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diaphyseal medullary stenosis with malignant fibrous histiocytoma - Ontology Report - Rat Genome Database

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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;   MIM:112250
 xref: GARD:10072;   NCI:C122660;   ORDO:85182

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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 term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY OMIM
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr15:84,196,548...84,198,357
Ensembl chr12:57,997,427...58,050,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    syndrome 10489
      Hereditary Neoplastic Syndromes 1473
        diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13233
        peripheral nervous system disease 4283
          neuropathy 4097
            neuromuscular disease 3171
              muscular disease 2188
                muscle tissue disease 1323
                  Muscle Tissue Neoplasms 185
                    musculoskeletal system benign neoplasm 127
                      connective tissue benign neoplasm 79
                        histiocytoma 7
                          fibrous histiocytoma 3
                            diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
paths to the root