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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:10969284, PMID:11795677, PMID:15994876, PMID:17330256, PMID:18409191, 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Majeed Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          anemia 409
            normocytic anemia 178
              hemolytic anemia 178
                congenital hemolytic anemia 134
                  congenital dyserythropoietic anemia 9
                    Majeed Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.