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
Accession: DOID:2219
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 .
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
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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 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9722314 PMID:9734640 PMID:9763559 PMID:9834222 PMID:9920835 PMID:10607701 PMID:11091187 PMID:11798398 PMID:12008952 PMID:12083483 PMID:12181054 PMID:12424194 PMID:12487785 PMID:15099289 PMID:15748238 PMID:15886807 PMID:16199547 PMID:16359514 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17488698 PMID:18065693 PMID:18422845 PMID:19170775 PMID:19172520 PMID:19339519 PMID:19691478 PMID:19805198 PMID:20020534 PMID:20081061 PMID:20492470 PMID:21113249 PMID:21454453 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22102273 PMID:22190468 PMID:22250950 PMID:22394243 PMID:22513797 PMID:22738334 PMID:23305224 PMID:24418945 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25827233 PMID:25944497 PMID:26096001 PMID:27469266 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28888044 PMID:28983057 PMID:29090484 PMID:29675921 PMID:29884513 PMID:30792900 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362 PMID:33276370 PMID:34355501 PMID:7529063 PMID:8111043 More...
RGD:10755476 , RGD:10755480
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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 PMID:7694683 PMID:8080992 PMID:8132570 PMID:8457479 PMID:9215749 PMID:9450787 PMID:9787162 PMID:10233432 PMID:10727448 PMID:11507099 PMID:11776310 PMID:11806996 PMID:12083483 PMID:12152649 PMID:12353082 PMID:14516468 PMID:14629479 PMID:14690453 PMID:15583747 PMID:16463284 PMID:16722529 PMID:16879215 PMID:18832906 PMID:19570064 PMID:19691478 PMID:19821948 PMID:20020534 PMID:20438394 PMID:20514620 PMID:20804530 PMID:21113249 PMID:21287507 PMID:21658138 PMID:22190468 PMID:22250950 PMID:22490273 PMID:22862885 PMID:24236036 PMID:24617330 PMID:24685245 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:27469266 PMID:28492532 PMID:28748566 PMID:28983057 PMID:30792900 PMID:30828542 PMID:31064749 PMID:31088191 PMID:31565851 PMID:32139434 PMID:32237906 PMID:32581362 PMID:34355501 PMID:1967954 More...
RGD:10755474
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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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 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9734640 PMID:10607701 PMID:11798398 PMID:12083483 PMID:15099289 PMID:16359514 PMID:16463284 PMID:19691478 PMID:20020534 PMID:21113249 PMID:21487445 PMID:21557682 PMID:22513797 PMID:24418945 PMID:25539746 PMID:25728920 PMID:25741868 PMID:27607598 PMID:27696190 PMID:28492532 PMID:28983057 PMID:29675921 PMID:31064749 PMID:34355501 More...
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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
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 PMID:20020534 PMID:25539746 PMID:25741868 PMID:28492532 PMID:28983057 PMID:30828542 PMID:34355501 More...
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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 PMID:16722529 PMID:18065693 PMID:19805198 PMID:20020534 PMID:20081061 PMID:21454453 PMID:22102273 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25944497 PMID:27469266 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32581362 PMID:33276370 PMID:34355501 PMID:22394243 PMID:23912132 PMID:21029361 PMID:19691478 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
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 PMID:22862885 PMID:24617330 PMID:25741868 PMID:28492532 PMID:19691478 PMID:23912132 PMID:22250950 More...
RGD:10755462 , RGD:10755470 , RGD:10755466
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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 PMID:30573501 PMID:31064749 PMID:34355501 More...
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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