| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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neuronal ceroid lipofuscinosis 4
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autosomal dominant neuronal ceroid lipofuscinosis ..
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autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease; neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type
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A neuronal ceroid lipofuscinosis that is character.. [+]A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
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neuronal ceroid lipofuscinosis 6B
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autosomal recessive neuronal ceroid lipofuscinosis..
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autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A; neuronal ceroid lipofuscinosis 4A
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A neuronal ceroid lipofuscinosis that is character.. [+]A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
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neurodegeneration with brain iron accumulation 3
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Adult basal ganglia disease; Ferritin-related neur..
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Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy; Neuroferritinopathy; NBIA3; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
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A neurodegeneration with brain iron accumulation t.. [+]A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
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hereditary spastic paraplegia 10
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autosomal dominant spastic paraplegia type 10; aut..
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autosomal dominant spastic paraplegia type 10; autosomal dominant spastic paraplegia 10; SPG10
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.
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hereditary spastic paraplegia 11
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autosomal recessive spastic paraplegia with mental..
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autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia type 11; HSP-TCC; Nakamura-Osame syndrome; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; SPG11
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
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hereditary spastic paraplegia 12
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autosomal dominant spastic paraplegia type 12; aut..
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autosomal dominant spastic paraplegia type 12; autosomal dominant spastic paraplegia 12; SPG12
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.
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hereditary spastic paraplegia 13
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autosomal dominant spastic paraplegia 13; SPG13
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.
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hereditary spastic paraplegia 14
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autosomal recessive spastic paraplegia type 14; au..
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autosomal recessive spastic paraplegia type 14; autosomal recessive spastic paraplegia 14; SPG14
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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 3q27-q28.
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hereditary spastic paraplegia 15
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autosomal recessive spastic paraplegia type 15; au..
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autosomal recessive spastic paraplegia type 15; autosomal recessive spastic paraplegia 15; hereditary spastic paraparesis type 15; Kjellin syndrome; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; SPG15
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.
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hereditary spastic paraplegia 17
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autosomal dominant spastic paraplegia type 17; aut..
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autosomal dominant spastic paraplegia type 17; autosomal dominant spastic paraplegia 17; distal hereditary motor neuropathy type 5B; dHMN5B; Silver spastic paraplegia syndrome; Silver syndrome; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; SPG17
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
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hereditary spastic paraplegia 18
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autosomal recessive spastic paraplegia type 18; au..
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autosomal recessive spastic paraplegia type 18; autosomal recessive spastic paraplegia 18; IDMDC; intellectual disability, motor dysfunction and joint contractures; SPG18
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
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hereditary spastic paraplegia 19
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autosomal dominant spastic paraplegia type 19; aut..
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autosomal dominant spastic paraplegia type 19; autosomal dominant spastic paraplegia 19; SPG19
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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 9q.
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hereditary spastic paraplegia 24
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autosomal recessive spastic paraplegia type 24; au..
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autosomal recessive spastic paraplegia type 24; autosomal recessive spastic paraplegia 24; SPG24
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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 13q14.
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hereditary spastic paraplegia 25
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autosomal recessive spastic paraplegia type 25; au..
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autosomal recessive spastic paraplegia type 25; autosomal recessive spastic paraplegia 25; SPG25
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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 6q23-q24.1.
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hereditary spastic paraplegia 26
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autosomal recessive spastic paraplegia type 26; au..
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autosomal recessive spastic paraplegia type 26; autosomal recessive spastic paraplegia 26; GM2 synthase deficiency; SPG26
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
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hereditary spastic paraplegia 27
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autosomal recessive spastic paraplegia type 27; au..
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autosomal recessive spastic paraplegia type 27; autosomal recessive spastic paraplegia 27; SPG27
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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 10q22.1-q24.1.
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hereditary spastic paraplegia 28
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autosomal recessive spastic paraplegia type 28; au..
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autosomal recessive spastic paraplegia type 28; autosomal recessive spastic paraplegia 28; SPG28
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
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hereditary spastic paraplegia 29
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autosomal dominant spastic paraplegia 29; SPG29
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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 1p31.1-p21.1.
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hereditary spastic paraplegia 30
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autosomal dominant spastic paraplegia 30; autosoma..
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autosomal dominant spastic paraplegia 30; autosomal spastic paraplegia type 30; autosomal recessive spastic paraplegia 30; SPG30
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
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hereditary spastic paraplegia 31
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autosomal dominant spastic paraplegia type 31; aut..
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autosomal dominant spastic paraplegia type 31; autosomal dominant spastic paraplegia 31; SPG31
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
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hereditary spastic paraplegia 32
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autosomal recessive spastic paraplegia 32; autosom..
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autosomal recessive spastic paraplegia 32; autosomal recessive spastic paraplegia type 32; SPG32
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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 14q12-q21.
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hereditary spastic paraplegia 33
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autosomal dominant spastic paraplegia 33; SPG33
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.
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hereditary spastic paraplegia 35
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autosomal recessive spastic paraplegia type 35; au..
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autosomal recessive spastic paraplegia type 35; autosomal recessive spastic paraplegia 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; 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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hereditary spastic paraplegia 36
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autosomal dominant spastic paraplegia type 36; aut..
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autosomal dominant spastic paraplegia type 36; autosomal dominant spastic paraplegia 36; SPG36
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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 12q23-q24.
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hereditary spastic paraplegia 37
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autosomal dominant spastic paraplegia type 37; aut..
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autosomal dominant spastic paraplegia type 37; autosomal dominant spastic paraplegia 37; SPG37
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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 8p21.1-q13.3.
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hereditary spastic paraplegia 38
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autosomal dominant spastic paraplegia type 38; aut..
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autosomal dominant spastic paraplegia type 38; autosomal dominant spastic paraplegia 38; SPG38
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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 4p16-p15.
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hereditary spastic paraplegia 39
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autosomal recessive spastic paraplegia type 39; au..
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autosomal recessive spastic paraplegia type 39; autosomal recessive spastic paraplegia 39; NTE-related motor neuron disorder; NTEMND; spastic paraplegia due to neuropathy target esterase mutation; SPG39; spastic paraplegia due to NTE mutation
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
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hereditary spastic paraplegia 3A
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autosomal dominant spastic paraplegia type 3; auto..
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autosomal dominant spastic paraplegia type 3; autosomal dominant spastic paraplegia 3; autosomal dominant familial spastic paraplegia 1; SPG3A; strumpell disease; FSP1
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.
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hereditary spastic paraplegia 4
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autosomal dominant spastic paraplegia 4; autosomal..
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autosomal dominant spastic paraplegia 4; autosomal dominant spastic paraplegia type 4; SPG4
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.
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hereditary spastic paraplegia 41
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autosomal dominant spastic paraplegia type 41; aut..
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autosomal dominant spastic paraplegia type 41; autosomal dominant spastic paraplegia 41; SPG41
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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 11p14.1-p11.2.
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hereditary spastic paraplegia 42
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autosomal dominant spastic paraplegia type 42; aut..
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autosomal dominant spastic paraplegia type 42; autosomal dominant spastic paraplegia 42; SPG42
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
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hereditary spastic paraplegia 43
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autosomal recessive spastic paraplegia 43; autosom..
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autosomal recessive spastic paraplegia 43; autosomal recessive spastic paraplegia type 43; SPG43
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
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hereditary spastic paraplegia 44
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autosomal recessive spastic paraplegia 44; SPG44
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
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hereditary spastic paraplegia 45
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autosomal recessive spastic paraplegia type 65; au..
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autosomal recessive spastic paraplegia type 65; autosomal recessive spastic paraplegia type 45; autosomal recessive spastic paraplegia 45; SPG45; SPG65
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.
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hereditary spastic paraplegia 46
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autosomal recessive spastic paraplegia 46; autosom..
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autosomal recessive spastic paraplegia 46; autosomal recessive spastic paraplegia type 46; SPG46
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
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hereditary spastic paraplegia 47
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autosomal recessive spastic paraplegia 47; spastic..
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autosomal recessive spastic paraplegia 47; spastic quadriplegic cerebral palsy 5; SPG47; CPSQ5
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
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hereditary spastic paraplegia 48
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autosomal recessive spastic paraplegia 48; autosom..
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autosomal recessive spastic paraplegia 48; autosomal recessive spastic paraplegia type 48; SPG48
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.
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hereditary spastic paraplegia 49
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autosomal recessive spastic paraplegia type 49; au..
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autosomal recessive spastic paraplegia type 49; autosomal recessive spastic paraplegia 49; SPG49
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32.
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hereditary spastic paraplegia 50
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autosomal recessive spastic paraplegia 50; AP-4-As..
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autosomal recessive spastic paraplegia 50; AP-4-Associated Hereditary Spastic Paraplegia; AP-4 deficiency syndrome; adaptor protein complex 4 deficiency; CPSQ3; SPG50; spastic quadriplegic cerebral palsy 3
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
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hereditary spastic paraplegia 51
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autosomal dominant spastic paraplegia 51; CPSQ4; s..
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autosomal dominant spastic paraplegia 51; CPSQ4; spastic quadriplegic cerebral palsy 4; SPG51
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
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hereditary spastic paraplegia 52
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autosomal recessive spastic paraplegia 52; CPSQ6; ..
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autosomal recessive spastic paraplegia 52; CPSQ6; spastic quadriplegic cerebral palsy 6; SPG52
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
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hereditary spastic paraplegia 53
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autosomal recessive spastic paraplegia type 53; au..
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autosomal recessive spastic paraplegia type 53; autosomal recessive spastic paraplegia 53; SPG53
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.
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hereditary spastic paraplegia 54
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autosomal recessive spastic paraplegia type 54; au..
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autosomal recessive spastic paraplegia type 54; autosomal recessive spastic paraplegia 54; SPG54
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
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hereditary spastic paraplegia 55
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autosomal recessive spastic paraplegia type 55; au..
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autosomal recessive spastic paraplegia type 55; autosomal recessive spastic paraplegia 55; SPG55
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.
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hereditary spastic paraplegia 56
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autosomal recessive spastic paraplegia type 56; au..
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autosomal recessive spastic paraplegia type 56; autosomal recessive spastic paraplegia 56; SPG56
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
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hereditary spastic paraplegia 57
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autosomal recessive spastic paraplegia type 57; au..
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autosomal recessive spastic paraplegia type 57; autosomal recessive spastic paraplegia 57; SPG57
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.
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hereditary spastic paraplegia 5A
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autosomal recessive spastic paraplegia type 5A; au..
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autosomal recessive spastic paraplegia type 5A; autosomal recessive spastic paraplegia 5A; SPG5A
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
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hereditary spastic paraplegia 6
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autosomal dominant spastic paraplegia type 6; auto..
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autosomal dominant spastic paraplegia type 6; autosomal dominant spastic paraplegia 6; autosomal dominant familial spastic paraplegia type 3; FSP3; SPG6
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A hereditary spastic paraplegia that is usually ch.. [+]A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
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hereditary spastic paraplegia 61
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autosomal recessive spastic paraplegia type 61; au..
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autosomal recessive spastic paraplegia type 61; autosomal recessive spastic paraplegia 61; SPG61
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.
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hereditary spastic paraplegia 62
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autosomal recessive spastic paraplegia type 62; au..
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autosomal recessive spastic paraplegia type 62; autosomal recessive spastic paraplegia 62; SPG62
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A hereditary spastic paraplegia that has_material_.. [+]A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.
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