Rare Disease Library

Silent sinus syndrome

Imploding antrum syndrome · CMA grade 3

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Anti-glomerular basement membrane disease

Anti-GBM syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

IMAGe syndrome

Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome