Rare Disease Library

Faciocardiorenal syndrome

Eastman-Bixler syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Angelman syndrome

Antley-Bixler syndrome

Asherman syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Bartter syndrome

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

Behr syndrome

Behr complicated familial optic atrophy

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Biliary atresia with splenic malformation syndrome

BASM syndrome

Blau syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

BNAR syndrome

Bifid nose with or without anorectal and renal anomalies

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Böök syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Chandler syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Emanuel syndrome

Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gerstmann syndrome

Gitelman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hinman syndrome

HAS · HS

Hurler syndrome

Hurler disease · MPS1H