Rare Disease Library

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with skin involvement

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

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

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

F12-associated cold autoinflammatory syndrome

FACAS

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Familial cold urticaria

FCAS · FCU

Genetic autoinflammatory syndrome with skin involvement

Granulomatous autoinflammatory syndrome

Granulomatous autoinflammatory syndrome of childhood

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Mixed autoinflammatory and autoimmune syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Noonan syndrome and Noonan-related syndrome

OBSOLETE: ATR-X-related syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

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

Rauch-Steindl syndrome

NSD2-related syndrome

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood