Wiskott-Aldrich syndrome (WAS)

Chronic granulomatous disease (CGD)


Rare Kidney Stone Consortium

Primary hyperoxaluria

Cystinuria

APRT deficiency (Dihydroxyadeninuria)

Dent’s disease


Salivary Gland Carcinomas Consortium

Mucoepidermoid carcinoma (MEC)

Adenoid cystic carcinoma (ACC)

Adenocarcinoma (salivary duct carcinoma) (ACC)


STAIR: Sterol and Isoprenoid Diseases Consortium

Cerebrotendinous xanthomatosis

Mevalonic aciduria

Hyperimmunoglobulinemia D with periodic fever syndrome

Niemann-Pick disease type C

Sitosterolemia

Sjögren-Larsson syndrome

Smith-Lemli-Opitz syndrome


Urea Cycle Disorders Consortium

N-Acetylglutamate synthase (NAGS) deficiency

Carbamylphosphate synthetase (CPS) deficiency

Ornithine transcarbamylase (OTC) deficiency

Argininosuccinate synthetase deficiency (citrullinemia I)

Citrin deficiency (citrullinemia II)

Argininosuccinate lyase deficiency (argininosuccinic aciduria)

Arginase deficiency (hyperargininemia)

Ornithine translocase deficiency (HHH) syndrome


Vasculitis Clinical Research Consortium

Wegener’s granulomatosis (WG)

Microscopic polyangiitis (MPA)

Churg-Strauss syndrome (CSS)

Polyarteritis nodosa (PAN)

Takayasu’s arteritis (TAK)

Giant cell (temporal) arteritis (GCA)



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