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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:Majeed Syndrome
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Accession:DOID:9005523 term browser browse the term
Synonyms:exact_synonym: Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis;   Chronic recurrent multifocal osteomyelitis, congenital;   Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis;   Dyserythropoietic anemia, and neutrophilic dermatosis;   MJDS
 primary_id: MESH:C537839;   RDO:0003746
 alt_id: OMIM:609628
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Majeed Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by OMIM:609628
ClinVar Annotator: match by term: Majeed syndrome
OMIM
ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Majeed Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          anemia 432
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  congenital dyserythropoietic anemia 10
                    Majeed Syndrome 1
paths to the root