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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:high molecular weight kininogen deficiency
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Accession:DOID:0111676 term browser browse the term
Definition:A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1. (DO)
Synonyms:exact_synonym: Fitzgerald Trait;   Flaujeac Factor Deficiency;   HMWK Deficiency;   congenital high-molecular-weight kininogen deficiency;   total kininogen deficiency
 narrow_synonym: FLAUJEAC TRAIT;   KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT;   Williams trait
 primary_id: MESH:C537060
 alt_id: OMIM:228960
 xref: GARD:2684;   NCI:C98946;   ORDO:483
For additional species annotation, visit the Alliance of Genome Resources.

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high molecular weight kininogen deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng2 kininogen 2 ISO DNA:misense mutation:cds:
ClinVar Annotator: match by OMIM:228960
ClinVar Annotator: match by synonym: Kininogen deficiency, total
ClinVar Annotator: match by term: High molecular weight kininogen deficiency		 OMIM
ClinVar		 PMID:1202089 PMID:1968772 PMID:7901207 PMID:12576314 PMID:17522339 PMID:25741868, PMID:7901207 RGD:1600407 NCBI chr11:81,509,185...81,516,759 JBrowse link
Term paths to the root
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Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      hematopoietic system disease 1639
        blood coagulation disease 623
          Inherited Blood Coagulation Disease 103
            high molecular weight kininogen deficiency 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                high molecular weight kininogen deficiency 1
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