Human Disease List
GET /api/human_diseases/?format=api&offset=2080&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2100&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=-identifier", "results": [ { "identifier": "Neurodegeneration with brain iron accumulation 2B.", "acronym": "NBIA2B.", "accession": "DI-02043", "synonyms": "Atypical neuroaxonal dystrophy.; Karak syndrome.; Neurodegeneration with brain iron accumulation PLA2G6-related.; ", "cross_references": "MeSH; D019189.", "definition": "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration with brain iron accumulation 2A.", "acronym": "NBIA2A.", "accession": "DI-01819", "synonyms": "INAD.; INAD1.; Infantile neuroaxonal dystrophy.; Infantile neuroaxonal dystrophy 1.; Neurodegeneration PLA2G6-associated.; PLAN.; Seitelberger disease.; ", "cross_references": "MeSH; D019150.", "definition": "A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration with brain iron accumulation 1.", "acronym": "NBIA1.", "accession": "DI-02126", "synonyms": "Hallervorden-Spatz syndrome.; HARP.; HSS.; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration.; Pantothenate kinase-associated neurodegeneration.; PKAN.; PKAN neuroaxonal dystrophy juvenile-onset.; ", "cross_references": "MeSH; D006211.", "definition": "Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.", "acronym": "NADGP.", "accession": "DI-04862", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration with ataxia and late-onset optic atrophy.", "acronym": "NDAXOA.", "accession": "DI-06073", "synonyms": null, "cross_references": "MeSH; D019636.", "definition": "An autosomal dominant disorder characterized by slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment. Disease onset is usually in mid-adulthood. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.", "acronym": "NDCAMA.", "accession": "DI-05576", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration due to cerebral folate transport deficiency.", "acronym": "NCFTD.", "accession": "DI-02630", "synonyms": null, "cross_references": "MeSH; D019636.", "definition": "An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, with progressive microcephaly.", "acronym": "CONPM.", "accession": "DI-06403", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay apparent from infancy. Most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss. ", "keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction.", "acronym": "CONDMIM.", "accession": "DI-06533", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "An autosomal recessive disorder characterized primarily by global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have non-specific abnormalities on brain imaging. Death in childhood may occur. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities.", "acronym": "CONRIBA.", "accession": "DI-06027", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal dominant, progressive, neurodegenerative disorder characterized by severe global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, impaired motor development, respiratory insufficiency, and feeding difficulties. Most patients have visual defects, including cortical visual blindness, nystagmus, and esotropia. Brain imaging shows abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Disease onset is in infancy or early childhood. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, with cerebellar atrophy.", "acronym": "CONDCA.", "accession": "DI-05457", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline.", "acronym": "CONDCAC.", "accession": "DI-06807", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "A neurodegenerative disorder characterized by early-onset ataxia, dysarthria, cognitive decline, sensorimotor axonal neuropathy and muscle weakness. Brain imaging shows cerebellar atrophy. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, with brain atrophy.", "acronym": "CONDBA.", "accession": "DI-05101", "synonyms": null, "cross_references": "MeSH; D019636.", "definition": "An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability. ", "keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; " }, { "identifier": "Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline.", "acronym": "CONATOC.", "accession": "DI-05829", "synonyms": null, "cross_references": "MeSH; D056784.", "definition": "An autosomal recessive neurodegenerative disease characterized by progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrates cerebellar atrophy and leukoencephalopathy. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.", "acronym": "CONDSIAS.", "accession": "DI-05374", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Neurodegeneration and seizures due to copper transport defect.", "acronym": "NSCT.", "accession": "DI-06639", "synonyms": null, "cross_references": "MeSH; D020739.", "definition": "An autosomal recessive disorder of copper metabolism characterized by global developmental delay, seizures, cortical and cerebellar atrophy, and axial hypotonia. Death in infancy may occur. ", "keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; " }, { "identifier": "Neurocardiofaciodigital syndrome.", "acronym": "NCFD.", "accession": "DI-06420", "synonyms": null, "cross_references": "MeSH; D017880.", "definition": "An autosomal recessive syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies. ", "keywords": null }, { "identifier": "Neuroblastoma 3.", "acronym": "NBLST3.", "accession": "DI-02632", "synonyms": null, "cross_references": "MeSH; D009447.", "definition": "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. ", "keywords": null }, { "identifier": "Neuroblastoma 2.", "acronym": "NBLST2.", "accession": "DI-02631", "synonyms": null, "cross_references": "MeSH; D009447.", "definition": "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. ", "keywords": null }, { "identifier": "Neuroblastoma 1.", "acronym": "NBLST1.", "accession": "DI-02633", "synonyms": null, "cross_references": "MeSH; D009447.", "definition": "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. ", "keywords": null } ] }