{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4640","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4600","results":[{"identifier":"Neu-Laxova syndrome 2.","acronym":"NLS2.","accession":"DI-04253","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. ","keywords":null},{"identifier":"Neural tube defects.","acronym":"NTD.","accession":"DI-02042","synonyms":"Spina bifida.; ","cross_references":"MeSH; D009436.","definition":"Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. ","keywords":null},{"identifier":"Neural tube defects, folate-sensitive.","acronym":"NTDFS.","accession":"DI-01623","synonyms":null,"cross_references":"MedGen; C1866559.","definition":"The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. ","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},{"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 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":"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":"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":"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, 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, 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 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 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 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 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 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 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, 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 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 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.; "}]}