Category:Genetic diseases and disorders
From HandWiki
Subcategories
This category has only the following subcategory.
Pages in category "Genetic diseases and disorders"
The following 200 pages are in this category, out of 234 total.
(previous page) (next page)A
- Medicine:ACDC
- Medicine:Acrofrontofacionasal dysostosis
- Medicine:Acromesomelic dysplasia
- 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:Angelman syndrome
- Medicine:Aniridia renal agenesis psychomotor retardation
- Medicine:Aprosencephaly cerebellar dysgenesis
- 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:Bachmann–Bupp syndrome
- Medicine:Bartsocas–Papas syndrome
- Medicine:Benign hereditary chorea
- Medicine:Bent bone dysplasia syndrome
- Medicine:Bifid nose
- Medicine:Bilateral frontoparietal polymicrogyria
- Medicine:Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Medicine:Blue cone monochromacy
- 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:Central diabetes insipidus
- 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
- Biology:Combined oxidative phosphorylation defect type 17
- Medicine:Combined saposin deficiency
- Medicine:Common variable immunodeficiency
- Medicine:Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Medicine:Congenital amegakaryocytic thrombocytopenia
- 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:Diabetes insipidus
- 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:Gait abnormality
- 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:Haploinsufficiency of A20
- 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:Hyperalphalipoproteinemia
- 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
K
L
M
- Medicine:Mendelian susceptibility to mycobacterial disease
- Medicine:MEPAN syndrome
- 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:Mosaic variegated aneuploidy syndrome
- Medicine:Multisystem proteinopathy
- Medicine:Myostatin-related muscle hypertrophy
N
O
P
- Medicine:Pantothenate kinase-associated neurodegeneration
- Medicine:Paroxysmal nonkinesigenic dyskinesia
- Medicine:Pascual-Castroviejo syndrome
- Medicine:PASLI disease
- Biology:Penetrance
- Medicine:PGM3 deficiency
- Medicine:Plum syndrome
- Medicine:PMM2 deficiency
- Medicine:Prader–Willi syndrome
- Medicine:Primordial dwarfism
- Medicine:PURA syndrome
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:Rett syndrome
- Medicine:Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Medicine:Ring chromosome
- Medicine:Ring chromosome 14 syndrome
- 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
- Biology:Small supernumerary marker chromosome
- Medicine:Smith-Kingsmore syndrome
- Medicine:Smith–Kingsmore syndrome
- Medicine:Snijders Blok-Campeau syndrome
- Medicine:Sorsby's fundus dystrophy
- Medicine:SPATCCM
- Medicine:Spinal muscular atrophies
- Medicine:Sponastrime dysplasia
