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{
"identifier": "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.",
"acronym": "NEDSWMA.",
"accession": "DI-05922",
"synonyms": "Cerebral palsy, spastic quadriplegic, 1.; CPSQ1.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.",
"acronym": "NEDAMSS.",
"accession": "DI-05310",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures and brain abnormalities.",
"acronym": "NEDSBA.",
"accession": "DI-06220",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures and brain atrophy.",
"acronym": "NEDSEBA.",
"accession": "DI-05952",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by brain atrophy, seizures, and developmental delay. Disease severity is variable. Severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures and gingival overgrowth.",
"acronym": "NEDSGO.",
"accession": "DI-06108",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder with variable clinical manifestations including delayed development, hypotonia, seizures, gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Some patients have early normal development followed by developmental regression. Additional variable features are coarse facial features, optic atrophy, sensorineural hearing loss, and ataxia. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements.",
"acronym": "NEDNEH.",
"accession": "DI-05607",
"synonyms": "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures and speech and walking impairment.",
"acronym": "NEDSSWI.",
"accession": "DI-05598",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities.",
"acronym": "NEDSHBA.",
"accession": "DI-05868",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities.",
"acronym": "NEDSMBA.",
"accession": "DI-06498",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, severe to profound intellectual disability, progressive microcephaly, refractory early-onset epilepsy, white matter abnormalities, and periventricular calcifications. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum.",
"acronym": "NEDSSCC.",
"accession": "DI-06623",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, and seizures. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.",
"acronym": "NEDMLHB.",
"accession": "DI-06455",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder with onset soon after birth or in early infancy. Affected individuals do not show developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Additional variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties.",
"acronym": "NEDSFF.",
"accession": "DI-06521",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spastic diplegia and visual defects.",
"acronym": "NEDSDV.",
"accession": "DI-03652",
"synonyms": "MRD19.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spasticity and poor growth.",
"acronym": "NEDSG.",
"accession": "DI-05305",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia.",
"acronym": "NEDSCAC.",
"accession": "DI-06070",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and poor or absent speech. More severely affected individuals do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Additional features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and hypomyelination. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities.",
"acronym": "NEDSPLB.",
"accession": "DI-04528",
"synonyms": "PMGYCHA.; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.; ",
"cross_references": "MeSH; D054220.",
"definition": "A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities.",
"acronym": "NEDSSBA.",
"accession": "DI-06482",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by developmental delay apparent in infancy, impaired intellectual development with poor or absent speech, epilepsy, variable microcephaly, hypotonia, and spastic cerebral palsy. Brain abnormalities include simplified gyral pattern, defects of the operculum, and vermian hypoplasia. Death in early childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spastic paraplegia and microcephaly.",
"acronym": "NEDSPM.",
"accession": "DI-04363",
"synonyms": "MRT49.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.",
"acronym": "NEDSBAS.",
"accession": "DI-05249",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with speech delay and variable ocular anomalies.",
"acronym": "NEDSOA.",
"accession": "DI-06478",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}