Schwannomatosis 2

Preferred Label : Schwannomatosis 2;

Symbol : SWNTS2;

CISMeF acronym : SWNTS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (LZTR1, 600574.0001);

Neoplasia : Multiple schwannomas;

Prefixed ID : #615670;

Details

Origin ID

615670;

UMLS CUI

C3810283;

Automatic exact mappings (from CISMeF team)
- LZTR1 wt Allele [NCIt concept]
DO Cross reference
- neurilemmomatosis [DO Concept]
Genes related to phenotype
- Leucine zipper-like transcriptional regulator 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Schwannoma [HPO term]
- Spinal cord tumor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Full schwannomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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