Category:Genetic diseases and disorders
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Subcategories
This category has the following 14 subcategories, out of 14 total.
- Genetic disorders by mechanism (10 C, 3 P)
- Genetic disorders by system (8 C, 22 P)
G
- Genetic animal diseases (1 C, 5 P)
- Genetic anomalies (1 C, 22 P)
- Genetic disorders with no OMIM (55 P)
I
P
- People with genetic disorders (11 C)
- Progeroid syndromes (1 C, 14 P)
S
- Genetic syndromes (2 C, 164 P)
Σ
- Genetic disorder stubs (155 P)
Pages in category "Genetic diseases and disorders"
The following 161 pages are in this category, out of 161 total. This list may not reflect recent changes.
A
- ACDC (medicine)
- Acrofrontofacionasal dysostosis
- Acromesomelic dysplasia
- Acyl-CoA oxidase deficiency
- Adenosine deaminase 2 deficiency
- AFF2
- Age of onset
- Alternating hemiplegia
- Alternating hemiplegia of childhood
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- 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
C
- CACNA1C-related disorders
- CDKL5 deficiency disorder
- Cerebellar abiotrophy
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- 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
- Common variable immunodeficiency
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- 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
F
G
H
- Haploinsufficiency of A20
- 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
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
- 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