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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4700",
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"results": [
{
"identifier": "Neurodevelopmental disorder with dysmorphic facies and variable seizures.",
"acronym": "NEDDFAS.",
"accession": "DI-06069",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay apparent in early childhood, mildly impaired intellectual development, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients may have seizures, brain imaging abnormalities, mild skeletal defects, and renal abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia.",
"acronym": "NEDDISH.",
"accession": "DI-05909",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities.",
"acronym": "NEDFASB.",
"accession": "DI-05983",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by severe global developmental delay, intellectual disability, poor or absent language, behavioral abnormalities, severe sleep disturbance, seizures, cerebral malformations, and craniofacial dysmorphism. Progressive cerebellar atrophy is also observed. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities.",
"acronym": "NEDDSBA.",
"accession": "DI-04086",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 9.; GPIBD9.; MRT42.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non- specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with dystonia and seizures.",
"acronym": "NEDDS.",
"accession": "DI-06428",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, inability to walk or speak, profoundly impaired intellectual development, and early-onset dystonia. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities.",
"acronym": "NEDPBA.",
"accession": "DI-06861",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder manifesting in late infancy or early childhood. It is characterized by developmental delay, intellectual disability, learning difficulties, behavioral abnormalities, and parkinsonism and spasticity usually developing in the third or fourth decades. ",
"keywords": "KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with epilepsy and brain atrophy.",
"acronym": "NEDEBA.",
"accession": "DI-06456",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, early-onset progressive myoclonus epilepsy and ataxia. Brain imaging shows progressive atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with epilepsy and hemochromatosis.",
"acronym": "NEDEPH.",
"accession": "DI-06376",
"synonyms": "FCCS.; Ferro-cerebro-cutaneous syndrome.; ",
"cross_references": "MeSH; D065886.",
"definition": "An X-liked recessive disorder characterized by severe developmental delay, intellectual disability, early-onset epilepsy, and early systemic iron overload resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.",
"acronym": "NEDEHCC.",
"accession": "DI-05312",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.",
"acronym": "NECFM.",
"accession": "DI-04969",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.",
"acronym": "NEDESBA.",
"accession": "DI-05749",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with eye movement abnormalities and ataxia.",
"acronym": "NEDEMA.",
"accession": "DI-06525",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder apparent from infancy and characterized by global developmental delay, intellectual disability, speech difficulties, ataxia, seizures, and abnormalities of eye movement. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly.",
"acronym": "NEDFLPH.",
"accession": "DI-06513",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder with onset in infancy and characterized by global developmental delay, intellectual disability, dysmorphic facial features, coarse facies, and behavioral problems. Affected individuals may have variable findings on brain imaging, such as cortical atrophy, thin corpus callosum and enlarged ventricles. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity.",
"acronym": "NEDFCF.",
"accession": "DI-04004",
"synonyms": "MRT40.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities.",
"acronym": "NEDGFC.",
"accession": "DI-06545",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, and absent speech. Patients have microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hearing loss and spasticity.",
"acronym": "NEDHLS.",
"accession": "DI-06272",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by hearing loss, global developmental delay, impaired intellectual development, hypotonia, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. ",
"keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities.",
"acronym": "NEDHSB.",
"accession": "DI-04554",
"synonyms": "EHLMRS.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. ",
"keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hyperkinetic movements and dyskinesia.",
"acronym": "NEDHYD.",
"accession": "DI-06286",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay, axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities.",
"acronym": "NEDMSB.",
"accession": "DI-06859",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by failure to thrive, global developmental delay with intellectual disability and absent speech, seizures, hypotonia, inability to walk, orofacial dyskinesia, involuntary movements, and structural brain abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements.",
"acronym": "NEDHAHM.",
"accession": "DI-05751",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}