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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:Multisystem Autoimmune Disease with Facial Dysmorphism
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Accession:DOID:9003687 term browser browse the term
Synonyms:exact_synonym: ADMFD;   syndromic multisystem autoimmune disease
 primary_id: OMIM:613385



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Multisystem Autoimmune Disease with Facial Dysmorphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM ClinVar PMID:28492532 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20170897 PMID:25741868 More... NCBI chr 3:143,642,348...143,733,745
Ensembl chr 3:143,645,637...143,733,543
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    syndrome 10752
      primary immunodeficiency disease 4145
        autoimmune disease 2318
          Multisystem Autoimmune Disease with Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 21147
    Developmental Disease 18462
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18323
        Congenital Abnormalities 7479
          Musculoskeletal Abnormalities 3251
            Craniofacial Abnormalities 2597
              Multisystem Autoimmune Disease with Facial Dysmorphism 2
paths to the root