pontocerebellar hypoplasia type 2B

Preferred Label : pontocerebellar hypoplasia type 2B;

MeSH note : aka PCH2B; mutations in TSEN2;

Origin ID

C567325;

UMLS CUI

C2676466;

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