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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6320&ordering=synonyms",
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"results": [
{
"identifier": "Proteinuria, chronic benign.",
"acronym": "PROCHOB.",
"accession": "DI-05842",
"synonyms": null,
"cross_references": "MeSH; D011507.",
"definition": "An autosomal recessive condition characterized by isolated, non- progressive proteinuria in absence of renal disease and hypertension. Onset of proteinuria is in the first decade of life. ",
"keywords": null
},
{
"identifier": "Proteasome-associated autoinflammatory syndrome 6.",
"acronym": "PRAAS6.",
"accession": "DI-06890",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder characterized by recurrent fever, skin rash, myositis, liver dysfunction, splenomegaly, pulmonary hypertension, and basal ganglia calcifications. Disease onset is in early infancy. ",
"keywords": null
},
{
"identifier": "Proteasome-associated autoinflammatory syndrome 5.",
"acronym": "PRAAS5.",
"accession": "DI-06029",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive, autoinflammatory disorder characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration in the skin, fever, failure to thrive, and persistent hepatosplenomegaly. Disease onset is in early infancy. ",
"keywords": null
},
{
"identifier": "Proteasome-associated autoinflammatory syndrome 4.",
"acronym": "PRAAS4.",
"accession": "DI-06047",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive, autoinflammatory disorder characterized by panniculitis and erythematous skin lesions apparent in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, fever, generalized lipodystrophy, myositis, joint contractures, and mild motor and speech delay. ",
"keywords": null
},
{
"identifier": "Proteasome-associated autoinflammatory syndrome 2.",
"acronym": "PRAAS2.",
"accession": "DI-05287",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. ",
"keywords": null
},
{
"identifier": "Tarsal-carpal coalition syndrome.",
"acronym": "TCC.",
"accession": "DI-02359",
"synonyms": null,
"cross_references": "MedGen; C1861306.",
"definition": "Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. ",
"keywords": null
},
{
"identifier": "Stickler syndrome 4.",
"acronym": "STL4.",
"accession": "DI-01089",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Stickler syndrome 5.",
"acronym": "STL5.",
"accession": "DI-03280",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Prostate cancer, hereditary, 9.",
"acronym": "HPC9.",
"accession": "DI-06719",
"synonyms": null,
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Stiff skin syndrome.",
"acronym": "SSKS.",
"accession": "DI-02823",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness. ",
"keywords": null
},
{
"identifier": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2.",
"acronym": "SSFSC2.",
"accession": "DI-06048",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by reduced growth, skeletal abnormalities, a distinctive craniofacial appearance, and dental anomalies. Cardiac anomalies have been reported in some patients. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Proprotein convertase 1 deficiency.",
"acronym": "PC1 deficiency.",
"accession": "DI-02223",
"synonyms": null,
"cross_references": "MedGen; C1833053.",
"definition": "Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. ",
"keywords": null
},
{
"identifier": "Propionic acidemia type II.",
"acronym": "PA-2.",
"accession": "DI-02222",
"synonyms": null,
"cross_references": "MedGen; C0311298.",
"definition": "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. ",
"keywords": null
},
{
"identifier": "Propionic acidemia type I.",
"acronym": "PA-1.",
"accession": "DI-02221",
"synonyms": null,
"cross_references": "MedGen; C0311297.",
"definition": "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. ",
"keywords": null
},
{
"identifier": "Striatal degeneration, autosomal dominant 1.",
"acronym": "ADSD1.",
"accession": "DI-02813",
"synonyms": null,
"cross_references": "MeSH; D001480.",
"definition": "A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. ",
"keywords": null
},
{
"identifier": "Striatal degeneration, autosomal dominant 2.",
"acronym": "ADSD2.",
"accession": "DI-04708",
"synonyms": null,
"cross_references": "MeSH; D006948.",
"definition": "An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. ",
"keywords": null
},
{
"identifier": "Properdin deficiency.",
"acronym": "PFD.",
"accession": "DI-02220",
"synonyms": null,
"cross_references": "MedGen; C1839456.",
"definition": "Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). ",
"keywords": null
},
{
"identifier": "Prolidase deficiency.",
"acronym": "PD.",
"accession": "DI-02218",
"synonyms": null,
"cross_references": "MeSH; D056732.",
"definition": "A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies. ",
"keywords": null
},
{
"identifier": "Structural brain anomalies with impaired intellectual development and craniosynostosis.",
"acronym": "BAIDCS.",
"accession": "DI-05736",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present. ",
"keywords": "KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Structural heart defects and renal anomalies syndrome.",
"acronym": "SHDRA.",
"accession": "DI-05001",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum. ",
"keywords": null
}
]
}