{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1920&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1880&ordering=-identifier","results":[{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 3.","acronym":"HMND3.","accession":"DI-00401","synonyms":"dHMN2B.; dHMN II.; Distal hereditary motor neuropathy type IIB.; HMN2B.; HMN IIB.; Neuronopathy, distal hereditary motor, 2B.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 2.","acronym":"HMND2.","accession":"DI-00400","synonyms":"Charcot-Marie-Tooth disease spinal IIA.; dHMN2A.; Distal hereditary motor neuropathy type IIA.; HMN2A.; HMN IIA.; Neuronopathy, distal hereditary motor, 2A.; Spinal muscular atrophy distal adult autosomal dominant IIA.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 14.","acronym":"HMND14.","accession":"DI-00404","synonyms":"dHMN7B.; Distal hereditary motor neuropathy type VIIB.; Distal hereditary motor neuropathy with vocal cord paralysis type VIIB.; HMN7B.; HMN VIIB.; Lower motor neuron disease dynactin type.; Neuronopathy, distal hereditary motor, 7B.; PLMND.; Progressive lower motor neuron disease.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 13.","acronym":"HMND13.","accession":"DI-05984","synonyms":"DHMN5C.; Distal hereditary motor neuronopathy type VC.; Distal spinal muscular atrophy type 5C.; DSMA5C.; DSMAVC.; HMN5C.; Neuronopathy, distal hereditary motor, 5C.; Neuronopathy, distal hereditary motor, type VC.; Spinal muscular atrophy, distal, type 5C.; Spinal muscular atrophy, distal, type VC.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND13 is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMND13 patients show axonal peripheral neuropathy and distal sensory impairment. HMND13 inheritance is autosomal dominant with incomplete penetrance. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 12.","acronym":"HMND12.","accession":"DI-03508","synonyms":"DHMN5B.; DHMN VB.; Distal hereditary motor neuropathy type VB.; DSMAVB.; HMN5B.; HMN VB.; Neuronopathy, distal hereditary motor, 5B.; Spinal muscular atrophy distal type VB.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND12 is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 11.","acronym":"HMND11.","accession":"DI-06766","synonyms":null,"cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND11 is an autosomal dominant form with incomplete penetrance, characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 10.","acronym":"HMND10.","accession":"DI-06528","synonyms":"DHMN10.; HMN10.; Neuronopathy, distal hereditary motor, 10.; Neuronopathy, distal hereditary motor, type X.; Neuropathy, distal hereditary motor, type X.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length- dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronal intranuclear inclusion disease.","acronym":"NIID.","accession":"DI-05726","synonyms":null,"cross_references":"MeSH; D019636.","definition":"An autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neuromyotonia and axonal neuropathy, autosomal recessive.","acronym":"NMAN.","accession":"DI-03603","synonyms":"Gamstorp-Wohlfart syndrome.; Myokymia myotonia and muscle wasting.; ","cross_references":"MeSH; D020386.","definition":"An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuromuscular oculoauditory syndrome.","acronym":"NMOAS.","accession":"DI-05734","synonyms":"Neuromuscular disease and ocular or auditory anomalies with or without seizures.; ","cross_references":"MeSH; D009468.","definition":"An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuromuscular disorder, congenital, with dysmorphic facies.","acronym":"NMDF.","accession":"DI-06879","synonyms":null,"cross_references":"MeSH; D009468.","definition":"An autosomal recessive neuromuscular disorder characterized by multiple congenital joint contractures, hypotonia, muscle weakness, and facial dysmorphism. Patients may also exhibit motor delay, speech delay, impaired intellectual development, and abnormal brain imaging. ","keywords":null},{"identifier":"Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2.","acronym":"IMNEPD2.","accession":"DI-06161","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder with variable clinical manifestations and severity. Main features include cholestatic hepatitis, poor feeding, poor overall growth, and hypoglycemia apparent from infancy. Most patients have variable global developmental delay, sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Death in early childhood may occur. ","keywords":null},{"identifier":"Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.","acronym":"IMNEPD1.","accession":"DI-04353","synonyms":"IMNEPD.; ","cross_references":"MeSH; D000015.","definition":"A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency. ","keywords":null},{"identifier":"Neurogenic scapuloperoneal syndrome Kaeser type.","acronym":"Kaeser syndrome.","accession":"DI-02049","synonyms":null,"cross_references":"MedGen; C1867005.","definition":"Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. ","keywords":null},{"identifier":"Neurofibromatosis-Noonan syndrome.","acronym":"NFNS.","accession":"DI-02047","synonyms":null,"cross_references":"MedGen; C2931482.","definition":"Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. ","keywords":null},{"identifier":"Neurofibromatosis 1.","acronym":"NF1.","accession":"DI-02396","synonyms":"Neurofibromatosis peripheral type.; Von Recklinghausen disease.; von Recklinghausen syndrome.; ","cross_references":"MeSH; D009456.","definition":"A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. ","keywords":null},{"identifier":"Neurofacioskeletal syndrome with or without renal agenesis.","acronym":"NFSRA.","accession":"DI-06053","synonyms":"Neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental, jaw, eye, and digital syndrome.","acronym":"NEDJED.","accession":"DI-05858","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant syndrome characterized by variable features including mild-to-severe developmental delay, speech delay, autistic and/or stereotypical behaviors, ocular anomalies, under- or overdeveloped jaw, and digital anomalies such as brachydactyly, clinodactyly, syndactyly, and contractures. ","keywords":null},{"identifier":"Neurodevelopmental disorder with visual defects and brain anomalies.","acronym":"NEDVIBA.","accession":"DI-05639","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by global developmental delay, speech delay, intellectual disability, structural brain abnormalities, and visual impairments including retinitis pigmentosa and optic atrophy. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with variable motor and language impairment.","acronym":"NEDMIAL.","accession":"DI-05162","synonyms":"Neurodevelopmental disorder with severe motor impairment and absent language.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities. ","keywords":"KW-0991:Intellectual disability.; "}]}