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Disease	Synonyms	Description
alveolar periostitis	Alveolar periostitis (disorder); Alveolitis of jaw.. [+] Alveolar periostitis (disorder); Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder); Alveolitis of jaw; Dry socket; Dry tooth socket; [-]	n_a
alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma; Alveolar rhabdomyosarco.. [+] Alveolar Rhabdomyosarcoma; Alveolar rhabdomyosarcoma (disorder); Alveolar rhabdomyosarcoma (morphologic abnormality); pediatric Alveolar Rhabdomyosarcoma; alveolar childhood rhabdomyosarcoma; [-]	n_a
alveolar soft part sarcoma	adult alveolar soft part sarcoma; Alveolar Soft Pa.. [+] adult alveolar soft part sarcoma; Alveolar Soft Part sarcoma; childhood alveolar soft part sarcoma; pediatric Alveolar soft Part sarcoma; [-]	A soft tissue cancer that is a slow growing tumor ..[+] A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. [-]
alveoli adenoma	Alveolar adenoma (morphologic abnormality); adenom.. [+] Alveolar adenoma (morphologic abnormality); adenoma of alveoli; adenoma of the alveoli; Alveolar adenoma; [-]	n_a
Alzheimer's disease	AD; Alzheimer disease, familial; Alzheimer disease.. [+] AD; Alzheimer disease, familial; Alzheimer disease; 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 familial 10; Alzheimer dis.. [+] AD10; Alzheimer disease familial 10; Alzheimer disease 10; Alzheimer's disease 10, early 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 7q36. [-]
Alzheimer's disease 11	AD11; Alzheimer disease 11; Alzheimer's disease 11.. [+] AD11; Alzheimer disease 11; Alzheimer's disease 11, 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 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; Alzheimer's disease 14.. [+] AD14; Alzheimer disease 14; Alzheimer's disease 14, 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 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; 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; Alzheimer's disease 18.. [+] AD18; Alzheimer disease 18; Alzheimer's disease 18, late onset; [-]	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 late onset; Alzheimer d.. [+] AD19; Alzheimer disease 19 late onset; Alzheimer disease 19; [-]	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, familial4; Alzheimer disea.. [+] AD4; Alzheimer disease, familial4; Alzheimer disease 4; Alzheimer's disease 4, early onset; [-]	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	Alzheimer disease 5; Alzheimer disease, familial 5.. [+] Alzheimer disease 5; Alzheimer disease, familial 5; AD5; 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; Alzheimer's disease 8, 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 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. [-]
amblyopia	lazy eye;	An eye disease that is characterized by poor visio..[+] An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. [-]
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. [-]
amebiasis	amoebiasis; chronic intestinal amebiasis; entamoeb.. [+] amoebiasis; chronic intestinal amebiasis; entamoebiasis; [-]	A parasitic protozoa infectious disease that invol..[+] A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. [-]
AMED syndrome	AMEDS;	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. [-]
amelanotic melanoma	Amelanotic melanoma; Amelanotic melanoma (morpholo.. [+] Amelanotic melanoma; Amelanotic melanoma (morphologic abnormality); [-]	n_a
ameloblastoma		A cell type benign neoplasm that has_material_basi..[+] A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. [-]
amelogenesis imperfecta		A dental enamel hypoplasia characterized by abnorm..[+] A dental enamel hypoplasia characterized by abnormal enamel formation. [-]
amelogenesis imperfecta hypomaturation type 2A2	AI2A2; amelogenesis imperfecta hypomaturation type.. [+] AI2A2; amelogenesis imperfecta hypomaturation type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta type IIA2; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). [-]
amelogenesis imperfecta hypomaturation type 2A3	AI2A3; amelogenesis imperfecta type IIA3; amelogen.. [+] AI2A3; amelogenesis imperfecta type IIA3; amelogenesis imperfecta hypomaturation type IIA3; [-]	An amelogenesis imperfecta caused by homozygous mu..[+] An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. [-]
amelogenesis imperfecta hypomaturation type 2A4	AI2A4; amelogenesis imperfecta hypomaturation type.. [+] AI2A4; amelogenesis imperfecta hypomaturation type IIA4; amelogenesis imperfecta type IIA4; [-]	An amelogenesis imperfecta caused by homozygous mu..[+] An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. [-]
amelogenesis imperfecta hypomaturation type 2A5	AI2A5; amelogenesis imperfecta hypomaturation type.. [+] AI2A5; amelogenesis imperfecta hypomaturation type IIA5; amelogenesis imperfecta type IIA5; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. [-]
amelogenesis imperfecta type 1A	AI1A; amelogenesis imperfecta hypoplastic type IA;.. [+] AI1A; amelogenesis imperfecta hypoplastic type IA; amelogenesis imperfecta type IA; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. [-]
amelogenesis imperfecta type 1B	AI1B; AIH2; amelogenesis imperfecta type IB; autos.. [+] AI1B; AIH2; amelogenesis imperfecta type IB; autosomal dominant hypoplastic local amelogenesis imperfecta; hereditary localized enamel hypoplasia; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. [-]
amelogenesis imperfecta type 1C	AI1C; amelogenesis imperfecta type IC; autosomal r.. [+] AI1C; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta local hypoplastic type; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). [-]
amelogenesis imperfecta type 1E	AIH1; amelogenesis imperfecta hypomaturationtype w.. [+] AIH1; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type IE; X-linked amelogenesis imperfecta 1; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked enamel hypoplasia; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). [-]
amelogenesis imperfecta type 1F	AI1F; amelogenesis imperfecta hypoplastic type IF;.. [+] AI1F; amelogenesis imperfecta hypoplastic type IF; amelogenesis imperfecta type IF; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. [-]
amelogenesis imperfecta type 1G	AI1G; AIGFS; amelogenesis imperfecta hypoplastic w.. [+] AI1G; AIGFS; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta type IG; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS; amelogenesis imperfecta and gingival fibromatosis syndrome; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. [-]
amelogenesis imperfecta type 1H	AI1H; amelogenesis imperfecta type IH;	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. [-]
amelogenesis imperfecta type 1J	Amelogenesis imperfecta, type IJ;	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. [-]
amelogenesis imperfecta type 1K		An amelogenesis imperfecta characterized by hypopl..[+] An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. [-]
amelogenesis imperfecta type 2A1	AI2A1; amelogenesis imperfecta pigmented hypomatur.. [+] AI2A1; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type IIA1; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. [-]
amelogenesis imperfecta type 2A6	Amelogenesis imperfecta, hypomaturation type, IIA6.. [+] Amelogenesis imperfecta, hypomaturation type, IIA6; [-]	An amelogenesis imperfecta that is characterized b..[+] An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. [-]
amelogenesis imperfecta type 3	AI3; hypocalcified amelogenesis imperfecta;	An amelogenesis imperfecta characterized by soft e..[+] An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. [-]
amelogenesis imperfecta type 3A	AI3; ADHCAI; amelogenesis imperfecta hypomineraliz.. [+] AI3; ADHCAI; amelogenesis imperfecta hypomineralization type; amelogenesis imperfecta type III; autosomal dominant amelogenesis imperfecta hypocalcification type; [-]	An amelogenesis imperfecta type 3 that has_materia..[+] An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. [-]
amelogenesis imperfecta type 3B		An amelogenesis imperfecta type 3 that is characte..[+] An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. [-]
amelogenesis imperfecta type 3C	AI3C; amelogenesis imperfecta type IIIC; autosomal.. [+] AI3C; amelogenesis imperfecta type IIIC; autosomal recessive amelogenesis imperfecta hypocalcification type; [-]	An amelogenesis imperfecta type 3 that is characte..[+] An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. [-]

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