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=5360",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5320",
"results": [
{
"identifier": "Polycystic liver disease 2 with or without kidney cysts.",
"acronym": "PCLD2.",
"accession": "DI-04751",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. ",
"keywords": null
},
{
"identifier": "Polycystic liver disease 3 with or without kidney cysts.",
"acronym": "PCLD3.",
"accession": "DI-05194",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. ",
"keywords": null
},
{
"identifier": "Polycystic liver disease 4 with or without kidney cysts.",
"acronym": "PCLD4.",
"accession": "DI-05195",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. ",
"keywords": null
},
{
"identifier": "Polycystic lung disease.",
"acronym": "PCLUD.",
"accession": "DI-06872",
"synonyms": "Cystic disease of lung.; ",
"cross_references": "MeSH; D008171.",
"definition": "An autosomal recessive disease characterized by pulmonary alveolar proteinosis, marked peribronchovascular and parenchymal lymphocytosis, peribronchiolar pulmonary fibrosis, progressive diffuse parenchymal lung cyst formation and enlargement, progressive obstructive airflow limitation, and recurrent secondary infections. Additional features may include digital clubbing, allergies, and atopic dermatitis. ",
"keywords": null
},
{
"identifier": "Polycythemia vera.",
"acronym": "PV.",
"accession": "DI-02712",
"synonyms": "Osler-Vaquez disease.; Polycythemia rubra vera.; PRV.; ",
"cross_references": "MeSH; D011087.",
"definition": "A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. ",
"keywords": null
},
{
"identifier": "Polydactyly-macrocephaly syndrome.",
"acronym": "PDMCS.",
"accession": "DI-06845",
"synonyms": null,
"cross_references": "MeSH; D058627.",
"definition": "An autosomal dominant syndrome characterized by progressive macrocephaly and post-axial polydactyly, a condition defined by the occurrence of supernumerary digits affecting the fifth finger and/or toe. Additional variable features include ocular anomalies, global developmental delay and autistic traits. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial A1.",
"acronym": "PAPA1.",
"accession": "DI-02397",
"synonyms": "PAPA.; Postaxial polydactyly.; Postaxial polydactyly type A.; ",
"cross_references": "MeSH; D017689.",
"definition": "A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial, A10.",
"acronym": "PAPA10.",
"accession": "DI-05613",
"synonyms": null,
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is an autosomal recessive condition characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial A6.",
"acronym": "PAPA6.",
"accession": "DI-03746",
"synonyms": null,
"cross_references": "MeSH; D017689.",
"definition": "A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial, A7.",
"acronym": "PAPA7.",
"accession": "DI-05052",
"synonyms": "Polydactyly, postaxial, type A7.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial, A8.",
"acronym": "PAPA8.",
"accession": "DI-05336",
"synonyms": "Polydactyly, postaxial, type A8.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial, A9.",
"acronym": "PAPA9.",
"accession": "DI-05433",
"synonyms": null,
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial B.",
"acronym": "PAPB.",
"accession": "DI-03100",
"synonyms": null,
"cross_references": "MeSH; D017689.",
"definition": "A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin. ",
"keywords": null
},
{
"identifier": "Polydactyly, preaxial 1.",
"acronym": "PPD1.",
"accession": "DI-05578",
"synonyms": "Polydactyly, preaxial I.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. ",
"keywords": null
},
{
"identifier": "Polydactyly, preaxial 4.",
"acronym": "PPD4.",
"accession": "DI-02401",
"synonyms": "Polysyndactyly, uncomplicated.; Type IV preaxial polydactyly.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement. ",
"keywords": null
},
{
"identifier": "Polyendocrine-polyneuropathy syndrome.",
"acronym": "PEPNS.",
"accession": "DI-04291",
"synonyms": null,
"cross_references": "MeSH; D011115.",
"definition": "A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0622:Neuropathy.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"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": "Polyglucosan body myopathy 2.",
"acronym": "PGBM2.",
"accession": "DI-04312",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Polyglucosan body neuropathy, adult form.",
"acronym": "APBN.",
"accession": "DI-00052",
"synonyms": "Adult polyglucosan body disease.; APBD.; Polyglucosan body disease, adult form.; ",
"cross_references": "MeSH; D009422.",
"definition": "A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Polymicrogyria, bilateral temporooccipital.",
"acronym": "BTOP.",
"accession": "DI-04237",
"synonyms": null,
"cross_references": "MeSH; D065706.",
"definition": "A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy. ",
"keywords": null
}
]
}