Category:Autosomal recessive disorders
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For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.
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Subcategories
This category has only the following subcategory.
I
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 243 total.
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- Abdallat–Davis–Farrage syndrome
- Abderhalden–Kaufmann–Lignac syndrome
- Abetalipoproteinemia
- Acatalasia
- Aceruloplasminemia
- Acheiropodia
- Acrocallosal syndrome
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Adducted thumb syndrome
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase deficiency
- Adenylosuccinate lyase deficiency
- Aldolase A deficiency
- Alkaptonuria
- Alpha-mannosidosis
- Aminolevulinic acid dehydratase deficiency porphyria
- Antley–Bixler syndrome
- Apparent mineralocorticoid excess syndrome
- Argininosuccinic aciduria
- Aspartylglucosaminuria
- Atelosteogenesis, type II
- Atransferrinemia
- Autosomal recessive multiple epiphyseal dysplasia
B
C
- CAMFAK syndrome
- Canavan disease
- Carbamoyl phosphate synthetase I deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Carpenter syndrome
- Cartilage–hair hypoplasia
- Cenani–Lenz syndactylism
- Cerebrotendineous xanthomatosis
- Chédiak–Higashi syndrome
- Cholesteryl ester storage disease
- Chondrodystrophy
- Chorea acanthocytosis
- Chronic progressive external ophthalmoplegia
- Citrullinemia
- Cockayne syndrome
- Compound heterozygosity
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital insensitivity to pain with anhidrosis
- Cranio–lenticulo–sutural dysplasia
- Craniodiaphyseal dysplasia
- Cystic fibrosis
- Cystinosis
- Cystinuria
D
E
F
- Familial dysautonomia
- Familial isolated vitamin E deficiency
- Familial Mediterranean fever
- Fanconi anemia
- Farber disease
- Fatty-acid metabolism disorder
- Fibrochondrogenesis
- Finnish heritage disease
- Follicle-stimulating hormone insensitivity
- Fountain syndrome
- Fraser syndrome
- Friedreich's ataxia
- Fumarase deficiency
G
- Galactose-1-phosphate uridylyltransferase deficiency
- Galactosialidosis
- Galloway Mowat syndrome
- Gangliosidosis
- GAPO syndrome
- Gastroschisis
- Gaucher's disease
- Genetic studies on Arabs
- Gerodermia osteodysplastica
- Giant axonal neuropathy
- Gitelman syndrome
- Glanzmann's thrombasthenia
- 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
- GM2-gangliosidosis, AB variant
- Gonadotropin-releasing hormone insensitivity
- Griscelli syndrome
- Gunther disease
H
I
J
K
L
- Lafora disease
- Lamellar ichthyosis
- Laron syndrome
- Laurence–Moon syndrome
- Lecithin cholesterol acyltransferase deficiency
- Lethal congenital contracture syndrome
- Letterer–Siwe disease
- Leukocyte adhesion deficiency
- Leydig cell hypoplasia
- Lipoid congenital adrenal hyperplasia
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- Lysosomal storage disease
M
- Malonyl-CoA decarboxylase deficiency
- Management of thalassemia
- Maple syrup urine disease
- Marden–Walker syndrome
- Meckel syndrome
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Metachromatic leukodystrophy
- Methemoglobinemia
- Methylmalonic acidemia
- Mevalonate kinase deficiency
- Micro syndrome
- Mismatch repair cancer syndrome
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial trifunctional protein deficiency
- Morquio syndrome
- Mucolipidosis
- Mucolipidosis type IV
- Mucopolysaccharidosis
- Mulibrey nanism
- Multiple sulfatase deficiency
