Disease Index

9,486 diseases

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 limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12

MeSH: C535900

autosomal recessive limb-girdle muscular dystrophy type 2D

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

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

autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the sarcoglycan-delta gene (SGCD)

MeSH: C535896

autosomal recessive limb-girdle muscular dystrophy type 2G

autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP)

MeSH: C566599

autosomal recessive limb-girdle muscular dystrophy type 2H

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

MeSH: C535897

autosomal recessive limb-girdle muscular dystrophy type 2I

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

MeSH: C564612

autosomal recessive limb-girdle muscular dystrophy type 2J

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the titin gene (TTN)

MeSH: C563854

autosomal recessive limb-girdle muscular dystrophy type 2K

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

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14

MeSH: C566968

autosomal recessive limb-girdle muscular dystrophy type 2M

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

MeSH: C566912

autosomal recessive limb-girdle muscular dystrophy type 2N

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

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

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 that has material basis in homozygous mutation in the PLEC1 gene

autosomal recessive limb-girdle muscular dystrophy type 2S

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

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 that hhas material basis in homozygous mutation in the ISPD gene on chromosome 7p21

autosomal recessive limb-girdle muscular dystrophy type 2W

autosomal recessive limb-girdle muscular dystrophy that has material basis in compound heterozygous mutation in the LIMS2 gene on chromosome 2q14

autosomal recessive limb-girdle muscular dystrophy type 2X

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 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

autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking

autosomal recessive limb-girdle muscular dystrophy type R1

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 lower motor neuron disease with childhood onset

human disease

MeSH: C567023

autosomal recessive lymphoproliferative disease

human disease

autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

genes which lead to a residual response of IFN-gamma

autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

human disease

Page 35 of 317 (9,486 total)

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