Rare Disease Library

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

BRESEK syndrome

BRESHECK syndrome

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brugada syndrome

Ventricular fibrillation, Brugada type

C syndrome

OTCS · Opitz C trigonocephaly

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Clark-Baraitser syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Czeizel-Losonci syndrome

Split hand with obstructive uropathy, spina bifida and diaphragmatic defects · Split hand-urinary anomalies-spina bifida syndrome

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Monoamine oxidase A deficiency

Brunner syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome