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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=700&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=660&ordering=-synonyms",
"results": [
{
"identifier": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.",
"acronym": "DCWHKTA.",
"accession": "DI-04267",
"synonyms": null,
"cross_references": "MeSH; D007645.",
"definition": "A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Brain small vessel disease 3.",
"acronym": "BSVD3.",
"accession": "DI-05511",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ",
"keywords": null
},
{
"identifier": "Branched-chain ketoacid dehydrogenase kinase deficiency.",
"acronym": "BCKDKD.",
"accession": "DI-03567",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.",
"acronym": "BCAHH.",
"accession": "DI-06584",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Cardiac conduction disease with or without dilated cardiomyopathy.",
"acronym": "CCDD.",
"accession": "DI-04282",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cataract 20, multiple types.",
"acronym": "CTRCT20.",
"accession": "DI-03776",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cone-rod dystrophy 12.",
"acronym": "CORD12.",
"accession": "DI-00326",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 28.",
"acronym": "COXPD28.",
"accession": "DI-04643",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Aplasia cutis-enamel dysplasia.",
"acronym": "ACED.",
"accession": "DI-06886",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Brugada syndrome 8.",
"acronym": "BRGDA8.",
"accession": "DI-02557",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Breast cancer, lobular.",
"acronym": "LBC.",
"accession": "DI-03803",
"synonyms": null,
"cross_references": "MeSH; D001943.",
"definition": "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. ",
"keywords": null
},
{
"identifier": "Albright hereditary osteodystrophy.",
"acronym": "AHO.",
"accession": "DI-00073",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
},
{
"identifier": "Aplasia or hypoplasia of the breasts and/or nipples 2.",
"acronym": "BNAH2.",
"accession": "DI-04216",
"synonyms": null,
"cross_references": "MeSH; D001941.",
"definition": "A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, recessive intermediate D.",
"acronym": "CMTRID.",
"accession": "DI-04254",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Aplastic anemia.",
"acronym": "AA.",
"accession": "DI-02842",
"synonyms": null,
"cross_references": "MeSH; D000741.",
"definition": "A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 5.",
"acronym": "BROVCA5.",
"accession": "DI-06717",
"synonyms": null,
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Cole disease.",
"acronym": "COLED.",
"accession": "DI-03946",
"synonyms": null,
"cross_references": "MeSH; D017496.",
"definition": "A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. ",
"keywords": null
},
{
"identifier": "Brittle cornea syndrome 2.",
"acronym": "BCS2.",
"accession": "DI-03176",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ",
"keywords": null
},
{
"identifier": "Alfadhel syndrome.",
"acronym": "AFDL.",
"accession": "DI-06815",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 79.",
"acronym": "DFNA79.",
"accession": "DI-05958",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic, progressive sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA79 affected females appear to have milder hearing loss than males. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}