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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Familial Platelet Disorder with Associated Myeloid Malignancy
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Accession:DOID:9003178 term browser browse the term
Synonyms:exact_synonym: FPD/AML;   FPDAML;   FPDMM;   HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGIC CANCER PREDISPOSITION SYNDROME;   HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME ASSOCIATED WITH RUNX1;   PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY;   Platelet Disorder, Aspirin-Like;   Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia
 primary_id: MESH:C563324
 alt_id: OMIM:601399;   RDO:0012615
 xref: NCI:C162696



show annotations for term's descendants           Sort by:
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,404,752...93,407,226
Ensembl chr16:93,402,741...93,407,393
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:18723428 PMID:24100448 PMID:28492532 PMID:32581362 NCBI chr16:92,295,035...92,338,129
Ensembl chr16:92,282,624...92,338,131
JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356
JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chr16:92,089,277...92,095,021
Ensembl chr16:92,089,277...92,095,017
JBrowse link
G LOC109648312 Runx1 +23 hematopoietic stem cell enhancer ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr16:92,598,384...92,598,916 JBrowse link
G Mir802 microRNA 802 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,166,608...93,166,704
Ensembl chr16:93,166,608...93,166,704
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:91,855,224...91,909,115
Ensembl chr16:91,855,158...91,909,115
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755
JBrowse link
G Runx1 runt related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like
OMIM
CTD
ClinVar
PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr16:93,380,345...93,401,693
Ensembl chr16:93,380,345...93,400,951
JBrowse link
G Slc5a3 solute carrier family 5 (inositol transporters), member 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:91,855,210...91,884,361
Ensembl chr16:91,855,210...91,884,361
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr16:92,098,131...92,109,929
Ensembl chr16:92,098,174...92,109,929
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      hematopoietic system disease 3269
        blood coagulation disease 942
          Inherited Blood Coagulation Disease 204
            Familial Platelet Disorder with Associated Myeloid Malignancy 12
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Hemic and Lymphatic Diseases 3772
        hematopoietic system disease 3269
          Hematologic Neoplasms 1011
            hematologic cancer 1011
              leukemia 603
                myeloid leukemia 401
                  acute myeloid leukemia 330
                    Familial Platelet Disorder with Associated Myeloid Malignancy 12
paths to the root