FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term diaphyseal medullary stenosis with malignant fibrous histiocytoma ID (Ontology) DOID:0080664 (Human Disease)
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.
Also Known As "bone dysplasia-medullary fibrosarcoma syndrome" ; "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" ; "Hardcastle syndrome"
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 Genes
 diaphyseal medullary stenosis with malignant fibrous histiocytoma       2
 for disease ribbon | diaphyseal medullary stenosis with malignant fibrous histiocytoma       2
 model of | diaphyseal medullary stenosis with malignant fibrous histiocytoma       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                diaphyseal medullary stenosis with malignant fibrous histiocytoma  2 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
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Synonyms
  • "bone dysplasia-medullary fibrosarcoma syndrome" EXACT
    "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT
    "Hardcastle syndrome" EXACT
Secondary IDs
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GARD:10072
MESH:C536169
MIM:112250
NCI:C122660
ORDO:85182