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=3140&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3100&ordering=synonyms",
"results": [
{
"identifier": "Polyglucosan body myopathy 1 with or without immunodeficiency.",
"acronym": "PGBM1.",
"accession": "DI-04157",
"synonyms": "PBMEI.; Polyglucosan body myopathy, early-onset, with or without immunodeficiency.; ",
"cross_references": "MeSH; D018908.",
"definition": "A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 2E.",
"acronym": "PCH2E.",
"accession": "DI-04128",
"synonyms": "PCCA2.; Progressive cerebello-cerebral atrophy type 2.; ",
"cross_references": "MeSH; D002526.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Pontocerebellar hypoplasia 2D.",
"acronym": "PCH2D.",
"accession": "DI-03066",
"synonyms": "PCCA.; Progressive cerebellocerebral atrophy.; Progressive cerebello-cerebral atrophy.; ",
"cross_references": "MeSH; D002526.",
"definition": "A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound intellectual disability, spasticity, and variable seizures. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Pontocerebellar hypoplasia 2A.",
"acronym": "PCH2A.",
"accession": "DI-02176",
"synonyms": "PCH2.; Pontocerebellar hypoplasia with progressive cerebral atrophy.; Volendam neurodegenerative disease.; ",
"cross_references": "MeSH; D002526.",
"definition": "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic.",
"acronym": "PCKDC.",
"accession": "DI-01470",
"synonyms": "PCK1 deficiency, cytosolic.; PEPCK deficiency, cytosolic.; ",
"cross_references": "MeSH; D002239.",
"definition": "An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. ",
"keywords": null
},
{
"identifier": "Familial porphyria cutanea tarda.",
"acronym": "FPCT.",
"accession": "DI-00497",
"synonyms": "PCT type II.; Porphyria cutanea tarda type II.; Porphyria hepatocutaneous type.; UROD deficiency.; Uroporphyrinogen decarboxylase deficiency.; ",
"cross_references": "MeSH; D017119.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. ",
"keywords": null
},
{
"identifier": "Epilepsy, early-onset, 4, vitamin B6-dependent.",
"acronym": "EPEO4.",
"accession": "DI-02236",
"synonyms": "PDE.; Pyridoxine-dependent epilepsy.; ",
"cross_references": "MeSH; D012640.",
"definition": "An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. ",
"keywords": null
},
{
"identifier": "Pyruvate dehydrogenase E1-beta deficiency.",
"acronym": "PDHBD.",
"accession": "DI-03205",
"synonyms": "PDH deficiency.; Pyruvate dehydrogenase deficiency.; ",
"cross_references": "MeSH; D015325.",
"definition": "An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. ",
"keywords": null
},
{
"identifier": "Hyperglycinemia, lactic acidosis, and seizures.",
"acronym": "HGCLAS.",
"accession": "DI-03379",
"synonyms": "PDHLD.; Pyruvate dehydrogenase lipoic acid synthetase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. ",
"keywords": null
},
{
"identifier": "PEHO-like syndrome.",
"acronym": "PEHOL.",
"accession": "DI-05012",
"synonyms": "PEHO syndrome-like.; ",
"cross_references": "MeSH; D013036.",
"definition": "An autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly.",
"acronym": "SKPHA.",
"accession": "DI-05279",
"synonyms": "Pelger-Huet anomaly with mild skeletal anomalies.; PHASK.; Regressive spondylometaphyseal dysplasia.; ",
"cross_references": "MeSH; D010381.",
"definition": "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Immunodeficiency 108 with autoinflammation.",
"acronym": "IMD108.",
"accession": "DI-06512",
"synonyms": "Pelger-Huet-like anomaly and episodic fever with abdominal pain.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies. ",
"keywords": null
},
{
"identifier": "Leukodystrophy, hypomyelinating, 2.",
"acronym": "HLD2.",
"accession": "DI-00649",
"synonyms": "Pelizaeus-Merzbacher-like disease autosomal recessive type 1.; Pelizaeus-Merzbacher-like disease type 1.; PMLD1.; PMLDAR1.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Premature aging syndrome, Penttinen type.",
"acronym": "PENTT.",
"accession": "DI-04566",
"synonyms": "Penttinen-Aula syndrome.; Penttinen syndrome.; ",
"cross_references": "MeSH; D030981.",
"definition": "A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. ",
"keywords": null
},
{
"identifier": "Periodic paralysis normokalemic.",
"acronym": "NKPP.",
"accession": "DI-00908",
"synonyms": "Periodic paralysis eukalemic.; ",
"cross_references": "MeSH; D020513.",
"definition": "A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness. ",
"keywords": null
},
{
"identifier": "Adrenoleukodystrophy, pseudoneonatal.",
"acronym": "Pseudo-NALD.",
"accession": "DI-00049",
"synonyms": "Peroxisomal acyl-CoA oxidase deficiency.; ",
"cross_references": "MeSH; D000326.",
"definition": "A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include intellectual disability, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. ",
"keywords": null
},
{
"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 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.; "
}
]
}