Autosomal ichthyosis syndrome

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Autosomal ichthyosis syndrome with prominent hair abnormalities

ORPHA:281222Category

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

AARS1CARS1CLDN1DBR1ERCC2ERCC3GTF2E2GTF2H5MPLKIPRNF113ASPINK5ST14TARS1

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 17271UMLS C5681027

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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