SettingsGenetic disorders
18p-
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18.
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18.
ACDC (medicine)
Arterial calcification due to deficiency of CD73, a rare genetic disorder that is explained for the first time in the Feb.
Arterial calcification due to deficiency of CD73, a rare genetic disorder that is explained for the first time in the Feb.
Ackerman syndrome
Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional...
Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional...
Alpha-thalassemia mental retardation syndrome
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutate...
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutate...
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, which is named for the transient episodes, often referred to as attacks, of hemiplegia from...
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, which is named for the transient episodes, often referred to as attacks, of hemiplegia from...
Bamforth-Lazarus syndrome
Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.
Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.
Bamforth–Lazarus syndrome
Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.
Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.
Birt-Hogg-Dubé syndrome
Birt–Hogg–Dubé syndrome (BHD) is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles.
Birt–Hogg–Dubé syndrome (BHD) is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles.
Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome (BHD) is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles.
Birt–Hogg–Dubé syndrome (BHD) is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles.
Brody myopathy
Brody myopathy is a genetic disease.
Brody myopathy is a genetic disease.
Cerebellar abiotrophy
Cerebellar abiotrophy (CA), also referred to as the cerebellar cortical abiotrophy (CCA), which is a genetic neurological disease in animals best known to affect certain breeds of horses...
Cerebellar abiotrophy (CA), also referred to as the cerebellar cortical abiotrophy (CCA), which is a genetic neurological disease in animals best known to affect certain breeds of horses...
Cerebroretinal microangiopathy with calcifications and cysts
Cerebroretinal microangiopathy with calcifications and cysts is a rare genetic disorder, which affects multiple organs.
Cerebroretinal microangiopathy with calcifications and cysts is a rare genetic disorder, which affects multiple organs.
CHDI Foundation
The CHDI Foundation, Inc., is a US non-profit biomedical foundation that aims to "rapidly discover and develop drugs that delay or slow treatments for Huntington's disease", a neurodegenerative ...
The CHDI Foundation, Inc., is a US non-profit biomedical foundation that aims to "rapidly discover and develop drugs that delay or slow treatments for Huntington's disease", a neurodegenerative ...
Choroideremia
Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye.
Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye.
Complex Vertebral Malformation
Complex Vertebral Malformation, or CVM, is a lethal hereditary syndrome found in Holstein cattle.
Complex Vertebral Malformation, or CVM, is a lethal hereditary syndrome found in Holstein cattle.
Complex vertebral malformation
Complex Vertebral Malformation, or CVM, is a lethal hereditary syndrome found in Holstein cattle.
Complex Vertebral Malformation, or CVM, is a lethal hereditary syndrome found in Holstein cattle.
De Barsy syndrome
De Barsy Syndrome is a rare autosomal recessive genetic disorder.
De Barsy Syndrome is a rare autosomal recessive genetic disorder.
Degenerative suspensory ligament desmitis
Degenerative Suspensory Ligament Desmitis commonly called DSLD, also known as Equine Systemic Proteoglycan Accumulation is a systemic disease of the connective tissue of the equine.
Degenerative Suspensory Ligament Desmitis commonly called DSLD, also known as Equine Systemic Proteoglycan Accumulation is a systemic disease of the connective tissue of the equine.
Dejerine-Sottas disease
Dejerine–Sottas disease, also Dejerine–Sottas syndrome or Dejerine–Sottas neuropathy is an autosomal dominant or autosomal recessive neuropathy, which causes damage to the peripheral...
Dejerine–Sottas disease, also Dejerine–Sottas syndrome or Dejerine–Sottas neuropathy is an autosomal dominant or autosomal recessive neuropathy, which causes damage to the peripheral...
Dentatorubral-pallidoluysian atrophy
Dentatorubral-pallidoluysian atrophy is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.
Dentatorubral-pallidoluysian atrophy is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.
Desmin-related myofibrillar myopathy
Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein ...
Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein ...
Distal 18q-
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
Dunnigan familial partial lipodystrophy
Dunnigan-type familial partial lipodystrophy, abbreviated as, is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region.
Dunnigan-type familial partial lipodystrophy, abbreviated as, is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region.
Familial hyperestrogenism
Familial hyperestrogenism, also defined as aromatase excess syndrome as well as hereditary or famlilial gynecomastia, is a rare genetic and endocrine syndrome of unknown etiolo...
Familial hyperestrogenism, also defined as aromatase excess syndrome as well as hereditary or famlilial gynecomastia, is a rare genetic and endocrine syndrome of unknown etiolo...
Fragile Mental Retardation 2
Fragile Mental Retardation 2 is a gene, located on the human X chromosome.
Fragile Mental Retardation 2 is a gene, located on the human X chromosome.
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth.
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth.
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary diffuse leukoencephalopathy with spheroids is a rare autosomal dominant disorder characterized by cerebral white matter degeneration with axonal spheroids leading to progressive cogni...
Hereditary diffuse leukoencephalopathy with spheroids is a rare autosomal dominant disorder characterized by cerebral white matter degeneration with axonal spheroids leading to progressive cogni...
HFE hereditary haemochromatosis
Haemochromatosis type 1 is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores.
Haemochromatosis type 1 is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores.
HFE hereditary hemochromatosis
Hemochromatosis type 1 (or HFE hereditary hemochromatosis, or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive absorption of dietary iron r...
Hemochromatosis type 1 (or HFE hereditary hemochromatosis, or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive absorption of dietary iron r...
Huntington's disease
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.
Huntington's disease clinical research
There are different therapies under investigation for Huntington's disease.
There are different therapies under investigation for Huntington's disease.
Indian Genetic Disease Database (IGDD)
Indian Genetic Disease Database or IGDD is the first patient based "genetic disease" database of India.
Indian Genetic Disease Database or IGDD is the first patient based "genetic disease" database of India.
Infantile cortical hyperostosis
Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability.
Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability.
Inherited disorders of trafficking
Inherited disorders of trafficking are a family of disorders that involve vesicular delivery of proteins.
Inherited disorders of trafficking are a family of disorders that involve vesicular delivery of proteins.
Keratosis pilaris
Keratosis pilaris (KP, also follicular keratosis or chicken skin) is a common, autosomal dominant, genetic follicular condition that is manifested by the appearance of rough sl...
Keratosis pilaris (KP, also follicular keratosis or chicken skin) is a common, autosomal dominant, genetic follicular condition that is manifested by the appearance of rough sl...
Lipomatosis
Lipomatosis is a hereditary condition where multiple lipomas are present on the body.
Lipomatosis is a hereditary condition where multiple lipomas are present on the body.
McLeod syndrome
McLeod syndrome is a genetic disorder that may affect the blood, brain, peripheral nerves, muscle and heart.
McLeod syndrome is a genetic disorder that may affect the blood, brain, peripheral nerves, muscle and heart.
Microcephaly lymphoedema chorioretinal dysplasia
Microcephaly lymphoedema chorioretinal dysplasia is a genetic condition associated with •Small head •Puffy feet •Eye problems In 1992, Feingold and Bartoshesky described two unrelated children ...
Microcephaly lymphoedema chorioretinal dysplasia is a genetic condition associated with •Small head •Puffy feet •Eye problems In 1992, Feingold and Bartoshesky described two unrelated children ...
Neuroacanthocytosis
Neuroacanthocytosis is a term that refers to a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated red blood cells.
Neuroacanthocytosis is a term that refers to a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated red blood cells.
Neurocristopathy
Neurocristopathy is a term coined by Robert P. Bolande in 1974, referring to a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly de...
Neurocristopathy is a term coined by Robert P. Bolande in 1974, referring to a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly de...
Norrie disease
Norrie Disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.
Norrie Disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.
Odontoma dysphagia syndrome
Odontoma dysphagia syndrome (Bader syndrome) is a rare syndrome (justinian ii
Odontoma dysphagia syndrome (Bader syndrome) is a rare syndrome (justinian ii
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis".
Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis".
Peroxisomal disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.
Plum syndrome
Plum syndrome is a very rare genetic disorder.
Plum syndrome is a very rare genetic disorder.
Primordial dwarfism
Primordial dwarfism is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth.
Primordial dwarfism is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth.
Primrose syndrome
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, lear...
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, lear...
Ring 18
Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by the formation of a ring-shaped chromosome.
Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by the formation of a ring-shaped chromosome.
Ring chromosome 14 syndrome
Ring chromosome 14 syndrome is a very rare human chromosome abnormality.
Ring chromosome 14 syndrome is a very rare human chromosome abnormality.
Sertoli cell-only syndrome
Sertoli cell-only syndrome is a disorder characterized by male sterility without sexual abnormality.
Sertoli cell-only syndrome is a disorder characterized by male sterility without sexual abnormality.
Shaker gene
The Shaker (Sh) gene, when mutated, causes a variety of atypical behaviors in the fruit fly, Drosophila melanogaster.
The Shaker (Sh) gene, when mutated, causes a variety of atypical behaviors in the fruit fly, Drosophila melanogaster.
Stimmler syndrome
Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al.
Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al.
Teunissen-Cremers syndrome
Teunissen-Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes.
Teunissen-Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes.
Torsion dystonia
Torsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions.
Torsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions.
Yim Ebbin syndrome
Yim Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.
Yim Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.