Mental Retardation, Autosomal Recessive 34

Preferred Label : Mental Retardation, Autosomal Recessive 34;

NCIt synonyms : MRT34; Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CRADD gene, encoding death domain-containing protein CRADD. It is characterized by mild to moderate intellectual disability and lissencephaly with anterior-predominant pachygyria.;

Details

Origin ID

C153179;

UMLS CUI

C3281044;

CISMeF manual mappings
- Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly [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
- CRADD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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