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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4140&ordering=synonyms",
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"results": [
{
"identifier": "Deafness, autosomal recessive, 57.",
"acronym": "DFNB57.",
"accession": "DI-05260",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. 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. DFNB57 severity ranges from moderate to severe. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 14.",
"acronym": "ATFB14.",
"accession": "DI-03856",
"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": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.",
"acronym": "PAPPAS.",
"accession": "DI-05747",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Raymond type.",
"acronym": "MRXSR.",
"accession": "DI-02508",
"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. Some MRXSR patients show additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Pilorge type.",
"acronym": "MRXSP.",
"accession": "DI-06379",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities. Variable features include motor incoordination, seizures, and ocular abnormalities. Disease onset is in infancy, and severity is higly variable. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 44.",
"acronym": "DFNB44.",
"accession": "DI-04170",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 13.",
"acronym": "ATFB13.",
"accession": "DI-03855",
"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, Houge type.",
"acronym": "MRXSHG.",
"accession": "DI-05156",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Caspase-8 deficiency.",
"acronym": "CASP8D.",
"accession": "DI-01326",
"synonyms": null,
"cross_references": "MedGen; C1846545.",
"definition": "Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type.",
"acronym": "MRXSHD.",
"accession": "DI-05781",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Carpenter syndrome 2.",
"acronym": "CRPT2.",
"accession": "DI-03635",
"synonyms": null,
"cross_references": "MeSH; D000168.",
"definition": "An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Atrial fibrillation, familial, 12.",
"acronym": "ATFB12.",
"accession": "DI-03143",
"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": "Amegakaryocytic thrombocytopenia, congenital, 2.",
"acronym": "CAMT2.",
"accession": "DI-06746",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A 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. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Bain type.",
"acronym": "MRXSB.",
"accession": "DI-04850",
"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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Armfield type.",
"acronym": "MRXSA.",
"accession": "DI-05903",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 35.",
"acronym": "DFNB35.",
"accession": "DI-00872",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 35.",
"acronym": "MRXS35.",
"accession": "DI-05030",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 33.",
"acronym": "MRXS33.",
"accession": "DI-04617",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 32.",
"acronym": "MRXS32.",
"accession": "DI-03627",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Carpal tunnel syndrome 2.",
"acronym": "CTS2.",
"accession": "DI-06003",
"synonyms": null,
"cross_references": "MeSH; D002349.",
"definition": "An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. ",
"keywords": null
}
]
}