SettingsGenetic disorders by system
Amelogenesis imperfecta
Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth.
Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth.
Asperger syndrome
Asperger syndrome (AS), also known as Asperger's syndrome or Asperger disorder, is an autism spectrum disorder (ASD) that is characterized by significant difficulties in social inter...
Asperger syndrome (AS), also known as Asperger's syndrome or Asperger disorder, is an autism spectrum disorder (ASD) that is characterized by significant difficulties in social inter...
CD25 deficiency
CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha gene.
CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha gene.
Coeliac disease
Coeliac disease is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward.
Coeliac disease is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward.
Color blindness
Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy is a rare autosomal dominant skin condition, characterized by an extreme paucity of fat in the subcutaneous tissues.
Congenital generalized lipodystrophy is a rare autosomal dominant skin condition, characterized by an extreme paucity of fat in the subcutaneous tissues.
Congenital myopathy
Congenital myopathy is a term for any muscle disorder present at birth.
Congenital myopathy is a term for any muscle disorder present at birth.
Early-onset Alzheimer's disease
Early-onset Alzheimer's disease, also called early-onset Alzheimer's, or early-onset AD, is the term used for cases of Alzheimer's disease diagnosed before the age of 65.
Early-onset Alzheimer's disease, also called early-onset Alzheimer's, or early-onset AD, is the term used for cases of Alzheimer's disease diagnosed before the age of 65.
Familial thoracic aortic aneurysm
Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta) is an autosomal dominant disorder of large arteries.
Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta) is an autosomal dominant disorder of large arteries.
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathies are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication.
Hereditary motor and sensory neuropathies are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication.
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
Hyper IgM syndrome
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of som...
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of som...
Microphthalmia
Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental disorder of the eye that literally means small eye (micros = small; ophtha...
Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental disorder of the eye that literally means small eye (micros = small; ophtha...
Muscular dystrophy
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion.
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion.
Osteopetrosis
Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming dense...
Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming dense...
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by impaired development of various parts of the brain.
Pontocerebellar hypoplasia is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by impaired development of various parts of the brain.
Reticular dysgenesis
Reticular dysgenesis is a genetic disorder of the bone marrow resulting in complete absence of granulocytes and decreased number of abnormal lymphocytes.
Reticular dysgenesis is a genetic disorder of the bone marrow resulting in complete absence of granulocytes and decreased number of abnormal lymphocytes.
Severe combined immunodeficiency
Severe combined immunodeficiency, is a genetic disorder in which both "arms" of the adaptive immune system are impaired due to a defect in one of several possible genes.
Severe combined immunodeficiency, is a genetic disorder in which both "arms" of the adaptive immune system are impaired due to a defect in one of several possible genes.
Severe combined immunodeficiency (non-human)
Severe Combined Immunodeficiency (SCID) is a severe immunodeficiency genetic disorder that is characterized by the complete inability of the adaptive immune system to mount, coordinate, and sust...
Severe Combined Immunodeficiency (SCID) is a severe immunodeficiency genetic disorder that is characterized by the complete inability of the adaptive immune system to mount, coordinate, and sust...
Sideroblastic anemia
Sideroblastic anemia or sideroachrestic anemia is a disease in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells.
Sideroblastic anemia or sideroachrestic anemia is a disease in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells.
Spinal muscular atrophies
Spinal Muscular Atrophies are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to degenerat...
Spinal Muscular Atrophies are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to degenerat...
Spinal muscular atrophy
Spinal muscular atrophy is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting ...
Spinal muscular atrophy is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting ...
Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance is a rare neuromuscular disorder of infants caused by a genetic mutation in the DYNC1H1 gene.
Spinal muscular atrophy with lower extremity predominance is a rare neuromuscular disorder of infants caused by a genetic mutation in the DYNC1H1 gene.
Spinal muscular atrophy with pontocerebellar hypoplasia
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) or pontocerebellar hypoplasia type 1 (PCH1) - a rare infantile disorder resulting from the loss of anterior horn cells in ...
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) or pontocerebellar hypoplasia type 1 (PCH1) - a rare infantile disorder resulting from the loss of anterior horn cells in ...
Spondylo-meta-epiphyseal dysplasia
Spondylo-meta-epiphyseal dysplasia is a rare autosomal-recessive disease which causes skeletal disorders.
Spondylo-meta-epiphyseal dysplasia is a rare autosomal-recessive disease which causes skeletal disorders.
Spondylocostal dysostosis
Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder.
Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder.
Tourette syndrome
Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tics and at least one vocal tic.
Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tics and at least one vocal tic.