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Disease	Synonyms	Description
contractures, pterygia, and spondylocarpotarsal fusion syndrome	multiple pterygium syndrome	A syndrome that is characterized by permanently be..[+] A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. [-]
Sengers syndrome	mitochondrial DNA depletion syndrome 10	n_a
superior semicircular canal dehiscence	minorâ€™s syndrome; canal dehiscence syndrome; sup.. [+] minorâ€™s syndrome; canal dehiscence syndrome; superior canal dehiscence; superior canal syndrome; superior semicircular canal dehiscence syndrome; third mobile window syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. [-]
Phelan-McDermid syndrome	monosomy 22q13 syndrome; 22q13.3 deletion syndrome.. [+] monosomy 22q13 syndrome; 22q13.3 deletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. [-]
intellectual developmental disorder with ocular anomalies and distinctive facial features	MTSS2-related neurodevelopmental disorder; IDDOF	A syndromic intellectual disability that is charac..[+] A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. [-]
Schwartz-Jampel syndrome 1	myotonic myopathy, dwarfism, chondrodystrophy, ocu.. [+] myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; myotonic chondrodystrophy; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
chromosome 5q deletion syndrome	myelodysplastic syndrome associated with isolated .. [+] myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality; 5q- syndrome, refractory macrocytic anemia due to 5q deletion [-]	A chromosome deletion syndrome characterized by se..[+] A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. [-]
3-methylglutaconic aciduria type 5	MGA5; MGCA5; 3-methylglutaconic aciduria type V; D.. [+] MGCA5; MGA5; 3-methylglutaconic aciduria type V; DCMA; DCMA syndrome; dilated cardiomyopathy with ataxia [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. [-]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	MEGDEL; MEGDEL syndrome; MGCA6; 3-methylglutaconic.. [+] MGCA6; MEGDEL syndrome; MEGDEL; 3-methylglutaconic aciduria type 6 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. [-]
3-methylglutaconic aciduria type 1	MGA type I; MGA1; 3-methylglutaconic aciduria type.. [+] MGA1; MGA type I; 3-methylglutaconic aciduria type I; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. [-]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	MEGCANN; MGA7; MGCA7; 3-methylglutaconic aciduria .. [+] MGCA7; MGA7; MEGCANN; 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type VII [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. [-]
3-methylglutaconic aciduria type 3	MGA3; 3-methylglutaconic aciduria type III; autoso.. [+] MGA3; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
3-methylglutaconic aciduria type 4	MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu.. [+] MGCA4; MGA4; MGA type IV; 3-methylglutaconic aciduria type IV [-]	A 3-methylglutaconic aciduria that is characterize..[+] A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. [-]
short-rib thoracic dysplasia 6 with or without polydactyly	Majewski syndrome; polydactyly with neonatal chond.. [+] Majewski syndrome; polydactyly with neonatal chondrodystrophy, type II; short rib-polydactyly syndrome type IIA; SRPS2A; SRTD6 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. [-]
Charcot-Marie-Tooth disease type 1A	microduplication 17p12; autosomal dominant Charcot.. [+] microduplication 17p12; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	muscular dystrophy, limb-girdle, type 2A; Leyden-M.. [+] muscular dystrophy, limb-girdle, type 2A; Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; 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 2C	muscular dystrophy, limb-girdle, type 2C; Maghrebi.. [+] muscular dystrophy, limb-girdle, type 2C; Maghrebian myopathy; 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; 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	muscular dystrophy, limb-girdle, type 2D; Alpha-sa.. [+] muscular dystrophy, limb-girdle, type 2D; Alpha-sarcoglycanopathy; DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; 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	muscular dystrophy, limb-girdle, type 2E; Beta-sar.. [+] muscular dystrophy, limb-girdle, type 2E; Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency [-]	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 2G	muscular dystrophy, limb-girdle, type 2G; LGMD2G; .. [+] muscular dystrophy, limb-girdle, type 2G; LGMD2G; limb-girdle muscular dystrophy due to telethonin deficiency [-]	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	muscular dystrophy Hutterite type; LGMD2H; limb-gi.. [+] muscular dystrophy Hutterite type; LGMD2H; limb-girdle muscular dystrophy due to TRIM32 deficiency; 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	muscular dystrophy, limb-girdle, type 2J; LGMD2J	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	muscular dystrophy, limb-girdle, type 2L; LGMD2L	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	muscular dystrophy, limb-girdle, type 2Q; autosoma.. [+] muscular dystrophy, limb-girdle, type 2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; 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 2R	muscular dystrophy, limb-girdle, type 2R; autosoma.. [+] muscular dystrophy, limb-girdle, type 2R; autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; LGMD2R [-]	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. [-]
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	muscular dystrophy, limb-girdle, type 2W; LGMD2W	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	muscular dystrophy, limb-girdle, type 2Y; muscular.. [+] muscular dystrophy, limb-girdle, type 2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine; autosomal recessive muscular dystrophy due to LAP1B deficiency; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD2Y [-]	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	muscular dystrophy, limb-girdle, type 2X; LGMD2X	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	muscular dystrophy-dystroglycanopathy limb-girdle .. [+] muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; MDDGC3; LGMD2O [-]	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	muscular dystrophy-dystroglycanopathy limb-girdle .. [+] muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; MDDGC9; LGMD2P [-]	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	muscular dystrophy-dystroglycanopathy limb-girdle .. [+] muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy limb-girdle type 2T; MDDGC14; LGMD2T [-]	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	muscular dystrophy-dystroglycanopathy (limb-girdle.. [+] muscular dystrophy-dystroglycanopathy (limb-girdle) type C7; muscular dystrophy limb-girdle type 2U; MDDGC7; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; LGMD2U [-]	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	muscular dystrophy-dystroglycanopathy (limb-girdle.. [+] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4; MDDGC4; LGMD2M [-]	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	muscular dystrophy-dystroglycanopathy (limb-girdle.. [+] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1; muscular dystrophy limb-girdle type 2K; MDDGC1; LGMD2K; 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	muscular dystrophy-dystroglycanopathy limb-girdle .. [+] muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; MDDGC2; LGMD2N [-]	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	muscular dystrophy-dystroglycanopathy limb-girdle .. [+] muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy limb-girdle type 2I; MDDGC5; LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency [-]	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 1A	muscular dystrophy limb-girdle type 1A; LGMD1A; li.. [+] muscular dystrophy limb-girdle type 1A; LGMD1A; limb-girdle muscular dystrophy due to myotilin deficiency; proximal muscular dystrophy type 1A [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	muscular dystrophy, limb-girdle type 1B; LGMD1B; L.. [+] muscular dystrophy, limb-girdle type 1B; LGMD1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency; 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 1C	muscular dystrophy limb-girdle type IC; LGMD1C; li.. [+] muscular dystrophy limb-girdle type IC; LGMD1C; limb-girdle muscular dystrophy due to caveolin-3 deficiency [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. [-]