Rare Disease Library

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Ataxia-telangiectasia

Louis-Bar syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Bangstad syndrome

Ataxia-diabetes-goiter-gonadal insufficiency syndrome

Banki syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Bardet-Biedl syndrome

BBS

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Bartter syndrome

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

Bartter syndrome type 1

Bartter syndrome type I

Bartter syndrome type 2

Bartter syndrome type II

Bartter syndrome type 3

Bartter syndrome type III

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Biliary atresia with splenic malformation syndrome

BASM syndrome

Birk-Barel syndrome

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

Blau syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bloom syndrome

BSyn

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

Bowen syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

BRESEK syndrome

BRESHECK syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome