HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5240",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5200",
"results": [
{
"identifier": "Periventricular nodular heterotopia 7.",
"acronym": "PVNH7.",
"accession": "DI-04867",
"synonyms": null,
"cross_references": "MeSH; D054091.",
"definition": "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 8.",
"acronym": "PVNH8.",
"accession": "DI-05385",
"synonyms": null,
"cross_references": "MeSH; D054091.",
"definition": "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit- hyperactivity disorder. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 9.",
"acronym": "PVNH9.",
"accession": "DI-05862",
"synonyms": null,
"cross_references": "MeSH; D054091.",
"definition": "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH9 is an autosomal dominant disorder with incomplete penetrance, characterized by impaired intellectual development, cognitive defects, learning disabilities, and behavior abnormalities. Some patients develop seizures. ",
"keywords": null
},
{
"identifier": "Perlman syndrome.",
"acronym": "PRLMNS.",
"accession": "DI-03413",
"synonyms": "Nephroblastomatosis fetal ascites macrosomia and Wilms tumor.; Renal hamartomas nephroblastomatosis and fetal gigantism.; ",
"cross_references": "MeSH; D007680.",
"definition": "An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor. ",
"keywords": null
},
{
"identifier": "Peroxisomal fatty acyl-CoA reductase 1 disorder.",
"acronym": "PFCRD.",
"accession": "DI-04305",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Peroxisome biogenesis disorder 10A.",
"acronym": "PBD10A.",
"accession": "DI-03592",
"synonyms": "Peroxisome biogenesis disorder 10A (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 10B.",
"acronym": "PBD10B.",
"accession": "DI-04964",
"synonyms": null,
"cross_references": "MeSH; D052919.",
"definition": "A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder 11A.",
"acronym": "PBD11A.",
"accession": "DI-03593",
"synonyms": "Peroxisome biogenesis disorder 11A (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 11B.",
"acronym": "PBD11B.",
"accession": "DI-03594",
"synonyms": "Peroxisome biogenesis disorder 11B (NALD/IRD).; Peroxisome biogenesis disorder 11B (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 12A.",
"acronym": "PBD12A.",
"accession": "DI-03595",
"synonyms": "Peroxisome biogenesis disorder 12A (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 13A.",
"acronym": "PBD13A.",
"accession": "DI-03596",
"synonyms": "Peroxisome biogenesis disorder 13A (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 14B.",
"acronym": "PBD14B.",
"accession": "DI-03597",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder 1A.",
"acronym": "PBD1A.",
"accession": "DI-00800",
"synonyms": "Cerebrohepatorenal syndrome.; Cerebro-hepato-renal syndrome.; CHR syndrome.; Peroxisome biogenesis disorder 1A (Zellweger).; Zellweger's syndrome.; Zellweger syndrome.; ZS.; ZWS.; ",
"cross_references": "MeSH; D015211.",
"definition": "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically 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 1B.",
"acronym": "PBD1B.",
"accession": "DI-03577",
"synonyms": "Autosomal neonatal adrenoleukodystrophy.; Infantile phytanic acid storage disease.; Infantile Refsum disease.; Peroxisome biogenesis disorder (NALD/IRD).; Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease).; Peroxisome biogenesis disorder 1B (NALD/IRD).; ",
"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 2A.",
"acronym": "PBD2A.",
"accession": "DI-03579",
"synonyms": "Peroxisome biogenesis disorder 2A (Zellweger).; ",
"cross_references": "MeSH; D015211.",
"definition": "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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 2B.",
"acronym": "PBD2B.",
"accession": "DI-00048",
"synonyms": "Peroxisome biogenesis disorder 2B (NALD/IRD).; Peroxisome biogenesis disorder 2B (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 3A.",
"acronym": "PBD3A.",
"accession": "DI-03580",
"synonyms": "Peroxisome biogenesis disorder 3A (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 3B.",
"acronym": "PBD3B.",
"accession": "DI-00598",
"synonyms": "Peroxisome biogenesis disorder 3B (NALD/IRD).; Peroxisome biogenesis disorder 3B (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 4A.",
"acronym": "PBD4A.",
"accession": "DI-03581",
"synonyms": "Peroxisome biogenesis disorder 4A (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 4B.",
"acronym": "PBD4B.",
"accession": "DI-03582",
"synonyms": "Peroxisome biogenesis disorder 4B (NALD/IRD).; Peroxisome biogenesis disorder 4B (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.; "
}
]
}