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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:melorheostosis
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Accession:DOID:4253 term browser browse the term
Definition:An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. (DO)
Synonyms:exact_synonym: MEL;   MELORHEOSTOSIS, ISOLATED;   MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC;   Melorheostoses;   Melorheostosis of Leri
 broad_synonym: MAP2K1-RELATED DISORDER
 primary_id: MESH:D008557
 alt_id: OMIM:155950
 xref: GARD:9474;   NCI:C84887
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
melorheostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Melorheostosis OMIM
ClinVar
PMID:7651428 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:17087626 PMID:19438932 More... NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      bone development disease 1885
        osteochondrodysplasia 618
          osteosclerosis 47
            melorheostosis 2
              Melorheostosis with Osteopoikilosis 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            bone development disease 1885
              osteochondrodysplasia 618
                osteosclerosis 47
                  melorheostosis 2
                    Melorheostosis with Osteopoikilosis 1
paths to the root