Rare Disease Library

Bartter syndrome type 3

Bartter syndrome type III

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Ataxia-telangiectasia

Louis-Bar syndrome

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Balint syndrome

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

Banki syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

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 4

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

Bartter syndrome with hypocalcemia

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Biliary atresia with splenic malformation syndrome

BASM syndrome

Birk-Barel syndrome

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

Bowen-Conradi syndrome

Bowen syndrome, Hutterite type

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

Cockayne syndrome type 1

Cockayne syndrome type I

Cockayne syndrome type 2

Cockayne syndrome type II

Cockayne syndrome type 3

Cockayne syndrome type III

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

COG1-CDG

Congenital disorder of glycosylation type 2g · CDG syndrome type IIg

COG4-CDG

Congenital disorder of glycosylation type 2j · CDG syndrome type IIj

COG5-CDG

CDG syndrome type IIi · CDG-IIi

COG6-CGD

CDG2L · CDG syndrome type IIL

COG7-CDG

CDG syndrome type IIe · CDG-IIe

COG8-CDG

CDG syndrome type IIh · CDG-IIh

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Crigler-Najjar syndrome type 1

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1