Category:Genetic diseases and disorders
From WikiMD's Food, Medicine & Wellness Encyclopedia
Subcategories
This category has the following 2 subcategories, out of 2 total.
Pages in category "Genetic diseases and disorders"
The following 200 pages are in this category, out of 309 total.
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A
- Acrofrontofacionasal dysostosis
- Acrofrontofacionasal dysostosis syndrome
- Acromesomelic dysplasia
- Activated PI3K delta syndrome
- Acyl-CoA oxidase deficiency
- Adenosine Deaminase 2 deficiency
- Alpha-thalassemia Mental Retardation
- Alpha-thalassemia x-linked intellectual disability syndrome
- Alternating hemiplegia
- Alternating hemiplegia of childhood
- Amelogenesis imperfecta nephrocalcinosis
- Andermann syndrome
- Antiphospholipid syndrome, familial
- Antiphospholipid Syndrome, Familial
- Apparent mineralocorticoid excess syndrome
- Arginine:glycine amidinotransferase deficiency
- Aromatic L-amino acid decarboxylase deficiency
- Atelosteogenesis type 1
- Atelosteogenesis type I
- Auto-inflammatory diseases
- Autosomal dominant cerebellar ataxia
- Autosomal dominant porencephaly type I
- Autosomal recessive cerebellar ataxia
B
- Baker–Vinters syndrome
- Bamforth syndrome
- Benign hereditary chorea
- Beta-ketothiolase deficiency
- Bilateral frontoparietal polymicrogyria
- Borjeson-Forssman-Lehmann syndrome
- Brain-lung-thyroid syndrome
- Branched-chain keto acid dehydrogenase kinase deficiency
- Branchiooculofacial syndrome
- Brody myopathy
- Bruck syndrome
- Bruck syndrome 1
- Bulbospinal amyotrophy, X-linked
C
- CACH syndrome
- Caffey disease
- Camptodactyly arthropathy coxa vara pericarditis syndrome
- Cardiac conduction defect, familial
- Cardiomyopathy diabetes deafness
- Cardiomyopathy dilated with conduction defect type 2
- Cardiomyopathy, X linked, fatal infantile
- Carey-Fineman-Ziter syndrome
- CDG syndrome type 1B
- CDG syndrome type 2
- CDK4 linked melanoma
- Cerebellar ataxia areflexia pes cavus optic atrophy
- Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Cerebellar ataxia, dominant pure
- Cerebroretinal microangiopathy with calcifications and cysts
- CFHR5 nephropathy
- CGD
- CHARGE syndrome
- Cholesterol esterification disorder
- Chorea familial benign
- Chromosome 10p deletion
- Chronic, infantile, neurological, cutaneous, articular syndrome
- Cleidocranial dysostosis
- Coarctation of aorta dominant
- Coeliac disease
- Cole Carpenter syndrome
- Cole-Carpenter syndrome
- Combined malonic and methylmalonic aciduria
- Complement 3 deficiency
- Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
- Congenital hepatic porphyria
- Congenital lactic acidosis
- Congenital nonhemolytic jaundice
- Congenital pernicious anemia
- Congenital thrombotic thrombocytopenic purpura
- Convulsions benign familial neonatal dominant form
- Cori's disease
- Costeff syndrome
- CPS I
- Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia, autosomal recessive type
- CRB1
D
- Daneman–Davy–Mancer syndrome
- De Vivo disease
- Dehydratase deficiency
- Dent's disease
- Diabetes persistent Müllerian ducts
- Diarrhea polyendocrinopathy infections X linked
- Dionisi–Vici–Sabetta–Gambarara syndrome
- Distal spinal muscular atrophy type 1
- Distal spinal muscular atrophy type 2
- DOPA-responsive dystonia
- Down syndrome
- Down's syndrome
E
F
G
- Gain-of-function mutation
- Galactose-1-phosphate Uridylyltransferase Deficiency
- Generalized glucocorticoid resistance
- Genetic equilibrium
- Genetic heterogeneity
- Genetic predisposition to disease
- Genetics of amyotrophic lateral sclerosis
- Genetics of GnRH deficiency conditions
- Gerstmann-Straussler syndrome
- Glaucoma iridogoniodysgenesia
- Glucosephosphate isomerase deficiency
- Glutamate decarboxylase deficiency
- Glutamate dehydrogenase
- Glutamate-aspartate transport defect
- Glycine synthase deficiency
- Glycogen storage disease type v
- Glycogen-branching enzyme deficiency
- GnRH insensitivity
- Gonadal dysgenesis XY type associated anomalies
- Gordon syndrome
- GPR143
H
- Heart block progressive, familial
- Hemiplegia alterans
- Hereditary diffuse leukoencephalopathy with spheroids
- Hereditary lobular breast cancer
- Hereditary nonpolyposis colorectal cancer
- Hereditary paroxysmal cerebral ataxia
- Hereditary type 2 neuropathy
- Hershey bar
- Hemochromatosis type 2
- HIBCH deficiency
- Hirschsprung disease type 2
- Histiocytosis-lymphadenopathy plus syndrome
- HMG CoA synthetase deficiency
- Holocarboxylase synthetase deficiency
- Homocarnosinase deficiency
- Huntington's disease
- Hyperimidodipeptiduria
- Hyperimmunoglobulinemia D with recurrent fever
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydrop
- Hyperprolinemia type II
- Hypertropic neuropathy of Dejerine-Sottas
- Hypodysfibrinogenemia
- Hypoglycemia with deficiency of glycogen synthetase in the liver
- Hypogonadotropic hypogonadism-anosmia, X linked
- Hypomagnesemia primary
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
- Hypoproconvertinemia
- Hypotonic sclerotic muscular dystrophy
I
L
- L-arginine:glycine amidinotransferase deficiency
- Lactate dehydrogenase deficiency type A
- Lactate dehydrogenase deficiency type B
- Lactic acidosis congenital infantile
- Leukodystrophy, Sudanophilic
- Levine-Critchley syndrome
- Leydig cell hypoplasia
- Liebenberg syndrome
- Lipid storage myopathy
- Lipidoses
- Lipidosis with triglyceride storage disease
- Lipoamide dehydrogenase deficiency
- LPS-responsive beige-like anchor protein deficiency
- Lysine alpha-ketoglutarate reductase deficiency
M
- Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
- Mannose phosphate isomerase
- Maple sugar urine disease
- Marie type ataxia
- McArdle syndrome
- Megalencephalic leukodystrophy
- Meier-Gorlin syndrome
- Micrencephaly olivopontocerebellar hypoplasia
- Microcephalic osteodysplastic primordial dwarfism type 1
- Microcephaly pontocerebellar hypoplasia dyskinesia
- MicroRNA 499a
- Midline defects recessive type
- Mietens syndrome
- Mitochondrial complex II deficiency
- Mitochondrial encephalomyopathy aminoacidopathy
- Mitochondrial myopathy lactic acidosis
- Mitochondrial PEPCK deficiency
