Category:Autosomal recessive disorders
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Here is a list of articles in the category Autosomal recessive disorders of the Medicine portal.
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.
C
- Cystic fibrosis (27 P)
S
- Sickle-cell disease (10 P)
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 454 total.
(previous page) (next page)H
- Medicine:Hereditary folate malabsorption
- Medicine:Hereditary pyropoikilocytosis
- Medicine:Hermansky–Pudlak syndrome
- Medicine:Histidinemia
- Medicine:Holocarboxylase synthetase deficiency
- Medicine:Homocystinuria
- Medicine:Hurler syndrome
- Medicine:Hyperlysinemia
- Biology:Hypermethioninemia
- Medicine:Hyperprolinemia
- Medicine:Hypertryptophanemia
- Medicine:Hypervalinemia
- Medicine:Hypomagnesemia with secondary hypocalcemia
- Biology:Hypotransferrinemia
I
- Medicine:Ichthyosis-intellectual disability-dwarfism-renal impairment
- Medicine:Imerslund–Gräsbeck syndrome
- Medicine:Iminoglycinuria
- Medicine:Immunodeficiency–centromeric instability–facial anomalies syndrome
- Medicine:Impossible syndrome
- Medicine:Infantile cerebellar retinal degeneration
- Medicine:Infantile free sialic acid storage disease
- Medicine:Infantile neuroaxonal dystrophy
- Medicine:Infantile Refsum disease
- Medicine:Infantile systemic hyalinosis
- Medicine:Intellectual disability-spasticity-ectrodactyly syndrome
- Medicine:Isobutyryl-coenzyme A dehydrogenase deficiency
- Medicine:Isolated 17,20-lyase deficiency
- Medicine:Isolated hyperchlorhidrosis
- Medicine:Isovaleric acidemia
J
K
L
- Medicine:Lafora disease
- Medicine:Lamellar ichthyosis
- Medicine:Laron syndrome
- Biology:Late onset congenital adrenal hyperplasia
- Medicine:Late onset congenital adrenal hyperplasia
- Medicine:Laurence–Moon syndrome
- Medicine:Lecithin cholesterol acyltransferase deficiency
- Medicine:Lethal congenital contracture syndrome
- Medicine:Letterer–Siwe disease
- Medicine:Leukocyte adhesion deficiency
- Medicine:Leukocyte adhesion deficiency-1
- Medicine:Leydig cell hypoplasia
- Medicine:Lipoid congenital adrenal hyperplasia
- Medicine:Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Medicine:LPS-responsive beige-like anchor protein deficiency
- Medicine:Lucey–Driscoll syndrome
- Medicine:Lysinuric protein intolerance
- Medicine:Lysosomal acid lipase deficiency
- Medicine:Lysosomal storage disease
M
- Medicine:Mahvash disease
- Medicine:Malonyl-CoA decarboxylase deficiency
- Medicine:Malpuech facial clefting syndrome
- Biology:Management of thalassemia
- Medicine:Mandibulofacial dysostosis-microcephaly syndrome
- Medicine:Maple syrup urine disease
- Medicine:Marden–Walker syndrome
- Medicine:McKusick–Kaufman syndrome
- Medicine:Meckel syndrome
- Medicine:Meckel–Gruber syndrome
- Medicine:Mediastinal fibrosis
- Medicine:Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medicine:Meleda disease
- Medicine:Metachromatic leukodystrophy
- Medicine:Methemoglobinemia
- Medicine:Methylmalonic acidemia
- Medicine:Mevalonate kinase deficiency
- Medicine:Michels syndrome
- Medicine:Micro syndrome
- Biology:Microhydranencephaly
- Medicine:Microspherophakia
- Medicine:Microvillous inclusion disease
- Biology:Mietens syndrome
- Medicine:Mietens syndrome
- Medicine:Mismatch repair cancer syndrome
- Biology:Mitochondrial complex II deficiency
- Medicine:Mitochondrial DNA depletion syndrome
- Medicine:Mitochondrial neurogastrointestinal encephalopathy syndrome
- Biology:Mitochondrial pyruvate carrier
- Biology:Mitochondrial pyruvate carrier 1
- Biology:Mitochondrial pyruvate carrier 2
- Medicine:Mitochondrial trifunctional protein deficiency
- Medicine:MORM syndrome
- Medicine:Morquio syndrome
- Medicine:MPI-CDG
- Medicine:Mucolipidosis
- Medicine:Mucolipidosis type IV
- Medicine:Mucopolysaccharidosis
- Medicine:Mucopolysaccharidosis type I
- Medicine:Mulibrey nanism
- Medicine:Multiple sulfatase deficiency
- Medicine:MUTYH-associated polyposis
N
- Medicine:N-Acetylglutamate synthase deficiency
- Medicine:Nakajo syndrome
- Medicine:Nemaline myopathy
- Medicine:Nephronophthisis
- Medicine:Nestor-Guillermo progeria syndrome
- Medicine:Netherton syndrome
- Medicine:Neu-Laxova syndrome
- Medicine:Neu–Laxova syndrome
- Medicine:Neuronal ceroid lipofuscinosis
- Medicine:Nevo syndrome
- Medicine:Nezelof syndrome
- Medicine:NGLY1 deficiency
- Medicine:Niemann–Pick disease
- Medicine:Niemann–Pick disease, SMPD1-associated
- Medicine:Niemann–Pick disease, type C
- Medicine:Nijmegen breakage syndrome
- Biology:North American Indian childhood cirrhosis
O
- Medicine:Ochronosis
- Medicine:Oculocutaneous albinism
- Medicine:Oculocutaneous albinism type I
- Medicine:Oculodentodigital dysplasia
- Medicine:Odontoonychodermal dysplasia
- Medicine:Oguchi disease
- Medicine:Omenn syndrome
- Medicine:Opsismodysplasia
- Medicine:Ornithine aminotransferase deficiency
- Medicine:Ornithine translocase deficiency
- Medicine:Orotic aciduria
- Medicine:Osteoporosis-pseudoglioma syndrome
- Medicine:Otofaciocervical syndrome
- Medicine:Otospondylomegaepiphyseal dysplasia
P
- Medicine:Papillary fibroelastoma
- Medicine:Papillon–Lefèvre syndrome
- Medicine:Pascual-Castroviejo syndrome
- Medicine:Pascual-Castroviejo syndrome type 1
- Medicine:Pendred syndrome
- Medicine:Persistent Müllerian duct syndrome
- Medicine:Phenylketonuria
- Medicine:Pipecolic acidemia
- Medicine:Pontocerebellar hypoplasia
- Medicine:Porencephaly-cerebellar hypoplasia-internal malformations syndrome
- Biology:Posterior column ataxia-retinitis pigmentosa syndrome
- Medicine:Primary ciliary dyskinesia
- Medicine:Prolidase deficiency
- Medicine:Propionic acidemia
- Medicine:Pseudo-Hurler polydystrophy
- Biology:Pseudodominance
- Medicine:Pseudoxanthoma elasticum
- Biology:Pterin-4 alpha-carbinolamine dehydratase deficiency
- Medicine:Purine nucleoside phosphorylase deficiency
- Medicine:Pycnodysostosis
- Medicine:Pyknoachondrogenesis
- Medicine:Pyruvate carboxylase deficiency
R
- Medicine:Rabson–Mendenhall syndrome
- Medicine:Raine syndrome
- Medicine:RAPADILINO syndrome
- Medicine:Reardon-Hall-Slaney syndrome
- Medicine:Refsum disease
- Medicine:Renal dysplasia-limb defects syndrome
- Medicine:Renal-hepatic-pancreatic dysplasia
- Medicine:Renal–hepatic–pancreatic dysplasia
- Biology:Reproductive compensation
- Medicine:Restrictive dermopathy
- Medicine:Retinal cone dystrophy 3B
- Biology:Riboflavin-responsive exercise intolerance
- Medicine:Roberts syndrome
- Medicine:Rothmund–Thomson syndrome
- Medicine:Rotor syndrome
- Medicine:Ruijs-Aalfs syndrome
S
- Medicine:Sabinas brittle hair syndrome
- Medicine:Salla disease
- Medicine:Salt and pepper syndrome
- Medicine:Sandhoff disease
- Medicine:Sanfilippo syndrome
- Medicine:Sanjad-Sakati syndrome
- Medicine:Santos-Mateus-Leal syndrome
- Medicine:Santos–Mateus–Leal syndrome
- Medicine:Sarcosinemia
- Biology:Schimke syndrome
- Medicine:Schimke syndrome
- Medicine:Schneckenbecken dysplasia
- Medicine:Sengers syndrome
- Medicine:Senior–Løken syndrome
- Medicine:Severe congenital neutropenia
- Medicine:Short-chain acyl-coenzyme A dehydrogenase deficiency
- Medicine:Short-limb skeletal dysplasia with severe combined immunodeficiency
- Medicine:Shwachman–Diamond syndrome
- Medicine:Sickle cell disease
- Medicine:Sickle cell trait
- Medicine:Situs inversus
- Medicine:Sly syndrome
- Medicine:Smith–Lemli–Opitz syndrome
- Medicine:SOFT syndrome
- Medicine:Sonoda syndrome
- Medicine:Spastic ataxia-corneal dystrophy syndrome
- Biology:SPG15 (disease)