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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3580&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3540&ordering=-synonyms",
"results": [
{
"identifier": "TARP syndrome.",
"acronym": "TARPS.",
"accession": "DI-02837",
"synonyms": "Pierre Robin syndrome with congenital heart malformation and clubfoot.; Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava.; ",
"cross_references": "MeSH; D003025.",
"definition": "A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. ",
"keywords": null
},
{
"identifier": "Piebald trait.",
"acronym": "PBT.",
"accession": "DI-02164",
"synonyms": "Piebaldism.; ",
"cross_references": "MedGen; C0080024.",
"definition": "Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. ",
"keywords": null
},
{
"identifier": "Sitosterolemia 1.",
"acronym": "STSL1.",
"accession": "DI-02308",
"synonyms": "Phytosterolemia.; Shellfish sterolemia.; ",
"cross_references": "MeSH; D008052.",
"definition": "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal.",
"acronym": "PHRINL.",
"accession": "DI-05789",
"synonyms": "PHRINL syndrome.; ",
"cross_references": "MeSH; D002526.",
"definition": "An autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. ",
"keywords": null
},
{
"identifier": "Phosphoglycerate dehydrogenase deficiency.",
"acronym": "PHGDHD.",
"accession": "DI-02161",
"synonyms": "PHGDH deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 1, autosomal dominant.",
"acronym": "PHA1A.",
"accession": "DI-01224",
"synonyms": "PHA type I, autosomal dominant.; Pseudohypoaldosteronism type I, autosomal dominant.; ",
"cross_references": "MeSH; D011546.",
"definition": "A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. ",
"keywords": null
},
{
"identifier": "Phosphoglycerate kinase 1 deficiency.",
"acronym": "PGK1D.",
"accession": "DI-02753",
"synonyms": "PGK1 deficiency.; ",
"cross_references": "MeSH; D020739.",
"definition": "A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Persistent Muellerian duct syndrome 1.",
"acronym": "PMDS1.",
"accession": "DI-02155",
"synonyms": "Persistent Muellerian duct syndrome type I.; PMDS-1.; ",
"cross_references": "MedGen; C1849930.",
"definition": "A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. ",
"keywords": null
},
{
"identifier": "Persistent Muellerian duct syndrome 2.",
"acronym": "PMDS2.",
"accession": "DI-02156",
"synonyms": "Persistent Muellerian duct syndrome type II.; PMDS-2.; ",
"cross_references": "MedGen; C1849930.",
"definition": "A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. ",
"keywords": null
},
{
"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 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 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 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 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 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 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 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.; "
},
{
"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 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 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.; "
}
]
}