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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4160&ordering=synonyms",
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"results": [
{
"identifier": "Atrial fibrillation, familial, 11.",
"acronym": "ATFB11.",
"accession": "DI-03142",
"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": "Intellectual developmental disorder, X-linked, syndromic 14.",
"acronym": "MRXS14.",
"accession": "DI-02460",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted.",
"acronym": "MRXS99F.",
"accession": "DI-04666",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 30.",
"acronym": "DFNB30.",
"accession": "DI-00870",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 10.",
"acronym": "ATFB10.",
"accession": "DI-03122",
"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": "Intellectual developmental disorder, X-linked 95.",
"acronym": "MRX95.",
"accession": "DI-00740",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 92.",
"acronym": "MRX92.",
"accession": "DI-00738",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 91.",
"acronym": "MRX91.",
"accession": "DI-00737",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Juvenile primary lateral sclerosis.",
"acronym": "JPLS.",
"accession": "DI-00616",
"synonyms": null,
"cross_references": "MeSH; D016472.",
"definition": "A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 89.",
"acronym": "MRX89.",
"accession": "DI-00735",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 26.",
"acronym": "DFNB26.",
"accession": "DI-05262",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, severe to 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": "Intellectual developmental disorder, X-linked 88.",
"acronym": "MRX88.",
"accession": "DI-03180",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 46.",
"acronym": "MRX46.",
"accession": "DI-00731",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 45.",
"acronym": "MRX45.",
"accession": "DI-00730",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 25.",
"acronym": "DFNB25.",
"accession": "DI-02537",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. 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": "Amegakaryocytic thrombocytopenia, congenital, 1.",
"acronym": "CAMT1.",
"accession": "DI-01388",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 6.",
"acronym": "AOS6.",
"accession": "DI-04559",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 18B.",
"acronym": "DFNB18B.",
"accession": "DI-03621",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow 'U' or slightly downsloping shaped audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 113.",
"acronym": "XLID113.",
"accession": "DI-06838",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by mild intellectual disability, and developmental delay mainly affecting verbal and non-verbal communication skills. Motor development is normal. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 112.",
"acronym": "XLID112.",
"accession": "DI-06714",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by developmental delay, impaired intellectual development, language and motor delay, autism or autistic traits, and variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; "
}
]
}