Category:Genetic diseases and disorders
From HandWiki
Here is a list of articles in the category Genetic diseases and disorders of the Medicine portal.
Subcategories
This category has only the following subcategory.
Pages in category "Genetic diseases and disorders"
The following 196 pages are in this category, out of 196 total.
A
- Medicine:ACDC
- Medicine:Acrofrontofacionasal dysostosis
- Medicine:Acyl-CoA oxidase deficiency
- Medicine:Adenosine deaminase 2 deficiency
- Medicine:AFF2
- Medicine:Age of onset
- Medicine:Al Gazali Sabrinathan Nair syndrome
- Medicine:Alternating hemiplegia
- Medicine:Alternating hemiplegia of childhood
- Medicine:Alwadei Syndrome
- Medicine:Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- Medicine:Ampola syndrome
- Medicine:Aniridia renal agenesis psychomotor retardation
- Medicine:Arginine:glycine amidinotransferase deficiency
- Medicine:Aromatic L-amino acid decarboxylase deficiency
- Medicine:Atelosteogenesis type I
- Medicine:Autophagic Vacuolar Myopathy
- Medicine:Autophagic vacuolar myopathy
- Medicine:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- Medicine:Autosomal dominant partial epilepsy with auditory features
- Medicine:Autosomal dominant porencephaly type I
- Medicine:Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
- Medicine:Autosomal recessive axonal neuropathy with neuromyotonia
- Medicine:Autosomal recessive bestrophinopathy
B
- Medicine:Bachmann-Bupp syndrome
- Medicine:Benign hereditary chorea
- Medicine:Bifid nose
- Medicine:Bilateral frontoparietal polymicrogyria
- Medicine:Blue cone monochromacy
- Medicine:Börjeson-Forssman-Lehmann syndrome
- Medicine:Brachial amelia, cleft lip, and holoprosencephaly
- Biology:Branched-chain keto acid dehydrogenase kinase deficiency
- Medicine:Branched-chain keto acid dehydrogenase kinase deficiency
- Medicine:Brody myopathy
C
- Medicine:Camera-Marugo-Cohen syndrome
- Medicine:CARASAL
- Medicine:CARASIL
- Medicine:Cardiospondylocarpofacial syndrome
- Medicine:CDKL5 deficiency disorder
- Medicine:Cerebellar abiotrophy
- Medicine:Cerebral creatine deficiency
- Medicine:Cerebroretinal microangiopathy with calcifications and cysts
- Medicine:CHAI disease
- Organization:CHDI Foundation
- Medicine:Chondrodysplasia, Grebe type
- Medicine:Chronic enteropathy associated with SLCO2A1 gene
- Medicine:Ciliopathy
- Medicine:Coeliac disease
- Medicine:Cole-Carpenter syndrome
- Medicine:Collins-Pope syndrome
- Medicine:Combined saposin deficiency
- Medicine:Common variable immunodeficiency
- Medicine:Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Medicine:Craniometaphyseal dysplasia
- Medicine:Creatine transporter defect
- Medicine:Curry-Jones syndrome
D
- Medicine:Dauwerse-Peters syndrome
- Medicine:Degenerative suspensory ligament desmitis
- Medicine:Dermatoosteolysis, Kirghizian type
- Medicine:Desmin-related myofibrillar myopathy
- Medicine:Distal hereditary motor neuropathy type V
- Medicine:Distal spinal muscular atrophy type 2
- Medicine:DOCK8 deficiency
- Medicine:Dunnigan familial partial lipodystrophy
F
- Medicine:Familial dwarfism and painful muscle spasms
- Medicine:Familial multiple intestinal atresia
- Medicine:Familial osteodysplasia, Anderson type
- Medicine:FATCO
- Medicine:Filippi Syndrome
- Medicine:FOXG1 syndrome
- Medicine:Fragile mental retardation 2
- Medicine:Fragile X-associated primary ovarian insufficiency
G
- Medicine:GATAD2B-associated neurodevelopmental disorder
- Medicine:Genetics of GnRH deficiency conditions
- Medicine:Global Genes
- Medicine:Glycogen storage disease type IX
- Medicine:GLYT1 encephalopathy
- Medicine:Goldmann-Favre syndrome
- Medicine:Gollop-Wolfgang complex
- Medicine:GOSR2-related progressive myoclonus ataxia
- Medicine:Guanidinoacetate methyltransferase deficiency
H
- Medicine:Hecht Scott Syndrome
- Medicine:Hemoglobin D
- Biology:Hemoglobin O
- Medicine:Hereditary diffuse leukoencephalopathy with spheroids
- Biology:HFE H63D gene mutation
- Medicine:Hereditary haemochromatosis
- Medicine:HFE hereditary haemochromatosis
- Medicine:Hyperglycerolemia
- Medicine:Hypodysfibrinogenemia
- Medicine:Hypohidrotic ectodermal dysplasia
- Medicine:Hypoplasminogenemia
I
- Medicine:Ichthyosis-intellectual disability-dwarfism-renal impairment
- Medicine:Inborn errors of steroid metabolism
- Biology:Indian Genetic Disease Database
- Medicine:Infantile cerebellar retinal degeneration
- Medicine:Infantile cortical hyperostosis
- Medicine:Inherited thrombotic thrombocytopenic purpura
- Medicine:Intellectual disability-spasticity-ectrodactyly syndrome
- Medicine:Iris hypoplasia with glaucoma
- Medicine:Isolated hyperCKemia
L
M
- Medicine:Mendelian susceptibility to mycobacterial disease
- Medicine:Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Medicine:Microcephalic primordial dwarfism, Montreal type
- Medicine:Microcephaly lymphoedema chorioretinal dysplasia
- Medicine:Microcornea, glaucoma, and absent frontal sinuses
- Medicine:Microspherophakia
- Biology:Mitochondrial complex II deficiency
- Medicine:Morse-Rawnsley-Sargent syndrome
- Medicine:Multisystem proteinopathy
- Medicine:Myostatin-related muscle hypertrophy
N
O
P
R
- Medicine:Rare functional variant
- Medicine:RAS-associated autoimmune leukoproliferative disorder
- Medicine:Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Medicine:Reparagen
- Medicine:Retinal cone dystrophy 3B
- Medicine:Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Medicine:Ring chromosome 20
- Biology:RNA-dominant disease
S
- Medicine:Saito-Kuba-Tsuruta syndrome
- Medicine:Santos-Mateus-Leal syndrome
- Medicine:Schaaf–Yang syndrome
- Medicine:Sclerosteosis
- Medicine:Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Biology:Shaker (gene)
- Biology:Shaker gene
- Medicine:Short-limb skeletal dysplasia with severe combined immunodeficiency
- Medicine:SLC35A1-CDG
- Medicine:Smith-Kingsmore syndrome
- Medicine:Snijders Blok-Campeau syndrome
- Medicine:Sorsby's fundus dystrophy
- Medicine:SPATCCM
- Medicine:Spinal muscular atrophies
- Medicine:Sponastrime dysplasia
- Medicine:Spondylocamptodactyly
- Medicine:Spondylometaphyseal dysplasia, East-African type
- Medicine:St. Helena familial genu valgum
- Medicine:STAT3 GOF
- Medicine:STING-associated vasculopathy with onset in infancy
- Medicine:Swedish mutation
- Medicine:SYNGAP1-related intellectual disability
- Medicine:SYT1-associated neurodevelopmental disorder
