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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.


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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 PMID:16199547 PMID:16950137 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19369868 PMID:20032092 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25741868 PMID:26386126 PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Majeed Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1799
          anemia 427
            normocytic anemia 200
              hemolytic anemia 200
                congenital hemolytic anemia 153
                  congenital dyserythropoietic anemia 10
                    Majeed Syndrome 1
paths to the root