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Diaphyseal medullary stenosis - bone malignancy
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Hepatoerythropoietic porphyria
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Lesch-Nyhan syndrome
Porphyria cutanea tarda
Purine nucleoside phosphorylase deficiency
Synonym(s):
- Bone dysplasia - medullary fibrosarcoma
- Diaphyseal medullary stenosis - malignant fibrous histiocytoma
- Hardcastle syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536169

Gene symbol UniProt reference OMIM reference
MTAP Q13126156540
No signs/symptoms info available.