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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:thrombophilia due to thrombin defect
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Accession:DOID:0111907 term browser browse the term
Definition:A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: THPH1;   THROMBOPHILIA DUE TO FACTOR 2 DEFECT;   prothrombin-related thrombophilia
 primary_id: OMIM:188050
 xref: GARD:10815
For additional species annotation, visit the Alliance of Genome Resources.


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thrombophilia due to thrombin defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO OMIM NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT ClinVar
OMIM
PMID:2222810, PMID:2429850, PMID:6305407, PMID:6405779, PMID:8696333, PMID:8896550, PMID:8916933, PMID:9106528, PMID:9292507, PMID:9462220, PMID:9493607, PMID:9531249, PMID:9569177, PMID:9694698, PMID:9869612, PMID:10027711, PMID:10233438, PMID:10233439, PMID:10336270, PMID:10348710, PMID:10348711, PMID:10348712, PMID:10406905, PMID:10477778, PMID:10544935, PMID:11358905, PMID:11443298, PMID:11506076, PMID:11796466, PMID:11874997, PMID:11904676, PMID:15059842, PMID:15534175, PMID:16493002, PMID:19159930, PMID:19289024, PMID:19531787, PMID:19554541, PMID:19560233, PMID:19652888, PMID:20301327, PMID:21243428, PMID:21349849, PMID:23429074, PMID:24033266, PMID:25741868, PMID:27031503, PMID:28492532, PMID:30311386 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO OMIM NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT ClinVar
OMIM
PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18523009, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25741868, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28492532, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        blood coagulation disease 623
          thrombophilia 39
            thrombophilia due to thrombin defect 4
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                thrombophilia due to thrombin defect 4
paths to the root

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