Primary bone dysplasia

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Primary bone dysplasia with increased bone density

ORPHA:93444Category

Also called Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density · Sclerosing bone dysplasia

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ANKHBMP1COL1A1COL1A2DLX3GJA1LRP4LRP5MTAPPTDSS1SFRP4SOSTSP7TBXAS1TGFB1TMEM53TNFRSF11ATNFRSF11B

Orphanet records these genes on 15 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

UMLS C5680274

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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