Rare Disease Library

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

BRESEK syndrome

BRESHECK syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brugada syndrome

Ventricular fibrillation, Brugada type

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Hyperzincemia and hypercalprotectinemia

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

Interstitial cystitis

Bladder pain syndrome · Painful bladder syndrome

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

Monoamine oxidase A deficiency

Brunner syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome