Rare Disease Library

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Glutathione synthetase deficiency

Pyroglutamicaciduria

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Hemolytic uremic syndrome with DGKE deficiency

HUS with DGKE deficiency

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Radial deficiency-tibial hypoplasia syndrome

Rh deficiency syndrome

Rh-null syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2