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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.


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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
PMID:1653276, PMID:1954391, PMID:4052634, PMID:7795221, PMID:8093406, PMID:8174675, PMID:8506290, PMID:8608241, PMID:9292543, PMID:9394420, PMID:9488636, PMID:9649565, PMID:10498627, PMID:17488692, PMID:24115288, PMID:26010769, PMID:28492532, PMID:9192789, PMID:11929803, PMID:9394420, PMID:8506290, PMID:20700488 RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
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, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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, PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        polycythemia 25
          primary polycythemia 21
            familial erythrocytosis 1 4
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                familial erythrocytosis 1 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.