Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
Aicardi-Goutieres syndrome 1

Also known as: AGS1, Ags, Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1, autosomal dominant, Aicardi-Goutieres syndrome 1, dominant and recessive, Aicardi-Goutieres syndrome caused by mutation in TREX1, Aicardi-Goutieres syndrome type 1, Cree encephalitis, Pseudotoxoplasmosis syndrome, TREX1 Aicardi-Goutieres syndrome, encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis

Aicardi-Goutieres syndrome 2

Also known as: AGS2, Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome caused by mutation in RNASEH2B, Aicardi-Goutieres syndrome type 2, RNASEH2B Aicardi-Goutieres syndrome, RNASEH2B-related Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome 3

Also known as: AGS3, Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome caused by mutation in RNASEH2C, Aicardi-Goutieres syndrome type 3, RNASEH2C -related Aicardi-Goutieres syndrome, RNASEH2C Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome 4

Also known as: AGS4, Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome caused by mutation in RNASEH2A, Aicardi-Goutieres syndrome type 4, RNASEH2A Aicardi-Goutieres syndrome, RNASEH2A-related Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome 5

Also known as: AGS5, Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome caused by mutation in SAMHD1, Aicardi-Goutieres syndrome type 5, SAMHD1 Aicardi-Goutieres syndrome, SAMHD1-related Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome 6

Also known as: ADAR Aicardi-Goutieres syndrome, AGS6, Adar Aicardi-Goutieres syndrome, Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome caused by mutation in ADAR, Aicardi-Goutieres syndrome caused by mutation in Adar, Aicardi-Goutieres syndrome type 6

Aicardi-Goutieres syndrome 7

Also known as: AGS7, Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome caused by mutation in IFIH1, Aicardi-Goutieres syndrome type 7, IFIH1 Aicardi-Goutieres syndrome

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