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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1740&ordering=-synonyms",
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"results": [
{
"identifier": "Cataract 12, multiple types.",
"acronym": "CTRCT12.",
"accession": "DI-01215",
"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. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Epidermolysis bullosa dystrophica, pretibial type.",
"acronym": "PR-DEB.",
"accession": "DI-00455",
"synonyms": null,
"cross_references": "MeSH; D016108.",
"definition": "A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Cataract 13, with adult i phenotype.",
"acronym": "CTRCT13.",
"accession": "DI-03830",
"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. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 6.",
"acronym": "DKCB6.",
"accession": "DI-04424",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Deafness, autosomal recessive, 66.",
"acronym": "DFNB66.",
"accession": "DI-04549",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 67.",
"acronym": "DFNB67.",
"accession": "DI-02067",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 68.",
"acronym": "DFNB68.",
"accession": "DI-04685",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 16.",
"acronym": "ATFB16.",
"accession": "DI-04165",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration.",
"acronym": "DFNB70.",
"accession": "DI-03614",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 74.",
"acronym": "DFNB74.",
"accession": "DI-02958",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 76.",
"acronym": "DFNB76.",
"accession": "DI-03957",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness, a disorder resulting 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. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 17.",
"acronym": "ATFB17.",
"accession": "DI-04164",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Hyperemesis gravidarum.",
"acronym": "HG.",
"accession": "DI-06832",
"synonyms": null,
"cross_references": "MeSH; D006939.",
"definition": "An autosomal dominant condition characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and leads to significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity. ",
"keywords": null
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 10.",
"acronym": "ARCI10.",
"accession": "DI-03671",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Deafness, autosomal recessive, 84B.",
"acronym": "DFNB84B.",
"accession": "DI-03565",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 86.",
"acronym": "DFNB86.",
"accession": "DI-04026",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 88.",
"acronym": "DFNB88.",
"accession": "DI-03888",
"synonyms": null,
"cross_references": "MeSH; D046089.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 89.",
"acronym": "DFNB89.",
"accession": "DI-03865",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"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": "Macrocephaly, dysmorphic facies, and psychomotor retardation.",
"acronym": "MDFPMR.",
"accession": "DI-04773",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}