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. |
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 286 total.
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A
- Abdallat–Davis–Farrage syndrome
- Abetalipoproteinemia
- Acatalasemia
- Aceruloplasminemia
- Acheiropodia
- Acrocallosal syndrome, Schinzel type
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Adducted thumb syndrome
- Adenine phosphoribosyltransferase deficiency
- Adenosine Deaminase 2 deficiency
- Adenosine deaminase deficiency
- Adenylosuccinase deficiency
- Albinism in humans
- Aldolase A deficiency
- ALG1-CDG (CDG-Ik)
- Alkaptonuria
- ALOX12B
- Alpers disease
- Alpha-mannosidosis
- Aminoacylase 1 deficiency
- Aminolevulinic acid dehydratase deficiency porphyria
- Anauxetic dysplasia
- Antley–Bixler syndrome
- Apparent mineralocorticoid excess syndrome
- Arginase deficiency
- Argininosuccinate lyase deficiency
- Argininosuccinic aciduria
- Arterial tortuosity syndrome
- Aspartylglycosaminuria
- Ataxia with vitamin E deficiency
- Atelosteogenesis type 2
- Atransferrinemia
- Autosomal recessive cerebellar ataxia
B
C
- Canavan disease
- Carbamoyl phosphate synthetase 1 deficiency
- Carey-Fineman-Ziter syndrome
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Carpenter syndrome
- Cartilage–hair hypoplasia
- Cenani–Lenz syndactylism
- Syndactyly Cenani Lenz type
- Cerebrotendineous xanthomatosis
- Chédiak–Higashi syndrome
- Cholesteryl ester storage disease
- Chorea-acanthocytosis
- Choreoacanthocytosis
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
- Chronic progressive external ophthalmoplegia
- Citrullinemia type II
- Cockayne syndrome
- Cone-rod dystrophy amelogenesis imperfecta
- Congenital disorder of glycosylation type IIc
- Congenital erythropoietic porphyria
- Nonbullous congenital ichthyosiform erythroderma
- Congenital insensitivity to pain with anhidrosis
- Cranio-lenticulo-sutural dysplasia
- Cystinosis
- Cystinuria
D
F
G
- Galactokinase deficiency
- Galactosialidosis
- Galloway-Mowat syndrome
- Gamma-cystathionase deficiency
- Gastroschisis
- Gaucher disease
- Gaucher disease perinatal lethal
- Gaucher's disease
- Generalized arterial calcification of infancy
- Gitelman syndrome
- Glanzmann thrombasthenia
- Glutaric acidemia type II
- Glutaric aciduria type 1
- Glycogen storage disease type 5
- Glycogen storage disease type I
- Generalized gangliosidoses
- Glycogen storage disease type 2
- Glycogen storage disease type II
- Glycogen storage disease type 3
- Glycogen storage disease type 7
- GM1 gangliosidoses
- Gonadotropin-releasing hormone insensitivity
- Guanidinoacetate methyltransferase deficiency
- Gyrate atrophy of choroid and retina
H
- H syndrome
- Harlequin ichthyosis
- Harlequin-type ichthyosis
- Hemophagocytic lymphohistiocytosis
- Hereditary folate malabsorption
- Hereditary methemoglobinemia
- Hereditary orotic aciduria without megaloblastic anaemia
- Hermansky Pudlak syndrome 2
- Hermansky-Pudlak syndrome
- HHH syndrome
- HIOC
- Histidinemia
- Histiocytosis-lymphadenopathy plus syndrome
- Holocarboxylase synthetase
- Homocystinuria
- Homocystinuria due to CBS deficiency
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- Hyperprolinemia type 2
- Hypofibrinogenemia, familial
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
I
J
L
M
- Malonyl-CoA decarboxylase deficiency
- Marden–Walker syndrome
- McArdle's disease
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Metachromatic leukodystrophy
- Methemoglobinemia
- Methylmalonic acidemia with homocystinuria
- Mevalonate kinase deficiency
- Mild phenylketonuria
- Mitochondrial complex II deficiency
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial trifunctional protein deficiency
- Morquio syndrome
- Mucopolysaccharidosis type IVA
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Mucolipidosis III alpha/beta
- Mucolipidosis type 4
- Mucopolysaccharidosis type VII
- Multiple sulfatase deficiency
- Myopathic carnitine deficiency
N
- N-Acetylglutamate synthase deficiency
- N-acetylglutamate synthase deficiency
- Nemaline myopathy
- Nephronophthisis
- Netherton syndrome
- Neuronal ceroid lipofuscinosis
- Ceroid lipofuscinosis neuronal 1
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6