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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5680&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5640&ordering=-synonyms",
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{
"identifier": "Charcot-Marie-Tooth disease 4C.",
"acronym": "CMT4C.",
"accession": "DI-00288",
"synonyms": "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4C.; Charcot-Marie-Tooth neuropathy type 4C.; ",
"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. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2K.",
"acronym": "CMT2K.",
"accession": "DI-00283",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2K.; Charcot-Marie-Tooth disease neuronal type 2K.; Charcot-Marie-Tooth neuropathy type 2K.; ",
"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. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2J.",
"acronym": "CMT2J.",
"accession": "DI-00282",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2J.; Charcot-Marie-Tooth disease neuronal type 2J.; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities.; Charcot-Marie-Tooth neuropathy type 2J.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0209:Deafness.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2II.",
"acronym": "CMT2II.",
"accession": "DI-06520",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2II.; Charcot-Marie-Tooth neuropathy, type 2II.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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, 2I.",
"acronym": "CMT2I.",
"accession": "DI-00281",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2I.; Charcot-Marie-Tooth disease neuronal type 2I.; Charcot-Marie-Tooth neuropathy type 2I.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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, 2HH.",
"acronym": "CMT2HH.",
"accession": "DI-06245",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2HH.; Charcot-Marie-Tooth neuropathy, type 2HH.; ",
"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. CMT2HH is characterized by vocal fold paresis that remains throughout life and may be severe. Additional features include pes cavus, scoliosis, distal sensory impairment with hyporeflexia, mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2GG.",
"acronym": "CMT2GG.",
"accession": "DI-06681",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2GG.; ",
"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. CMT2GG is an autosomal dominant form characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. Some individuals may also have involvement of the hands. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2P.",
"acronym": "CMT2P.",
"accession": "DI-03339",
"synonyms": "Charcot-Marie-Tooth disease, axonal type 2G.; Charcot-Marie-Tooth disease axonal type 2P.; Charcot-Marie-Tooth neuropathy axonal type 2P.; CMT2G.; ",
"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, 2FF.",
"acronym": "CMT2FF.",
"accession": "DI-06222",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2FF.; Charcot-Marie-Tooth neuropathy, type 2FF.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2F.",
"acronym": "CMT2F.",
"accession": "DI-00280",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2F.; Charcot-Marie-Tooth disease neuronal type 2F.; Charcot-Marie-Tooth neuropathy type 2F.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2EE.",
"acronym": "CMT2EE.",
"accession": "DI-05543",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2EE.; Charcot-Marie-Tooth neuropathy, type 2EE.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive 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. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2E.",
"acronym": "CMT2E.",
"accession": "DI-00279",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2E.; Charcot-Marie-Tooth disease neuronal type 2E.; Charcot-Marie-Tooth neuropathy type 2E.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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, 2DD.",
"acronym": "CMT2DD.",
"accession": "DI-05276",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2DD.; Charcot-Marie-Tooth neuropathy, type 2DD.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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, 2D.",
"acronym": "CMT2D.",
"accession": "DI-00278",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2D.; Charcot-Marie-Tooth disease neuronal type 2D.; Charcot-Marie-Tooth neuropathy type 2D.; ",
"cross_references": "MeSH; D002607.",
"definition": "A 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, 2CC.",
"acronym": "CMT2CC.",
"accession": "DI-04709",
"synonyms": "Charcot-Marie-Tooth disease, axonal, type 2CC.; Charcot-Marie-Tooth neuropathy, type 2CC.; ",
"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, 2B.",
"acronym": "CMT2B.",
"accession": "DI-00276",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2B.; Charcot-Marie-Tooth disease neuronal type 2B.; Charcot-Marie-Tooth neuropathy type 2B.; Hereditary motor and sensory neuropathy IIB.; HMSN2B.; HMSN IIB.; Peripheral sensory neuropathy autosomal dominant.; PSN.; ",
"cross_references": "MeSH; D015417.",
"definition": "A 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, 2A1.",
"acronym": "CMT2A1.",
"accession": "DI-00274",
"synonyms": "Charcot-Marie-Tooth disease axonal type 2A1.; Charcot-Marie-Tooth disease neuronal type 2A1.; Charcot-Marie-Tooth neuropathy type 2A1.; Hereditary motor and sensory neuropathy IIA1.; HMSN2A1.; HMSN IIA1.; ",
"cross_references": "MeSH; D015417.",
"definition": "A 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, 2X.",
"acronym": "CMT2X.",
"accession": "DI-04588",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X.; Charcot-Marie-Tooth disease, axonal, type 2X.; Charcot-Marie-Tooth neuropathy, type 2X.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal recessive, 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. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2T.",
"acronym": "CMT2T.",
"accession": "DI-04343",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T..; Charcot-Marie-Tooth neuropathy, type 2T..; Charcot-Marie-Tooth neuropathy axonal type 2T..; ",
"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, 2S.",
"acronym": "CMT2S.",
"accession": "DI-04308",
"synonyms": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S.; Charcot-Marie-Tooth neuropathy, type 2S.; Charcot-Marie-Tooth neuropathy axonal type 2S.; ",
"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.; "
}
]
}