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{
"identifier": "Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment.",
"acronym": "NEDMVIC.",
"accession": "DI-06518",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity.",
"acronym": "NEDMCMS.",
"accession": "DI-05731",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients. ",
"keywords": "KW-0451:Lissencephaly.; KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.",
"acronym": "NEDMEBA.",
"accession": "DI-05188",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.",
"acronym": "NEDMEHM.",
"accession": "DI-05514",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, hypotonia, and absent language.",
"acronym": "NEDMHAL.",
"accession": "DI-06505",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by microcephaly, intellectual disability with absent speech, severe developmental delay, short stature, and hypotonia. Affected individuals also manifest aggressive behavior and have hearing loss. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.",
"acronym": "NMIHBA.",
"accession": "DI-05004",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures.",
"acronym": "NEDMHS.",
"accession": "DI-06424",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features include nystagmus, cortical blindness, and spasticity. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities.",
"acronym": "NEDMILG.",
"accession": "DI-05962",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent in infancy, moderate to profound intellectual disability, poor or absent speech and language, delayed walking with variable gait abnormalities, and progressive microcephaly. Additional variable features include hypotonia, early- onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities.",
"acronym": "NEDMILEG.",
"accession": "DI-05963",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy, delayed walking, ataxia, spasticity, impaired intellectual development with poor or absent speech and language, progressive microcephaly, and early-onset seizures in most patients. Facial dysmorphism and a demyelinating peripheral neuropathy may also be observed. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures.",
"acronym": "NEDMIMS.",
"accession": "DI-06497",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development, microcephaly, early-onset seizures, and movement abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy.",
"acronym": "NEDMISB.",
"accession": "DI-05953",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life. Death in childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.",
"acronym": "NDMSCA.",
"accession": "DI-05161",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis.",
"acronym": "NEDMSC.",
"accession": "DI-06302",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0988:Intrahepatic cholestasis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly, short stature, and speech delay.",
"acronym": "NEDMISS.",
"accession": "DI-06499",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior. ",
"keywords": "KW-0242:Dwarfism.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Neurodevelopmental disorder with midbrain and hindbrain malformations.",
"acronym": "NEDMHM.",
"accession": "DI-05017",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain- hindbrain malformations, and variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism.",
"acronym": "NEDMSF.",
"accession": "DI-06849",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, early-onset seizures, poor overall growth, delayed walking, hypotonia and/or ataxia, and facial dysmorphism. Some patients have hypoplasia of the corpus callosum and cerebral atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities.",
"acronym": "NEDMLOB.",
"accession": "DI-06709",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder apparent from infancy or early childhood, and characterized by global developmental delay, intellectual disability, motor and speech impairment, and brain abnormalities. Specifically, brain imaging shows progressive cortical atrophy, cortical gyral simplification, and delayed myelination affecting cerebrum and cerebellum. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Disease severity is variable and some patients may die in childhood. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities.",
"acronym": "NEDMOSBA.",
"accession": "DI-06187",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, speech delay, delayed walking, and behavioral abnormalities. Some patients develop spastic tetraplegia with inability to walk independently and never gain proper speech. Affected individuals may have variable additional features, including poor overall growth, hypotonia, tremor, ocular anomalies, seizures, and non-specific dysmorphic facial features. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction.",
"acronym": "NEDRSO.",
"accession": "DI-06759",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by delayed motor development and developmental regression after the first year of life, followed by progressive spasticity with gait alterations, paraparesis, and oromotor dysfunction. Most individuals have cerebral, cerebellar, or basal ganglia volume loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.",
"acronym": "NEDMAGA.",
"accession": "DI-05190",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}