Rare Disease Library

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Bartter syndrome

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

Blau syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bloom syndrome

BSyn

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria 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

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Monoamine oxidase A deficiency

Brunner syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Rudiger syndrome

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis