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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 erythrocytosis 1
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Accession:DOID:0060652 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)
Synonyms:exact_synonym: ECYT1;   Erythrocytosis autosomal dominant benign;   PFCP;   benign familial polycythemia;   congenital erythrocytosis;   hereditary erythrocytosis;   primary familial and congenital polycythemia;   primary familial polycythemia
 primary_id: MESH:C536842
 alt_id: OMIM:133100;   RDO:0002545
 xref: ICD10CM:D75.0;   ORDO:90042
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial erythrocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor no_association ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
ClinVar Annotator: match by term: Familial erythrocytosis, 1
ClinVar Annotator: match by OMIM:133100
DNA:deletion mutation:exon:
DNA:nonsense mutation:exon:5881G>T(human)
DNA:nonsense mutation:cds:6002G>A(human)
DNA:nonsense mutation:cds:1251G>T(human)		 OMIM
ClinVar
RGD		 PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More... RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by OMIM:133100
ClinVar Annotator: match by term: Familial erythrocytosis, 1		 OMIM
ClinVar		 PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      hematopoietic system disease 1914
        polycythemia 28
          primary polycythemia 23
            familial erythrocytosis 1 4
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                familial erythrocytosis 1 4
paths to the root