Human Disease List
GET /api/human_diseases/?format=api&offset=2040&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2020&ordering=-identifier", "results": [ { "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 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 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 and thin corpus callosum.", "acronym": "NEDDFAC.", "accession": "DI-06198", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities.", "acronym": "NEDDFSB.", "accession": "DI-06523", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, corpus callosum structural defects and cerebellar hypoplasia on brain imaging, poor overall growth, facial dysmorphism, and skeletal defects. Variable additional findings include hypotonia, seizures, and ocular defects. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia.", "acronym": "NEDFIH.", "accession": "DI-06588", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by moderate to severe global developmental delay, facial dysmorphism, and ischiopubic synchondrosis hypoplasia. Affected individuals show infection- triggered lymphopenia, and loss of developmental milestones associated with epileptic spasms. Diminished white matter volume, enlarged ventricles, and thin corpus callosum are visible on brain imaging. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies.", "acronym": "NEDDFSA.", "accession": "DI-05703", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioral abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.", "acronym": "NEDDFL.", "accession": "DI-05137", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia.", "acronym": "NEDFACH.", "accession": "DI-06096", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures. ", "keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities.", "acronym": "NEDFBA.", "accession": "DI-06735", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, hypotonia, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients have variable skeletal and cardiac anomalies. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects.", "acronym": "NEDCDS.", "accession": "DI-06524", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic dysmorphic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism.", "acronym": "NEDCAFD.", "accession": "DI-06068", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay apparent from birth, moderate-to-severe intellectual disability, poor or absent speech, and hypotonia. Most patients have variable dysmorphic facial features. Brain imaging shows corpus callosum agenesis, mild ventriculomegaly, simplified gyral pattern, and cerebral atrophy. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with cerebellar hypoplasia and spasticity.", "acronym": "NEDCHS.", "accession": "DI-05657", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.", "acronym": "NEDCAS.", "accession": "DI-05303", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.", "acronym": "NEDCAM.", "accession": "DI-06113", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay with predominantly motor abnormalities, axial hypotonia with decreased or absent reflexes, gait ataxia and appendicular spasticity. Affected individuals have cognitive impairment and speech delay. Brain imaging shows cerebellar atrophy. ", "keywords": null }, { "identifier": "Neurodevelopmental disorder with central hypotonia and dysmorphic facies.", "acronym": "NEDCHF.", "accession": "DI-06368", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disease characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and non-specific brain abnormalities. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with central and peripheral motor dysfunction.", "acronym": "NEDCPMD.", "accession": "DI-05508", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy. ", "keywords": null }, { "identifier": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies.", "acronym": "NDCAGF.", "accession": "DI-05656", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.", "acronym": "NEDCASB.", "accession": "DI-05985", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, moderate to severe intellectual disability, spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients also exhibit dysmorphic features and congenital microcephaly. Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Brain imaging shows corpus callosum abnormalities in all patients, and perisylvian polymicrogyria-like pattern in some individuals. ", "keywords": "KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis.", "acronym": "NEDBSS.", "accession": "DI-05663", "synonyms": "Glycosylphosphatidylinositol biosynthesis defect 21.; GPIBD21.; ", "cross_references": "MeSH; D008607.", "definition": "An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " } ] }