Rare Disease Library

Familial cold urticaria

FCAS · FCU

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with skin involvement

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

F12-associated cold autoinflammatory syndrome

FACAS

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial monosomy 7 syndrome

Genetic autoinflammatory syndrome with skin involvement

Granulomatous autoinflammatory syndrome

Granulomatous autoinflammatory syndrome of childhood

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Mixed autoinflammatory and autoimmune syndrome

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pyogenic autoinflammatory syndrome

Pyogenic autoinflammatory syndrome of childhood

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome