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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: CRMO1;   Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis;   Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;   Chronic recurrent multifocal osteomyelitis, congenital;   Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis;   Dyserythropoietic anemia, and neutrophilic dermatosis;   MJDS
 xref: GARD:10088;   MESH:C537839;   MIM:609628;   MONDO:0012316;   ORDO:77297


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 Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Majeed syndrome		 OMIM
CTD
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 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Majeed Syndrome 7
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4344
        hematopoietic system disease 3835
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital dyserythropoietic anemia 33
                    Majeed Syndrome 7
paths to the root