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Disease	Synonyms	Description
Alport syndrome	Hereditary Nephritis;	A monogenic disease that is characterized by glome..[+] A monogenic 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; Alzheimer disease, familial.. [+] AD; Alzheimer disease; Alzheimer disease, familial; Alzheimers dementia; [-]	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. [-]
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	AD12; Alzheimer disease 12; Alzheimer disease fami.. [+] AD12; Alzheimer disease 12; Alzheimer disease familial 12; [-]	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	AD13; Alzheimer disease 13; Alzheimer's disease 13.. [+] AD13; Alzheimer disease 13; Alzheimer's disease 13, 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 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;	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; Alzheimer's disease 16, late onset;	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	AD19; Alzheimer disease 19; Alzheimer disease 19 l.. [+] AD19; Alzheimer disease 19; Alzheimer disease 19 late onset; [-]	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	AD2; Alzheimer disease 2, late onset; Alzheimer di.. [+] AD2; Alzheimer disease 2, late onset; Alzheimer disease associated with APOE4; Alzheimer disease-2; [-]	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 3, ear.. [+] AD3; Alzheimer disease 3; Alzheimer disease 3, early onset; Alzheimer disease familial 3; [-]	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 4; Alzheimer disease, famil.. [+] AD4; Alzheimer disease 4; Alzheimer disease, familial4; [-]	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; [-]	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. [-]
Andersen-Tawil syndrome	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; And.. [+] ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome ; ATS; Long QT syndrome 7; LQT7; Potassium-Sensitive Cardiodysrhythmic Type; [-]	A long QT syndrome that has_material_basis_in auto..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]
Angelman syndrome	happy puppet syndrome; puppetlike syndrome;	n_a
Angelucci's syndrome	acute atopic conjunctivitis; Angelucci syndrome;	n_a
Antley-Bixler syndrome	trapezoidocephaly-synostosis syndrome;	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. [-]
Arenaviridae infectious disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
Argyll Robertson pupil	Argyll Robertson phenomenon or pupil, nonsyphiliti.. [+] Argyll Robertson phenomenon or pupil, nonsyphilitic; Argyll Robertson pupil, atypical; Atypical Argyll-Robertson pupil; [-]	An abnormal pupillary function characterized by a ..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; men.. [+] Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss.. [+] ARTS; fatal X-linked ataxia with deafness and loss of vision; Lethal ataxia with deafness and optic atrophy; MRXS18; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
Askin's tumor	Askin tumor;	n_a
Asperger syndrome		An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]
Astrakhan spotted fever		A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
Athabaskan brainstem dysgenesis syndrome	NAVAJO BRAINSTEM SYNDROME;	A brain disease that is characterized by brainstem..[+] A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [-]
Atlantic cod allergy	Gadus morhua fish allergy;	A fish allergy triggered by Gadus morhua.
Atlantic salmon allergy	Salmo salar fish allergy;	A fish allergy triggered by Salmo salar.
Axenfeld-Rieger syndrome	Anomaly, Rieger's; Axenfeld syndrome ; Hagedoom sy.. [+] Anomaly, Rieger's; Axenfeld syndrome ; Hagedoom syndrome; RGS - Rieger syndrome; Rieger's anomaly; [-]	An autosomal dominant disease characterized by abn..[+] An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]
Axenfeld-Rieger syndrome type 1	RIEG1; Rieger syndrome type 1;	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [-]
Axenfeld-Rieger syndrome type 2	RIEG2; Rieger syndrome type 2;	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. [-]
Axenfeld-Rieger syndrome type 3	anterior chamber cleavage syndrome; anterior segme.. [+] anterior chamber cleavage syndrome; anterior segment mesenchymal dysgenesis; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; RIEG3; Rieger syndrome type 3; [-]	An Axenfeld-Rieger syndrome that has_material_basi..[+] An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. [-]
B cell and dendritic cell deficiency		A combined immunodeficiency characterized by impai..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. [-]
B cell deficiency	B cell (antibody) deficiencies; Immunoglobulin hea.. [+] B cell (antibody) deficiencies; Immunoglobulin heavy chain deficiency (disorder); immunoglobulin heavy chain deletion; [-]	A primary immunnodeficiency disease that is caused..[+] A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. [-]
B-cell adult acute lymphocytic leukemia	adult B acute lymphoblastic leukemia; adult b-cell.. [+] adult B acute lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult b-cell lymphocytic leukemia; adult B-lymphoblastic leukemia; [-]	n_a
B-cell childhood acute lymphoblastic leukemia		A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis in B-cells. [-]
B-cell lymphoma	B-cell lymphocytic neoplasm;	A non-Hodgkin lymphoma that has_material_basis_in ..[+] A non-Hodgkin lymphoma that has_material_basis_in B cells. [-]
B-lymphoblastic leukemia/lymphoma	B lymphoblastic leukemia/lymphoma; B-ALL; precurso.. [+] B lymphoblastic leukemia/lymphoma; B-ALL; precursor B lymphoblastic lymphoma/leukemia; [-]	A B-cell acute lymphoblastic leukemia that is char..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
B-lymphoblastic leukemia/lymphoma MLL rearranged	B lymphoblastic leukemia/lymphoma with t(v;11q23);.. [+] B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged; B-ALL KMT2A rearranged; B-lymphoblastic leukemia/lymphoma KMT2A rearranged; B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged; [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. [-]

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