Category:Autosomal recessive disorders
From WikiMD's Wellness Encyclopedia
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 3 subcategories, out of 3 total.
C
I
S
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 328 total.
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A
- Abdallat–Davis–Farrage syndrome
- Abetalipoproteinemia
- Acatalasemia
- Acatalasia
- 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
- Alstrom
- 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
- Aspartylglucosaminuria
- Aspartylglycosaminuria
- Ataxia with vitamin E deficiency
- Atelosteogenesis type 2
- Atransferrinemia
- Autosomal recessive cerebellar ataxia
- Autosomal recessive disorder
- Autosomal recessive disorders
- Autosomal recessive isolated ectopia lentis
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
- Chondrodysplasia, Grebe type
- 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
- DDX11
- De Barsy syndrome
- DeSanctis–Cacchione syndrome
- DFNB31
- Dihydrolipoamide dehydrogenase deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Donnai Barrow syndrome
- Donnai–Barrow syndrome
- Donohue syndrome
- DOOR syndrome
- Dopamine beta hydroxylase deficiency
- Dopamine transporter deficiency syndrome
- Dubin–Johnson syndrome
E
F
- Familial LCAT deficiency
- Familial Mediterranean fever
- Familial nasal acilia
- Fanconi anemia
- Farber disease
- Farber's disease
- Fibrochondrogenesis
- Fitzsimmons–Guilbert syndrome
- Follicle-stimulating hormone insensitivity
- Fraser syndrome
- Free sialic acid storage disease
- Friedreich's ataxia
- Fucosidosis
- Fumarase deficiency
G
- Galactokinase deficiency
- Galactosialidosis
- Galloway-Mowat syndrome
- Gamma-cystathionase deficiency
- GAPO syndrome
- 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
- Griscelli syndrome type 3
- Guanidinoacetate methyltransferase deficiency
- Gyrate atrophy of choroid and retina
H
- H syndrome
- Haim–Munk syndrome
- Harlequin ichthyosis
- Harlequin-type ichthyosis
- Hartnup disease
- Hemophagocytic lymphohistiocytosis
- Hennekam syndrome
- 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
- Hydrocephalus autosomal recessive
- Hydrolethalus syndrome
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- Hyperprolinemia type 2
- Hypofibrinogenemia, familial
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome