Category:Autosomal recessive disorders
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 | Pages in this category should be moved to subcategories where applicable. This category may require frequent maintenance to avoid becoming too large. It should directly contain very few, if any, pages and should mainly contain subcategories. |
Wikimedia Commons has media related to Autosomal recessive diseases and disorders.
For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 253 total.
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- Abderhalden–Kaufmann–Lignac syndrome
- Abetalipoproteinemia
- Aceruloplasminemia
- Acheiropodia
- Acrocallosal syndrome
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Adenosine deaminase deficiency
- Adenylosuccinate lyase deficiency
- Albinism in humans
- Alkaptonuria
- Alpha-mannosidosis
- Antley–Bixler syndrome
- Argininemia
- Argininosuccinic aciduria
- Arterial tortuosity syndrome
- Aspartylglucosaminuria
- Atransferrinemia
- Autosomal recessive multiple epiphyseal dysplasia
B
C
- Calpainopathy
- Canavan disease
- CANDLE syndrome
- Carbamoyl phosphate synthetase I deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carpenter syndrome
- Cartilage–hair hypoplasia
- Cenani–Lenz syndactylism
- Cerebrotendineous xanthomatosis
- CHIME syndrome
- Chorea acanthocytosis
- Chorea-acanthocytosis
- Chronic progressive external ophthalmoplegia
- Chédiak–Higashi syndrome
- Citrullinemia
- Cockayne syndrome
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital hepatic fibrosis
- Congenital ichthyosiform erythroderma
- Congenital insensitivity to pain with anhidrosis
- Corneal dystrophy-perceptive deafness syndrome
- Cranio-lenticulo-sutural dysplasia
- Craniodiaphyseal dysplasia
- Cystic fibrosis
- Cystinosis
- Cystinuria
D
F
G
- Galactokinase deficiency
- Galactose epimerase deficiency
- Galactose-1-phosphate uridylyltransferase deficiency
- Galactosialidosis
- Galloway Mowat syndrome
- Gangliosidosis
- Gastroschisis
- Gaucher's disease
- Gerodermia osteodysplastica
- Giant axonal neuropathy
- Gillespie syndrome
- Gitelman syndrome
- Glanzmann's thrombasthenia
- Glucose-galactose malabsorption
- Glutaric acidemia type 2
- Glutaric aciduria type 1
- Glutathione synthetase deficiency
- Glycine encephalopathy
- Glycogen storage disease type I
- Glycogen storage disease type II
- Glycogen storage disease type III
- Glycogen storage disease type V
- Phosphofructokinase deficiency
- GM1 gangliosidoses
- GM2 gangliosidoses
- GM2-gangliosidosis, AB variant
- Griscelli syndrome
- Guanidinoacetate methyltransferase deficiency
- Gunther disease
H
- Harlequin-type ichthyosis
- Hartnup disease
- Heimler syndrome
- Hemophagocytic lymphohistiocytosis
- Hereditary folate malabsorption
- Hermansky–Pudlak syndrome
- Histidinemia
- Holocarboxylase synthetase deficiency
- Homocystinuria
- Hurler syndrome
- Hyperlysinemia
- Hypermethioninemia
- Hyperprolinemia
- Hypertryptophanemia
I
J
L
- Lafora disease
- Lamellar ichthyosis
- Laron syndrome
- Laurence–Moon syndrome
- Lecithin cholesterol acyltransferase deficiency syndrome
- Letterer–Siwe disease
- Leukocyte adhesion deficiency
- Leukocyte adhesion deficiency-1
- LPS-responsive beige-like anchor protein deficiency
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- Lysosomal storage disease
M
- Malonyl-CoA decarboxylase deficiency
- Maple syrup urine disease
- Meckel–Gruber syndrome
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Meleda disease
- Metachromatic leukodystrophy
- Methemoglobinemia
- Methylmalonic acidemia
- Microvillous inclusion disease
- Mismatch repair cancer syndrome
- Mitochondrial complex II deficiency
- Mitochondrial DNA depletion syndrome
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial trifunctional protein deficiency
- Morquio syndrome
- Mucopolysaccharidosis
- Mucopolysaccharidosis type III
- Mulibrey nanism
- Multiple sulfatase deficiency
- MUTYH-associated polyposis