Rare Disease Library

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

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

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

Cockayne syndrome type 2

Cockayne syndrome type II

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

HPS10 · Hermansky-Pudlak syndrome type 10

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

FG syndrome type 1

Opitz-Kaveggia syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hermansky-Pudlak syndrome

HPS

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis

Hermansky-Pudlak syndrome type 8

HPS8

Hermansky-Pudlak syndrome type 9

HPS9

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism