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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5480&ordering=-synonyms",
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"results": [
{
"identifier": "C1q deficiency 2.",
"acronym": "C1QD2.",
"accession": "DI-06645",
"synonyms": "Complement component C1q deficiency 2.; ",
"cross_references": "MeSH; D007105.",
"definition": "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ",
"keywords": null
},
{
"identifier": "C1q deficiency 1.",
"acronym": "C1QD1.",
"accession": "DI-01305",
"synonyms": "Complement component C1q deficiency.; ",
"cross_references": "MeSH; D007105.",
"definition": "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 10.",
"acronym": "CVID10.",
"accession": "DI-03979",
"synonyms": "Common variable immunodeficiency with central adrenal insufficiency.; DAVID.; Deficit in anterior pituitary function and variable immunodeficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. ",
"keywords": null
},
{
"identifier": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.",
"acronym": "COMMAD.",
"accession": "DI-04925",
"synonyms": "COMMAD syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis. ",
"keywords": "KW-0015:Albinism.; KW-0209:Deafness.; KW-0987:Osteopetrosis.; KW-1013:Microphthalmia.; "
},
{
"identifier": "Otitis media.",
"acronym": "OM.",
"accession": "DI-05294",
"synonyms": "COME/ROM.; OMS.; Otitis media, chronic/recurrent.; ",
"cross_references": "MeSH; D010033.",
"definition": "An inflammation of the middle ear resulting in earache, fever, hearing disturbance, and vertigo. ",
"keywords": null
},
{
"identifier": "Netherton syndrome.",
"acronym": "NETH.",
"accession": "DI-00809",
"synonyms": "Comel-Netherton syndrome.; Erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE.; Netherton disease.; NS.; NTS.; ",
"cross_references": "MeSH; D056770.",
"definition": "An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. ",
"keywords": "KW-0977:Ichthyosis.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Combined saposin deficiency.",
"acronym": "PSAPD.",
"accession": "DI-01370",
"synonyms": "Combined SAP deficiency.; Prosaposin deficiency.; ",
"cross_references": "MeSH; D020739.",
"definition": "An autosomal recessive storage disorder characterized by hepatosplenomegaly and severe neurologic disease, due to absence of all saposins. PSAPD has a fatal outcome in infancy. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined, 3.",
"acronym": "CPHD3.",
"accession": "DI-02580",
"synonyms": "Combined pituitary hormone deficiency with rigid cervical spine.; Sensorineural deafness with pituitary dwarfism.; ",
"cross_references": "MeSH; D007018.",
"definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay.",
"acronym": "PNSED.",
"accession": "DI-04526",
"synonyms": "Combined oxidative phosphorylation deficiency 26.; COXPD26.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early- onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay.",
"acronym": "MPMCD.",
"accession": "DI-02638",
"synonyms": "Combined mitochondrial complex deficiency.; Myopathy with cataract and combined respiratory chain deficiency.; ",
"cross_references": "MeSH; D017240.",
"definition": "A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Immunodeficiency 21.",
"acronym": "IMD21.",
"accession": "DI-03212",
"synonyms": "Combined immunodeficiency with susceptibility to mycobacterial viral and fungal infections.; DCML.; Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency.; Monocytopenia and mycobacterial infection syndrome.; Monocytopenia with susceptibility to mycobacterial fungal and papillomavirus infections and myelodysplasia.; MONOMAC.; ",
"cross_references": "MeSH; D008231.",
"definition": "An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T- cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. ",
"keywords": null
},
{
"identifier": "Spondyloenchondrodysplasia with immune dysregulation.",
"acronym": "SPENCDI.",
"accession": "DI-03197",
"synonyms": "Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia.; Roifman immunoskeletal syndrome.; SPENCD.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. ",
"keywords": null
},
{
"identifier": "Roifman-Chitayat syndrome.",
"acronym": "ROCHIS.",
"accession": "DI-06090",
"synonyms": "Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay.; ",
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. ",
"keywords": null
},
{
"identifier": "Hypobetalipoproteinemia, familial, 2.",
"acronym": "FHBL2.",
"accession": "DI-03014",
"synonyms": "Combined hypobetalipoproteinemia familial.; ",
"cross_references": "MeSH; D006995.",
"definition": "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides. ",
"keywords": null
},
{
"identifier": "Xanthinuria 2.",
"acronym": "XAN2.",
"accession": "DI-01154",
"synonyms": "Combined deficiency of xanthine dehydrogenase and aldehyde oxidase.; Xanthic urolithiasis.; ",
"cross_references": "MeSH; D052878.",
"definition": "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, XAN2 patients cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. ",
"keywords": null
},
{
"identifier": "Molybdenum cofactor deficiency A.",
"acronym": "MOCODA.",
"accession": "DI-01989",
"synonyms": "Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.; Molybdenum cofactor deficiency, complementation group A.; Molybdenum cofactor deficiency, type A.; ",
"cross_references": "MeSH; D008664.",
"definition": "An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. ",
"keywords": null
},
{
"identifier": "Polyposis syndrome, mixed hereditary 1.",
"acronym": "HMPS1.",
"accession": "DI-03478",
"synonyms": "Colorectal adenoma and carcinoma 1.; CRAC1.; ",
"cross_references": "MeSH; D018256.",
"definition": "A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features. ",
"keywords": null
},
{
"identifier": "Colorectal cancer.",
"acronym": "CRC.",
"accession": "DI-01359",
"synonyms": "Colon cancer.; ",
"cross_references": "MeSH; D015179.",
"definition": "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ",
"keywords": null
},
{
"identifier": "Microphthalmia, syndromic, 13.",
"acronym": "MCOPS13.",
"accession": "DI-04169",
"synonyms": "Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.; Maine microphthalmos.; ",
"cross_references": "MeSH; D008850.",
"definition": "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 7.",
"acronym": "MCOPCB7.",
"accession": "DI-03384",
"synonyms": "Colobomatous microphthalmia 7.; Microphthalmia, isolated, with coloboma, 7.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
}
]
}