Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to

Preferred Label : Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to;

Symbol : MPLPF;

CISMeF acronym : MPLPF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the DEAD-box helicase 41 gene (DDX41, 608170.0001);

Neoplasia : Myelogeneous leukemia, chronic; Lymphoma (1 family); Myelogeneous leukemia, acute;

Prefixed ID : #616871;

Détails

Origin ID

616871;

UMLS CUI

C4225174;

Automatic exact mappings (from CISMeF team)
- DDX41 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- DDX41-related hematologic malignancy predisposition syndrome [ORDO Disease]
- DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Dead-box helicase 41 [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Adult onset [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Eczema [HPO term]
- Erythroid dysplasia [HPO term]
- Incomplete penetrance [HPO term]
- Leukopenia [HPO term]
- Lymphoma [HPO term]
- Monocytosis [HPO term]
- Myelodysplasia [HPO term]
- Refractory anemia [HPO term]
- Systemic lupus erythematosus [HPO term]
ORDO concept(s)
- DDX41-related hematologic malignancy predisposition syndrome [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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