Non-syndromic visceral malformation of the liver

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Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

ORPHA:108971Category

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

ANKS3CFAP52CFAP53CIROPCITED2DNAH9MMP21NKX2-5NME7NODALPDX1PKD1L1PKHD1PTF1ARPSA

Orphanet records these genes on 4 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 15213UMLS C5681761

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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