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Disease	Synonyms	Description	Articles
hereditary spastic paraplegia 36	SPG36; autosomal dominant spastic paraplegia 36; a.. [+] SPG36; autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. [-]
hereditary spastic paraplegia 37	SPG37; autosomal dominant spastic paraplegia 37; a.. [+] SPG37; autosomal dominant spastic paraplegia 37; autosomal dominant spastic paraplegia type 37 [-]	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. [-]
hereditary spastic paraplegia 38	SPG38; autosomal dominant spastic paraplegia 38; a.. [+] SPG38; autosomal dominant spastic paraplegia 38; autosomal dominant spastic paraplegia type 38 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. [-]
hereditary spastic paraplegia 39	SPG39; spastic paraplegia due to NTE mutation; spa.. [+] spastic paraplegia due to NTE mutation; SPG39; spastic paraplegia due to neuropathy target esterase mutation; autosomal recessive spastic paraplegia 39; NTE-related motor neuron disorder; NTEMND; autosomal recessive spastic paraplegia type 39 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. [-]
hereditary spastic paraplegia 3A	SPG3A; strumpell disease; autosomal dominant famil.. [+] strumpell disease; SPG3A; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; FSP1 [-]	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. [-]
hereditary spastic paraplegia 4	SPG4; autosomal dominant spastic paraplegia type 4.. [+] SPG4; autosomal dominant spastic paraplegia type 4; autosomal dominant spastic paraplegia 4 [-]	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. [-]
hereditary spastic paraplegia 41	SPG41; autosomal dominant spastic paraplegia 41; a.. [+] SPG41; autosomal dominant spastic paraplegia 41; autosomal dominant spastic paraplegia type 41 [-]	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. [-]
hereditary spastic paraplegia 42	SPG42; autosomal dominant spastic paraplegia 42; a.. [+] SPG42; autosomal dominant spastic paraplegia 42; autosomal dominant spastic paraplegia type 42 [-]	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. [-]
hereditary spastic paraplegia 43	SPG43; autosomal recessive spastic paraplegia type.. [+] SPG43; autosomal recessive spastic paraplegia type 43; autosomal recessive spastic paraplegia 43 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. [-]
hereditary spastic paraplegia 44	SPG44; autosomal recessive spastic paraplegia 44	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. [-]
hereditary spastic paraplegia 45	SPG45; SPG65; autosomal recessive spastic parapleg.. [+] SPG65; SPG45; autosomal recessive spastic paraplegia type 45; autosomal recessive spastic paraplegia type 65; autosomal recessive spastic paraplegia 45 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 46	SPG46; autosomal recessive spastic paraplegia type.. [+] SPG46; autosomal recessive spastic paraplegia type 46; autosomal recessive spastic paraplegia 46 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. [-]
hereditary spastic paraplegia 47	spastic quadriplegic cerebral palsy 5; SPG47; auto.. [+] SPG47; spastic quadriplegic cerebral palsy 5; autosomal recessive spastic paraplegia 47; CPSQ5 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. [-]
hereditary spastic paraplegia 48	SPG48; autosomal recessive spastic paraplegia 48; .. [+] SPG48; autosomal recessive spastic paraplegia 48; autosomal recessive spastic paraplegia type 48 [-]	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. [-]
hereditary spastic paraplegia 49	SPG49; autosomal recessive spastic paraplegia type.. [+] SPG49; autosomal recessive spastic paraplegia type 49; autosomal recessive spastic paraplegia 49 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. [-]
hereditary spastic paraplegia 50	SPG50; spastic quadriplegic cerebral palsy 3; adap.. [+] spastic quadriplegic cerebral palsy 3; SPG50; adaptor protein complex 4 deficiency; AP-4 deficiency syndrome; AP-4-Associated Hereditary Spastic Paraplegia; CPSQ3; autosomal recessive spastic paraplegia 50 [-]	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. [-]
hereditary spastic paraplegia 51	spastic quadriplegic cerebral palsy 4; SPG51; auto.. [+] SPG51; spastic quadriplegic cerebral palsy 4; autosomal dominant spastic paraplegia 51; CPSQ4 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 52	spastic quadriplegic cerebral palsy 6; SPG52; auto.. [+] SPG52; spastic quadriplegic cerebral palsy 6; autosomal recessive spastic paraplegia 52; CPSQ6 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. [-]
hereditary spastic paraplegia 53	SPG53; autosomal recessive spastic paraplegia type.. [+] SPG53; autosomal recessive spastic paraplegia type 53; autosomal recessive spastic paraplegia 53 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. [-]
hereditary spastic paraplegia 54	SPG54; autosomal recessive spastic paraplegia 54; .. [+] SPG54; autosomal recessive spastic paraplegia 54; autosomal recessive spastic paraplegia type 54 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. [-]
hereditary spastic paraplegia 55	SPG55; autosomal recessive spastic paraplegia 55; .. [+] SPG55; autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. [-]
hereditary spastic paraplegia 56	SPG56; autosomal recessive spastic paraplegia type.. [+] SPG56; autosomal recessive spastic paraplegia type 56; autosomal recessive spastic paraplegia 56 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. [-]
hereditary spastic paraplegia 57	SPG57; autosomal recessive spastic paraplegia 57; .. [+] SPG57; autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. [-]
hereditary spastic paraplegia 5A	SPG5A; autosomal recessive spastic paraplegia 5A; .. [+] SPG5A; autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A [-]	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. [-]
hereditary spastic paraplegia 6	SPG6; autosomal dominant familial spastic parapleg.. [+] SPG6; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; FSP3; autosomal dominant spastic paraplegia type 6 [-]	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. [-]	1 articles
hereditary spastic paraplegia 61	SPG61; autosomal recessive spastic paraplegia 61; .. [+] SPG61; autosomal recessive spastic paraplegia 61; autosomal recessive spastic paraplegia type 61 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. [-]
hereditary spastic paraplegia 62	SPG62; autosomal recessive spastic paraplegia 62; .. [+] SPG62; autosomal recessive spastic paraplegia 62; autosomal recessive spastic paraplegia type 62 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 63	SPG63; spastic paraplegia 63; autosomal recessive .. [+] spastic paraplegia 63; SPG63; autosomal recessive spastic paraplegia 63 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. [-]
hereditary spastic paraplegia 64	SPG64; autosomal recessive spastic paraplegia 64; .. [+] SPG64; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 7	SPG7; spastic paraplegia type 7; autosomal recessi.. [+] spastic paraplegia type 7; SPG7; autosomal recessive spastic paraplegia 7 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. [-]
hereditary spastic paraplegia 72A	SPG72; autosomal spastic paraplegia type 72	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. [-]
hereditary spastic paraplegia 73	SPG73; autosomal dominant spastic paraplegia type .. [+] SPG73; autosomal dominant spastic paraplegia type 73; autosomal dominant spastic paraplegia 73 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. [-]
hereditary spastic paraplegia 74	SPG74; autosomal recessive spastic paraplegia 74	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. [-]
hereditary spastic paraplegia 75	SPG75; autosomal recessive spastic paraplegia 75; .. [+] SPG75; autosomal recessive spastic paraplegia 75; autosomal recessive spastic paraplegia type 75 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. [-]
hereditary spastic paraplegia 76	SPG76; autosomal recessive spastic paraplegia 76	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. [-]
hereditary spastic paraplegia 77	SPG77; autosomal recessive spastic paraplegia 77	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. [-]
hereditary spastic paraplegia 8	SPG8; autosomal dominant spastic paraplegia 8; aut.. [+] SPG8; autosomal dominant spastic paraplegia 8; autosomal dominant spastic paraplegia type 8 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. [-]
hereditary spastic paraplegia 9A	spastic paraparesis-amyopathy-cataracts-gastroesop.. [+] spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; SPG9A; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; AD-SPG9A; cataracts with motor neuronopathy, short stature and skeletal abnormalities; autosomal dominant spastic paraplegia 9A; autosomal dominant complex spastic paraplegia type 9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 9B	SPG9B; autosomal recessive complex spastic paraple.. [+] SPG9B; autosomal recessive complex spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spherocytosis type 1	SPH1; hereditary spherocytosis 1; HS1	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. [-]
hereditary spherocytosis type 2	SPH2; hereditary spherocytosis 2; HS2	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. [-]
hereditary spherocytosis type 3	SPH3; hereditary spherocytosis 3; HS3	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. [-]
hereditary spherocytosis type 4	SPH4; hereditary spherocytosis 4; HS4	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. [-]
hereditary spherocytosis type 5	SPH5; HS5; hereditary spherocytosis 5	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. [-]
Mononen-Karnes-Senac syndrome	short and abducted thumbs and great toes; Mononen .. [+] short and abducted thumbs and great toes; Mononen type brachydactyly [-]	A brachydactyly characterized by short, abducted t..[+] A brachydactyly characterized by short, abducted thumbs and great toes. [-]
hemochromatosis type 1	symptomatic form of HFE-related hereditary hemochr.. [+] symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of classic hemochromatosis; symptomatic form of hemochromatosis type 1; HFE1 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. [-]
platelet-type bleeding disorder 19	severe autosomal recessive macrothrombocytopenia; .. [+] severe autosomal recessive macrothrombocytopenia; BDPLT19 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. [-]
autosomal recessive distal hereditary motor neuronopathy 1	spinal muscular atrophy with respiratory distress .. [+] spinal muscular atrophy with respiratory distress type 1; SMARD1; SIANRF; severe infantile axonal neuropathy with respiratory failure type 1; DSMA1; autosomal recessive distal spinal muscular atrophy 1; distal spinal muscular atrophy 1; autosomal recessive spinal muscular atrophy with respiratory distress; dHMN6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuropathy type 6; distal-HMN type 6 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
autosomal recessive distal hereditary motor neuronopathy 2	spinal muscular atrophy Jerash type; dHMNJ; autoso.. [+] spinal muscular atrophy Jerash type; dHMNJ; autosomal recessive distal spinal muscular atrophy 2; distal spinal muscular atrophy 2; distal hereditary motor neuropathy Jerash type; DSMA2 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. [-]
postural orthostatic tachycardia syndrome	soldiers heart; neurocirculatory asthenia; familia.. [+] soldiers heart; neurocirculatory asthenia; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]

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