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GTR Home > Conditions/Phenotypes > Metachondromatosis

Metachondromatosis

Summary

Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). [from OMIM]

Available tests

65 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (65 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2, PTPN11
    Summary: protein tyrosine phosphatase non-receptor type 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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