Human Disease List
GET /api/human_diseases/?format=api&offset=1580&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1600&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1560&ordering=-identifier", "results": [ { "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": "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": "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": "Pancreatic lipase deficiency.", "acronym": "PNLIPD.", "accession": "DI-05008", "synonyms": "Congenital absence of pancreatic lipase.; PL deficiency.; ", "cross_references": "MeSH; D008052.", "definition": "An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity. ", "keywords": null }, { "identifier": "Pancreatic cancer 5.", "acronym": "PNCA5.", "accession": "DI-05686", "synonyms": null, "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic cancer 4.", "acronym": "PNCA4.", "accession": "DI-03281", "synonyms": null, "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic cancer 3.", "acronym": "PNCA3.", "accession": "DI-02848", "synonyms": null, "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic cancer 2.", "acronym": "PNCA2.", "accession": "DI-02847", "synonyms": null, "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic cancer 1.", "acronym": "PNCA1.", "accession": "DI-02849", "synonyms": null, "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic cancer.", "acronym": "PNCA.", "accession": "DI-02124", "synonyms": "Pancreatic acinar carcinoma.; Pancreatic carcinoma.; ", "cross_references": "MeSH; D010190.", "definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ", "keywords": null }, { "identifier": "Pancreatic and cerebellar agenesis.", "acronym": "PACA.", "accession": "DI-01484", "synonyms": "Diabetes mellitus and cerebellar hypoplasia/agenesis.; Permanent neonatal diabetes mellitus with cerebellar agenesis.; ", "cross_references": "MeSH; D003920.", "definition": "A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features. ", "keywords": "KW-0219:Diabetes mellitus.; " }, { "identifier": "Pancreatic agenesis and congenital heart defects.", "acronym": "PACHD.", "accession": "DI-03371", "synonyms": "Congenital pancreatic agenesis with diabetes mellitus and congenital heart disease.; HDCA.; Heart defects, congenital, and other congenital anomalies.; ", "cross_references": "MeSH; D006330.", "definition": "An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. ", "keywords": null }, { "identifier": "Pancreatic agenesis 2.", "acronym": "PAGEN2.", "accession": "DI-04182", "synonyms": "Congenital pancreatic hypoplasia 2.; ", "cross_references": "MeSH; D010188.", "definition": "A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency. ", "keywords": "KW-0219:Diabetes mellitus.; " }, { "identifier": "Pancreatic agenesis 1.", "acronym": "PAGEN1.", "accession": "DI-02123", "synonyms": "Congenital pancreatic hypoplasia.; PAGEN.; ", "cross_references": "MeSH; D010182.", "definition": "A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency. ", "keywords": "KW-0219:Diabetes mellitus.; " }, { "identifier": "Palmoplantar keratoderma, non-epidermolytic, focal or diffuse.", "acronym": "PPKNEFD.", "accession": "DI-04096", "synonyms": "Nonepidermolytic focal or diffuse palmoplantar keratoderma.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar keratoderma, non-epidermolytic, focal 2.", "acronym": "FNEPPK2.", "accession": "DI-04445", "synonyms": null, "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar keratoderma, epidermolytic, 2.", "acronym": "EPPK2.", "accession": "DI-06700", "synonyms": "Greither syndrome.; Keratosis of Greither.; ", "cross_references": "MeSH; D053546.", "definition": "A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar keratoderma, epidermolytic, 1.", "acronym": "EPPK1.", "accession": "DI-00893", "synonyms": "EHPPK.; Epidermolytic Unna-Thost disease.; Keratosis of Greither.; Keratosis palmaris et plantaris familiaris.; Localized epidermolytic hyperkeratosis.; Palmoplantar keratoderma, epidermolytic, with knuckle pads.; Palmoplantar keratoderma, Vorner type.; PPKE.; Tylosis.; ", "cross_references": "MeSH; D053546.", "definition": "A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK1 inheritance is autosomal dominant. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar keratoderma and woolly hair.", "acronym": "PPKWH.", "accession": "DI-04260", "synonyms": null, "cross_references": "MeSH; D007645.", "definition": "A disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar keratoderma and congenital alopecia 1.", "acronym": "PPKCA1.", "accession": "DI-04540", "synonyms": "Keratoderma-hypotrichosis-leukonychia totalis syndrome.; PPKCA, Stevanovic type.; ", "cross_references": "MeSH; D007645.", "definition": "A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. ", "keywords": "KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; " } ] }