17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
18 Hydroxylase deficiency
2-Hydroxyglutaric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-Hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
5-oxoprolinase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Abdominal obesity metabolic syndrome
Abetalipoproteinemia
Acatalasemia
Aceruloplasminemia
Acetyl CoA acetyltransferase 2 deficiency
Acetyl-carnitine deficiency
Acrodermatitis enteropathica
Acromegaly
Acute intermittent porphyria
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenylosuccinase deficiency
Adrenomyeloneuropathy
Adult polyglucosan body disease
Albinism deafness syndrome
Albinism ocular late onset sensorineural deafness
ALG1-CDG (CDG-Ik)
ALG11-CDG (CDG-Ip)
ALG12-CDG (CDG-Ig)
ALG13-CDG
ALG2-CDG (CDG-Ii)
ALG3-CDG (CDG-Id)
ALG6-CDG (CDG-Ic)
ALG8-CDG (CDG-Ih)
ALG9-CDG (CDG-IL)
Alkaptonuria
Alpers syndrome
Alpha-1 antitrypsin deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis
Aminoacylase 1 deficiency
Anemia due to Adenosine triphosphatase deficiency
Anemia sideroblastic and spinocerebellar ataxia
Apparent mineralocorticoid excess
Arginase deficiency
Argininosuccinic aciduria
Aromatic L-amino acid decarboxylase deficiency
Arthrogryposis renal dysfunction cholestasis syndrome
Arts syndrome
Aspartylglycosaminuria
Ataxia with oculomotor apraxia type 1
Ataxia with vitamin E deficiency
Atransferrinemia
Atypical Gaucher disease due to saposin C deficiency - See
Gaucher disease
Autoimmune polyglandular syndrome type 2
Autosomal dominant neuronal ceroid lipofuscinosis 4B
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal erythropoietic protoporphyria
Autosomal recessive neuronal ceroid lipofuscinosis 4A - See
Adult neuronal ceroid lipofuscinosis
Autosomal recessive spastic ataxia 4
Autosomal recessive spinocerebellar ataxia 9
B4GALT1-CDG (CDG-IId)
Bantu siderosis
Barth syndrome
Bartter syndrome
Bartter syndrome antenatal type 1
Bartter syndrome antenatal type 2
Bartter syndrome type 3
Bartter syndrome type 4
Beta ketothiolase deficiency
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Bjornstad syndrome
Blue diaper syndrome
Carbamoyl phosphate synthetase 1 deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Central diabetes insipidus
Cerebral folate deficiency
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Chanarin-Dorfman syndrome
Chediak-Higashi syndrome
CHILD syndrome
Childhood hypophosphatasia
Cholesteryl ester storage disease
Chondrocalcinosis 1
Chondrocalcinosis 2
Chondrocalcinosis due to apatite crystal deposition
Chondrodysplasia punctata 1, X-linked recessive
Chronic progressive external ophthalmoplegia
Chylomicron retention disease
Citrulline transport defect
Citrullinemia type II
COG1-CDG (CDG-IIg)
COG4-CDG (CDG-IIj)
COG5-CDG (CDG-IIi)
COG7-CDG (CDG-IIe)
COG8-CDG (CDG-IIh)
Combined oxidative phosphorylation deficiency 16
Congenital bile acid synthesis defect, type 1
Congenital bile acid synthesis defect, type 2
Congenital disorder of glycosylation type I/IIX
Congenital dyserythropoietic anemia type 2
Congenital erythropoietic porphyria
Congenital lactase deficiency
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
Copper deficiency, familial benign
CoQ-responsive OXPHOS deficiency
Crigler Najjar syndrome, type 1
Crigler-Najjar syndrome type 2
Cystinosis
Cytochrome c oxidase deficiency
D-2-hydroxyglutaric aciduria
D-bifunctional protein deficiency
D-glycericacidemia
Danon disease
DCMA syndrome
DDOST-CDG (CDG-Ir)
Deafness, dystonia, and cerebral hypomyelination
Dentatorubral-pallidoluysian atrophy
Desmosterolosis
Diamond-Blackfan anemia
Dicarboxylic aminoaciduria
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
- Not a rare disease
Dipsogenic diabetes insipidus
DOLK-CDG (CDG-Im)
Dopa-responsive dystonia
Dopamine beta hydroxylase deficiency
Dowling-Degos disease
DPAGT1-CDG (CDG-Ij)
DPM1-CDG (CDG-Ie)
DPM2-CDG
DPM3-CDG (CDG-Io)
Dubin-Johnson syndrome
Encephalopathy due to prosaposin deficiency - See
Sphingolipidosis
Erythropoietic uroporphyria associated with myeloid malignancy
Ethylmalonic encephalopathy
Fabry disease
Familial chylomicronemia syndrome
Familial HDL deficiency
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial LCAT deficiency
Familial partial lipodystrophy type 2
Fanconi Bickel syndrome
Farber disease
Fatal infantile encephalomyopathy
Fatty acid hydroxylase-associated neurodegeneration
Fish-eye disease
Fructose-1,6-bisphosphatase deficiency
Fucosidosis
Fukuyama type muscular dystrophy
Fumarase deficiency
Galactokinase deficiency
Galactosialidosis
Gamma aminobutyric acid transaminase deficiency
Gamma-cystathionase deficiency
Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification - See
Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gestational diabetes insipidus
Gilbert syndrome
- Not a rare disease
Gitelman syndrome
Glucose transporter type 1 deficiency syndrome
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutamine deficiency, congenital
Glutaric acidemia type I
Glutaric acidemia type II
Glutaric acidemia type III
Glutathione synthetase deficiency
Glutathionuria
Glycine N-methyltransferase deficiency
Glycogen storage disease 8
Glycogen storage disease type 0, liver
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 3
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 7
Glycoproteinosis
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GRACILE syndrome
Greenberg dysplasia
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Gyrate atrophy of choroid and retina
Haim-Munk syndrome
Hartnup disease
Hawkinsinuria
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hepatic lipase deficiency
Hepatoerythropoietic porphyria
Hereditary amyloidosis
Hereditary coproporphyria
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary hyperekplexia
Hereditary multiple osteochondromas
Hereditary sensory and autonomic neuropathy type 1E
Hereditary sensory neuropathy type 1
Hermansky Pudlak syndrome 2
Histidinemia
HMG CoA lyase deficiency
Homocarnosinosis
Homocysteinemia
Homocystinuria due to CBS deficiency
Homocystinuria due to MTHFR deficiency
HSD10 disease
Hurler syndrome
Hurler–Scheie syndrome
Hydroxykynureninuria
Hyper-IgD syndrome
Hyperbetaalaninemia
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperglycerolemia
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperlipidemia type 3
Hyperlipoproteinemia type 5
Hyperlysinemia
Hyperphenylalaninemia due to dehydratase deficiency
Hyperprolinemia
Hyperprolinemia type 2
Hypertryptophanemia
Hypolipoproteinemia
Hypophosphatasia
I cell disease
Imerslund-Grasbeck syndrome
Iminoglycinuria
Inclusion body myopathy 2
Inclusion body myopathy 3
Infantile free sialic acid storage disease - See
Free sialic acid storage disease
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Insulin-like growth factor I deficiency
Intrinsic factor deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Kanzaki disease
Kearns-Sayre syndrome
Krabbe disease atypical due to Saposin A deficiency
L-2-hydroxyglutaric aciduria
L-arginine:glycine amidinotransferase deficiency
Lactate dehydrogenase A deficiency
Lactate dehydrogenase deficiency
Lathosterolosis
LCHAD deficiency
Leber hereditary optic neuropathy
Leigh syndrome, French Canadian type
Lesch Nyhan syndrome
Leucine-sensitive hypoglycemia of infancy
Leukoencephalopathy - dystonia - motor neuropathy
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Limb-girdle muscular dystrophy type 2I
Limb-girdle muscular dystrophy type 2K - See
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2M - See
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2N - See
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2O - See
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2T - See
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy, type 2C
Lipase deficiency combined
Lipoic acid synthetase deficiency
Lipoid proteinosis of Urbach and Wiethe
Lowe oculocerebrorenal syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
MAN1B1-CDG
Mannose-binding lectin protein deficiency
- Not a rare disease
Mannosidosis, beta A, lysosomal
Maternal hyperphenylalaninemia
Maternally inherited diabetes and deafness
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megaloblastic anemia due to dihydrofolate reductase deficiency
Menkes disease
Metachromatic leukodystrophy
Metachromatic leukodystrophy due to saposin B deficiency
Methionine adenosyltransferase deficiency
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia with homocystinuria type cblC - See
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblD - See
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblF - See
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblJ - See
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria, cblA type - See
Adenosylcobalamin deficiency
Methylmalonic aciduria, cblB type - See
Adenosylcobalamin deficiency
Mevalonic aciduria
MGAT2-CDG (CDG-IIa)
Mild phenylketonuria
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial trifunctional protein deficiency
MOGS-CDG (CDG-IIb)
Mohr-Tranebjaerg syndrome
Molybdenum cofactor deficiency
Monogenic diabetes
- Not a rare disease
Morquio syndrome B
MPDU1-CDG (CDG-If)
MPI-CDG (CDG-Ib)
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Mucolipidosis III alpha/beta
Mucolipidosis type 4
Mucopolysaccharidosis type II
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia type 2B
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Muscle eye brain disease
Muscular dystrophy, congenital, megaconial type
Muscular phosphorylase kinase deficiency
Musculocontractural Ehlers-Danlos syndrome
Myoclonic epilepsy with ragged red fibers
Myoglobinuria recurrent
N acetyltransferase deficiency
N-acetyl-alpha-D-galactosaminidase deficiency type III
N-acetylglutamate synthase deficiency
NBIA/DYT/PARK-PLA2G6
Neonatal adrenoleukodystrophy
Neonatal hemochromatosis
Neonatal intrahepatic cholestasis caused by citrin deficiency
Nephrogenic diabetes insipidus
Neu Laxova syndrome
Neuroferritinopathy
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 9
Neuropathy ataxia retinitis pigmentosa syndrome
Neutral lipid storage disease with myopathy
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Northern epilepsy
Not otherwise specified 3-MGA-uria type
Occipital horn syndrome
Ocular albinism type 1
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
OPA3 defect
Optic atrophy 1
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Orotic aciduria type 1
Papillon Lefevre syndrome
Parkinson disease type 9
Paroxysmal nocturnal hemoglobinuria
Pearson syndrome
Pentosuria
Permanent neonatal diabetes mellitus
Peroxisomal biogenesis disorders
Peroxisome disorders
- Not a rare disease
Perrault syndrome
Peters plus syndrome
PGM1-CDG
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphoribosylpyrophosphate synthetase superactivity
PMM2-CDG (CDG-Ia)
Pontocerebellar hypoplasia type 6
Porphyria cutanea tarda
Primary carnitine deficiency
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hypomagnesemia with secondary hypocalcemia
Progressive external ophthalmoplegia, autosomal recessive 1
Progressive familial intrahepatic cholestasis 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Prolidase deficiency
Propionic acidemia
Pseudocholinesterase deficiency
Pseudoneonatal adrenoleukodystrophy
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
Refsum disease
Refsum disease with increased pipecolic acidemia
Refsum disease, infantile form
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
RFT1-CDG (CDG-In)
Rhizomelic chondrodysplasia punctata type 3 - See
Rhizomelic chondrodysplasia punctata
Rotor syndrome
Saccharopinuria
Salla disease - See
Free sialic acid storage disease
Sarcosinemia
Scheie syndrome
Schimke immunoosseous dysplasia
Schindler disease type 1
Schneckenbecken dysplasia
SCOT deficiency
Sea-Blue histiocytosis
Sengers syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sitosterolemia
Sjogren-Larsson syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Smith-Lemli-Opitz syndrome
Spastic paraplegia 7
Spinocerebellar ataxia 28
Spinocerebellar ataxia autosomal recessive 3
Spondylocostal dysostosis 1 - See
Spondylocostal dysostosis
Spondylocostal dysostosis 2 - See
Spondylocostal dysostosis
Spondylocostal dysostosis 3 - See
Spondylocostal dysostosis
Spondylocostal dysostosis 4 - See
Spondylocostal dysostosis
Spondylocostal dysostosis 6 - See
Spondylocostal dysostosis
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloepimetaphyseal dysplasia joint laxity
Spondylothoracic dysostosis
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tay-Sachs disease
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Tiglic acidemia
TMEM165-CDG (CDG-IIk)
Transaldolase deficiency
Transcobalamin 1 deficiency
Transient neonatal diabetes mellitus
Trehalase deficiency
Trimethylaminuria
Triosephosphate isomerase deficiency
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Urea cycle disorders
Valinemia
Variegate porphyria
VLCAD deficiency
Walker-Warburg syndrome
Wilson disease
Wolfram syndrome
Wolman disease
Wrinkly skin syndrome
X-linked adrenoleukodystrophy
X-linked cerebral adrenoleukodystrophy
X-linked Charcot-Marie-Tooth disease type 5 - See
Charcot-Marie-Tooth disease
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked sideroblastic anemia
Xanthinuria type 1
Xanthinuria type 2
Zellweger syndrome
