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DO Term : diaphyseal medullary stenosis with malignant fibrous histiocytoma [DOID:0080664] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ORDO:85182,
112250,
bone dysplasia-medullary fibrosarcoma syndrome,
OMIM:112250,
GARD:10072,
NCI:C122660,
diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome,
Hardcastle syndrome,
MESH:C536169

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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