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Disease	Synonyms	Description	Articles
autosomal recessive intellectual developmental disorder 76		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. [-]
autosomal recessive intellectual developmental disorder 77		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. [-]
autosomal recessive intellectual developmental disorder 82		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. [-]
autosomal recessive intellectual developmental disorder 83	MRT83;	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. [-]
autosomal recessive intellectual developmental disorder 9/26		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. [-]
autosomal recessive isolated ectopia lentis 2	ECTOL2;	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. [-]
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 23	LGMDR23;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. [-]
autosomal recessive limb-girdle muscular dystrophy type 26	LGMDR26;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. [-]
autosomal recessive limb-girdle muscular dystrophy type 27	LGMDR27;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. [-]
autosomal recessive limb-girdle muscular dystrophy type 28	LGMDR28; Limb-girdle, type 28R;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. [-]
autosomal recessive limb-girdle muscular dystrophy type 29	LGMDR29;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. [-]
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; gamma-sarcoglycanopathy; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2C; Maghrebian myopathy; DMDA1; LGMD2C; 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; 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; delta-sarcoglycanopathy; limb-girdle muscu.. [+] LGMD2F; delta-sarcoglycanopathy; 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	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 2I	LGMD2I; Limb-girdle muscular dystrophy due to FKRP.. [+] LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related; MDDGC5; [-]	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 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 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 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 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 2N	MDDGC2; LGMD2N; muscular dystrophy-dystroglycanopa.. [+] MDDGC2; LGMD2N; 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 2O	MDDGC3; LGMD2O; muscular dystrophy-dystroglycanopa.. [+] MDDGC3; LGMD2O; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related; 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 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 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	LGMD2U; MDDGC7; muscular dystrophy limb-girdle typ.. [+] LGMD2U; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; [-]	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 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 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 2Y	autosomal recessive muscular dystrophy due to Tors.. [+] autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine; autosomal recessive muscular dystrophy due to LAP1B deficiency; 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 2Z	limb-girdle muscular dystrophy 21;	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. [-]
autosomal recessive nonsyndromic deafness		A nonsyndromic deafness characterized by an autoso..[+] A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. [-]	2 articles
autosomal recessive nonsyndromic deafness 100	autosomal recessive deafness 100; DFNB100;	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. [-]
autosomal recessive nonsyndromic deafness 101	autosomal recessive deafness 101; DFNB101;	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. [-]
autosomal recessive nonsyndromic deafness 102	autosomal recessive deafness 102; DFNB102;	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. [-]