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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:Familial Multiple Coagulation Factor Deficiency I
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Accession:DOID:9000717 term browser browse the term
Synonyms:exact_synonym: F5F8D;   F5F8D1;   FMFD I;   FMFD1;   Factor V And Factor VIII, Combined Deficiency Of;   Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor;   MCFD1;   multiple coagulation factor deficiency I
 primary_id: MESH:C565577
 alt_id: OMIM:227300;   OMIM:227310


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Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMAN1 lectin, mannose binding 1 ISO ClinVar Annotator: match by term: FMFD I OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr 1:161,607,122...161,631,650
Ensembl chr 1:161,607,143...161,631,651 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      hematopoietic system disease 3134
        blood coagulation disease 894
          Inherited Blood Coagulation Disease 194
            factor VIII deficiency 25
              Familial Multiple Coagulation Factor Deficiency I 2
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            X-linked monogenic disease 1315
              X-linked recessive disease 569
                factor VIII deficiency 25
                  Familial Multiple Coagulation Factor Deficiency I 2
paths to the root