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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:factor VII deficiency
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Accession:DOID:2215 term browser browse the term
Definition:An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
Synonyms:exact_synonym: F7 deficiency;   Factor VII Deficiencies;   Hypoproconvertinemia;   hypoproconvertinemias;   stable deficiency
 related_synonym: FACTOR VII PADUA
 primary_id: MESH:D005168
 alt_id: OMIA:000361;   OMIM:227500
 xref: GARD:2238;   ICD10CM:D68.2;   NCI:C131631
For additional species annotation, visit the Alliance of Genome Resources.


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factor VII deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565, PMID:12181036, PMID:25741868 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F7 coagulation factor VII ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by OMIM:227500
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor VII Padua
ClinVar Annotator: match by term: Factor VII deficiency
OMIM
ClinVar
CTD
PMID:1634227, PMID:2070047, PMID:6812354, PMID:7919338, PMID:7974346, PMID:7981691, PMID:8242057, PMID:8244334, PMID:8364544, PMID:8652821, PMID:8883260, PMID:8940045, PMID:8978290, PMID:9414278, PMID:9576180, PMID:9716591, PMID:10862079, PMID:10984565, PMID:11091194, PMID:11110717, PMID:11129332, PMID:11139238, PMID:11529858, PMID:11931672, PMID:12181036, PMID:12472587, PMID:12903033, PMID:12935978, PMID:15142120, PMID:15456489, PMID:15735798, PMID:18282149, PMID:18976247, PMID:19751712, PMID:20040857, PMID:20735728, PMID:20885134, PMID:20958793, PMID:21902896, PMID:22180436, PMID:22873696, PMID:24033266, PMID:25582404, PMID:25741868, PMID:25828579, PMID:25952977, PMID:26105150, PMID:28492532, PMID:30311386, PMID:31064749, PMID:1634227, PMID:26083983 RGD:1601133, RGD:11049524 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          factor VII deficiency 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                factor VII deficiency 2
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.