Tapetoretinal degeneration with ataxia

Preferred Label : Tapetoretinal degeneration with ataxia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive form; heterogeneous;

Prefixed ID : 272600;

Details

Origin ID

272600;

UMLS CUI

C1848932;

Currated CISMeF NLP mapping
- Ataxia with tapetoretinal degeneration syndrome (disorder) [SNOMED CT concept]
- Ataxia-tapetoretinal degeneration syndrome [ORDO Disease]
- tapetoretinal degeneration with ataxia [MeSH concept]
- tapetoretinal degeneration with ataxia [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Rod-cone dystrophy [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Ataxia-tapetoretinal degeneration syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-tapetoretinal degeneration syndrome [ORDO Disease]
- tapetoretinal degeneration with ataxia [MeSH Supplementary Concept]
- tapetoretinal degeneration with ataxia [MeSH concept]

Keyword's position in hierarchy(ies) :

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