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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
autosomal recessive limb-girdle muscular dystrophy type 2O
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LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa..
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LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2P
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LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopa..
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LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2T
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LGMD2T; MDDGC14; muscular dystrophy limb-girdle ty..
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LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2U
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LGMD2U; autosomal recessive limb-girdle muscular d..
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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
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2M
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LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopa..
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LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2K
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limb-girdle muscular dystrophy-intellectual disabi..
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limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD2K; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
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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).
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autosomal recessive limb-girdle muscular dystrophy type 2N
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LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopa..
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LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
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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.
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autosomal recessive limb-girdle muscular dystrophy type 2I
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Limb-girdle muscular dystrophy due to FKRP deficie..
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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
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1A
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limb-girdle muscular dystrophy due to myotilin def..
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limb-girdle muscular dystrophy due to myotilin deficiency; LGMD1A; muscular dystrophy limb-girdle type 1A; proximal muscular dystrophy type 1A
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1B
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Limb-girdle muscular dystrophy due to lamin A/C de..
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Limb-girdle muscular dystrophy due to lamin A/C deficiency; LGMD1B; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B
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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).
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autosomal dominant limb-girdle muscular dystrophy type 1C
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limb-girdle muscular dystrophy due to caveolin-3 d..
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limb-girdle muscular dystrophy due to caveolin-3 deficiency; LGMD1C; muscular dystrophy limb-girdle type IC
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1H
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LGMD1H; muscular dystrophy limb-girdle type 1H
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1F
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LGMD1F; muscular dystrophy limb-girdle type 1F
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1
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LGMD1D; muscular dystrophy limb-girdle type 1D; mu..
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LGMD1D; muscular dystrophy limb-girdle type 1D; muscular dystrophy limb-girdle type 1E; autosomal dominant limb-girdle muscular dystrophy type 1E
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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.
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autosomal dominant limb-girdle muscular dystrophy type 1G
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LGMD1G; muscular dystrophy limb-girdle type 1G
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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.
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autosomal dominant nonsyndromic deafness 1
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LFHL1; autosomal dominant deafness 1; DFNA1; hered..
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LFHL1; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia
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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.
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Stromme syndrome
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lethal fetal brain malformation-duodenal atresia-b..
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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
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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.
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congenital muscular dystrophy due to LMNA mutation
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L-CMD; LMNA-related congenital muscular dystrophy; ..
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LMNA-related congenital muscular dystrophy; L-CMD; congenital muscular dystrophy LMNA-related
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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.
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congenital myasthenic syndrome 10
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LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic s..
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LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; familial limb-girdle myasthenia
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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.
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hypotrichosis 6
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Lah1; autosomal recessive localized hypotrichosis; ..
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Lah1; autosomal recessive localized hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1; Hypt6; Monilethrix-like hypotrichosis
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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.
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hypotrichosis 7
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Lah2; hypotrichosis, localized, autosomal recessiv..
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Lah2; hypotrichosis, localized, autosomal recessive 2; Hypt7; total Mari type hypotrichosis,
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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.
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hypotrichosis 8
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Lah3; hypotrichosis, localized, autosomal recessiv..
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Lah3; hypotrichosis, localized, autosomal recessive 3; Hypt8
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A hypotrichosis has_material_basis_in a autosomal .. [+]
A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.
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hereditary spastic paraplegia 23
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Lison syndrome; Spastic paraparesis-vitiligo-prema..
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Lison syndrome; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities; SPG23
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
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hereditary spastic paraplegia 35
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leukodystrophy, dysmyelinating and spastic parapar..
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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
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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.
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hyperphosphatemic familial tumoral calcinosis
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lipocalcinogranulomatosis; cortical hyperostosis w..
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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
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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.
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Castleman disease
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lymphoid hamartoma; angiofollicular lymph hyperpla..
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lymphoid hamartoma; angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia
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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.
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pentosuria
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L-xylulose reductase deficiency; L-xylulosuria; es..
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L-xylulosuria; L-xylulose reductase deficiency; essential pentosuria; PNTSU; xylitol dehydrogenase deficiency
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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.
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familial lipase maturation factor 1 deficiency
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LPL and HL deficiency; LPL and HTGL deficiency; li..
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LPL and HTGL deficiency; LPL and HL deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; combined lipase deficiency; familial LMF1 deficiency
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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.
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combined oxidative phosphorylation deficiency 12
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LTBL; leukoencephalopathy-thalamus and brainstem a..
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LTBL; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; leukoencephalopathy with thalamus and brainstem involvement and high lactate; COXPD12
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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.
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Torrance type platyspondylic dysplasia
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lethal short-limbed platyspondylic dwarfism, Torra..
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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
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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.
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syndromic microphthalmia 1
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Lenz microphthalmia; Lenz type microphthalmia; Len..
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Lenz type microphthalmia; Lenz microphthalmia; Lenz dysplasia; MCOPS1; syndromic microphthalmia 4
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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.
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Schinzel type phocomelia
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limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; AA..
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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
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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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