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Disease	Synonyms	Description	Articles
alopecia-mental retardation syndrome		A syndrome that is characterized by loss of hair o..[+] A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. [-]
alopecia-mental retardation syndrome 1		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. [-]
alopecia-mental retardation syndrome 2		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. [-]
alopecia-mental retardation syndrome 3		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. [-]
alpha 1-antitrypsin deficiency	AAT deficiency;	A plasma protein metabolism disease that has_mater..[+] A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. [-]
alpha chain disease	Seligmann's disease;	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of alpha antibodies (IgA). [-]
alpha thalassemia	alpha-Thalassemia; Alpha thalassaemia;	A thalassemia involving the genes HBA1and HBA2 hem..[+] A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. [-]
alpha thalassemia-X-linked intellectual disability syndrome	alpha-thalassemia/mental retardation syndrome nond.. [+] alpha-thalassemia/mental retardation syndrome nondeletion type; ATR, nondeletion type; ATR-X syndrome; [-]	An alpha thalassemia that has_material_basis_in mu..[+] An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. [-]
alpha thalassemia-intellectual disability syndrome type 1	alpha thalassemia-intellectual disability syndrome.. [+] alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-retardation syndrome; alpha-thalassemia/mental retardation syndrome, type 1; ATR syndrome linked to chromosome 16; ATR syndrome, deletion type; alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; alpha-thalassemia/mental retardation syndrome, deletion-type; ATR-16 syndrome; [-]	An alpha thalassemia that has_material_basis_in a ..[+] An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. [-]
alpha-2-plasmin inhibitor deficiency	antiplasmin defiency; plasmin inhibitor deficiency.. [+] antiplasmin defiency; plasmin inhibitor deficiency; [-]	A hemorrhagic disease that has_material_basis_in m..[+] A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. [-]
alpha-mannosidosis	Alpha-D-mannosidosis; deficiency of alpha-mannosid.. [+] Alpha-D-mannosidosis; deficiency of alpha-mannosidase (disorder); deficiency of alpha-mannosidase; alpha-mannosidase deficiency; [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. [-]
alpha-methylacyl-CoA racemase deficiency	AMACR deficiency;	A peroxisomal disease that has_material_basis in h..[+] A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. [-]
alpha-thalassemia myelodysplasia syndrome	acquired HbH disease; acquired hemoglobin H diseas.. [+] acquired HbH disease; acquired hemoglobin H disease; alpha-thalassemia-myelodysplastic syndrome; ATMDS; [-]	A syndrome characterized by acquired alpha-thalass..[+] A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. [-]
alternating esotropia		n_a
alternating exotropia		n_a
alternating hemiplegia of childhood	AHC;	A hemiplegia characterized by recurrent episodes o..[+] A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. [-]	2 articles
alveolar echinococcosis	alveolococcosis; echinococcus multilocularis infec.. [+] alveolococcosis; echinococcus multilocularis infection; small fox tapeworm; Multilocular hydatid; [-]	An echinococcosis that is caused by the larvae of ..[+] An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. [-]
alveolar periostitis	Alveolar periostitis (disorder); Alveolitis of jaw.. [+] Alveolar periostitis (disorder); Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder); Dry tooth socket; Alveolitis of jaw; Dry socket; Alveolar periostitis; [-]	n_a
alveolar rhabdomyosarcoma	alveolar childhood rhabdomyosarcoma; Alveolar Rhab.. [+] alveolar childhood rhabdomyosarcoma; Alveolar Rhabdomyosarcoma; Alveolar rhabdomyosarcoma (disorder); Alveolar rhabdomyosarcoma (morphologic abnormality); pediatric Alveolar Rhabdomyosarcoma; Alveolar 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
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. [-]
amebiasis	amoebiasis; entamoebiasis; chronic intestinal ameb.. [+] amoebiasis; entamoebiasis; chronic intestinal amebiasis; [-]	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. [-]
amelanotic melanoma	Amelanotic melanoma (morphologic abnormality); Ame.. [+] Amelanotic melanoma (morphologic abnormality); Amelanotic melanoma; [-]	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 type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; [-]	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 hypomaturation type.. [+] AI2A3; amelogenesis imperfecta hypomaturation type IIA3; amelogenesis imperfecta 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	amelogenesis imperfecta hypomaturation type IIA5; .. [+] amelogenesis imperfecta hypomaturation type IIA5; AI2A5; 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; amelogenesis imperfecta type IB; hereditary .. [+] AI1B; amelogenesis imperfecta type IB; hereditary localized enamel hypoplasia; AIH2; autosomal dominant hypoplastic local amelogenesis imperfecta; [-]	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; autosomal recessive amelogenesis imperfecta .. [+] AI1C; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta local hypoplastic type; [-]	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 enamel hypoplasia; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in 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 and gingival .. [+] AI1G; AIGFS; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta type IG; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS; amelogenesis imperfecta hypoplastic with nephrocalcinosis; [-]	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 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 type IIA1; amelogen.. [+] AI2A1; amelogenesis imperfecta type IIA1; amelogenesis imperfecta pigmented hypomaturation type 1; [-]	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 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	ADHCAI; AI3; amelogenesis imperfecta type III; ame.. [+] ADHCAI; AI3; amelogenesis imperfecta type III; amelogenesis imperfecta hypomineralization type; 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. [-]
amelogenesis imperfecta type 4	AI4; AIHHT; amelogenesis imperfecta hypomaturation.. [+] AI4; AIHHT; amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism; [-]	An amelogenesis imperfecta which can have material..[+] An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene. [-]
amenorrhea	absence of menstruation; amenia;	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by the absence of menstruation. [-]
amino acid metabolic disorder	inborn errors of amino acid metabolism;	An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. [-]	5 articles
aminoglycoside-induced deafness	streptomycin-induced deafness; streptomycin ototox.. [+] streptomycin-induced deafness; streptomycin ototoxicity; [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
amnestic disorder	Korsakoff's psychosis or syndrome; amnesia; Amnest.. [+] Korsakoff's psychosis or syndrome; amnesia; Amnestic syndrome; [-]	A cognitive disorder where the memory is disturbed..[+] A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. [-]
amodiaquine allergy	Camoquin allergy; Flavoquine allergy;	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
amoxicillin allergy		A beta-lactam allergy that has_allergic_trigger am..[+] A beta-lactam allergy that has_allergic_trigger amoxicillin. [-]

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