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Disease	Synonyms	Description	Articles
AMME complex	Alport syndrome-intellectual disability-midface hy.. [+] Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR; chromosome Xq22.3 telomeric deletion syndrome; [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]
APP-related cerebral amyloid angiopathy	Amyloidosis, Cerebroarterial, App-Related; Amyloid.. [+] Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian Variant; HCHWAD; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ARC syndrome	Arthrogryposis, renal dysfunction and cholestasis .. [+] Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis-renal dysfunction-cholestasis; [-]	A syndrome that is characterized by congenital joi..[+] A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. [-]
Aagenaes syndrome	Cholestasis-edema syndrome, Norwegian type (disord.. [+] Cholestasis-edema syndrome, Norwegian type (disorder); Cholestasis-edema syndrome, Norwegian type; [-]	A syndrome that is characterized by congenital hyp..[+] A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. [-]
Aarskog syndrome	faciodigitogenital syndrome; faciogenital dysplasi.. [+] faciodigitogenital syndrome; faciogenital dysplasia; Aarskog-Scott syndrome; [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
Abruzzo-Erickson syndrome	cleft palate-coloboma-deafness syndrome; CHARGE-li.. [+] cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome, X-linked; [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
Achard syndrome		A syndrome that involves arachnodactyly, receding ..[+] A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. [-]
Achenbach syndrome	Paroxysmal hematoma of the finger (disorder); Paro.. [+] Paroxysmal hematoma of the finger (disorder); Paroxysmal hematoma of the finger; [-]	n_a
Achilles bursitis	Achilles bursitis or tendinitis; Haglund's deformi.. [+] Achilles bursitis or tendinitis; Haglund's deformity; Haglund's disease; Capped hock; [-]	n_a
Acinetobacter infectious disease		An opportunistic bacterial infectious disease that..[+] An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. [-]
Adams-Oliver syndrome	Adams Oliver syndrome;	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. [-]
Addison's disease	Addison disease, chronic adrenal insufficiency; HY.. [+] Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL; primary adrenocortical insufficiency; primary hypoadrenalism; Addison disease; [-]	An adrenal cortical hypofunction that is character..[+] An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. [-]
Adie syndrome	Adie's pupil or syndrome; Adie's syndrome; Holmes-.. [+] Adie's pupil or syndrome; Adie's syndrome; Holmes-Adie syndrome; Adie's pupil syndrome; [-]	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. [-]
African histoplasmosis		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. [-]
African iron overload	Bantu siderosis; iron overload in Africa;	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. [-]
African tick-bite fever	Rickettsia africae spotted fever; south african ti.. [+] Rickettsia africae spotted fever; south african tick-bite fever; [-]	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. [-]
Aicardi syndrome		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. [-]
Aicardi-Goutieres syndrome	Cree encephalitis; AGS;	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. [-]
Alagille syndrome	Alagille-Watson syndrome; Arteriohepatic dysplasia.. [+] Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder); Arteriohepatic dysplasia; [-]	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. [-]
Aland Island eye disease	Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O.. [+] Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; [-]	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. [-]
Albright's hereditary osteodystrophy	Albright hereditary osteodystrophy; pseudohypopara.. [+] Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a; [-]	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. [-]
Alexander disease	Alexander's disease;	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. [-]
Alkhurma hemorrhagic fever		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. [-]
Alkuraya-Kucinskas syndrome	ALKKUCS;	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. [-]
Allan-Herndon-Dudley syndrome	ALLAN-HERNDON SYNDROME; AHDS;	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. [-]	1 articles
Alpers-Huttenlocher syndrome	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; [-]	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. [-]
Alport syndrome	Hereditary Nephritis;	A syndrome disease that is characterized by glomer..[+] A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. [-]
Alstrom syndrome		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. [-]
Alzheimer's disease	AD; Alzheimer disease, familial; Alzheimers dement.. [+] AD; Alzheimer disease, familial; Alzheimers dementia; Alzheimer disease; [-]	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. [-]	37 articles
Alzheimer's disease 1	Alzheimer's disease 1, early onset;	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. [-]
Alzheimer's disease 10	AD10; Alzheimer disease 10; Alzheimer disease fami.. [+] AD10; Alzheimer disease 10; Alzheimer disease familial 10; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. [-]
Alzheimer's disease 11	AD11; Alzheimer disease 11;	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. [-]
Alzheimer's disease 12	Alzheimer disease 12; Alzheimer disease familial 1.. [+] Alzheimer disease 12; Alzheimer disease familial 12; AD12; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. [-]
Alzheimer's disease 13	Alzheimer disease 13; AD13;	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. [-]
Alzheimer's disease 14	AD14; Alzheimer disease 14;	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. [-]
Alzheimer's disease 15	AD15; Alzheimer disease 15; Alzheimer's disease 15.. [+] AD15; Alzheimer disease 15; Alzheimer's disease 15, late onset; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. [-]
Alzheimer's disease 16	AD16;	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. [-]
Alzheimer's disease 17	AD17; Alzheimer disease 17; Alzheimer disease 17, .. [+] AD17; Alzheimer disease 17; Alzheimer disease 17, late onset; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. [-]
Alzheimer's disease 18	AD18; Alzheimer disease 18;	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. [-]
Alzheimer's disease 19	Alzheimer disease 19; Alzheimer disease 19 late on.. [+] Alzheimer disease 19; Alzheimer disease 19 late onset; AD19; [-]	An Alzheimer's disease that is characterized by as..[+] An Alzheimer's disease that is characterized by associated variants of the gene PLD3. [-]
Alzheimer's disease 2	Alzheimer disease 2, late onset; Alzheimer disease.. [+] Alzheimer disease 2, late onset; Alzheimer disease associated with APOE4; Alzheimer disease-2; AD2; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. [-]
Alzheimer's disease 3	AD3; Alzheimer disease 3; Alzheimer disease famili.. [+] AD3; Alzheimer disease 3; Alzheimer disease familial 3; Alzheimer disease 3, early onset; [-]	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. [-]
Alzheimer's disease 4	AD4; Alzheimer disease, familial4; Alzheimer disea.. [+] AD4; Alzheimer disease, familial4; Alzheimer disease 4; [-]	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. [-]
Alzheimer's disease 5	AD5; Alzheimer disease 5; Alzheimer disease, famil.. [+] AD5; Alzheimer disease 5; Alzheimer disease, familial 5; Alzheimer's disease 5, late onset; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. [-]
Alzheimer's disease 6	AD6; Alzheimer disease 6; Alzheimer disease 6, lat.. [+] AD6; Alzheimer disease 6; Alzheimer disease 6, late onset; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. [-]
Alzheimer's disease 7	AD7; Alzheimer disease 7; Alzheimer disease, famil.. [+] AD7; Alzheimer disease 7; Alzheimer disease, familial 7; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. [-]
Alzheimer's disease 8	AD8; Alzheimer disease 8; Alzheimer disease, famil.. [+] AD8; Alzheimer disease 8; Alzheimer disease, familial 8; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. [-]
Alzheimer's disease 9	AD9; Alzheimer's disease 9, late onset;	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. [-]
Ambras type hypertrichosis universalis congenita	Ambras syndrome; HTC1;	A hypertrichosis characterized by autosomal domina..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. [-]
American histoplasmosis		A histoplasmosis that results in systemic fungal i..[+] A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. [-]

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