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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:Glanzmann's thrombasthenia
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Accession:DOID:2219 term browser browse the term
Definition:A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. (DO)
Synonyms:exact_synonym: GP IIb IIIa Complex, Deficiency Of;   GT;   Glanzmann Thrombasthenia, Type A;   Glanzmann thrombasthenia;   Glycoprotein Complex IIb IIIa, Deficiency Of;   Platelet Fibrinogen Receptor, Deficiency of;   Platelet Glycoprotein 2b 3a Deficiency;   deficiency of GP 2b 3a complex;   glycoprotein IIb/IIIa defect;   platelet glycoprotein IIb IIIa deficiency;   platelet-type bleeding disorder 2;   thrombasthenia;   thrombasthenia of Glanzmann and Naegeli;   thrombasthenias;   thrombocytasthenia
 primary_id: MESH:D013915
 alt_id: OMIA:001000
 xref: GARD:2478;   ICD10CM:D69.1;   NCI:C61249;   OMIM:PS273800;   ORDO:849
For additional species annotation, visit the Alliance of Genome Resources.


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Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:insertion/deletion:exon
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon		 ClinVar
CTD
RGD		 PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... RGD:10755476, RGD:10755480 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1371279 PMID:1430225 PMID:1602006 PMID:2392682 PMID:2428841 More... RGD:10755474 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar		 PMID:1317725 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 More... NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:25741868 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Glanzmann Thrombasthenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 OMIM
ClinVar		 PMID:2392682 PMID:2428841 PMID:8080992 PMID:11806996 PMID:15583747 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple		 OMIM
ClinVar
RGD		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:15099289 More... RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS		 DNA:missense mutations, deletions, insertion:exon:multiple
OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16		 MouseDO
ClinVar
RGD		 PMID:19570064 PMID:19821948 PMID:20804530 PMID:21287507 PMID:22490273 More... RGD:10755462, RGD:10755470, RGD:10755466 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 OMIM
ClinVar		 PMID:1065298 PMID:5681484 PMID:23927492 PMID:25741868 PMID:28041820 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        blood coagulation disease 830
          Inherited Blood Coagulation Disease 165
            Glanzmann's thrombasthenia 4
              Glanzmann Thrombasthenia 1 2
              Glanzmann Thrombasthenia 2 1
              Schlegelberger Grote Syndrome 0
              platelet-type bleeding disorder 16 2
              platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Hemic and Lymphatic Diseases 3279
        hematopoietic system disease 2822
          blood coagulation disease 830
            hemorrhagic disease 799
              blood platelet disease 313
                Glanzmann's thrombasthenia 4
                  Glanzmann Thrombasthenia 1 2
                  Glanzmann Thrombasthenia 2 1
                  Schlegelberger Grote Syndrome 0
                  platelet-type bleeding disorder 16 2
                  platelet-type bleeding disorder 17 1
paths to the root