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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: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 16091
    disease of anatomical entity 15341
      hematopoietic system disease 1642
        hemorrhagic disease 614
          factor VII deficiency 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                factor VII deficiency 2
paths to the root