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Disease	Synonyms	Description
arrhythmogenic right ventricular dysplasia 6	ARVC6; ARVD6; arrhythmogenic right ventricular car.. [+] ARVD6; ARVC6; 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	ARVC8; ARVD8; arrhythmogenic right ventricular car.. [+] ARVD8; ARVC8; 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	ARVC9; ARVD9; arrhythmogenic right ventricular car.. [+] ARVD9; ARVC9; arrhythmogenic right ventricular cardiomyopathy 9; 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	ARVC10; ARVD10; arrhythmogenic right ventricular c.. [+] ARVD10; ARVC10; 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	ARVC11; ARVD11; arrhythmogenic right ventricular c.. [+] ARVD11; ARVC11; 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; ARVD12; arrhythmogenic right ventricular c.. [+] ARVD12; ARVC12; arrhythmogenic right ventricular cardiomyopathy 12; familial arrhythmogenic right ventricular dysplasia 12 [-]	n_a
arrhythmogenic right ventricular dysplasia 13	ARVC13; ARVD13; arrhythmogenic right ventricular c.. [+] ARVD13; ARVC13; arrhythmogenic right ventricular cardiomyopathy 13; 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; polydactyly with neonatal chondrodystrophy, type III; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type I; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRPS3; SRTD3; Verma-Naumoff syndrome [-]	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. [-]
atopic dermatitis 2	ATOD2	An atopic dermatitis conferred by variation in the..[+] An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. [-]
atopic dermatitis 3	atopic dermatitis with asthma; ATOD3	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 20p. [-]
atopic dermatitis 4	ATOD4	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 17q25.3. [-]
atopic dermatitis 5	ATOD5	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 13q12-q14. [-]
atopic dermatitis 6	ATOD6	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 5q31-q33. [-]
atopic dermatitis 7	ATOD7	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 11q13.5. [-]
atopic dermatitis 8	ATOD8	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 4q22.1. [-]
atopic dermatitis 9	ATOD9	An atopic dermatitis associated with variation in ..[+] An atopic dermatitis associated with variation in the region 3p24. [-]
atrial heart septal defect 1	atrial septal defect 1; ASD1	An atrial heart septal defect type 1 associated wi..[+] An atrial heart septal defect type 1 associated with variation in the region 5p. [-]
atrial heart septal defect 2	atrial septal defect 2; ASD2	An atrial heart septal defect type 2 that has mate..[+] An atrial heart septal defect type 2 that has material basis in heterozygous mutation in the GATA4 gene on chromosome 8p23. [-]
atrial heart septal defect 3	atrial septal defect 3; ASD3	An atrial heart septal defect type 3 that has mate..[+] An atrial heart septal defect type 3 that has material basis in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. [-]
atrial heart septal defect 4	atrial septal defect 4; ASD4	An atrial heart septal defect type 4 that has_mate..[+] An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. [-]
atrial heart septal defect 5	atrial septal defect 5; ASD5	An atrial heart septal defect type 5 that has mate..[+] An atrial heart septal defect type 5 that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14. [-]
atrial heart septal defect 6	atrial septal defect 6; ASD6	An atrial heart septal defect type 6 that has mate..[+] An atrial heart septal defect type 6 that has material basis in heterozygous mutation in the TLL1 gene on chromosome 4q32. [-]
atrial heart septal defect 7	atrial septal defect-atrioventricular conduction d.. [+] atrial septal defect-atrioventricular conduction defects syndrome; atrial septal defect 7, with or without AV conduction defects; ASD with or without atrioventricular conduction defects [-]	An atrial heart septal defect that has material ba..[+] An atrial heart septal defect that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. [-]
atrial heart septal defect 8	atrial septal defect 8; ASD8	An atrial heart septal defect that has material ba..[+] An atrial heart septal defect that has material basis in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. [-]
atrial heart septal defect 9	atrial septal defect 9; ASD9	An atrial heart septal defect that has material ba..[+] An atrial heart septal defect that has material basis in heterozygous mutation in the GATA6 gene on chromosome 18q11. [-]
autoimmune lymphoproliferative syndrome type 2A	autoimmune lymphoproliferative syndrome type IIA; .. [+] autoimmune lymphoproliferative syndrome type IIA; ALPS2A [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. [-]
autoimmune lymphoproliferative syndrome type 2B	autoimmune lymphoproliferative syndrome with recur.. [+] autoimmune lymphoproliferative syndrome with recurrent viral infections; autoimmune lymphoproliferative syndrome type IIB; ALPS2B; ALPS with recurrent viral infections; Caspase 8 deficiency; Caspase 8 deficiency syndrome; Caspase eight deficiency state; CEDS [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33. [-]
autoimmune lymphoproliferative syndrome type 4	autoimmune lymphoproliferative syndrome type IV; A.. [+] autoimmune lymphoproliferative syndrome type IV; ALPS4; ALPS type IV; ALPS type 4; RALD; RAS-associated autoimmune leukoproliferative disease; RAS-associated autoimmune leukoproliferative disorder [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. [-]
autoimmune lymphoproliferative syndrome type 3	autoimmune lymphoproliferative syndrome type III; .. [+] autoimmune lymphoproliferative syndrome type III; ALPS3; common variable immunodeficiency 9; CVID9 [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21. [-]
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	Axenfeld-Rieger anomaly with or without cardiac de.. [+] Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; anterior segment mesenchymal dysgenesis; anterior chamber cleavage syndrome; 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. [-]
autosomal dominant limb-girdle muscular dystrophy		A limb-girdle muscular dystrophy that has_material..[+] A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. [-]
autosomal recessive limb-girdle muscular dystrophy		A limb-girdle muscular dystrophy has_material_basi..[+] A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	Leyden-Moebius muscular dystrophy; LGMD2A; limb-gi.. [+] Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. [-]
autosomal recessive limb-girdle muscular dystrophy type 2B	LGMD2B; LGMD3; limb-girdle muscular dystrophy due .. [+] LGMD2B; LGMD3; limb-girdle muscular dystrophy due to dysferlin deficiency; limb-girdle muscular dystrophy type 3 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	autosomal recessive Duchenne-like muscular dystrop.. [+] autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; gamma-sarcoglycanopathy; LGMD2C; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Maghrebian myopathy; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. [-]
autosomal recessive limb-girdle muscular dystrophy type 2D	Alpha-sarcoglycanopathy; DMDA2; Duchenne-like auto.. [+] Alpha-sarcoglycanopathy; DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D; primary adhalinopathy [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q. [-]
autosomal recessive limb-girdle muscular dystrophy type 2E	Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscul.. [+] Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. [-]
autosomal recessive limb-girdle muscular dystrophy type 2F	delta-sarcoglycanopathy; LGMD2F; limb-girdle muscu.. [+] delta-sarcoglycanopathy; LGMD2F; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). [-]
autosomal recessive limb-girdle muscular dystrophy type 2G	LGMD2G; limb-girdle muscular dystrophy due to tele.. [+] LGMD2G; limb-girdle muscular dystrophy due to telethonin deficiency; muscular dystrophy, limb-girdle, type 2G [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). [-]
autosomal recessive limb-girdle muscular dystrophy type 2H	LGMD2H; limb-girdle muscular dystrophy due to TRIM.. [+] LGMD2H; limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; sarcotubular myopathy [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. [-]
autosomal recessive limb-girdle muscular dystrophy type 2J	LGMD2J; muscular dystrophy, limb-girdle, type 2J	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). [-]
autosomal recessive limb-girdle muscular dystrophy type 2L	LGMD2L; muscular dystrophy, limb-girdle, type 2L	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Q	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; LGMD2Q; muscular dystrophy, limb-girdle, type 2Q [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. [-]
autosomal recessive limb-girdle muscular dystrophy type 2R	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; LGMD2R; muscular dystrophy, limb-girdle, type 2R [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the DES gene on chromosome 2q35. [-]

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