Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction

Preferred Label : Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction;

Symbol : RCDFRD;

Type : Phenotype, molecular basis known;

Prefixed ID : #268315;

Details

Origin ID

268315;

UMLS CUI

C1849333;

Currated CISMeF NLP mapping
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH concept]
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH Supplementary Concept]
Genes related to phenotype
- Ribonucleotide reductase regulatory tp53 inducible subunit m2b [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH Supplementary Concept]
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH concept]

Keyword's position in hierarchy(ies) :

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