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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: MIM:227300;   MIM: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 chrNW_004624792:4,732,476...4,775,946
Ensembl chrNW_004624792:4,732,446...4,776,041 		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 chrNW_004624738:28,325,154...28,333,241
Ensembl chrNW_004624738:28,324,894...28,337,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      hematopoietic system disease 3329
        blood coagulation disease 1266
          Inherited Blood Coagulation Disease 612
            factor VIII deficiency 372
              Familial Multiple Coagulation Factor Deficiency I 2
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            X-linked monogenic disease 1265
              X-linked recessive disease 763
                factor VIII deficiency 372
                  Familial Multiple Coagulation Factor Deficiency I 2
paths to the root