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"count": 6723,
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{
"identifier": "Neurodevelopmental disorder with hypotonia and brain abnormalities.",
"acronym": "NEDHYBA.",
"accession": "DI-06219",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures.",
"acronym": "NEDHCAS.",
"accession": "DI-05837",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 22.; GPIBD22.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or absent speech, and epilepsy in most patients. Some patients manifest facial dysmorphism. Disease onset is in infancy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities.",
"acronym": "NEDHBA.",
"accession": "DI-06860",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by hypotonia in infancy, delayed psychomotor development and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. Episodes of seizures in the first few years of life may occur. Brain imaging shows abnormalities of the lateral ventricles. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and dysmorphic facies.",
"acronym": "NEDHYDF.",
"accession": "DI-06217",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, hypotonia, and variably impaired intellectual development, often with speech delay and delayed walking. Most patients have dysmorphic facial features. Clinical features are highly variable and may include congenital cardiac defects, non-specific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and gross motor and speech delay.",
"acronym": "NEDHMS.",
"accession": "DI-06284",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and seizures.",
"acronym": "NEDHS.",
"accession": "DI-06887",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, severe disorder characterized by global developmental delay, language impairment, impaired intellectual development, hypotonia, and early-onset seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures.",
"acronym": "NEDHSS.",
"accession": "DI-06734",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by global developmental delay, intellectual disability, poor or absent speech, hypotonia, epilepsy, and structural brain anomalies. Inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities.",
"acronym": "NEDHIB.",
"accession": "DI-05667",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures.",
"acronym": "NEDHCS.",
"accession": "DI-03405",
"synonyms": "PMRED.; Psychomotor retardation, epilepsy, and craniofacial dysmorphism.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures.",
"acronym": "NEDFSS.",
"accession": "DI-06597",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, moderate to severely impaired intellectual development, poor or absent speech, congenital hypotonia, dysmorphic facial features, exotropia, and musculoskeletal issues such as hip dysplasia, hip dislocation and scoliosis. About half of patients develop various types of seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities.",
"acronym": "NEDHFS.",
"accession": "DI-06586",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures may be present in affected individuals. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities.",
"acronym": "NEDHFBA.",
"accession": "DI-06138",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, hypotonia, coarse facial features, and muscle weakness, often resulting in the inability to walk or sit. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures.",
"acronym": "NEDHELS.",
"accession": "DI-04854",
"synonyms": "DYSEIDD.; Dyskinesia, seizures, and intellectual developmental disorder.; ",
"cross_references": "MeSH; D020820.",
"definition": "An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities.",
"acronym": "NEDHISB.",
"accession": "DI-06412",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, delayed or absent speech, hypotonia, behavioral abnormalities, and epilepsy that ranges from self-limiting to intractable. More variable features include non- specific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures.",
"acronym": "NEDHLSS.",
"accession": "DI-06503",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent from infancy, intellectual disability, poor or absent speech, behavioral abnormalities, and hypotonia with delayed walking or inability to walk. Additional features include epilepsy, mild skeletal defects, and non-specific dysmorphic features. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, microcephaly, and seizures.",
"acronym": "NEDHYMS.",
"accession": "DI-05827",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, impaired intellectual development with absent language, and early-onset intractable seizures in most patients. Additional features include poor overall growth, microcephaly, dysmorphic features, poor eye contact due to cortical blindness, and non-specific brain abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation.",
"acronym": "NEDHRIT.",
"accession": "DI-05772",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.",
"acronym": "NEDHND.",
"accession": "DI-05015",
"synonyms": "CMND.; Myopathy, congenital, with neuropathy and deafness.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, seizures, and absent language.",
"acronym": "NDHSAL.",
"accession": "DI-04894",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language.",
"acronym": "NEDHSIL.",
"accession": "DI-02856",
"synonyms": "MRD20.; ",
"cross_references": "MeSH; D019956.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}