Lissencephaly 3

Preferred Label : Lissencephaly 3;

Symbol : LIS3;

CISMeF acronym : LIS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-tubulin 1A gene (TUBA1A, 602529.0001);

Prefixed ID : #611603;

Details

Origin ID

611603;

UMLS CUI

C4305153;

Automatic exact mappings (from CISMeF team)
- Lissencephaly due to TUBA1A mutation [ORDO Disease]
Currated CISMeF NLP mapping
- Lissencephaly 3 [NCIt concept]
- Lissencephaly type 3 [ICD-11 More detail]
- Lissencephaly type 3 [ORDO Disease]
- Microlissencephaly [HPO term]
- lissencephaly 3 [MeSH concept]
- lissencephaly 3 [MeSH Supplementary Concept]
DO Cross reference
- lissencephaly [DO Concept]
- lissencephaly 3 [DO Concept]
Genes related to phenotype
- Tubulin, alpha-1a [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Agyria [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Lissencephaly due to TUBA1A mutation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly 3 [NCIt concept]
- 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 Supplementary Concept]
- lissencephaly 3 [MeSH concept]

Keyword's position in hierarchy(ies) :

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