Category:Autosomal recessive disorders
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Here is a list of articles in the category Autosomal recessive disorders of the Medicine portal.
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For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.
Subcategories
This category has the following 2 subcategories, out of 2 total.
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 377 total.
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2
- 2-Hydroxyglutaric aciduria (biology)
- 2-Methylbutyryl-CoA dehydrogenase deficiency (biology)
3
- 3-Methylcrotonyl-CoA carboxylase deficiency (biology)
- 3C syndrome (biology)
6
A
- Abdallat–Davis–Farrage syndrome (biology)
- Abderhalden–Kaufmann–Lignac syndrome (biology)
- Abetalipoproteinemia (biology)
- Ablepharon macrostomia syndrome (biology)
- Acatalasia (biology)
- Aceruloplasminemia (biology)
- Acheiropodia (biology)
- Acrocallosal syndrome (biology)
- Acrodermatitis enteropathica (biology)
- Acute fatty liver of pregnancy (biology)
- Acyl-CoA oxidase deficiency (biology)
- Adducted thumb syndrome (biology)
- Adenine phosphoribosyltransferase deficiency (biology)
- Adenosine deaminase 2 deficiency (biology)
- Adenosine deaminase deficiency (biology)
- Adenylosuccinate lyase deficiency (biology)
- Al-Raqad syndrome (biology)
- Albinism in humans (biology)
- Aldolase A deficiency (biology)
- ALG1-CDG (biology)
- Alkaptonuria (biology)
- ALOX12B (biology)
- Alpha-aminoadipic and alpha-ketoadipic aciduria (biology)
- Alpha-mannosidosis (biology)
- Alwadei Syndrome (biology)
- Aminoacylase 1 deficiency (biology)
- Aminolevulinic acid dehydratase deficiency porphyria (biology)
- Antley–Bixler syndrome (biology)
- Apparent mineralocorticoid excess syndrome (biology)
- Arginine:glycine amidinotransferase deficiency (biology)
- Argininemia (biology)
- Argininosuccinic aciduria (biology)
- Arterial tortuosity syndrome (biology)
- Aspartylglucosaminuria (biology)
- Atelosteogenesis, type II (biology)
- Atransferrinemia (biology)
- Autosomal recessive multiple epiphyseal dysplasia (biology)
B
- Baller–Gerold syndrome (biology)
- Bare lymphocyte syndrome (biology)
- Bare lymphocyte syndrome type II (biology)
- Batten disease (biology)
- Behr syndrome (biology)
- Berdon syndrome (biology)
- Bernard–Soulier syndrome (biology)
- Beta-ketothiolase deficiency (biology)
- Beta-mannosidosis (biology)
- Bietti's crystalline dystrophy (biology)
- Biotinidase deficiency (biology)
- Bloom syndrome (biology)
- Blue diaper syndrome (biology)
C
- Arterial calcification due to CD73 deficiency (biology)
- Calpainopathy (biology)
- CAMFAK syndrome (biology)
- Canavan disease (biology)
- CANDLE syndrome (biology)
- Carbamoyl phosphate synthetase I deficiency (biology)
- Carey Fineman Ziter syndrome (biology)
- Carnitine palmitoyltransferase I deficiency (biology)
- Carnitine palmitoyltransferase II deficiency (biology)
- Carnitine-acylcarnitine translocase deficiency (biology)
- Carnosinemia (biology)
- Carpenter syndrome (biology)
- Cartilage–hair hypoplasia (biology)
- Caspase-8 deficiency (biology)
- Cenani–Lenz syndactylism (biology)
- Cerebrotendineous xanthomatosis (biology)
- Chédiak–Higashi syndrome (biology)
- Chondrodystrophy (biology)
- Chorea acanthocytosis (biology)
- Chronic progressive external ophthalmoplegia (biology)
- Citrullinemia (biology)
- Cockayne syndrome (biology)
- Compound heterozygosity (biology)
- Congenital adrenal hyperplasia (biology)
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (biology)
- Congenital disorder of glycosylation type IIc (biology)
- Congenital hepatic fibrosis (biology)
- Congenital hypofibrinogenemia (biology)
- Congenital ichthyosiform erythroderma (biology)
- Congenital insensitivity to pain with anhidrosis (biology)
- Corneal-cerebellar syndrome (biology)
- Cranio-lenticulo-sutural dysplasia (biology)
- Cranio–lenticulo–sutural dysplasia (biology)
- Craniodiaphyseal dysplasia (biology)
- Cystathioninuria (biology)
- Cystic fibrosis (biology)
- Cystinosis (biology)
- Cystinuria (biology)
D
- D-glycerate dehydrogenase deficiency (biology)
- De Barsy syndrome (biology)
- Diastrophic dysplasia (biology)
- Dicarboxylic aminoaciduria (biology)
- Dihydropyrimidine dehydrogenase deficiency (biology)
- Distal spinal muscular atrophy type 1 (biology)
- Donohue syndrome (biology)
- DOOR syndrome (biology)
- Dopamine beta hydroxylase deficiency (biology)
- Dubin–Johnson syndrome (biology)
- Dubowitz syndrome (biology)
E
- EAST syndrome (biology)
- EEM syndrome (biology)
- Ellis–van Creveld syndrome (biology)
- Enamel-renal syndrome (biology)
- Endocardial fibroelastosis (biology)
- Essential fructosuria (biology)
- Ethylmalonic encephalopathy (biology)
F
- Familial dysautonomia (biology)
- Familial isolated vitamin E deficiency (biology)
- Familial Mediterranean fever (biology)
- Fanconi anemia (biology)
- Farber disease (biology)
- Fatty-acid metabolism disorder (biology)
- Fibrochondrogenesis (biology)
- Finnish heritage disease (biology)
- Follicle-stimulating hormone insensitivity (biology)
- Fountain syndrome (biology)
- Fraser syndrome (biology)
- Friedreich's ataxia (biology)
- Fucosidosis (biology)
- Fumarase deficiency (biology)
G
- Galactokinase deficiency (biology)
- Galactose epimerase deficiency (biology)
- Galactose-1-phosphate uridylyltransferase deficiency (biology)
- Galactosialidosis (biology)
- Galloway Mowat syndrome (biology)
- Gangliosidosis (biology)
- GAPO syndrome (biology)
- Gastroschisis (biology)
- Gaucher's disease (biology)
- Generalized arterial calcification of infancy (biology)
- Gerodermia osteodysplastica (biology)
- Giant axonal neuropathy (biology)
- Gillespie syndrome (biology)
- Gitelman syndrome (biology)
- Glanzmann's thrombasthenia (biology)
- Glucose-galactose malabsorption (biology)
- Glutaric acidemia type 2 (biology)
- Glutaric aciduria type 1 (biology)
- Glutathione synthetase deficiency (biology)
- Glycine encephalopathy (biology)
- Glycogen storage disease type I (biology)
- Glycogen storage disease type II (biology)
- Glycogen storage disease type III (biology)
- Glycogen storage disease type V (biology)
- Phosphofructokinase deficiency (biology)
- GM1 gangliosidoses (biology)
- GM2 gangliosidoses (biology)
- GM2-gangliosidosis, AB variant (biology)
- Gonadotropin-releasing hormone insensitivity (biology)
- Griscelli syndrome (biology)
- Guanidinoacetate methyltransferase deficiency (biology)
- Gunther disease (biology)
H
- H syndrome (biology)
- Harding ataxia (biology)
- Harlequin-type ichthyosis (biology)
- Hartnup disease (biology)
- Heimler syndrome (biology)
- Hemophagocytic lymphohistiocytosis (biology)
- Hereditary folate malabsorption (biology)
- Hereditary pyropoikilocytosis (biology)
- Hermansky–Pudlak syndrome (biology)
- Histidinemia (biology)
- Holocarboxylase synthetase deficiency (biology)
- Homocystinuria (biology)
- Hurler syndrome (biology)
- Mucopolysaccharidosis type I (biology)
- Hyperlysinemia (biology)
- Hypermethioninemia (biology)
- Hyperprolinemia (biology)
- Hypertryptophanemia (biology)
- Hypervalinemia (biology)
- Hypomagnesemia with secondary hypocalcemia (biology)
- Hypotransferrinemia (biology)
I
- Imerslund–Gräsbeck syndrome (biology)
- Iminoglycinuria (biology)
- Immunodeficiency–centromeric instability–facial anomalies syndrome (biology)
- Impossible syndrome (biology)
- Infantile free sialic acid storage disease (biology)
- Infantile neuroaxonal dystrophy (biology)
- Infantile Refsum disease (biology)
- Infantile systemic hyalinosis (biology)
- Isobutyryl-coenzyme A dehydrogenase deficiency (biology)
- Isolated 17,20-lyase deficiency (biology)
- Isovaleric acidemia (biology)
J
- Jalili syndrome (biology)
- Jansky–Bielschowsky disease (biology)
- Jervell and Lange-Nielsen syndrome (biology)
- Johanson–Blizzard syndrome (biology)
- Juberg-Hayward syndrome (biology)
- Juvenile primary lateral sclerosis (biology)
K
- Kapur–Toriello syndrome (biology)
- Kaufman oculocerebrofacial syndrome (biology)
- Keutel syndrome (biology)
- Kindler syndrome (biology)