{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=980&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=940&ordering=identifier","results":[{"identifier":"CFHR5 deficiency.","acronym":"CFHR5D.","accession":"DI-03555","synonyms":"Nephropathy due to CFHR5 deficiency.; ","cross_references":"MeSH; D005921.","definition":"A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. ","keywords":null},{"identifier":"Chanarin-Dorfman syndrome.","acronym":"CDS.","accession":"DI-00262","synonyms":"DCS.; Dorfman-Chanarin syndrome.; Ichthyosiform erythroderma with leukocyte vacuolation.; Ichthyotic neutral lipid storage disease.; Neutral lipid storage disease with ichthyosis.; Triglyceride storage disease with impaired long-chain fatty acid oxidation.; ","cross_references":"MeSH; D016113.","definition":"An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; KW-0977:Ichthyosis.; "},{"identifier":"CHAND syndrome.","acronym":"CHANDS.","accession":"DI-05366","synonyms":"Curly hair, ankyloblepharon, nail dysplasia syndrome.; ","cross_references":"MeSH; D009264.","definition":"An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Charcot-Marie-Tooth disease 4A.","acronym":"CMT4A.","accession":"DI-00285","synonyms":"Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A.; Charcot-Marie-Tooth disease neuropathy type 4A.; ","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. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. ","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 4B3.","acronym":"CMT4B3.","accession":"DI-03784","synonyms":"Charcot-Marie-Tooth neuropathy type 4B3.; ","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 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 4D.","acronym":"CMT4D.","accession":"DI-00289","synonyms":"Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D.; Charcot-Marie-Tooth neuropathy type 4D.; Hereditary motor and sensory neuropathy IVD.; Hereditary motor and sensory neuropathy Lom type.; HMSN4D.; HMSN IVD.; HMSNL.; ","cross_references":"MeSH; D015417.","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 4F.","acronym":"CMT4F.","accession":"DI-03559","synonyms":"Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F.; Charcot-Marie-Tooth neuropathy type 4F.; ","cross_references":"MeSH; D015417.","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. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease 4H.","acronym":"CMT4H.","accession":"DI-00290","synonyms":"Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H.; Charcot-Marie-Tooth neuropathy type 4H.; ","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 4J.","acronym":"CMT4J.","accession":"DI-00291","synonyms":null,"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 4K.","acronym":"CMT4K.","accession":"DI-04591","synonyms":"Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K.; Charcot-Marie-Tooth disease, demyelinating, type 4K.; Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K.; Charcot-Marie-Tooth neuropathy, type 4K.; ","cross_references":"MeSH; D002607.","definition":"An autosomal 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. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. ","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, 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, 2A2B.","acronym":"CMT2A2B.","accession":"DI-04811","synonyms":"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.; Charcot-Marie-Tooth disease, axonal, type 2A2B.; ","cross_references":"MeSH; D015417.","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. CMT2A2B is a severe form with autosomal recessive inheritance. ","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, 2B1.","acronym":"CMT2B1.","accession":"DI-00277","synonyms":"Charcot-Marie-Tooth disease axonal autosomal recessive B1.; Charcot-Marie-Tooth disease axonal type 2B1.; Charcot-Marie-Tooth disease neuronal type 2B1.; Charcot-Marie-Tooth neuropathy type 2B1.; ","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. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, axonal, 2B2.","acronym":"CMT2B2.","accession":"DI-02671","synonyms":"ARCMT2B.; Charcot-Marie-Tooth disease axonal autosomal recessive B2.; Charcot-Marie-Tooth disease axonal type 2B2.; Charcot-Marie-Tooth disease neuronal type 2B2.; Charcot-Marie-Tooth neuropathy type 2B2.; ","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. ","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.; "}]}