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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by OMIM:613385
ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20170897 PMID:25741868 PMID:28492532 PMID:31091003 NCBI chr 3:150,660,665...150,752,016
Ensembl chr 3:150,686,638...150,749,827
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      primary immunodeficiency disease 2515
        autoimmune disease 1769
          Multisystem Autoimmune Disease with Facial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Congenital Abnormalities 5194
          Musculoskeletal Abnormalities 2135
            Craniofacial Abnormalities 1858
              Multisystem Autoimmune Disease with Facial Dysmorphism 1
paths to the root