Category:Genetic diseases and disorders
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Subcategories
This category has the following 11 subcategories, out of 14 total.
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Pages in category "Genetic diseases and disorders"
The following 116 pages are in this category, out of 186 total. This list may not reflect recent changes.
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G
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
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
- Multisystem proteinopathy
- Myostatin-related muscle hypertrophy
N
O
P
R
S
- 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
- 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