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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3640&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia.",
"acronym": "IMD100.",
"accession": "DI-06438",
"synonyms": "PAPHG.; Pulmonary alveolar proteinosis with hypogammaglobulinemia.; ",
"cross_references": "MeSH; D011649.",
"definition": "An autosomal dominant disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Disease development appears to be influenced or triggered by viral infection. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. ",
"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": "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": "Olmsted syndrome 2.",
"acronym": "OLMS2.",
"accession": "DI-06019",
"synonyms": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2.; PPKM2.; ",
"cross_references": "MeSH; D007645.",
"definition": "A form of Olmsted syndrome, a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. OLMS2 is an autosomal dominant form with onset in the first months of life or in early childhood. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal.",
"acronym": "PKKSCC.",
"accession": "DI-00899",
"synonyms": "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal.; ",
"cross_references": "MeSH; D007645.",
"definition": "A recessive syndrome characterized by XX (female to male) SRY- independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Culler-Jones syndrome.",
"acronym": "CJS.",
"accession": "DI-04127",
"synonyms": "Pallister-Hall syndrome 2.; PHS2.; ",
"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": "Parkinson disease 15.",
"acronym": "PARK15.",
"accession": "DI-02139",
"synonyms": "Pallidopyramidal syndrome.; Pallido-pyramidal syndrome.; Parkinson disease 15 autosomal recessive.; Parkinsonian-pyramidal syndrome.; PKPS.; PPS.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Anemia, sideroblastic, spinocerebellar ataxia.",
"acronym": "ASAT.",
"accession": "DI-02459",
"synonyms": "Pagon Bird Detter syndrome.; ",
"cross_references": "MeSH; D020754.",
"definition": "An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. ",
"keywords": null
},
{
"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": "Cortical dysplasia, complex, with other brain malformations 15.",
"acronym": "CDCBM15.",
"accession": "DI-05737",
"synonyms": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures.; PAMDDFS.; ",
"cross_references": "MeSH; D054082.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures. ",
"keywords": "KW-0451:Lissencephaly.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 1.",
"acronym": "PHOAR1.",
"accession": "DI-02204",
"synonyms": "Pachydermoperiostosis autosomal recessive.; PDP autosomal recessive.; PHO autosomal recessive.; Touraine-Solente-Gole syndrome.; ",
"cross_references": "MeSH; D010004.",
"definition": "A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. ",
"keywords": null
},
{
"identifier": "5-oxoprolinase deficiency.",
"acronym": "OPLAHD.",
"accession": "DI-03412",
"synonyms": "Oxoprolinuria due to oxoprolinase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 16.",
"acronym": "IMD16.",
"accession": "DI-04001",
"synonyms": "OX40 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency. ",
"keywords": null
},
{
"identifier": "Tenorio syndrome.",
"acronym": "TNORS.",
"accession": "DI-04352",
"synonyms": "Overgrowth, macrocephaly, and intellectual disability syndrome.; ",
"cross_references": "MeSH; D058627.",
"definition": "A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ovarian dysgenesis 2.",
"acronym": "ODG2.",
"accession": "DI-02116",
"synonyms": "Ovarian failure hypergonadotropic due to ovarian dysgenesis.; X-linked hypergonadotropic ovarian dysgenesis.; ",
"cross_references": "MeSH; D023961.",
"definition": "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": "Osteogenic sarcoma.",
"acronym": "OSRC.",
"accession": "DI-02109",
"synonyms": "Osteosarcoma.; ",
"cross_references": "MeSH; D012516.",
"definition": "A sarcoma originating in bone-forming cells, affecting the ends of long bones. ",
"keywords": null
},
{
"identifier": "Osteoglophonic dysplasia.",
"acronym": "OGD.",
"accession": "DI-02110",
"synonyms": "Osteoglophonic dwarfism.; ",
"cross_references": "MedGen; C0432283.",
"definition": "Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Bruck syndrome 2.",
"acronym": "BRKS2.",
"accession": "DI-01299",
"synonyms": "Osteogenesis imperfecta with congenital joint contractures.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. ",
"keywords": null
},
{
"identifier": "Osteogenesis imperfecta 23.",
"acronym": "OI23.",
"accession": "DI-06799",
"synonyms": "Osteogenesis imperfecta, type XXIII.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI23 is a mild form characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Platyspondyly and metaphyseal enlargement is present in infancy but resolve in middle childhood. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 22.",
"acronym": "OI22.",
"accession": "DI-06367",
"synonyms": "Osteogenesis imperfecta, type XXII.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
}
]
}