Rare Disease Library

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

PDE4D haploinsufficiency syndrome

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Pyruvate carboxylase deficiency

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

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Radial deficiency-tibial hypoplasia syndrome

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Rh deficiency syndrome

Rh-null syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

Syndrome with combined immunodeficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Transverse limb deficiency-hemangioma syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

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

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

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

Xanthinuria type I

XDH deficiency · XO deficiency

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome