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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4400&ordering=synonyms",
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"results": [
{
"identifier": "Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.",
"acronym": "IDDFSDA.",
"accession": "DI-04997",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 27.",
"acronym": "DFNA27.",
"accession": "DI-05689",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 11.",
"acronym": "CMH11.",
"accession": "DI-00241",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies and ptosis.",
"acronym": "IDDDFP.",
"accession": "DI-04946",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.",
"acronym": "IDDFBA.",
"accession": "DI-05311",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with cardiac defects and dysmorphic facies.",
"acronym": "IDDCDF.",
"accession": "DI-05469",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 23.",
"acronym": "DFNA23.",
"accession": "DI-01205",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder with autistic features and language delay, with or without seizures.",
"acronym": "IDDALDS.",
"accession": "DI-05852",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder with autism and dysmorphic facies.",
"acronym": "IDDADF.",
"accession": "DI-06496",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "High molecular weight kininogen deficiency.",
"acronym": "HMWK deficiency.",
"accession": "DI-01744",
"synonyms": null,
"cross_references": "MedGen; C2673572.",
"definition": "Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface- mediated activation of fibrinolysis. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 1.",
"acronym": "CMH1.",
"accession": "DI-00233",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Asthma-related traits 5.",
"acronym": "ASRT5.",
"accession": "DI-02870",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Asthma-related traits 2.",
"acronym": "ASRT2.",
"accession": "DI-02880",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.",
"acronym": "IDDABS.",
"accession": "DI-05504",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder and retinitis pigmentosa.",
"acronym": "IDDRP.",
"accession": "DI-05391",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention deficit- hyperactivity disorder observed in some patients. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Insulin-resistant diabetes mellitus with acanthosis nigricans type A.",
"acronym": "IRAN type A.",
"accession": "DI-01828",
"synonyms": null,
"cross_references": "MedGen; C0342278.",
"definition": "Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 21.",
"acronym": "DFNA21.",
"accession": "DI-06409",
"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. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Inosine triphosphate pyrophosphohydrolase deficiency.",
"acronym": "ITPAD.",
"accession": "DI-01825",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. ",
"keywords": null
},
{
"identifier": "Inflammatory skin and bowel disease, neonatal, 2.",
"acronym": "NISBD2.",
"accession": "DI-04271",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 15.",
"acronym": "DFNA15.",
"accession": "DI-00844",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}