Human Disease List
GET /api/human_diseases/?format=api&offset=1600&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1620&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1580&ordering=-identifier", "results": [ { "identifier": "Palmoplantar keratoderma 1, striate, focal, or diffuse.", "acronym": "PPKS1.", "accession": "DI-00895", "synonyms": "Keratoderma, palmoplantar, striate form I.; Keratosis palmoplantaris striata I.; KPPS1.; SPPK1.; Striate palmoplantar keratoderma I.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Palmoplantar carcinoma, multiple self-healing.", "acronym": "MSPC.", "accession": "DI-03762", "synonyms": "CIDED.; Corneal intraepithelial dyskeratosis and ectodermal dysplasia.; ", "cross_references": "MeSH; D004476.", "definition": "An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Pallister-Hall syndrome.", "acronym": "PHS.", "accession": "DI-02122", "synonyms": "Hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly.; ", "cross_references": "MeSH; D054975.", "definition": "An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. ", "keywords": null }, { "identifier": "Pallister-Hall-like syndrome.", "acronym": "PHLS.", "accession": "DI-05902", "synonyms": "Hamartoma of hypothalamus.; Hypothalamic hamartomas.; ", "cross_references": "MeSH; D054975.", "definition": "An autosomal recessive disorder characterized by a wide phenotypic spectrum of developmental anomalies affecting the brain, heart, skeleton and enteric nervous system. Clinical features include hypothalamic hamartoma, microcephaly, atrioventricular septal defect, postaxial polydactyly, narrow chest, shortening of long bones, and aganglionosis. ", "keywords": null }, { "identifier": "Paget disease of bone 6.", "acronym": "PDB6.", "accession": "DI-04662", "synonyms": null, "cross_references": "MeSH; D010001.", "definition": "An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone. ", "keywords": null }, { "identifier": "Paget disease of bone 5, juvenile-onset.", "acronym": "PDB5.", "accession": "DI-01852", "synonyms": "Chronic congenital idiopathic hyperphosphatasia.; Hereditary hyperphosphatasia.; Hyperostosis corticalis deformans juvenilis.; JPD.; Juvenile Paget disease.; Osteoectasia, familial.; ", "cross_references": "MeSH; D010001.", "definition": "An autosomal recessive, juvenile-onset form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. ", "keywords": null }, { "identifier": "Paget disease of bone 3.", "acronym": "PDB3.", "accession": "DI-04539", "synonyms": "Osteitis Deformans.; ", "cross_references": "MeSH; D010001.", "definition": "A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. ", "keywords": null }, { "identifier": "Paget disease of bone 2, early-onset.", "acronym": "PDB2.", "accession": "DI-02120", "synonyms": null, "cross_references": "MeSH; D010001.", "definition": "A form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. ", "keywords": null }, { "identifier": "Paganini-Miozzo syndrome.", "acronym": "MRXSPM.", "accession": "DI-05579", "synonyms": "HS6ST2-CDG.; ", "cross_references": "MeSH; D038901.", "definition": "An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Pachyonychia congenita 4.", "acronym": "PC4.", "accession": "DI-04095", "synonyms": null, "cross_references": "MeSH; D053549.", "definition": "An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. ", "keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Pachyonychia congenita 3.", "acronym": "PC3.", "accession": "DI-04094", "synonyms": null, "cross_references": "MeSH; D053549.", "definition": "An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. ", "keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Pachyonychia congenita 2.", "acronym": "PC2.", "accession": "DI-00892", "synonyms": "Pachyonychia congenita Jackson-Lawler type.; ", "cross_references": "MeSH; D053549.", "definition": "An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. ", "keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Pachyonychia congenita 1.", "acronym": "PC1.", "accession": "DI-00891", "synonyms": "Jadassohn-Lewandowsky syndrome.; Pachyonychia congenita Jadassohn-Lewandowsky type.; ", "cross_references": "MeSH; D053549.", "definition": "An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. ", "keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "P5N deficiency.", "acronym": "P5ND.", "accession": "DI-02118", "synonyms": "Hemolytic anemia due to P5N deficiency.; Hemolytic anemia due to UMPH1 deficiency.; ", "cross_references": "MedGen; C1849507.", "definition": "Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. ", "keywords": null }, { "identifier": "Overlap connective tissue disease.", "acronym": "OCTD.", "accession": "DI-01941", "synonyms": "MASS syndrome.; ", "cross_references": "MedGen; C1858556.", "definition": "Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. ", "keywords": null }, { "identifier": "Overhydrated hereditary stomatocytosis.", "acronym": "OHST.", "accession": "DI-04608", "synonyms": "Hereditary, overhydrated, cation-leak stomatocytosis.; OHS.; Overhydrated cation leak stomatocytosis.; Potassium sodium disorder of erythrocyte.; ", "cross_references": "MeSH; D000745.", "definition": "An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. ", "keywords": "KW-0360:Hereditary hemolytic anemia.; " }, { "identifier": "Ovarian hyperstimulation syndrome.", "acronym": "OHSS.", "accession": "DI-02117", "synonyms": null, "cross_references": "MedGen; C0085083.", "definition": "Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. ", "keywords": null }, { "identifier": "Ovarian dysgenesis 9.", "acronym": "ODG9.", "accession": "DI-06295", "synonyms": null, "cross_references": "MeSH; D023961.", "definition": "An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ", "keywords": null }, { "identifier": "Ovarian dysgenesis 8.", "acronym": "ODG8.", "accession": "DI-05386", "synonyms": null, "cross_references": "MeSH; D023961.", "definition": "An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ", "keywords": null }, { "identifier": "Ovarian dysgenesis 7.", "acronym": "ODG7.", "accession": "DI-05334", "synonyms": null, "cross_references": "MeSH; D023961.", "definition": "A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition. ", "keywords": null } ] }