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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5160&ordering=identifier",
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"results": [
{
"identifier": "Pancreatitis, hereditary.",
"acronym": "PCTT.",
"accession": "DI-01731",
"synonyms": "Chronic pancreatitis.; CP.; HP.; HPC.; ",
"cross_references": "MeSH; D010195.",
"definition": "A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. ",
"keywords": null
},
{
"identifier": "Panhypopituitarism X-linked.",
"acronym": "PHPX.",
"accession": "DI-02125",
"synonyms": null,
"cross_references": "MedGen; C0342376.",
"definition": "Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. ",
"keywords": null
},
{
"identifier": "PAPA syndrome.",
"acronym": "PAPAS.",
"accession": "DI-02127",
"synonyms": "Familial recurrent arthritis.; FRA.; Pyogenic sterile arthritis, pyoderma gangrenosum and acne.; ",
"cross_references": "MedGen; C1858361.",
"definition": "Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction. ",
"keywords": null
},
{
"identifier": "Papilloma of choroid plexus.",
"acronym": "CPP.",
"accession": "DI-01346",
"synonyms": "Choroid plexus papilloma.; ",
"cross_references": "MeSH; D020288.",
"definition": "A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures. ",
"keywords": null
},
{
"identifier": "Papillon-Lefevre syndrome.",
"acronym": "PLS.",
"accession": "DI-00900",
"synonyms": "Keratosis palmoplantaris with periodontopathia.; PALS.; ",
"cross_references": "MeSH; D010214.",
"definition": "An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Papillorenal syndrome.",
"acronym": "PAPRS.",
"accession": "DI-02258",
"synonyms": "CAKUT with or without ocular abnormalities.; Coloboma of optic nerve with renal disease.; Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities.; Optic coloboma vesicoureteral reflux and renal anomalies.; Optic nerve coloboma with renal disease.; Renal-coloboma syndrome.; Renal-coloboma syndrome with macular abnormalities.; ",
"cross_references": "MeSH; D051437.",
"definition": "An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Paraganglioma and gastric stromal sarcoma.",
"acronym": "PGGSS.",
"accession": "DI-02128",
"synonyms": "Carney-Stratakis syndrome.; Paraganglioma and gastrointestinal stromal tumor.; ",
"cross_references": "MedGen; C1847319.",
"definition": "Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Paramyotonia congenita.",
"acronym": "PMC.",
"accession": "DI-00901",
"synonyms": "Paralysis periodica paramyotonia.; Paralysis periodica paramyotonica.; Paramyotonia congenita of von Eulenburg.; Paramyotonia congenita without cold paralysis.; ",
"cross_references": "MeSH; D020967.",
"definition": "An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP. ",
"keywords": null
},
{
"identifier": "Parastremmatic dwarfism.",
"acronym": "PSTD.",
"accession": "DI-02970",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Parathyroid carcinoma.",
"acronym": "PRTC.",
"accession": "DI-02129",
"synonyms": null,
"cross_references": "MedGen; C0687150.",
"definition": "These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment. ",
"keywords": null
},
{
"identifier": "Parenti-Mignot neurodevelopmental syndrome.",
"acronym": "PMNDS.",
"accession": "DI-06423",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Parietal foramina 1.",
"acronym": "PFM1.",
"accession": "DI-02130",
"synonyms": "Catlin marks.; Cranium bifidum, hereditary.; Cranium bifidum occultum.; Enlarged parietal foramina.; Foramina parietalia permagna.; FPP.; Parietal foramina, symmetric.; PFM.; ",
"cross_references": "MeSH; D004677.",
"definition": "Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. ",
"keywords": null
},
{
"identifier": "Parietal foramina 2.",
"acronym": "PFM2.",
"accession": "DI-02131",
"synonyms": "Foramina parietalia permagna.; FPP.; ",
"cross_references": "MedGen; C1865044.",
"definition": "Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. ",
"keywords": null
},
{
"identifier": "Parietal foramina with cleidocranial dysplasia.",
"acronym": "PFMCCD.",
"accession": "DI-02132",
"synonyms": "Cleidocranial dysplasia with parietal foramina.; ",
"cross_references": "MedGen; C1868597.",
"definition": "Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. ",
"keywords": null
},
{
"identifier": "Parkinson-dementia syndrome.",
"acronym": "PARDE.",
"accession": "DI-03096",
"synonyms": "Steele-Richardson-Olszewski syndrome atypical.; Supranuclear palsy progressive 1 atypical.; ",
"cross_references": "MeSH; D013494.",
"definition": "A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease.",
"acronym": "PARK.",
"accession": "DI-02134",
"synonyms": "Idiopathic Parkinson disease.; Late onset Parkinson disease.; Lewy body Parkinson disease.; Paralysis Agitans.; PD.; Primary Parkinsonism.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 11.",
"acronym": "PARK11.",
"accession": "DI-02137",
"synonyms": "Parkinson disease 11, autosomal dominant, susceptibility to.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 13.",
"acronym": "PARK13.",
"accession": "DI-02138",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 14.",
"acronym": "PARK14.",
"accession": "DI-02500",
"synonyms": "Dystonia-parkinsonism adult-onset.; Dystonia-parkinsonism Paisan-Ruiz type.; Parkinson disease 14 autosomal recessive.; ",
"cross_references": "MeSH; D020734.",
"definition": "An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Parkinson disease 15.",
"acronym": "PARK15.",
"accession": "DI-02139",
"synonyms": "Pallidopyramidal syndrome.; Pallido-pyramidal syndrome.; Parkinson disease 15 autosomal recessive.; Parkinsonian-pyramidal syndrome.; PKPS.; PPS.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
}
]
}