Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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
 broad_synonym: RUNX1-RELATED DISORDER
 primary_id: MESH:C563324
 alt_id: MIM: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 Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,478,295...46,486,555
Ensembl chr11:46,478,274...46,486,558 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:46,701,940...46,799,049
Ensembl chr11:46,701,940...46,799,096 		JBrowse link
G Runx1 RUNX family 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: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like 		OMIM
CTD
ClinVar		 PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More... NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      hematopoietic system disease 1590
        blood coagulation disease 501
          Inherited Blood Coagulation Disease 101
            Familial Platelet Disorder with Associated Myeloid Malignancy 3
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Hemic and Lymphatic Diseases 1951
        hematopoietic system disease 1590
          Hematologic Neoplasms 896
            hematologic cancer 896
              leukemia 599
                myeloid leukemia 390
                  acute myeloid leukemia 316
                    Familial Platelet Disorder with Associated Myeloid Malignancy 3
paths to the root