{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4860","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4820","results":[{"identifier":"Neuroocular syndrome 2, paroxysmal type.","acronym":"NOC2.","accession":"DI-06892","synonyms":"Benign paroxysmal tonic upgaze of childhood with ataxia.; Paroxysmal tonic upgaze, benign childhood, with ataxia.; ","cross_references":"MeSH; D065886.","definition":"A form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. NOC2 is an autosomal dominant form characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia. Most patients have mildly impaired intellectual development. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurooculocardiogenitourinary syndrome.","acronym":"NOCGUS.","accession":"DI-05698","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur. ","keywords":null},{"identifier":"Neurooculorenal syndrome.","acronym":"NORS.","accession":"DI-06637","synonyms":null,"cross_references":"MeSH; D000013.","definition":"An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neuropathy, ataxia, and retinitis pigmentosa.","acronym":"NARP.","accession":"DI-02048","synonyms":"NARP syndrome.; Neurogenic muscle weakness, ataxia, and retinitis pigmentosa.; ","cross_references":"MeSH; D028361.","definition":"A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. ","keywords":"KW-0622:Neuropathy.; KW-0682:Retinitis pigmentosa.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Neuropathy, congenital hypomyelinating, 1, autosomal recessive.","acronym":"CHN1.","accession":"DI-00358","synonyms":"Charcot-Marie-Tooth disease type 4E.; Charcot-Marie-Tooth neuropathy type 4E.; CMT4E.; Congenital amyelinating neuropathy.; Congenital hypomyelinating neuropathy autosomal recessive.; Neuropathy, congenital hypomyelinating or amyelinating.; Severe congenital hypomyelination.; ","cross_references":"MeSH; D002607.","definition":"A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Neuropathy, congenital hypomyelinating, 2.","acronym":"CHN2.","accession":"DI-05376","synonyms":"Hypomyelinating neuropathy, congenital, 2.; ","cross_references":"MeSH; D015417.","definition":"A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, congenital hypomyelinating, 3.","acronym":"CHN3.","accession":"DI-05377","synonyms":null,"cross_references":"MeSH; D015417.","definition":"A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary motor and sensory, 6A, with optic atrophy.","acronym":"HMSN6A.","accession":"DI-00292","synonyms":"Charcot-Marie-Tooth disease 6.; Charcot-Marie-Tooth disease 6A.; CMT6.; CMT6A.; Hereditary motor and sensory neuropathy type VI.; Hereditary motor and sensory neuropathy type VIA.; HMSN6.; HMSN VI.; HMSN VIA.; Peripheral neuropathy and optic atrophy.; ","cross_references":"MeSH; D015418.","definition":"An autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Neuropathy, hereditary motor and sensory, 6B, with optic atrophy.","acronym":"HMSN6B.","accession":"DI-04538","synonyms":"Charcot-Marie-Tooth disease 6B.; CMT6B.; Hereditary motor and sensory neuropathy type VIB.; HMSN VIB.; Neuropathy, hereditary motor and sensory, type VIB.; ","cross_references":"MeSH; D015418.","definition":"An autosomal recessive neurologic disorder characterized by early- onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Neuropathy, hereditary motor and sensory, 6C, with optic atrophy.","acronym":"HMSN6C.","accession":"DI-05619","synonyms":"Charcot-Marie-Tooth disease 6C.; CMT6C.; Hereditary motor and sensory neuropathy type VIC.; HMSN VIC.; Neuropathy, hereditary motor and sensory, type VIC.; Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy.; ","cross_references":"MeSH; D015418.","definition":"An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Neuropathy, hereditary motor and sensory, Okinawa type.","acronym":"HMSNO.","accession":"DI-03525","synonyms":"Hereditary motor and sensory neuropathy, proximal type.; Hereditary motor and sensory neuropathy Okinawa.; HMSNP.; ","cross_references":"MeSH; D015417.","definition":"A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary motor and sensory, Russe type.","acronym":"HMSNR.","accession":"DI-03795","synonyms":"Charcot-Marie-Tooth disease autosomal recessive type 4G.; Charcot-Marie-Tooth disease type 4G.; Charcot-Marie-Tooth neuropathy type 4G.; CMT4G.; ","cross_references":"MeSH; D015417.","definition":"An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Neuropathy, hereditary sensory, 1D.","acronym":"HSN1D.","accession":"DI-03056","synonyms":"Hereditary sensory neuropathy type ID.; ","cross_references":"MeSH; D009477.","definition":"A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory, 1E.","acronym":"HSN1E.","accession":"DI-03189","synonyms":"Hereditary sensory neuropathy type IE.; HSN IE.; Neuropathy hereditary sensory with hearing loss and dementia.; ","cross_references":"MeSH; D009477.","definition":"A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory, 1F.","acronym":"HSN1F.","accession":"DI-04037","synonyms":"Hereditary sensory neuropathy type IF.; HSN IF.; ","cross_references":"MeSH; D009477.","definition":"An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory, 2C.","acronym":"HSN2C.","accession":"DI-03263","synonyms":"Hereditary sensory neuropathy type IIC.; HSN IICE.; ","cross_references":"MeSH; D009477.","definition":"A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 1A.","acronym":"HSAN1A.","accession":"DI-00547","synonyms":"Hereditary sensory neuropathy type IA.; Hereditary sensory radicular neuropathy autosomal dominant type 1A.; HSAN1.; HSAN IA.; HSN1.; HSN IA.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 1C.","acronym":"HSAN1C.","accession":"DI-02943","synonyms":"Hereditary sensory neuropathy type IC.; HSAN IC.; HSN1C.; HSN IC.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 2A.","acronym":"HSAN2A.","accession":"DI-00548","synonyms":"Acroosteolysis Giaccai type.; Congenital sensory neuropathy.; Hereditary sensory and autonomic neuropathy type IIA.; Hereditary sensory neuropathy type IIA.; Hereditary sensory radicular neuropathy autosomal recessive.; HSAN IIA.; HSN2A.; HSN IIA.; Morvan disease.; Neurogenic acroosteolysis.; Progressive sensory neuropathy of children.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 2B.","acronym":"HSAN2B.","accession":"DI-02529","synonyms":"Hereditary sensory and autonomic neuropathy type IIB.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "}]}