{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1700&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1660&ordering=synonyms","results":[{"identifier":"Ehlers-Danlos syndrome, classic-like.","acronym":"EDSCLL1.","accession":"DI-01097","synonyms":"EDS due to TNX deficiency.; Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency.; Ehlers-Danlos syndrome due to tenascin X deficiency.; Tenascin-X deficiency.; TNX deficiency.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL1 patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL1 inheritance is autosomal recessive. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2.","acronym":"EDSKSCL2.","accession":"DI-03408","synonyms":"EDSKMH.; Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.; ","cross_references":"MeSH; D034381.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. ","keywords":"KW-0209:Deafness.; KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Bethlem myopathy 2.","acronym":"BTHLM2.","accession":"DI-04487","synonyms":"EDS, myopathic.; EDSMYP.; Ehlers-Danlos syndrome, myopathic.; ","cross_references":"MeSH; D009136.","definition":"A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM2 inheritance is autosomal dominant. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ehlers-Danlos syndrome, spondylodysplastic type, 2.","acronym":"EDSSPD2.","accession":"DI-03844","synonyms":"EDSP2.; Ehlers-Danlos syndrome, progeroid type, 2.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Myopathy, myofibrillar, 9, with early respiratory failure.","acronym":"MFM9.","accession":"DI-01727","synonyms":"Edstrom myopathy.; Hereditary myopathy with early respiratory failure.; HMERF.; MPRM.; Myopathy, distal, with early respiratory failure, autosomal dominant.; Myopathy, proximal, with early respiratory muscle involvement.; ","cross_references":"MeSH; D009135.","definition":"An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support. ","keywords":"KW-1060:Myofibrillar myopathy.; "},{"identifier":"Developmental and epileptic encephalopathy 94.","acronym":"DEE94.","accession":"DI-03857","synonyms":"EEOC.; Epileptic encephalopathy, childhood-onset.; ","cross_references":"MeSH; D004827.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 9.","acronym":"DEE9.","accession":"DI-01533","synonyms":"EFMR.; EIEE9.; Epileptic encephalopathy, early infantile, 9.; ","cross_references":"MeSH; D013036.","definition":"A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Ehlers-Danlos syndrome, cardiac valvular type.","acronym":"EDSCV.","accession":"DI-01317","synonyms":"Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, spondylodysplastic type, 3.","acronym":"EDSSPD3.","accession":"DI-01517","synonyms":"Ehlers-Danlos syndrome-like spondylocheirodysplasia.; SCD-EDS.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities.","acronym":"NEDHSB.","accession":"DI-04554","synonyms":"EHLMRS.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. ","keywords":"KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Palmoplantar keratoderma, epidermolytic, 1.","acronym":"EPPK1.","accession":"DI-00893","synonyms":"EHPPK.; Epidermolytic Unna-Thost disease.; Keratosis of Greither.; Keratosis palmaris et plantaris familiaris.; Localized epidermolytic hyperkeratosis.; Palmoplantar keratoderma, epidermolytic, with knuckle pads.; Palmoplantar keratoderma, Vorner type.; PPKE.; Tylosis.; ","cross_references":"MeSH; D053546.","definition":"A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK1 inheritance is autosomal dominant. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Developmental and epileptic encephalopathy 11.","acronym":"DEE11.","accession":"DI-02993","synonyms":"EIEE11.; Epileptic encephalopathy, early infantile, 11.; ","cross_references":"MeSH; D013036.","definition":"An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 12.","acronym":"DEE12.","accession":"DI-02994","synonyms":"EIEE12.; Epileptic encephalopathy, early infantile, 12.; ","cross_references":"MeSH; D013036.","definition":"A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 13.","acronym":"DEE13.","accession":"DI-03398","synonyms":"EIEE13.; Epileptic encephalopathy, early infantile, 13.; ","cross_references":"MeSH; D013036.","definition":"A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 14.","acronym":"DEE14.","accession":"DI-03632","synonyms":"EIEE14.; Epileptic encephalopathy, early infantile, 14.; Malignant migrating partial seizures of infancy.; MMPSI.; ","cross_references":"MeSH; D013036.","definition":"A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 15.","acronym":"DEE15.","accession":"DI-03664","synonyms":"EIEE15.; Epileptic encephalopathy, early infantile, 15.; ","cross_references":"MeSH; D013036.","definition":"A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 16.","acronym":"DEE16.","accession":"DI-03823","synonyms":"EIEE16.; Epileptic encephalopathy, early infantile, 16.; ","cross_references":"MeSH; D013036.","definition":"A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 17.","acronym":"DEE17.","accession":"DI-03922","synonyms":"EIEE17.; Epileptic encephalopathy, early infantile, 17.; ","cross_references":"MeSH; D013036.","definition":"A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 18.","acronym":"DEE18.","accession":"DI-03918","synonyms":"EIEE18.; Epileptic encephalopathy, early infantile, 18.; ","cross_references":"MeSH; D013036.","definition":"A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 19.","acronym":"DEE19.","accession":"DI-04092","synonyms":"EIEE19.; Epileptic encephalopathy, early infantile, 19.; ","cross_references":"MeSH; D004827.","definition":"A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. ","keywords":"KW-0887:Epilepsy.; "}]}