Cataract-ataxia-deafness-retardation syndrome

Preferred Label : Cataract-ataxia-deafness-retardation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Polyneuropathy-cataract-deafness syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 212710;

Details

Origin ID

212710;

UMLS CUI

C0796123;

Currated CISMeF NLP mapping
- Cataract - ataxia - deafness [ICD-11 More detail]
- Cataract ataxia deafness [MeSH concept]
- Cataract-ataxia-deafness syndrome [ORDO Disease]
- Congenital cataract with ataxia and deafness syndrome (disorder) [SNOMED CT concept]
- cataract ataxia deafness [MeSH Supplementary Concept]
HPO term(s)
- Adult onset sensorineural hearing impairment [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Distal sensation loss [HPO term]
- Distal sensory impairment [HPO term]
- Intellectual disability, mild [HPO term]
- Polyneuropathy [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Cataract-ataxia-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract ataxia deafness [MeSH concept]
- Cataract-ataxia-deafness syndrome [ORDO Disease]
- cataract ataxia deafness [MeSH Supplementary Concept]

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