Rare Disease Library

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Müllerian aplasia and hyperandrogenism

Müllerian duct failure and hyperandrogenism · WNT4 deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Multiple mitochondrial dysfunctions syndrome type 6

PMPCB deficiency

Myeloperoxidase deficiency

MPO deficiency

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

NAD(P)HX dehydratase deficiency

CARKD deficiency

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Neurometabolic disorder due to serine deficiency

Serine deficiency

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

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

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Pituitary deficiency

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

Prolidase deficiency

Hyperimidodipeptiduria

Properdin deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

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

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

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

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency

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