Lissencephaly 3

Preferred Label : Lissencephaly 3;

NCIt synonyms : LIS3;

NCIt definition : An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.;

Details

Origin ID

C148461;

UMLS CUI

C4305153;

Automatic exact mappings (from CISMeF team)
- lissencephaly 3 [DO Concept]
Currated CISMeF NLP mapping
- Lissencephaly 3 [OMIM Phenotype]
- Lissencephaly type 3 [ORDO Disease]
- Type 3 lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly 3 [MeSH Supplementary Concept]
- lissencephaly 3 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly 3 [OMIM Phenotype]
- Lissencephaly due to tubulin alpha 1A mutation (disorder) [SNOMED CT concept]
- Lissencephaly type 3 [ORDO Disease]
- Type 3 lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly 3 [MeSH concept]
- lissencephaly 3 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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