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Disease	Synonyms	Description	Articles
hereditary spastic paraplegia 56	autosomal recessive spastic paraplegia 56; autosom.. [+] autosomal recessive spastic paraplegia 56; autosomal recessive spastic paraplegia type 56; SPG56 [-]	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	autosomal recessive spastic paraplegia 57; autosom.. [+] autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57; SPG57 [-]	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	autosomal recessive spastic paraplegia 5A; autosom.. [+] autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A; SPG5A [-]	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	autosomal dominant familial spastic paraplegia typ.. [+] autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; FSP3; SPG6; 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	autosomal recessive spastic paraplegia 61; SPG61; .. [+] autosomal recessive spastic paraplegia 61; SPG61; 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	autosomal recessive spastic paraplegia 62; autosom.. [+] autosomal recessive spastic paraplegia 62; autosomal recessive spastic paraplegia type 62; SPG62 [-]	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	autosomal recessive spastic paraplegia 63; SPG63; .. [+] autosomal recessive spastic paraplegia 63; SPG63; 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	autosomal recessive spastic paraplegia 64; autosom.. [+] autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64; SPG64 [-]	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	autosomal recessive spastic paraplegia 7; SPG7; sp.. [+] autosomal recessive spastic paraplegia 7; SPG7; spastic paraplegia type 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	autosomal spastic paraplegia type 72; SPG72	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	autosomal dominant spastic paraplegia type 73; SPG.. [+] autosomal dominant spastic paraplegia type 73; SPG73; 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	autosomal recessive spastic paraplegia 74; SPG74	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	autosomal recessive spastic paraplegia 75; SPG75; .. [+] autosomal recessive spastic paraplegia 75; SPG75; 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	autosomal recessive spastic paraplegia 76; SPG76	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	autosomal recessive spastic paraplegia 77; SPG77	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	autosomal dominant spastic paraplegia 8; SPG8; aut.. [+] autosomal dominant spastic paraplegia 8; SPG8; 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	AD-SPG9A; autosomal dominant complex spastic parap.. [+] AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; cataracts with motor neuronopathy, short stature and skeletal abnormalities; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; SPG9A; autosomal dominant spastic paraplegia 9A; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux 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	autosomal recessive complex spastic paraplegia typ.. [+] autosomal recessive complex spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B; SPG9B [-]	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. [-]
holoprosencephaly 2	HPE2	A holoprosencephaly that has_material_basis_in mut..[+] A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. [-]
holoprosencephaly 9	holoprosencephaly with microphthalmia and first br.. [+] holoprosencephaly with microphthalmia and first branchial arch anomalies; HPE9; pituitary anomalies with holoprosencephaly-like features [-]	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. [-]	1 articles
holoprosencephaly 6	HPE6	A holoprosencephaly that has_material_basis_in var..[+] A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. [-]
holoprosencephaly 3	HPE3; HLP3	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. [-]
holoprosencephaly 7	HPE7	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. [-]
holoprosencephaly 11	HPE11	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. [-]
holoprosencephaly 5	HPE5	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. [-]	1 articles
holoprosencephaly 8	HPE8	A holoprosencephaly that has_material_basis_in var..[+] A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. [-]
holoprosencephaly 4	HPE4	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. [-]
holoprosencephaly 1	HPE1	A holoprosencephaly that has_material_basis_in var..[+] A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. [-]
hereditary spherocytosis type 1	HS1; hereditary spherocytosis 1; SPH1	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	HS2; hereditary spherocytosis 2; SPH2	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	HS3; hereditary spherocytosis 3; SPH3	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	HS4; hereditary spherocytosis 4; SPH4	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	HS5; hereditary spherocytosis 5; SPH5	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. [-]
hemochromatosis type 2A	HFE2A	A hemochromatosis type 2 that has_material_basis_i..[+] A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. [-]
hemochromatosis type 4	HFE4; hemochromatosis due to defect in ferroportin.. [+] HFE4; hemochromatosis due to defect in ferroportin; autosomal dominant hereditary hemochromatosis; ferroportin disease [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. [-]
hemochromatosis type 1	HFE1; symptomatic form of classic hemochromatosis; .. [+] HFE1; symptomatic form of classic hemochromatosis; symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of hemochromatosis type 1 [-]	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. [-]
hemochromatosis type 3	HFE3; hemochromatosis due to defect in transferrin.. [+] HFE3; hemochromatosis due to defect in transferrin receptor 2; TFR2-related hemochromatosis [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. [-]
hemochromatosis type 5	HFE5; FTH1-related iron overload; FTH1-associated .. [+] HFE5; FTH1-related iron overload; FTH1-associated iron overload [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. [-]
hemochromatosis type 2B	HFE2B	A hemochromatosis type 2 that has_material_basis_i..[+] A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. [-]
hemochromatosis type 2	HFE2; JHH; juvenile hemochromatosis	hypogonadotropic hypogonadism, cardiomyopathy, art..[+] A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. [-]
hypermethioninemia due to adenosine kinase deficiency	hypermethioninemia encephalopathy due to ADK defic.. [+] hypermethioninemia encephalopathy due to ADK deficiency; hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK hypermethioninemia; autosomal recessive mental retardation 8; MRT8 [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. [-]
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	hypermethioninemia due to S-adenosylhomocysteine h.. [+] hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. [-]
hyperphosphatemic familial tumoral calcinosis	hyperphosphatemia tumoral calcinosis; hyperostosis.. [+] hyperphosphatemia tumoral calcinosis; hyperostosis with hyperphosphatemia; HFTC; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia hyperostosis; hypercalcemic tumoral calcinosis; HHS; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; lipocalcinogranulomatosis; 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. [-]
hypertension and brachydactyly syndrome	HTNB; Bilginturan brachydactyly; Bilginturan syndr.. [+] HTNB; Bilginturan brachydactyly; Bilginturan syndrome; brachydactyly with hypertension; type E brachydactyly with short stature and hypertension [-]	A syndrome characterized by brachydactyly type E, ..[+] A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. [-]
hyperferritinemia-cataract syndrome	hyperferritinemia with or without cataract; HRFTC; .. [+] HRFTC; hyperferritinemia with or without cataract; HHCS; hereditary hyperferritinemia-cataract syndrome; hereditary hyperferritinemia with congenital cataracts; Bonneau-Beaumont syndrome; cataract-hyperferritinemia syndrome [-]	A syndrome characterized by elevated circulating l..[+] A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. [-]
hyaline body myopathy	myosin storage myopathy	A congenital myopathy characterized by accumulatio..[+] A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. [-]
histiocytosis-lymphadenopathy plus syndrome	HJCD; histiocytosis with joint contractures and se.. [+] HJCD; histiocytosis with joint contractures and sensorineural deafness; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; H syndrome; Faisalabad histiocytosis; familial Rosai-Dorfman disease; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; SHML; sinus histiocytosis and massive lymphadenopathy; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Rosai–Dorfman disease [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
hereditary desmoid disease	familial infiltrative fibromatosis; FIF	A syndrome characterized by extraintestinal manife..[+] A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. [-]	1 articles
hydrolethalus syndrome 1	HLS1	A hydrolethalus syndrome that has_material_basis_i..[+] A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. [-]
hydrolethalus syndrome 2	HLS2	A hydrolethalus syndrome that has_material_basis_i..[+] A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. [-]

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