Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome-1

Preferred Label : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome-1;

NCIt synonyms : MPPH1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PIK3R2 gene, encoding phosphatidylinositol 3-kinase regulatory subunit beta. It is characterized by mild to severe intellectual disability, megencephaly, polymicrogyria, and postaxial polydactyly.;

Details

Origin ID

C202114;

UMLS CUI

C4012727;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PIK3R2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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