polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Preferred Label : polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;

MeSH note : mutation on ABHD12 protein, human;

Origin ID

C567203;

UMLS CUI

C2675204;

Currated CISMeF NLP mapping
- PHARC syndrome [DO Concept]
- Peripheral neuropathy, Fiskerstrand type [ICD-11 More detail]
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [OMIM Phenotype]
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) [SNOMED CT concept]
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- cataract [MeSH Descriptor]
- polyneuropathies [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [OMIM Phenotype]
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome [ORDO Disease]