Category:Genetic diseases and disorders
Wikimedia Commons has media related to Genetic diseases and disorders.
Subcategories
This category has the following 14 subcategories, out of 14 total.
Pages in category "Genetic diseases and disorders"
The following 200 pages are in this category, out of approximately 212 total. This list may not reflect recent changes.
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- ACDC (medicine)
- Acrofrontofacionasal dysostosis
- Acromesomelic dysplasia
- Acyl-CoA oxidase deficiency
- Adenosine deaminase 2 deficiency
- AFF2
- Age of onset
- Agenesis of the vena cava
- Aicardi–Goutières syndrome
- Alternating hemiplegia
- Alternating hemiplegia of childhood
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- Ampola syndrome
- Angelman syndrome
- Aniridia renal agenesis psychomotor retardation
- Aprosencephaly cerebellar dysgenesis
- Arginine:glycine amidinotransferase deficiency
- Aromatic L-amino acid decarboxylase deficiency
- Arthrogryposis multiplex with deafness, inguinal hernias, and early death
- Atelosteogenesis type I
- Autophagic vacuolar myopathy
- Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- Autosomal dominant partial epilepsy with auditory features
- Autosomal dominant porencephaly type I
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bestrophinopathy
B
- Bachmann–Bupp syndrome
- Bartsocas–Papas syndrome
- Benign hereditary chorea
- Bifid nose
- Bilateral frontoparietal polymicrogyria
- Biotin-thiamine-responsive basal ganglia disease
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blue-cone monochromacy
- Brachial amelia, cleft lip, and holoprosencephaly
- Branched-chain keto acid dehydrogenase kinase deficiency
- Brody myopathy
C
- CACNA1C-related disorders
- CARASAL
- CARASIL
- CDKL5 deficiency disorder
- Cerebellar abiotrophy
- Cerebral creatine deficiency
- Cerebroretinal microangiopathy with calcifications and cysts
- CHAI disease
- CHDI Foundation
- Chondrodysplasia, Grebe type
- Choroideremia
- Chronic enteropathy associated with SLCO2A1 gene
- Ciliopathy
- Coeliac disease
- Combined oxidative phosphorylation defect type 17
- Combined saposin deficiency
- Common variable immunodeficiency
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital fibrosis of the extraocular muscles
- Craniometaphyseal dysplasia
- Creatine transporter defect
D
- Degenerative suspensory ligament desmitis
- Dermatoosteolysis, Kirghizian type
- Desmin-related myofibrillar myopathy
- Distal hereditary motor neuropathy type V
- Distal spinal muscular atrophy type 2
- Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
- DOCK8 deficiency
- Dunnigan familial partial lipodystrophy
- Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
- Dysosteosclerosis
F
G
- Gait abnormality
- GATAD2B-associated neurodevelopmental disorder
- Genetics of GnRH deficiency conditions
- Global Genes
- Glutaminase deficiency
- Glycogen storage disease type IX
- GLYT1 encephalopathy
- Gollop-Wolfgang complex
- GOSR2-related progressive myoclonus ataxia
- Guanidinoacetate methyltransferase deficiency
H
- Haploinsufficiency of A20
- Hemoglobin D
- Hemoglobin O
- Hereditary diffuse leukoencephalopathy with spheroids
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- HFE H63D gene mutation
- Hereditary haemochromatosis
- Huntington's disease
- Hyperglycerolemia
- Hypodysfibrinogenemia
- Hypohidrotic ectodermal dysplasia
- Hypoplasminogenemia
I
- Ichthyosis-intellectual disability-dwarfism-renal impairment
- Immunodeficiency 26
- Inborn errors of steroid metabolism
- Indian Genetic Disease Database
- Infantile cerebellar retinal degeneration
- Infantile cortical hyperostosis
- Inherited thrombotic thrombocytopenic purpura
- Intellectual disability-spasticity-ectrodactyly syndrome
- Iris hypoplasia with glaucoma
- Isolated hyperCKemia
K
L
M
- Mendelian susceptibility to mycobacterial disease
- Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly lymphoedema chorioretinal dysplasia
- Microcornea, glaucoma, and absent frontal sinuses
- Microspherophakia
- Mitochondrial complex II deficiency
- Mosaic variegated aneuploidy syndrome
- Multisystem proteinopathy
- Myostatin-related muscle hypertrophy
N
O
P
R
- Rare variant (genetics)
- RAS-associated autoimmune leukoproliferative disorder
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Reparagen
- Retinal cone dystrophy 3B
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Rett syndrome
- Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Ring chromosome
- Ring chromosome 14 syndrome
- Ring chromosome 15
- Ring chromosome 18
- RNA-dominant disease
S
- Schaaf–Yang syndrome
- Sclerosteosis
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Severe achondroplasia with developmental delay and acanthosis nigricans
- Shaker (gene)
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- SLC35A1-CDG
- Small supernumerary marker chromosome
- Smith–Kingsmore syndrome
- Sorsby's fundus dystrophy
- Spastin
- SPATCCM
- Spinal muscular atrophies
- Sponastrime dysplasia
- Spondylocamptodactyly
- Spondylometaphyseal dysplasia, East-African type
- St. Helena familial genu valgum
- STAT3 GOF
- STING-associated vasculopathy with onset in infancy
- Swedish mutation
- SYNGAP1-related intellectual disability
- SYT1-associated neurodevelopmental disorder