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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6560&ordering=synonyms",
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{
"identifier": "Parenti-Mignot neurodevelopmental syndrome.",
"acronym": "PMNDS.",
"accession": "DI-06423",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Uncombable hair syndrome 3.",
"acronym": "UHS3.",
"accession": "DI-04897",
"synonyms": null,
"cross_references": "MeSH; D006201.",
"definition": "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. ",
"keywords": null
},
{
"identifier": "Parathyroid carcinoma.",
"acronym": "PRTC.",
"accession": "DI-02129",
"synonyms": null,
"cross_references": "MedGen; C0687150.",
"definition": "These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment. ",
"keywords": null
},
{
"identifier": "Parastremmatic dwarfism.",
"acronym": "PSTD.",
"accession": "DI-02970",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Uridine-cytidineuria.",
"acronym": "URCTU.",
"accession": "DI-05596",
"synonyms": null,
"cross_references": "MeSH; D011686.",
"definition": "An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations. ",
"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": "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": "Urofacial syndrome 2.",
"acronym": "UFS2.",
"accession": "DI-03706",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. ",
"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": "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 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": "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": "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 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": "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": "Usher syndrome 1M.",
"acronym": "USH1M.",
"accession": "DI-05680",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"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": "Ovarian dysgenesis 6.",
"acronym": "ODG6.",
"accession": "DI-05300",
"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. ODG6 is an autosomal recessive condition. ",
"keywords": null
},
{
"identifier": "Usher syndrome 2D.",
"acronym": "USH2D.",
"accession": "DI-02406",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
}
]
}