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GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC ACUG EOS ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL SARCOIDOSIS, EARLY-ONSET GRANULOMATOSIS, FAMILIAL, BLAU TYPE JABS SYNDROME
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| Scope Statement |
Favorable response to intermittent, low-dose steroid therapy [MISCELLANEOUS] Allelic disorder to early-onset sarcoidosis (609464) [MISCELLANEOUS] Onset in first 2 decades of life [MISCELLANEOUS] Caused by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0004). [MOLECULAR BASIS] Variable manifestation of features [MISCELLANEOUS]
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