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 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 210 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:Agenesis of the vena cava
- Medicine:Al Gazali Sabrinathan Nair syndrome
- Medicine:Alpha-thalassemia mental retardation syndrome
- Medicine:Alternating hemiplegia
- Medicine:Alternating hemiplegia of childhood
- Medicine:Alwadei Syndrome
- Medicine:Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- 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:Benign hereditary chorea
- Medicine:Bifid nose
- Medicine:Bilateral frontoparietal polymicrogyria
- Medicine:Biotin-thiamine-responsive basal ganglia disease
- 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:CACNA1C-related disorders
- Medicine:Camera-Marugo-Cohen syndrome
- 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:Choroideremia
- Medicine:Chronic enteropathy associated with SLCO2A1 gene
- Medicine:Ciliopathy
- Medicine:Coeliac disease
- Medicine:Cole-Carpenter syndrome
- Medicine:Collins-Pope syndrome
- Medicine:Common variable immunodeficiency
- Medicine:Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Medicine:Congenital amegakaryocytic thrombocytopenia
- Medicine:Congenital fibrosis of the extraocular muscles
- 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
- Biology:Dysosteosclerosis
F
- Medicine:Familial dwarfism and painful muscle spasms
- Medicine:Familial multiple intestinal atresia
- Medicine:Familial opposable triphalangeal thumbs duplication
- Medicine:Familial osteodysplasia, Anderson type
- Medicine:FATCO
- Medicine:Filippi 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:Glutaminase deficiency
- Medicine:Glycogen storage disease type IX
- Medicine:Goldmann-Favre syndrome
- Medicine:Gollop-Wolfgang complex
- Medicine:GOSR2-related progressive myoclonus ataxia
H
- Medicine:Haploinsufficiency of A20
- Medicine:Hecht Scott Syndrome
- Medicine:Helsmoortel-Van der Aa syndrome
- Biology:Hemoglobin O
- Medicine:Hereditary diffuse leukoencephalopathy with spheroids
- Biology:HFE H63D gene mutation
- Medicine:Hereditary haemochromatosis
- Medicine:HFE hereditary haemochromatosis
- Medicine:Huntington's disease
- Medicine:Hyperglycerolemia
- Medicine:Hypodysfibrinogenemia
- Medicine:Hypohidrotic ectodermal dysplasia
- Medicine:Hypoplasminogenemia
I
- Medicine:Ichthyosis-intellectual disability-dwarfism-renal impairment
- Medicine:Immunodeficiency 26
- 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
- Medicine:Pantothenate kinase-associated neurodegeneration
- Medicine:Paroxysmal nonkinesigenic dyskinesia
- Medicine:Pascual-Castroviejo syndrome
- Medicine:PASLI disease
- Medicine:PGM3 deficiency
- Medicine:Plum syndrome
- Medicine:PMM2 deficiency
- Medicine:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Medicine:Primordial dwarfism
R
- Medicine:Rare functional variant
- Medicine:Rare variant (genetics)
- Medicine:RAS-associated autoimmune leukoproliferative disorder
- Medicine:Reparagen
- Medicine:Retinal cone dystrophy 3B
- Medicine:Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Medicine:Ring 18
- Medicine:Ring chromosome 18
- Medicine:Ring chromosome 20
- Biology:RNA-dominant disease
S
- Medicine:Saito-Kuba-Tsuruta syndrome
- Medicine:Santos-Mateus-Leal syndrome
- Medicine:Sclerosteosis
- Medicine:Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Medicine:Serkal syndrome
- Biology:Shaker (gene)
- Biology:Shaker gene
- Medicine:Short-limb skeletal dysplasia with severe combined immunodeficiency
- Medicine:SLC35A1-CDG
- Medicine:Snijders Blok-Campeau syndrome
- Medicine:Sorsby's fundus dystrophy
- Medicine:Spastin
- 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
