{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4160&ordering=-synonyms","results":[{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C5.","acronym":"MDDGC5.","accession":"DI-00666","synonyms":"LGMD2I.; LGMDR9.; Limb-girdle muscular dystrophy type 2I.; Muscular dystrophy, limb-girdle, autosomal recessive 9.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.; Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 8.","acronym":"LGMDR8.","accession":"DI-00665","synonyms":"LGMD2H.; Limb-girdle muscular dystrophy 2H.; Muscular dystrophy, limb-girdle, type 2H.; Muscular dystrophy Hutterite type.; Sarcotubular myopathy.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 7.","acronym":"LGMDR7.","accession":"DI-00664","synonyms":"LGMD2G.; Limb-girdle muscular dystrophy 2G.; Muscular dystrophy, limb-girdle, type 2G.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 6.","acronym":"LGMDR6.","accession":"DI-00663","synonyms":"LGMD2F.; Limb-girdle muscular dystrophy 2F.; Muscular dystrophy, limb-girdle, type 2F.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 4.","acronym":"LGMDR4.","accession":"DI-00662","synonyms":"LGMD2E.; Limb-girdle muscular dystrophy 2E.; Muscular dystrophy, limb-girdle, type 2E.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 2.","acronym":"LGMDR2.","accession":"DI-00659","synonyms":"LGMD2B.; LGMD3.; Limb-girdle muscular dystrophy 2B.; Muscular dystrophy, limb-girdle, type 2B.; Muscular dystrophy, limb-girdle, type 3.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Myopathy, myofibrillar, 3.","acronym":"MFM3.","accession":"DI-02022","synonyms":"LGMD1.; LGMD1A.; Limb-girdle muscular dystrophy 1A.; MFM myotilin-related.; Muscular dystrophy, limb-girdle, type 1.; Muscular dystrophy, limb-girdle, type 1A.; Myopathy myofibrillar myotylin-related.; Myotilinopathy.; Spheroid body myopathy.; ","cross_references":"MeSH; D020914.","definition":"A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. ","keywords":"KW-1060:Myofibrillar myopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 4.","acronym":"LGMDD4.","accession":"DI-05338","synonyms":"LGMD1I.; Muscular dystrophy, limb-girdle, type 1I.; ","cross_references":"MeSH; D049288.","definition":"A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 3.","acronym":"LGMDD3.","accession":"DI-04211","synonyms":"LGMD1G.; Limb-girdle muscular dystrophy 1G.; Muscular dystrophy, limb-girdle, type 1G.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 2.","acronym":"LGMDD2.","accession":"DI-04143","synonyms":"LGMD1F.; Limb-girdle muscular dystrophy 1F.; Muscular dystrophy, limb-girdle, type 1F.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 1.","acronym":"LGMDD1.","accession":"DI-03434","synonyms":"LGMD1D.; LGMD1E.; Limb-girdle muscular dystrophy 1E.; Limb-girdle muscular dystrophy type 1D.; MDRV.; Muscular dystrophy, autosomal dominant, with rimmed vacuoles.; Muscular dystrophy, limb-girdle, type 1D.; Muscular dystrophy, limb-girdle, type 1E.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Rippling muscle disease 2.","acronym":"RMD2.","accession":"DI-02270","synonyms":"LGMD1C.; Limb-girdle muscular dystrophy 1C.; Muscular dystrophy, limb-girdle, type 1C.; ","cross_references":"MeSH; D009135.","definition":"A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Li-Fraumeni syndrome.","acronym":"LFS.","accession":"DI-01904","synonyms":"LFL.; Sarcoma family syndrome of Li and Fraumeni.; SBLA syndrome Li-Fraumeni-like syndrome.; ","cross_references":"MeSH; D016864.","definition":"An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. ","keywords":null},{"identifier":"L-ferritin deficiency.","acronym":"LFTD.","accession":"DI-04015","synonyms":"L-ferritin deficiency dominant and recessive.; ","cross_references":"MeSH; D019189.","definition":"A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency. ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 3.","acronym":"NDNC3.","accession":"DI-03200","synonyms":"Leukonychia partialis.; Leukonychia punctata.; Leukonychia striatus.; Leukonychia totalis.; Leukonychia totalis and/or partialis.; Porcelain nails.; ","cross_references":"MeSH; D009260.","definition":"A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). ","keywords":null},{"identifier":"Leukoencephalopathy with vanishing white matter 4.","acronym":"VWM4.","accession":"DI-06650","synonyms":"Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure.; ","cross_references":"MeSH; D056784.","definition":"An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukoencephalopathy with vanishing white matter 3.","acronym":"VWM3.","accession":"DI-06649","synonyms":"Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure.; ","cross_references":"MeSH; D056784.","definition":"An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukoencephalopathy with vanishing white matter 2.","acronym":"VWM2.","accession":"DI-06648","synonyms":"Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure.; ","cross_references":"MeSH; D056784.","definition":"An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Combined oxidative phosphorylation deficiency 12.","acronym":"COXPD12.","accession":"DI-03612","synonyms":"Leukoencephalopathy with thalamus and brainstem involvement and high lactate.; LTBL.; ","cross_references":"MeSH; D017237.","definition":"An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2- weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Megalencephalic leukoencephalopathy with subcortical cysts 1.","acronym":"MLC1.","accession":"DI-01960","synonyms":"Leukoencephalopathy with swelling and cysts.; LVM.; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts.; Van der Knaap disease.; VL.; ","cross_references":"MeSH; D056784.","definition":"A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild intellectual disability. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. ","keywords":null}]}