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Alkaptonuria
Alkaptonuria
Overview
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Autosomal recessive disorders
(15)
Ochronosis
Type I tyrosinemia
Type III tyrosinemia
Argininosuccinic aciduria
Alpha-mannosidosis
Alpha-mannosidosis
2-Hydroxyglutaric aciduria
Tyrosinemia
3 methylcrotonyl-coa carboxylase deficiency
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency
Hartnup disease
Ablepharon macrostomia syndrome
Acid maltase deficiency
Cystinosis
Maple syrup urine disease
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Skin conditions resulting from errors in metabolism
Ochronosis
Phenylketonuria
Hartnup disease
Genetic disorders
(20)
Alexander disease
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Hereditary disorder
6-pyruvoyl- tetrahydropterin synthase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
Aarskog syndrome
Ochronosis
Type I tyrosinemia
Type III tyrosinemia
Argininosuccinic aciduria
2-Hydroxyglutaric aciduria
Tyrosinemia
3 methylcrotonyl-coa carboxylase deficiency
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency
Hartnup disease
Ablepharon macrostomia syndrome
Acid maltase deficiency
Cystinosis
Maple syrup urine disease
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Medical condition
(22)
Anus neoplasms
Acute idiopathic polyneuritis
Inborn error of metabolism
Altophobia
Anophthalmos
Anophthalmos
Adiposis dolorosa
Neurotoxicity syndromes
Adie syndrome
Ochronosis
Argininosuccinic aciduria
2-Hydroxyglutaric aciduria
Alexander disease
Tyrosinemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency
Aarskog syndrome
Hartnup disease
Ablepharon macrostomia syndrome
Acid maltase deficiency
Cystinosis
Maple syrup urine disease
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Tooth
(37)
Amelogenesis imperfecta
Ankylosis
Anodontia
Attrition (dental)
Chlorhexidine
Chlorhexidine
Chlorophyll
Coffee
Concrescence
Cusp of Carabelli
Dens evaginatus
Dens invaginatus
Dental fluorosis
Dentin dysplasia
Dentinogenesis imperfecta
Dilaceration
Erosion (dental)
External resorption
Gunther disease
Hemolytic disease of the newborn
Hutchinson's teeth
Hypercementosis
Hyperdontia
Hypodontia
Internal resorption
Macrodontia (tooth)
Microdontia
Minocycline
Regional odontodysplasia
Supernumerary roots
Talon cusp
Taurodontism
Tea
Tetracycline
Tobacco
Tooth fusion
Tooth gemination
Turner's hypoplasia
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Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Acid maltase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Aromatic amino acids
Phenylalanine
Tyrosine metabolism
D-DOPA
Tryptophan
Medicine
Diseases and disorders
Skeletal disorder
Neurotoxicity syndromes
Diseases and disorders
Primary hyperoxaluria
Bone disease
Arthropathy
Rare diseases
Ochronosis
Ablepharon macrostomia syndrome
See also
(20)
Homogentisate 1,2-dioxygenase
Homogentisic acid
Progressive arthritis
Nitrisinone
Oxidase
Oxidase
Sclera
Amino acid
Arthritis
Asymptomatic
Urinalysis
Aortic valve replacement
Acrodynia
Autosomal recessive
Akinetic mutism
Alfred Baring Garrod
Alternating hemiplegia
Cartilage
Amino acid metabolism
Pigmentation
Mitral valve
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