Term ID: |
5534 |
Name: |
Transient myeloproliferative syndrome |
Synonym: |
TMD; Transient leukaemia of Down syndrome; Transient leukemia of Down syndrome; Transient myeloproliferative disorder |
Definition: |
A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. |
Comments: |
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Reference: |
HP:0005534 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0005534 | HP:0005534 | Transient myeloproliferative syndrome | 0 | CL E G H | | | | | | | | | | |
Genes (0) :
Diseases (0) : |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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