Pontocerebellar Hypoplasia Type 1B

Preferred Label : Pontocerebellar Hypoplasia Type 1B;

NCIt synonyms : PCH1B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the EXOSC3 gene, encoding exosome complex component RRP40. It is characterized by severe intellectual disability, skeletal muscle weakness, and seizures.;

Details

Origin ID

C190872;

UMLS CUI

C3553449;

Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia, type 1b [OMIM Phenotype]
- pontocerebellar hypoplasia type 1B [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pontocerebellar hypoplasia, type 1b [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- EXOSC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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