Human Disease List
GET /api/human_diseases/?format=api&offset=1980&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2000&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1960&ordering=-identifier", "results": [ { "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, 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, 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, cataracts, and renal abnormalities.", "acronym": "NEDMCR.", "accession": "DI-05220", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging. ", "keywords": null }, { "identifier": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures.", "acronym": "NEDMAS.", "accession": "DI-05110", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies.", "acronym": "NEDMABA.", "accession": "DI-05678", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with microcephaly and structural brain anomalies.", "acronym": "NEDMIBA.", "accession": "DI-05606", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities.", "acronym": "NEDMSBA.", "accession": "DI-06654", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder apparent from early infancy and characterized by global developmental delay, delayed or absent walking, impaired intellectual development, poor or absent speech, and postnatal progressive microcephaly. Additional variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain anomalies including myelination defects, cortical atrophy, or thin corpus callosum are present in most patients. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with microcephaly and movement abnormalities.", "acronym": "NEDMIM.", "accession": "DI-06721", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with language impairment ranging from delayed speech to non-verbal, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly, non-specific dysmorphic features and short stature. Additional variable features include ocular defects, seizures, brain malformations, and skeletal defects. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with microcephaly and gray sclerae.", "acronym": "NEDMIGS.", "accession": "DI-04776", "synonyms": "MRT55.; ", "cross_references": "MeSH; D008607.", "definition": "An autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder.", "acronym": "NEDLAAD.", "accession": "DI-06881", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder with variable expressivity and incomplete penetrance. It is characterized by language impairment, speech delay, intellectual disability, attention deficit hyperactivity disorder and autism spectrum disorder. Additional variable features include developmental delay, seizures, skeletal anomalies, respiratory difficulties, and ophthalmologic anomalies. ", "keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; " }, { "identifier": "Neurodevelopmental disorder with language impairment and behavioral abnormalities.", "acronym": "NEDLIB.", "accession": "DI-05861", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities, such as autism spectrum disorder, repetitive behaviors, and hyperactivity. Some patients develop seizures and manifest developmental regression. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; " }, { "identifier": "Neurodevelopmental disorder with language delay and variable cognitive abnormalities.", "acronym": "NEDLC.", "accession": "DI-06758", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by language delay ranging from mild to severe, varying degrees of intellectual disability, and learning difficulties. Additional features include early motor delay, muscular hypotonia, behavioral abnormalities, sleep disorders, and seizures. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with language delay and seizures.", "acronym": "NEDLDS.", "accession": "DI-06427", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, speech delay, and seizures. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and non-specific dysmorphic features or brain imaging abnormalities. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures.", "acronym": "NEDLBAS.", "accession": "DI-06631", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with intellectual disability of varying severity, speech and motor delay, and behavioral abnormalities, including autistic features. About half of patients develop seizures. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with involuntary movements.", "acronym": "NEDIM.", "accession": "DI-05010", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum. ", "keywords": null }, { "identifier": "Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity.", "acronym": "NEDIHSS.", "accession": "DI-06684", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disease characterized by prenatal or neonatal onset of intracranial hemorrhage, ventriculomegaly and cerebral calcifications. Affected individuals have profound global developmental delay, intellectual disability, epilepsy, absent or severely delayed speech, and varying degrees of spasticity. Death in utero or in early childhood may occur. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies.", "acronym": "NEDITPO.", "accession": "DI-06480", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with infantile epileptic spasms.", "acronym": "NEDIES.", "accession": "DI-06137", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with impaired speech and hyperkinetic movements.", "acronym": "NEDISHM.", "accession": "DI-05564", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some patients develop seizures. ", "keywords": "KW-0991:Intellectual disability.; " } ] }