Human Disease List
GET /api/human_diseases/?format=api&offset=1360&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1380&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1340&ordering=-identifier", "results": [ { "identifier": "Polyposis syndrome, mixed hereditary 1.", "acronym": "HMPS1.", "accession": "DI-03478", "synonyms": "Colorectal adenoma and carcinoma 1.; CRAC1.; ", "cross_references": "MeSH; D018256.", "definition": "A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features. ", "keywords": null }, { "identifier": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.", "acronym": "PHARC.", "accession": "DI-02920", "synonyms": null, "cross_references": "MeSH; D015417.", "definition": "A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. ", "keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0682:Retinitis pigmentosa.; KW-0898:Cataract.; " }, { "identifier": "Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.", "acronym": "PMGEDSV.", "accession": "DI-05505", "synonyms": "Polymicrogyria with or without vascular-type EDS.; ", "cross_references": "MeSH; D065706.", "definition": "An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "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 }, { "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": "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 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": "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": "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": "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, 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, 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, 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, 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 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, 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 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-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": "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": "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 } ] }