pontocerebellar hypoplasia type 2C

Preferred Label : pontocerebellar hypoplasia type 2C;

MeSH note : mutations in TSEN34; aka PCH2C;

Origin ID

C567324;

UMLS CUI

C2676465;

Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia, type 2c [OMIM Phenotype]
- pontocerebellar hypoplasia type 2C [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 2C [DO Concept]
MeSH term(s) associated for indexing
- cerebellar diseases [MeSH Descriptor]
- cerebellum [MeSH Descriptor]
- pons [MeSH Descriptor]
Record concept(s)
- pontocerebellar hypoplasia type 2C [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pontocerebellar hypoplasia, type 2c [OMIM Phenotype]
- pontocerebellar hypoplasia type 2C [DO Concept]