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"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4960&ordering=synonyms",
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{
"identifier": "Developmental delay and seizures with or without movement abnormalities.",
"acronym": "DEDSM.",
"accession": "DI-05179",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with dysmorphic facies and dental anomalies.",
"acronym": "DEFDA.",
"accession": "DI-06057",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by mild global developmental delay, impaired intellectual development, walking by 2 to 3 years, and slow language acquisition.The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, abnormal dentition and non-specific visual defects. DEFDA transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with hypotonia, myopathy, and brain abnormalities.",
"acronym": "DEDHMB.",
"accession": "DI-06607",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and muscle weakness apparent in infancy, microcephaly, seizures, central hypotonia, and skeletal muscle myopathy. Brain imaging shows cerebral atrophy, thinning of the corpus callosum, and delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with or without dysmorphic facies and autism.",
"acronym": "DEDDFA.",
"accession": "DI-05586",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay with or without epilepsy.",
"acronym": "DEVEP.",
"accession": "DI-06777",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood, and characterized by impaired intellectual development, speech delay, motor delay, and behavioral abnormalities. About half of patients develop various types of seizures. Some affected individuals have cerebellar atrophy and ataxia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with or without intellectual impairment or behavioral abnormalities.",
"acronym": "DDIB.",
"accession": "DI-06244",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by a highly variable phenotype of developmental delay, intellectual disability, learning or behavioral problems, muscular hypotonia, and neonatal feeding difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with variable intellectual disability and dysmorphic facies.",
"acronym": "DIDDF.",
"accession": "DI-06542",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with variable intellectual impairment and behavioral abnormalities.",
"acronym": "DDVIBA.",
"accession": "DI-05566",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with variable neurologic and brain abnormalities.",
"acronym": "DENBA.",
"accession": "DI-06311",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders.",
"acronym": "DEDBANP.",
"accession": "DI-06517",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by mild global developmental delay, normal or variably impaired intellectual development, and behavioral or neuropsychiatric disorders, including autism spectrum disorder, attention deficit-hyperactivity disorder, and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay, dysmorphic facies, and brain anomalies.",
"acronym": "DEVDFB.",
"accession": "DI-06773",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with intellectual disability and speech delay, epilepsy, hypotonia, short stature, microcephaly, intermittent exotropia, and non-specific facial dysmorphism. Brain imaging shows a thin corpus callosum and/or delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, hypotonia, and impaired language.",
"acronym": "DEDHIL.",
"accession": "DI-06489",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, language difficulties, hypotonia, and gastrointestinal problems. Brain imaging shows variable structural abnormalities affecting the cerebellum, corpus collosum, and white matter. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities.",
"acronym": "DEHMBA.",
"accession": "DI-06262",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, speech delay, mild to severe intellectual disability, hypotonia, musculoskeletal features, and behavioral abnormalities including autistic features. Skeletal anomalies include joint hypermobility, chronic musculoskeletal pain, scoliosis, and pectus defects. Affected individuals also have non-specific and variable dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy.",
"acronym": "DIGFAN.",
"accession": "DI-06005",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. ",
"keywords": "KW-0242:Dwarfism.; KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities.",
"acronym": "DDISBA.",
"accession": "DI-06193",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures.",
"acronym": "DEDISB.",
"accession": "DI-06472",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay, language impairment, and ocular abnormalities.",
"acronym": "DEVLO.",
"accession": "DI-06554",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental dysplasia of the hip 3.",
"acronym": "DDH3.",
"accession": "DI-06830",
"synonyms": null,
"cross_references": "MeSH; D000082602.",
"definition": "An autosomal dominant form of congenital dysplasia of the hip, a common skeletal anomaly in which the normal seating of the femoral head in the acetabulum is disrupted. Its severity ranges from mild instability of the femoral head with slight capsular laxity, permitting minimal lateral displacement, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 27.",
"acronym": "CMH27.",
"accession": "DI-05290",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a 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. CMH27 is a severe, early- onset form with features of hypertrophic and dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Diabetes mellitus, ketosis-prone.",
"acronym": "KPD.",
"accession": "DI-02784",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. ",
"keywords": "KW-0219:Diabetes mellitus.; "
}
]
}