Chorea, remitting, with nystagmus and cataract

Preferred Label : Chorea, remitting, with nystagmus and cataract;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive vs. X-linked recessive;

Prefixed ID : 601372;

Details

Origin ID

601372;

UMLS CUI

C1832422;

Currated CISMeF NLP mapping
- chorea, remitting with nystagmus and cataracts [MeSH concept]
- chorea, remitting with nystagmus and cataracts [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Chorea [HPO term]
- Monocular horizontal nystagmus [HPO term]
- Somatic mutation [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormality of urine homeostasis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- chorea, remitting with nystagmus and cataracts [MeSH Supplementary Concept]
- chorea, remitting with nystagmus and cataracts [MeSH concept]

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