List Of Diseases

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There are currently 299 names in this directory
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2-methylbutyryl CoA deficiency
2-Hydroxy-glutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylglutaconic aciduria 1
4-Hydroxy-butyric aciduria (SSADHD)
5-alpha-reductase deficiency
6-Pyruvoyltetrahydropterin synthase deficiency
A
Activator Deficiency
Amyloid purpura
Argininemia
Argininosuccinic aciduria
Aspartylglucosaminuria
Acatalasia/ Takahara’s disease
Acute intermittent porphyria
Acyl-CoA oxidase deficiency
Addison disease
Adrenoleukodystrophy
Adult Refsum disease
Alexander disease
Alkaptonurira
Allan-Herndon-Dudley syndrome
Alpha-mannosidosis
Alpha-methylcayl-CoA racemase deficiency
Aminoacylase 1 deficiency
Amyloidosis
Amyotrophic lateral sclerosis
Andersen’s disease
Anoxic brain damage
Apparent mineral ocorticoid excess syndrome
Arnold-Chiari malformation outcomes
Aromatase deficiency
Aromatase excess syndrome
Arteriosclerosis
Asperger syndrome
Asthma
Ataxia
Atherosclerosis
Atopic dermatitis, eczema
Atrophic gastritis
Atrophic vaginitis
Autism
B
Behçet's disease
Beta-mannosidosis
Bernard-Soulier syndrome
Biotinidase deficiency
Balint’s syndrome
Batten-Spielmeyer-Sjögren-Vogt
Best's Disease
Betaketothiolase deficiency
Brunner’s syndrome
Bullous emphysema
Bullous pemphigoid
Burns (Classic thermal and frostbite)
C
Chronic Hexosaminidase A Deficiency
Cholesteryl ester storage disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine-acylcarnitine translocase deficiency
Congenital erythropoietic porphyria
Cystathioninuria
Canavan disease
Cardiac insufficiency
Cardiomyopathy
Carnosenemia
Cerebral amyloid angiopathy
Cerebral palsy
Cerebrotendineous xanthomatosis
Cerebrovascular diseases
Charles Bonnet Syndrome
Chemotherapy side effects (post chemotherapy)
Childhood disintegrative disorder
Chondroplasias- maintenance therapy
Chronic Critical Limb Ischemia
Citrullinemia
Coenzyme A dehydrogenase deficiency
Color blindness
Cone-rod dystrophy
Congenital adrenal hyperplasia
Congenital dyserythropoietic anemia
Congenital hemolytic anemia (nonspherocytic)
Congestive heart failure
Cori’s disease
Coronary artery diseases
Cortical visual impairment
Crigler-Najjar symdrome
Crohn’s diseases
Cystic fibrosis
Cystinosis
D
D-bifunctional protein deficiency
Danon disease
Dienoyl-CoA reductase deficiency
Dermatomyositis
Dehydroxyacetonephosphate acyltransferase def
Dementia
Diabetes Mellitus type 1
Diabetes Mellitus type 2
Diabetic Neuropathy
Dopamine Beta hydroxylase deficiency
Dubin-Johnson syndrome
E
Ethylmalonic encephalopathy
Enthesitis, chronic
Epilepsy
Erythropoetic porphyria
F
Fabry disease
Farber disease
Factor X
Fucosidosis
Fumarase deficiency
Fructose intolerance
Factor V deficiency, Owren disease
Familial alpha-lipoprotein deficiency
Familial male-limited precocious puberty
Fanconi-Bickel’ syndrome
Follicle-stimulating hormone insensitivity
Forbes’ disease
G
Gaucher Disease
Galactosialidosis
Glanzmann's thrombasthenia
Glutaric acidemia
G6PD/ Favism
Galactosemia
Gangliosidosis (GM1)
Glucocorticoid remedial aldosteronism
Glycogen storage disease
Gonadotropin-releasing hormone insensitivity
Goodpasture’s syndrome
Gout, severe and recurrent cases
H
Hereditary CNS demyelinating disease
Hunter syndrome
Hurler Syndrome
Hartnup disease
Hawkinsinuria
Hemophilia
Hermansky–Pudlak syndrome
Homocystinuria
Hyperargininemia
Hyperlysinemias
Hypermethioninemia
Hyperprolinemia
Hypo-alpha-lipoproteinemia
Hashimoto’s thyroiditis, refractory cases
Heart failure
Hereditary coproporphyria
Hereditary Fructose intolerance
Hers’ disease
Hexosaminidase A Deficiency
Histidenemia
Huntington’s disease
Hyaluronidase Deficiency
Hyperargininuria
Hyperhomocysteinuria
Hyperoxaluria/ Bird’s disease
Hypertrophic emphysema
Hypertryptophanemia
Hyperurecemia
Hypervalenemia
I
Iminoglycinuria
Inborn errors of steroid metabolism
Infantile Free Sialic Acid Storage Disease
Infantile Refsum disease
Interstitial lung disease
Intractable wound healing
Ionizing radiation injury
Isobutyryl-CoA dehydrogenase deficiency
Isolated 17,20-lyase deficiency
Isovaleric acIdemia
J
Juvenile arthritis
Jansky-Bielschowsky disease
Joint regeneration
Juvenile Hexosaminidase A Deficiency
K
Krabbe disease
Kernicterus- Bilirubin encephalopathy
Kufs disease
L
Lysosomal acid lipase deficiency
Lactose intolerance
Lysinuric protein intolerance
Leber's congenital amaurosis
Lesch-Nyhan syndrome
Leukoencephalopathy
Leukopdystrophies
Leydig cell hypoplasia
Lipoid congenital adrenal hyperplasia
Liver cirrhosis
Locked-in syndrome
Lysosomal storage disease
M
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Maroteaux-Lamy syndrome
Metachromatic Leukodystrophy
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Morquio syndrome
Mucolipidosis (all types)
Mucopolysaccharidoses disorders
Multiple sulfatase deficiency
Macular Degeneration
Mannosidosis
Menkes disease
Mevalonate kinase deficiency/aciduria
Mitochondrial trifunctional protein deficiency
Mulibrey nanism
Multiple Sclerosis
Multiple system atrophy
Muscular dystrophy
Myelopathy
Myotonia congenita
N
Nonketotic hyperglycinemia
N-Acetylglutamate synthase deficiency
Neuronal Ceroid Lipofuscinoses
Niemann-Pick Disease
Narcolepsy/cataplexy
Neonatal adrenoleukodystrophy
Nephropathy/Glomeronephritis
Neurological Visual Impairment
Neuromyelitis optica
Northern Epilepsy syndrome
O
Ocular albinism
Ornithine transcarbamylase deficiency
Obstructive lung disease
Optic Nerve Hypoplasia
Osteomyelitis
P
Pompe’s disease
Porphobilinogen synthase Deficiency
Polymyositis
Primary carnitine deficiency
Propionic acidemia
Psoriatic arthritis
Pycnodysostosis
Parkinson’s disease
Pelizaeus–Merzbacher disease
Pemphigus
Peripheral arterial diseases
Periventricular leukomalacia
Peroxisomal disorder
Peroxisome biogenesis disorders
Pervasive developmental disorder
Phenylketonuria
Pipecolic acedemia/ Hyperpipecolatemia
Porphyria cutanea tarda
Primary biliary cirrhosis
Progressive supranuclear palsy
Prolidase deficiency
Pseudo-Hurler polydystrophy
Psoriasis
Pulmonary diseases
R
Red cell aldolase deficiency
Reiter's syndrome
Rheumatoid arthritis
Radiation induced lung injury
Radiation injuries (Post radiation injuries)
Reactive arthritis, Reiter’s sd
Refsum disease
Restrictive lung disease
Retinitis Pigmentosa
Retinopathy
Rett syndrome
Rheumatism
Rhizomelic chondrodysplasia punctata
Rotor syndrome
S
Systemic lupus erythematosus
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Scheie Syndrome
Scleroderma
Sialidosis
Sjögren syndrome
Sly Syndrome
Santavuori-Haltia syndrome
Schindler disease
Sideroblastic anemia
Spastic diplegia
Spinal Muscular Atrophy
Stargardt's Disease
Stroke
Sturge-Weber Syndrome
T
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Trimethylaminuria/ fish odor syndrome
Tyrosinemia
Tangier disease
Tarui’s disease
Thermal radiation injury
U
Ulcerative Colititis
Urocanic aciduria
Usher Syndrome
V
Von Willebrand disease
Variegate porphyria
Vitelliform macular dystrophy
Vitiligo
Von Gierke’s disease
W
Wolman disease
Waardenburg syndrome
Werdnig-Hoffman disease (SMA)
Wilson’s disease
X
X-linked adrenoleukodystrophy
Z
Zellweger syndrome
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