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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:A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. (DO)
Synonyms:exact_synonym: F7 deficiency;   factor VII deficiencies;   hypoproconvertinemia;   hypoproconvertinemias;   stable deficiency
 narrow_synonym: CONGENITAL FACTOR VII DEFICIENCY
 broad_synonym: F7-RELATED CONDITION
 related_synonym: FACTOR VII PADUA
 primary_id: MESH:D005168
 alt_id: OMIA:000361;   OMIM:227500
 xref: GARD:2238;   ICD10CM:D68.2;   NCI:C131631;   ORDO:327
For additional species annotation, visit the Alliance of Genome Resources.


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factor VII deficiency term browser
Symbol Object Name Qualifiers 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 chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
G F7 coagulation factor VII susceptibility IAGP
ISO		 Factor VII deficiency
ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency		 OMIA
ClinVar
OMIM		 PMID:1634227 PMID:1788825 PMID:1799659 PMID:2070047 PMID:2870866 More... NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      hematopoietic system disease 3188
        blood coagulation disease 919
          Inherited Blood Coagulation Disease 195
            factor VII deficiency 2
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal recessive disease 6469
                factor VII deficiency 2
paths to the root