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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1040&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1000&ordering=synonyms",
"results": [
{
"identifier": "Amyotrophic lateral sclerosis.",
"acronym": "ALS.",
"accession": "DI-00107",
"synonyms": "Charcot disease.; Lou Gehrig disease.; MND.; Motor neuron disease.; ",
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive.",
"acronym": "CMT2RV.",
"accession": "DI-00263",
"synonyms": "Charcot-Marie-Tooth axonal type 4A.; Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive.; CMT2 with vocal cord paresis autosomal recessive.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. 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. ",
"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, 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": "Charcot-Marie-Tooth disease, demyelinating, 1E.",
"acronym": "CMT1E.",
"accession": "DI-00272",
"synonyms": "Charcot-Marie-Tooth disease and deafness autosomal dominant.; Charcot-Marie-Tooth disease demyelinating type 1E.; Charcot-Marie-Tooth neuropathy type 1E.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"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": "Charcot-Marie-Tooth disease 4B1.",
"acronym": "CMT4B1.",
"accession": "DI-00286",
"synonyms": "Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B1.; Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B1.; Charcot-Marie-Tooth disease type 4B.; Charcot-Marie-Tooth neuropathy type 4B1.; CMT4B.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4B2.",
"acronym": "CMT4B2.",
"accession": "DI-00287",
"synonyms": "Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B2.; Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B2.; Charcot-Marie-Tooth neuropathy type 4B2.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2C.",
"acronym": "CMT2C.",
"accession": "DI-02687",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant 2C.; Charcot-Marie-Tooth disease axonal type 2C.; Charcot-Marie-Tooth neuropathy type 2C.; Hereditary motor and sensory neuropathy type IIC.; HMSN2C.; HMSN IIC.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2A2A.",
"acronym": "CMT2A2A.",
"accession": "DI-00275",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A.; Charcot-Marie-Tooth disease axonal type 2A2.; Charcot-Marie-Tooth disease neuronal type 2A2.; Charcot-Marie-Tooth neuropathy type 2A2.; CMT2A2.; Hereditary motor and sensory neuropathy IIA2.; HMSN2A2.; HMSN IIA2.; ",
"cross_references": "MeSH; D015417.",
"definition": "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2L.",
"acronym": "CMT2L.",
"accession": "DI-00284",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant type 2L.; Charcot-Marie-Tooth disease axonal type 2L.; Charcot-Marie-Tooth disease neuronal type 2L.; Charcot-Marie-Tooth neuropathy type 2L.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2M.",
"acronym": "CMT2M.",
"accession": "DI-03481",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant type 2M.; Charcot-Marie-Tooth disease axonal type 2M.; Charcot-Marie-Tooth neuropathy axonal type 2M.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2N.",
"acronym": "CMT2N.",
"accession": "DI-02678",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant type 2N.; Charcot-Marie-Tooth disease axonal type 2N.; Charcot-Marie-Tooth neuropathy axonal type 2N.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2O.",
"acronym": "CMT2O.",
"accession": "DI-03264",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant type 2O.; Charcot-Marie-Tooth disease axonal type 2O.; Charcot-Marie-Tooth neuropathy axonal type 2O.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2Q.",
"acronym": "CMT2Q.",
"accession": "DI-03672",
"synonyms": "Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q.; Charcot-Marie-Tooth disease axonal type 2Q.; Charcot-Marie-Tooth neuropathy, type 2Q.; Charcot-Marie-Tooth neuropathy axonal type 2Q.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2U.",
"acronym": "CMT2U.",
"accession": "DI-04362",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U.; Charcot-Marie-Tooth neuropathy, type 2U.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2V.",
"acronym": "CMT2V.",
"accession": "DI-04496",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V.; Charcot-Marie-Tooth disease, axonal, type 2V.; Charcot-Marie-Tooth neuropathy, type 2V.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2W.",
"acronym": "CMT2W.",
"accession": "DI-04574",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W.; Charcot-Marie-Tooth disease, axonal, type 2W.; Charcot-Marie-Tooth neuropathy, type 2W.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2W patients manifest a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Most patients also have upper limb involvement. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2Y.",
"acronym": "CMT2Y.",
"accession": "DI-04589",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y.; Charcot-Marie-Tooth disease, axonal, type 2Y.; Charcot-Marie-Tooth neuropathy, type 2Y.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
}
]
}