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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:diaphyseal medullary stenosis with malignant fibrous histiocytoma
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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.


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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, PMID:16419137, PMID:22464254, PMID:25741868, PMID:28492532 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Hereditary Neoplastic Syndromes 815
        diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  Muscle Tissue Neoplasms 134
                    musculoskeletal system benign neoplasm 75
                      connective tissue benign neoplasm 30
                        histiocytoma 6
                          fibrous histiocytoma 3
                            diaphyseal medullary stenosis with malignant fibrous histiocytoma 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.