Primary bone dysplasia with micromelia

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Primary bone dysplasia with micromelia

ORPHA:364536Category

Also called Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

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

FGFR3HHATSLC26A2

Orphanet records these genes on 5 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

MONDO 18232UMLS C5679917

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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