataxia syndrome [ORDO Disease]

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