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Disease	Synonyms	Description
autosomal recessive limb-girdle muscular dystrophy type 2O	LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa.. [+] LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-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 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 1A	limb-girdle muscular dystrophy due to myotilin def.. [+] limb-girdle muscular dystrophy due to myotilin deficiency; LGMD1A; muscular dystrophy limb-girdle type 1A; 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	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 1C	limb-girdle muscular dystrophy due to caveolin-3 d.. [+] limb-girdle muscular dystrophy due to caveolin-3 deficiency; LGMD1C; muscular dystrophy limb-girdle type IC [-]	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. [-]
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 1F	LGMD1F; muscular dystrophy limb-girdle 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 1D; mu.. [+] LGMD1D; muscular dystrophy limb-girdle type 1D; muscular dystrophy limb-girdle type 1E; 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 1G	LGMD1G; muscular dystrophy limb-girdle 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; apple peel syndrome with microcephaly and ocular anomalies; CILD31; jejunal atresia with microcephaly and ocular anomalies; primary ciliary dyskinesia 31 [-]	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 [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal 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 4p. [-]
hypotrichosis 6	Lah1; autosomal recessive localized hypotrichosis; .. [+] Lah1; autosomal recessive localized hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1; Hypt6; Monilethrix-like hypotrichosis [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 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. [-]
hypotrichosis 8	Lah3; hypotrichosis, localized, autosomal recessiv.. [+] Lah3; hypotrichosis, localized, autosomal recessive 3; Hypt8 [-]	A hypotrichosis has_material_basis_in a autosomal ..[+] A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2. [-]
hereditary spastic paraplegia 23	Lison syndrome; Spastic paraparesis-vitiligo-prema.. [+] Lison syndrome; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities; SPG23 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. [-]
hereditary spastic paraplegia 35	leukodystrophy, dysmyelinating and spastic parapar.. [+] leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; SPG35 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. [-]
hyperphosphatemic familial tumoral calcinosis	lipocalcinogranulomatosis; cortical hyperostosis w.. [+] lipocalcinogranulomatosis; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
Castleman disease	lymphoid hamartoma; angiofollicular lymph hyperpla.. [+] lymphoid hamartoma; angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
pentosuria	L-xylulose reductase deficiency; L-xylulosuria; es.. [+] L-xylulosuria; L-xylulose reductase deficiency; essential pentosuria; PNTSU; xylitol dehydrogenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
familial lipase maturation factor 1 deficiency	LPL and HL deficiency; LPL and HTGL deficiency; li.. [+] LPL and HTGL deficiency; LPL and HL deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; combined lipase deficiency; familial LMF1 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
combined oxidative phosphorylation deficiency 12	LTBL; leukoencephalopathy-thalamus and brainstem a.. [+] LTBL; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; leukoencephalopathy with thalamus and brainstem involvement and high lactate; COXPD12 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
Torrance type platyspondylic dysplasia	lethal short-limbed platyspondylic dwarfism, Torra.. [+] lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia, Torrance variant [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
syndromic microphthalmia 1	Lenz microphthalmia; Lenz type microphthalmia; Len.. [+] Lenz type microphthalmia; Lenz microphthalmia; Lenz dysplasia; MCOPS1; syndromic microphthalmia 4 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
Schinzel type phocomelia	limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; AA.. [+] LPHAS; limb/pelvis-hypoplasia/aplasia syndrome; AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; Schinzel phocomelia syndrome; severe limb deficit [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]

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