Ataxia-Pancytopenia Syndrome

Preferred Label : Ataxia-Pancytopenia Syndrome;

NCIt synonyms : ATXPC;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.;

Details

Origin ID

C176909;

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 Supplementary Concept]
- myelocerebellar disorder [MeSH 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]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- SAMD9L Gene [NCIt concept]
related_to_genetic_biomarker
- SAMD9L Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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