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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5520",
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"results": [
{
"identifier": "Pseudohypoaldosteronism 1B1, autosomal recessive.",
"acronym": "PHA1B1.",
"accession": "DI-01255",
"synonyms": "Multisystem pseudohypoaldosteronism.; PHA type I, autosomal recessive.; Pseudohypoaldosteronism type I, autosomal recessive.; ",
"cross_references": "MeSH; D011546.",
"definition": "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 1B2, autosomal recessive.",
"acronym": "PHA1B2.",
"accession": "DI-06537",
"synonyms": "Pseudohypoaldosteronism, type IB2, autosomal recessive.; ",
"cross_references": "MeSH; D011546.",
"definition": "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 1B3, autosomal recessive.",
"acronym": "PHA1B3.",
"accession": "DI-06538",
"synonyms": "Pseudohypoaldosteronism, type IB3, autosomal recessive.; ",
"cross_references": "MeSH; D011546.",
"definition": "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ",
"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": "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": "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": "Pseudohypoaldosteronism 2E.",
"acronym": "PHA2E.",
"accession": "DI-03367",
"synonyms": null,
"cross_references": "MeSH; D011546.",
"definition": "An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. ",
"keywords": null
},
{
"identifier": "Pseudohypoparathyroidism 1A.",
"acronym": "PHP1A.",
"accession": "DI-02229",
"synonyms": "Albright hereditary osteodystrophy with multiple hormone resistance.; ",
"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": "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": "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": "Pseudo-TORCH syndrome 1.",
"acronym": "PTORCH1.",
"accession": "DI-02925",
"synonyms": "Band-like calcification with simplified gyration and polymicrogyria.; Baraitser Brett Piesowicz syndrome.; BLCPMG.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. ",
"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": "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": "Pseudovaginal perineoscrotal hypospadias.",
"acronym": "PPSH.",
"accession": "DI-02230",
"synonyms": "5-ARD deficiency.; Familial incomplete male pseudohermaphroditism type 2.; Male pseudohermaphroditism due to 5-alpha-reductase deficiency.; ",
"cross_references": "MeSH; D058490.",
"definition": "A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Pseudoxanthoma elasticum.",
"acronym": "PXE.",
"accession": "DI-00959",
"synonyms": "Gronblad-Strandberg syndrome.; Gronblad-Strandberg-Touraine syndrome.; ",
"cross_references": "MeSH; D011561.",
"definition": "A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. ",
"keywords": null
},
{
"identifier": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.",
"acronym": "PXEL-MCFD.",
"accession": "DI-02234",
"synonyms": "PXE-like disorder with multiple coagulation factor deficiency.; ",
"cross_references": "MedGen; C1835813.",
"definition": "Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyses revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. ",
"keywords": null
},
{
"identifier": "Psoriasis 1.",
"acronym": "PSORS1.",
"accession": "DI-02231",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 11.",
"acronym": "PSORS11.",
"accession": "DI-02669",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 13.",
"acronym": "PSORS13.",
"accession": "DI-03151",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 14, pustular.",
"acronym": "PSORS14.",
"accession": "DI-03262",
"synonyms": "Acrodermatitis continua of Hallopeau.; DITRA.; Generalized pustular psoriasis.; GPP.; Interleukin 36 receptor antagonist deficiency.; Palmoplantar pustulosis.; PSORP.; ",
"cross_references": "MeSH; D011565.",
"definition": "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
}
]
}