Primary bone dysplasia

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Primary bone dysplasia with decreased bone density

ORPHA:93446Category

Also called Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

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

AEBP1ANO5B3GALT6COL1A1COL1A2CRTAPDKK1FKBP10GORABIFIH1LRP5P4HBPLOD2PLS3PYCR1RIGISEC24DTAPT1TMEM165WNT1WNT3AXYLT2

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 C5680273

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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