Oculorenocerebellar syndrome

Preferred Label : Oculorenocerebellar syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Orc syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %257970;

Détails

Origin ID

257970;

UMLS CUI

C1850331;

Currated CISMeF NLP mapping
- Oculorenocerebellar syndrome [MeSH concept]
- Severe oculo-renal-cerebellar syndrome [ORDO Disease]
- oculorenocerebellar syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Glomerular sclerosis [HPO term]
- Intellectual disability [HPO term]
- Nephropathy [HPO term]
- Retinal degeneration [HPO term]
- Spastic diplegia [HPO term]
ORDO concept(s)
- Severe oculo-renal-cerebellar syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculorenocerebellar syndrome [MeSH concept]
- Severe oculo-renal-cerebellar syndrome [ORDO Disease]
- Severe oculo-renal-cerebellar syndrome (disorder) [SNOMED CT concept]
- oculorenocerebellar syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Severe oculo-renal-cerebellar syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients