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 183 pages are in this category, out of 186 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
- 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
- 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
- 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
- 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
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