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Disease	Synonyms	Description
alpha thalassemia-X-linked intellectual disability syndrome	ATR, nondeletion type; ATR-X syndrome; alpha-thala.. [+] ATR-X syndrome; ATR, nondeletion type; alpha-thalassemia/mental retardation syndrome nondeletion type [-]	An alpha thalassemia that has_material_basis_in mu..[+] An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. [-]
autosomal dominant Alport syndrome		An Alport syndrome that has_material_basis_in hete..[+] An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. [-]
autosomal recessive Alport syndrome		An Alport syndrome that has_material_basis_in homo..[+] An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. [-]
Alzheimer's disease 2	Alzheimer disease-2; AD2; Alzheimer disease associ.. [+] AD2; Alzheimer disease-2; Alzheimer disease associated with APOE4; Alzheimer disease 2, late onset [-]	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 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 5	Alzheimer's disease 5, late onset; Alzheimer disea.. [+] Alzheimer's disease 5, late onset; Alzheimer disease, familial 5; Alzheimer disease 5; AD5 [-]	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	Alzheimer disease 6, late onset; Alzheimer disease.. [+] Alzheimer disease 6, late onset; Alzheimer disease 6; AD6 [-]	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	Alzheimer disease, familial 7; Alzheimer disease 7.. [+] Alzheimer disease, familial 7; Alzheimer disease 7; AD7 [-]	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 4	Alzheimer disease, familial4; Alzheimer disease 4; .. [+] Alzheimer disease 4; Alzheimer disease, familial4; AD4 [-]	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 8	Alzheimer disease, familial 8; Alzheimer disease 8.. [+] Alzheimer disease, familial 8; Alzheimer disease 8; AD8 [-]	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 3	Alzheimer disease 3, early onset; Alzheimer diseas.. [+] Alzheimer disease 3, early onset; Alzheimer disease familial 3; Alzheimer disease 3; AD3 [-]	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 10	Alzheimer disease familial 10; Alzheimer disease 1.. [+] Alzheimer disease familial 10; Alzheimer disease 10; AD10 [-]	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	Alzheimer disease 11; AD11	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 familial 12; AD12; Alzheimer dis.. [+] AD12; Alzheimer disease familial 12; Alzheimer disease 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	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	Alzheimer disease 14; AD14	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	Alzheimer's disease 15, late onset; Alzheimer dise.. [+] Alzheimer's disease 15, late onset; Alzheimer disease 15; AD15 [-]	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 17	Alzheimer disease 17, late onset; Alzheimer diseas.. [+] Alzheimer disease 17, late onset; Alzheimer disease 17; AD17 [-]	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	Alzheimer disease 18; AD18	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 late onset; AD19; 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. [-]
amelogenesis imperfecta type 1B	autosomal dominant hypoplastic local amelogenesis .. [+] autosomal dominant hypoplastic local amelogenesis imperfecta; AIH2; amelogenesis imperfecta type IB; AI1B; 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 4	amelogenesis imperfecta hypomaturation-hypoplastic.. [+] amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism; AIHHT; AI4 [-]	An amelogenesis imperfecta which can have material..[+] An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene. [-]
amelogenesis imperfecta type 1A	amelogenesis imperfecta type IA; amelogenesis impe.. [+] amelogenesis imperfecta type IA; amelogenesis imperfecta hypoplastic type IA; AI1A [-]	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 3A	autosomal dominant amelogenesis imperfecta hypocal.. [+] autosomal dominant amelogenesis imperfecta hypocalcification type; amelogenesis imperfecta hypomineralization type; amelogenesis imperfecta type III; AI3; ADHCAI [-]	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 1C	autosomal recessive amelogenesis imperfecta local .. [+] autosomal recessive amelogenesis imperfecta local hypoplastic type; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; AI1C [-]	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 2A1	amelogenesis imperfecta pigmented hypomaturation t.. [+] amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type IIA1; AI2A1 [-]	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 1E	amelogenesis imperfecta type IE; amelogenesis impe.. [+] amelogenesis imperfecta type IE; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; AIH1; 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 hypomaturation type 2A2	amelogenesis imperfecta pigmented hypomaturation t.. [+] amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta type IIA2; amelogenesis imperfecta hypomaturation type IIA2; AI2A2 [-]	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	amelogenesis imperfecta type IIA3; amelogenesis im.. [+] amelogenesis imperfecta type IIA3; amelogenesis imperfecta hypomaturation type IIA3; AI2A3 [-]	An amelogenesis imperfecta caused by homozygous mu..[+] An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. [-]
amelogenesis imperfecta hypomaturation type 2A4	amelogenesis imperfecta type IIA4; amelogenesis im.. [+] amelogenesis imperfecta type IIA4; amelogenesis imperfecta hypomaturation type IIA4; AI2A4 [-]	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 type IIA5; amelogen.. [+] amelogenesis imperfecta type IIA5; AI2A5; amelogenesis imperfecta hypomaturation 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 1H	amelogenesis imperfecta type IH; AI1H	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 1F	amelogenesis imperfecta type IF; amelogenesis impe.. [+] amelogenesis imperfecta type IF; amelogenesis imperfecta hypoplastic type IF; AI1F [-]	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	amelogenesis imperfecta hypoplastic with nephrocal.. [+] amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta type IG; amelogenesis imperfecta and gingival fibromatosis syndrome; AIGFS; AI1G; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS [-]	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. [-]
arrhythmogenic right ventricular dysplasia 1	ARVC1; ARVD1; arrhythmogenic right ventricular car.. [+] ARVD1; ARVC1; arrhythmogenic right ventricular cardiomyopathy 1; familial arrhythmogenic right ventricular dysplasia 1 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24. [-]
arrhythmogenic right ventricular dysplasia 3	ARVC3; ARVD3; arrhythmogenic right ventricular car.. [+] ARVD3; ARVC3; arrhythmogenic right ventricular cardiomyopathy 3; familial arrhythmogenic right ventricular dysplasia 3 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. [-]
arrhythmogenic right ventricular dysplasia 4	ARVC4; ARVD4; arrhythmogenic right ventricular car.. [+] ARVD4; ARVC4; arrhythmogenic right ventricular cardiomyopathy 4; fanilial arrhythmogenic right ventricular dysplasia 4; familial arrhythmogenic right ventricular dysplasia 4 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. [-]
arrhythmogenic right ventricular dysplasia 5	ARVD5; arrhythmogenic right ventricular cardiomyop.. [+] ARVD5; arrhythmogenic right ventricular cardiomyopathy 5; ARVC5; familial arrhythmogenic right ventricular dysplasia 5 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. [-]
arrhythmogenic right ventricular dysplasia 6	ARVD6; ARVC6; arrhythmogenic right ventricular car.. [+] ARVC6; ARVD6; arrhythmogenic right ventricular cardiomyopathy 6; familial arrhythmogenic right ventricular dysplasia 6 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. [-]
arrhythmogenic right ventricular dysplasia 8	ARVD8; ARVC8; arrhythmogenic right ventricular car.. [+] ARVC8; ARVD8; arrhythmogenic right ventricular cardiomyopathy 8; familial arrhythmogenic right ventricular dysplasia 8 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. [-]
arrhythmogenic right ventricular dysplasia 9	ARVD9; arrhythmogenic right ventricular cardiomyop.. [+] ARVD9; arrhythmogenic right ventricular cardiomyopathy 9; ARVC9; familial arrhythmogenic right ventricular dysplasia 9 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. [-]
arrhythmogenic right ventricular dysplasia 10	ARVD10; ARVC10; arrhythmogenic right ventricular c.. [+] ARVC10; ARVD10; arrhythmogenic right ventricular cardiomyopathy 10; familial arrhythmogenic right ventricular dysplasia 10 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. [-]
arrhythmogenic right ventricular dysplasia 11	ARVD11; ARVC11; arrhythmogenic right ventricular c.. [+] ARVC11; ARVD11; arrhythmogenic right ventricular cardiomyopathy 11; familial arrhythmogenic right ventricular dysplasia 11 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. [-]
arrhythmogenic right ventricular dysplasia 12	ARVC12; arrhythmogenic right ventricular cardiomyo.. [+] ARVC12; arrhythmogenic right ventricular cardiomyopathy 12; ARVD12; familial arrhythmogenic right ventricular dysplasia 12 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. [-]
arrhythmogenic right ventricular dysplasia 13	arrhythmogenic right ventricular cardiomyopathy 13.. [+] arrhythmogenic right ventricular cardiomyopathy 13; ARVD13; ARVC13; familial arrhythmogenic right ventricular dysplasia 13 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. [-]
asphyxiating thoracic dystrophy 1	ATD1; short-rib thoracic dysplasia 1 with or witho.. [+] ATD1; short-rib thoracic dysplasia 1 with or without polydactyly; SRTD1 [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	ATD2; short-rib thoracic dysplasia 2 with or witho.. [+] ATD2; short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. [-]
asphyxiating thoracic dystrophy 3	ATD3; polydactyly with neonatal chondrodystrophy, .. [+] ATD3; polydactyly with neonatal chondrodystrophy, type I; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRTD3; Verma-Naumoff syndrome; polydactyly with neonatal chondrodystrophy, type III; short rib-polydactyly syndrome, type I; SRPS3 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
asphyxiating thoracic dystrophy 4	ATD4; short-rib thoracic dysplasia 4 with or witho.. [+] ATD4; short-rib thoracic dysplasia 4 with or without polydactyly; SRTD4 [-]	An asphyxiating thoracic dystrophy has_material_ba..[+] An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
asphyxiating thoracic dystrophy 5	ATD5; short-rib thoracic dysplasia 5 with or witho.. [+] ATD5; short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. [-]

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