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More than 100 pages use this file. The following list shows the first 100 pages that use this file only. A full list is available.
- 2-Hydroxyglutaric aciduria
- Abetalipoproteinemia
- Aceruloplasminemia
- Acheiropodia
- Acrodermatitis enteropathica
- Adducted thumb syndrome
- Adenine phosphoribosyltransferase deficiency
- Adenylosuccinate lyase deficiency
- Alpha-mannosidosis
- Apparent mineralocorticoid excess syndrome
- Ataxia–telangiectasia
- Atelosteogenesis, type II
- Batten disease
- Behr syndrome
- Berdon syndrome
- Beta-ketothiolase deficiency
- Biotinidase deficiency
- Bloom syndrome
- Blue diaper syndrome
- Canavan disease
- Carnitine-acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyltransferase I deficiency
- Cartilage–hair hypoplasia
- Chondrodystrophy
- Cockayne syndrome
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Craniodiaphyseal dysplasia
- Cystic fibrosis
- Cystinosis
- Diastrophic dysplasia
- Dubin–Johnson syndrome
- Ethylmalonic encephalopathy
- Familial Mediterranean fever
- Familial dysautonomia
- Fanconi anemia
- Fountain syndrome
- Fraser syndrome
- Friedreich's ataxia
- Fumarase deficiency
- GM2-gangliosidosis, AB variant
- Giant axonal neuropathy
- Gitelman syndrome
- Glutaric acidemia type 2
- Glycine encephalopathy
- Glycogen storage disease type I
- Glycogen storage disease type II
- Glycogen storage disease type III
- Griscelli syndrome
- Hartnup disease
- Histidinemia
- Holocarboxylase synthetase deficiency
- Human genetics
- Hurler syndrome
- Isobutyryl-coenzyme A dehydrogenase deficiency
- Isovaleric acidemia
- Jervell and Lange-Nielsen syndrome
- Lafora disease
- Leukodystrophy
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Lucey–Driscoll syndrome
- Lysinuric protein intolerance
- Meleda disease
- Methemoglobinemia
- Methylmalonic acidemias
- Mitochondrial trifunctional protein deficiency
- Mucolipidosis
- Mucolipidosis type IV
- Mucopolysaccharidosis
- N-Acetylglutamate synthase deficiency
- Omenn syndrome
- Otospondylomegaepiphyseal dysplasia
- Pendred syndrome
- Persistent Müllerian duct syndrome
- Phenylketonuria
- Progressive familial intrahepatic cholestasis
- Propionic acidemia
- Pseudoxanthoma elasticum
- Robinow syndrome
- Situs inversus
- Sly syndrome
- Spinocerebellar ataxia
- Succinic semialdehyde dehydrogenase deficiency
- Sugarman syndrome
- Tangier disease
- Tay–Sachs disease
- Tetrahydrobiopterin deficiency
- Trimethylaminuria
- Tyrosinemia
- Very long-chain acyl-coenzyme A dehydrogenase deficiency
- Von Willebrand disease
- Walker–Warburg syndrome
- Weissenbacher–Zweymüller syndrome
- Werner syndrome
- Wilson's disease
- Wolfram syndrome
- Xeroderma pigmentosum
- ZAP70 deficiency
- Talk:Dominance (genetics)
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