SAMD9L-Related Ataxia Pancytopenia Syndrome

Preferred Label : SAMD9L-Related Ataxia Pancytopenia Syndrome;

NCIt synonyms : SAMD9L-ATXPC; ATXPC;

NCIt definition : An autosomal dominant inherited syndrome caused by germline mutations of the SAMD9L gene. It is characterized by cerebellar ataxia, cytopenia in all cell lineages, and predisposition to myelodysplasia and myeloid leukemia.;

NCI Metathesaurus CUI : CL1907426;

Details

Origin ID

C200422;

UMLS CUI

C1327919;

Currated CISMeF NLP mapping
- Ataxia pancytopenia syndrome (disorder) [SNOMED CT concept]
- Ataxia-pancytopenia syndrome [OMIM Phenotype]
- Ataxia-pancytopenia syndrome [ORDO Disease]
- myelocerebellar disorder [MeSH concept]
- myelocerebellar disorder [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia pancytopenia syndrome (disorder) [SNOMED CT concept]
- Ataxia-pancytopenia syndrome [OMIM Phenotype]
- myelocerebellar disorder [MeSH Supplementary Concept]
- myelocerebellar disorder [MeSH concept]
disease_has_molecular_abnormality
- Germline SAMD9L Gene Mutation [NCIt concept]
disease_mapped_to_gene
- SAMD9L Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- SAMD9L Gene [NCIt concept]
- SAMD9L wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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