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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6300&ordering=synonyms",
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"results": [
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1.",
"acronym": "PFBMFT1.",
"accession": "DI-03500",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ",
"keywords": null
},
{
"identifier": "Pulmonary alveolar microlithiasis.",
"acronym": "PULAM.",
"accession": "DI-02232",
"synonyms": null,
"cross_references": "MedGen; C0155912.",
"definition": "Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm- appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. ",
"keywords": null
},
{
"identifier": "Psoriasis 15, pustular.",
"acronym": "PSORS15.",
"accession": "DI-04277",
"synonyms": null,
"cross_references": "MeSH; D011565.",
"definition": "A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high- grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. ",
"keywords": null
},
{
"identifier": "Pseudohypoparathyroidism 1C.",
"acronym": "PHP1C.",
"accession": "DI-02818",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. ",
"keywords": null
},
{
"identifier": "Spondylometaphyseal dysplasia with cone-rod dystrophy.",
"acronym": "SMDCRD.",
"accession": "DI-04061",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "An autosomal recessive disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia with corneal dystrophy.",
"acronym": "SMDCD.",
"accession": "DI-05885",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, axial.",
"acronym": "SMDAX.",
"accession": "DI-05025",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pseudohypoparathyroidism 1B.",
"acronym": "PHP1B.",
"accession": "DI-02817",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 2D.",
"acronym": "PHA2D.",
"accession": "DI-03366",
"synonyms": null,
"cross_references": "MeSH; D011546.",
"definition": "A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Spondylometaphyseal dysplasia, Pagnamenta type.",
"acronym": "SMDP.",
"accession": "DI-06277",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pseudohypoaldosteronism 2C.",
"acronym": "PHA2C.",
"accession": "DI-02228",
"synonyms": null,
"cross_references": "MeSH; D011546.",
"definition": "An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics. ",
"keywords": null
},
{
"identifier": "Spongiform encephalopathy with neuropsychiatric features.",
"acronym": "SENF.",
"accession": "DI-02210",
"synonyms": null,
"cross_references": "MedGen; C1847650.",
"definition": "Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 2B.",
"acronym": "PHA2B.",
"accession": "DI-03368",
"synonyms": null,
"cross_references": "MeSH; D011546.",
"definition": "An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. ",
"keywords": null
},
{
"identifier": "Squamous cell carcinoma of the head and neck.",
"acronym": "HNSCC.",
"accession": "DI-01696",
"synonyms": null,
"cross_references": "MeSH; D002294.",
"definition": "A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. ",
"keywords": null
},
{
"identifier": "Stankiewicz-Isidor syndrome.",
"acronym": "STISS.",
"accession": "DI-05014",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Pseudo-TORCH syndrome 3.",
"acronym": "PTORCH3.",
"accession": "DI-05844",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common. ",
"keywords": null
},
{
"identifier": "Pseudo-TORCH syndrome 2.",
"acronym": "PTORCH2.",
"accession": "DI-04973",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. ",
"keywords": null
},
{
"identifier": "Protoporphyria, erythropoietic, 2.",
"acronym": "EPP2.",
"accession": "DI-05274",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "An autosomal dominant form of porphyria with onset in infancy. 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. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. ",
"keywords": null
},
{
"identifier": "Stargardt disease 4.",
"acronym": "STGD4.",
"accession": "DI-01086",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Steatocystoma multiplex.",
"acronym": "SM.",
"accession": "DI-02341",
"synonyms": null,
"cross_references": "MedGen; C0259771.",
"definition": "Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. ",
"keywords": null
}
]
}