{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5260&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5220&ordering=identifier","results":[{"identifier":"Peroxisome biogenesis disorder 5A.","acronym":"PBD5A.","accession":"DI-03583","synonyms":"Peroxisome biogenesis disorder 5A (Zellweger).; ","cross_references":"MeSH; D015211.","definition":"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. ","keywords":"KW-0861:Zellweger syndrome.; "},{"identifier":"Peroxisome biogenesis disorder 5B.","acronym":"PBD5B.","accession":"DI-03584","synonyms":"Peroxisome biogenesis disorder 5B (NALD/IRD).; Peroxisome biogenesis disorder 5B (neonatal adrenoleukodystrophy/infantile Refsum disease).; ","cross_references":"MeSH; D052919.","definition":"A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder 6A.","acronym":"PBD6A.","accession":"DI-03585","synonyms":"Peroxisome biogenesis disorder 6A (Zellweger).; ","cross_references":"MeSH; D015211.","definition":"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. ","keywords":"KW-0861:Zellweger syndrome.; "},{"identifier":"Peroxisome biogenesis disorder 6B.","acronym":"PBD6B.","accession":"DI-03586","synonyms":"Peroxisome biogenesis disorder 6B (NALD/IRD).; Peroxisome biogenesis disorder 6B (neonatal adrenoleukodystrophy/infantile Refsum disease).; ","cross_references":"MeSH; D052919.","definition":"A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder 7A.","acronym":"PBD7A.","accession":"DI-03587","synonyms":"Peroxisome biogenesis disorder 7A (Zellweger).; ","cross_references":"MeSH; D015211.","definition":"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. ","keywords":"KW-0861:Zellweger syndrome.; "},{"identifier":"Peroxisome biogenesis disorder 7B.","acronym":"PBD7B.","accession":"DI-03588","synonyms":"Peroxisome biogenesis disorder 7B (NALD/IRD).; Peroxisome biogenesis disorder 7B (neonatal adrenoleukodystrophy/infantile Refsum disease).; ","cross_references":"MeSH; D052919.","definition":"A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder 8A.","acronym":"PBD8A.","accession":"DI-03589","synonyms":"Peroxisome biogenesis disorder 8A (Zellweger).; ","cross_references":"MeSH; D015211.","definition":"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. ","keywords":"KW-0861:Zellweger syndrome.; "},{"identifier":"Peroxisome biogenesis disorder 8B.","acronym":"PBD8B.","accession":"DI-03590","synonyms":null,"cross_references":"MeSH; D018901.","definition":"A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long- chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder 9B.","acronym":"PBD9B.","accession":"DI-03591","synonyms":"Atypical peroxisome biogenesis disorder PEX7-related.; Refsum disease adult 2.; ","cross_references":"MeSH; D012035.","definition":"A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 1.","acronym":"PBD-CG1.","accession":"DI-00913","synonyms":"CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 11.","acronym":"PBD-CG11.","accession":"DI-00920","synonyms":"CG11.; PBD-CGR.; Peroxisome biogenesis disorder complementation group R.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 12.","acronym":"PBD-CG12.","accession":"DI-00921","synonyms":"CG12.; PBD-CGG.; Peroxisome biogenesis disorder complementation group G.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 13.","acronym":"PBD-CG13.","accession":"DI-02153","synonyms":"CG13.; PBD-CGH.; Peroxisome biogenesis disorder complementation group H.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 14.","acronym":"PBD-CG14.","accession":"DI-00922","synonyms":"CG14.; PBD-CGJ.; Peroxisome biogenesis disorder complementation group J.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 2.","acronym":"PBD-CG2.","accession":"DI-03578","synonyms":"CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 3.","acronym":"PBD-CG3.","accession":"DI-00914","synonyms":"CG3.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 4.","acronym":"PBD-CG4.","accession":"DI-00915","synonyms":"CG4.; PBD-CG6.; PBD-CGC.; Peroxisome biogenesis disorder complementation group 6.; Peroxisome biogenesis disorder complementation group C.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 5.","acronym":"PBD-CG5.","accession":"DI-00916","synonyms":"CG5.; PBD-CG10.; PBD-CGF.; Peroxisome biogenesis disorder complementation group 10.; Peroxisome biogenesis disorder complementation group F.; Zellweger syndrome 3.; ZWS3.; ","cross_references":"MeSH; D015211.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 7.","acronym":"PBD-CG7.","accession":"DI-00917","synonyms":"CG7.; PBD-CGB.; Peroxisome biogenesis disorder complementation group B.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 8.","acronym":"PBD-CG8.","accession":"DI-00918","synonyms":"CG8.; PBD-CGA.; Peroxisome biogenesis disorder complementation group A.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "}]}