| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Adams-Oliver syndrome
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Adams Oliver syndrome;
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A syndrome characterized by defects of the scalp (.. [+]A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
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Addison's disease
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Addison disease, chronic adrenal insufficiency; HY..
[+]Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL; primary adrenocortical insufficiency; primary hypoadrenalism; Addison disease;
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An adrenal cortical hypofunction that is character.. [+]An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
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Adie syndrome
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Adie's pupil or syndrome; Adie's syndrome; Holmes-..
[+]Adie's pupil or syndrome; Adie's syndrome; Holmes-Adie syndrome; Adie's pupil syndrome;
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A syndrome that is a neurological disorder affecti.. [+]A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
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African histoplasmosis
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A histoplasmosis that results in systemic fungal i.. [+]A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions.
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African iron overload
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Bantu siderosis; iron overload in Africa;
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A hemochromatosis characterized by a predispositio.. [+]A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
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African tick-bite fever
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Rickettsia africae spotted fever; south african ti..
[+]Rickettsia africae spotted fever; south african tick-bite fever;
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
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Aicardi syndrome
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A syndrome that is characterized by absence or und.. [+]A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
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Aicardi-Goutieres syndrome
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Cree encephalitis; AGS;
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A syndrome that is a genetically heterogeneous enc.. [+]A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
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Alagille syndrome
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Alagille-Watson syndrome; Arteriohepatic dysplasia..
[+]Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder); Arteriohepatic dysplasia;
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A liver disease that is characterized by an accumu.. [+]A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
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Aland Island eye disease
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Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O..
[+]Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM;
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An eye disease characterized by fundus hypopigment.. [+]An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
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Albright's hereditary osteodystrophy
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Albright hereditary osteodystrophy; pseudohypopara..
[+]Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a;
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An pseudohypoparathyroidism that has_material_basi.. [+]An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.
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Alexander disease
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Alexander's disease;
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A leukodystrophy that is characterized by the dest.. [+]A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
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Alkhurma hemorrhagic fever
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A viral infectious disease that is a hemorrhagic f.. [+]A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever.
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Alkuraya-Kucinskas syndrome
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ALKKUCS;
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A syndrome characterized by arthrogryposis, cerebr.. [+]A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27.
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Allan-Herndon-Dudley syndrome
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ALLAN-HERNDON SYNDROME; AHDS;
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A syndrome that has_material_basis_in mutation at .. [+]A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
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1 articles
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Alpers-Huttenlocher syndrome
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Alpers disease; Alpers progressive infantile polio..
[+]Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; Alper's syndrome;
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A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
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Alport syndrome
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Hereditary Nephritis;
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A syndrome disease that is characterized by glomer.. [+]A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
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Alstrom syndrome
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A syndrome that is characterized by multiorgan dys.. [+]A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
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Alzheimer's disease
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AD; Alzheimer disease, familial; Alzheimers dement..
[+]AD; Alzheimer disease, familial; Alzheimers dementia; Alzheimer disease;
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A tauopathy that is characterized by memory lapses.. [+]A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
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37 articles
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Alzheimer's disease 1
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Alzheimer's disease 1, early onset;
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An Alzheimer's disease that has_material_basis_in .. [+]An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.
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