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Disease	Synonyms	Description	Articles
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	ASD1; atrial septal defect 1	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. [-]	2 articles
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	ALPS2A; autoimmune lymphoproliferative syndrome ty.. [+] ALPS2A; autoimmune lymphoproliferative syndrome type IIA [-]	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 type IIB; .. [+] autoimmune lymphoproliferative syndrome type IIB; autoimmune lymphoproliferative syndrome with recurrent viral infections; ALPS2B; ALPS with recurrent viral infections; Caspase 8 deficiency; Caspase 8 deficiency syndrome; CEDS; Caspase eight deficiency state [-]	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	ALPS type 4; autoimmune lymphoproliferative syndro.. [+] ALPS type 4; autoimmune lymphoproliferative syndrome type IV; ALPS4; ALPS type IV; RAS-associated autoimmune leukoproliferative disease; RAS-associated autoimmune leukoproliferative disorder; RALD [-]	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; CVID9; common variable immunodeficiency 9 [-]	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. [-]	2 articles
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 segment mesenchymal dysgenesis; Axenfeld-.. [+] anterior segment mesenchymal dysgenesis; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; 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; limb-girdle mus.. [+] Leyden-Moebius muscular dystrophy; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; primary calpainopathy; LGMD2A; pelvofemoral muscular dystrophy [-]	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; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type; Maghrebian myopathy [-]	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; Duchenne-like autosomal r.. [+] Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D; DMDA2; 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) 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	LGMD2F; limb-girdle muscular dystrophy due to delt.. [+] LGMD2F; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; delta-sarcoglycanopathy [-]	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	limb-girdle muscular dystrophy due to TRIM32 defic.. [+] limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; LGMD2H; 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; muscular dystrophy, limb-girdle, type 2Q; LGMD2Q [-]	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 2S	muscular dystrophy, limb-girdle, type 2S; LGMD2S	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. [-]
autosomal recessive limb-girdle muscular dystrophy type 2W	LGMD2W; muscular dystrophy, limb-girdle, type 2W	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Y	autosomal recessive muscular dystrophy due to LAP1.. [+] autosomal recessive muscular dystrophy due to LAP1B deficiency; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, limb-girdle, type 2Y [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. [-]
autosomal recessive limb-girdle muscular dystrophy type 2X	LGMD2X; muscular dystrophy, limb-girdle, type 2X	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2O	MDDGC3; muscular dystrophy-dystroglycanopathy limb.. [+] MDDGC3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related; LGMD2O; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. [-]
autosomal recessive limb-girdle muscular dystrophy type 2P	LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopa.. [+] LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2T	LGMD2T; MDDGC14; muscular dystrophy limb-girdle ty.. [+] LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related [-]	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 GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2U	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; LGMD2U; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2M	LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopa.. [+] LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 [-]	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 fukutin (FKTN) on chromosome 9q31. [-]
autosomal recessive limb-girdle muscular dystrophy type 2K	LGMD2K; MDDGC1; muscular dystrophy limb-girdle typ.. [+] LGMD2K; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1; limb-girdle muscular dystrophy-intellectual disability syndrome [-]	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 protein O-mannosyltransferase (POMT1). [-]
autosomal recessive limb-girdle muscular dystrophy type 2N	LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopa.. [+] LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related [-]	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 POMT2 gene on chromosome 14q24.3. [-]
autosomal recessive limb-girdle muscular dystrophy type 2I	LGMD2I; Limb-girdle muscular dystrophy due to FKRP.. [+] LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related [-]	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 fukutin-related protein (FKRP) on chromosome 19q13.3. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	LGMD1B; muscular dystrophy, limb-girdle type 1B; p.. [+] LGMD1B; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). [-]

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