Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:diaphyseal medullary stenosis with malignant fibrous histiocytoma
go back to main search page
Accession:DOID:0080664 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. (DO)
Synonyms:exact_synonym: BDMF;   DMSMFH;   Hardcastle syndrome;   bone dysplasia with malignant fibrous histiocytoma;   bone dysplasia with medullary fibrosarcoma;   bone dysplasia-medullary fibrosarcoma syndrome;   diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome;   limb-girdle myopathy with bone fragility
 primary_id: MESH:C536169
 alt_id: MESH:C536104;   OMIM:112250
 xref: GARD:10072;   NCI:C122660;   ORDO:85182
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 5:103,873,020...103,939,406
Ensembl chr 5:103,873,020...103,939,406
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      Hereditary Neoplastic Syndromes 912
        diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      connective tissue benign neoplasm 29
                        histiocytoma 6
                          fibrous histiocytoma 3
                            diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
paths to the root