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Disease	Synonyms	Description
epidermolysis bullosa simplex with muscular dystrophy	limb-girdle muscular dystrophy with epidermolysis .. [+] limb-girdle muscular dystrophy with epidermolysis bullosa simplex; epidermolysis bullosa simplex and limb-girdle muscular dystrophy [-]	An syndrome characterized by early childhood onset..[+] An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. [-]
split hand-foot malformation	lobster-claw deformity; split-hand deformity	A bone development disease characterized by malfor..[+] A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	Leydig cell hypoplasia due to luteinizing hormone .. [+] Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome; fertile eunuch syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
brain small vessel disease 1	leukoencephalopathy with Axenfeld-Riegar anomaly; .. [+] leukoencephalopathy with Axenfeld-Riegar anomaly; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; infantile hemiparesis; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
carnitine palmitoyltransferase I deficiency	L-CPT1 deficiency; carnitine palmitoyl transferase.. [+] L-CPT1 deficiency; carnitine palmitoyl transferase 1A deficiency; CPT I deficiency; CPT1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic CPT deficiency type I; carnitine palmitoyl transferase IA deficiency; hepatic carnitine palmitoyl transferase I deficiency [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
cataract 23	lamellar cataract 23; CTRCT23	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	LGMD2A; limb-girdle muscular dystrophy due to calp.. [+] LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; Leyden-Moebius muscular dystrophy; muscular dystrophy, limb-girdle, type 2A; primary calpainopathy; 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	limb-girdle muscular dystrophy type 3; limb-girdle.. [+] limb-girdle muscular dystrophy type 3; limb-girdle muscular dystrophy due to dysferlin deficiency; LGMD3; LGMD2B [-]	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	limb-girdle muscular dystrophy due to gamma-sarcog.. [+] limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; LGMD2C; autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; gamma-sarcoglycanopathy; 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	LGMD2D; Alpha-sarcoglycanopathy; Duchenne-like aut.. [+] LGMD2D; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; 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	Limb-girdle muscular dystrophy due to beta-sarcogl.. [+] Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; LGMD2E; Beta-sarcoglycanopathy; 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	limb-girdle muscular dystrophy due to delta-sarcog.. [+] limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; LGMD2F; 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	limb-girdle muscular dystrophy due to telethonin d.. [+] limb-girdle muscular dystrophy due to telethonin deficiency; LGMD2G; 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	LGMD2Q; autosomal recessive limb-girdle muscular d.. [+] LGMD2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; 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 2S	LGMD2S; muscular dystrophy, limb-girdle, type 2S	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	LGMD2Y; autosomal recessive muscular dystrophy due.. [+] LGMD2Y; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; 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 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	LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa.. [+] LGMD2O; MDDGC3; 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 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; autosomal recessive limb-girdle muscular d.. [+] LGMD2U; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; 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	limb-girdle muscular dystrophy-intellectual disabi.. [+] limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD2K; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 [-]	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	Limb-girdle muscular dystrophy due to FKRP deficie.. [+] Limb-girdle muscular dystrophy due to FKRP deficiency; LGMD2I; 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	Limb-girdle muscular dystrophy due to lamin A/C de.. [+] Limb-girdle muscular dystrophy due to lamin A/C deficiency; LGMD1B; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B [-]	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). [-]
autosomal dominant limb-girdle muscular dystrophy type 1H	LGMD1H; muscular dystrophy limb-girdle type 1H	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. [-]
autosomal dominant limb-girdle muscular dystrophy type 2	LGMD1F; muscular dystrophy limb-girdle type 1F; au.. [+] LGMD1F; muscular dystrophy limb-girdle type 1F; autosomal dominant limb-girdle muscular dystrophy type 1F [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. [-]
autosomal dominant limb-girdle muscular dystrophy type 1	LGMD1D; muscular dystrophy limb-girdle type 1E; mu.. [+] LGMD1D; muscular dystrophy limb-girdle type 1E; muscular dystrophy limb-girdle type 1D; autosomal dominant limb-girdle muscular dystrophy type 1E [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. [-]
autosomal dominant limb-girdle muscular dystrophy type 3	LGMD1G; muscular dystrophy limb-girdle type 1G; au.. [+] LGMD1G; muscular dystrophy limb-girdle type 1G; autosomal dominant limb-girdle muscular dystrophy type 1G [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. [-]
autosomal dominant nonsyndromic deafness 1	LFHL1; autosomal dominant deafness 1; DFNA1; hered.. [+] LFHL1; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
Stromme syndrome	lethal fetal brain malformation-duodenal atresia-b.. [+] lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; CILD31; jejunal atresia with microcephaly and ocular anomalies; primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
congenital muscular dystrophy due to LMNA mutation	L-CMD; LMNA-related congenital muscular dystrophy; .. [+] LMNA-related congenital muscular dystrophy; L-CMD; congenital muscular dystrophy LMNA-related [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
congenital myasthenic syndrome 10	LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic s.. [+] LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; familial limb-girdle myasthenia; congenital muscular dystrophy merosin-positive [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. [-]
hypotrichosis 6	Lah1; autosomal recessive localized hypotrichosis; .. [+] Lah1; autosomal recessive localized hypotrichosis; Hypt6; Monilethrix-like hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. [-]
hypotrichosis 7	Lah2; hypotrichosis, localized, autosomal recessiv.. [+] Lah2; hypotrichosis, localized, autosomal recessive 2; Hypt7; total Mari type hypotrichosis, [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. [-]