Human Disease List
GET /api/human_diseases/?format=api&offset=2220&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2240&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2200&ordering=-identifier", "results": [ { "identifier": "Myopathy, myofibrillar, 1.", "acronym": "MFM1.", "accession": "DI-01481", "synonyms": "Arrhythmogenic right ventricular cardiomyopathy 7.; ARVC7.; ARVD7.; Autosomal dominant inclusion body myopathy 1.; CDCD3.; CMD1F and LGMD1D.; Desminopathy primary.; Desmin-related myopathy.; Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy.; Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D.; Dilated cardiomyopathy with conduction defect and muscular dystrophy.; DRM.; Familial arrhythmogenic right ventricular dysplasia 7.; LGMD2R.; Limb-girdle muscular dystrophy 2R.; MFM desmin-related.; Muscular dystrophy, limb-girdle, type 2R.; Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.; Myopathy myofibrillar desmin-related.; ", "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. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells. ", "keywords": "KW-0911:Desmin-related myopathy.; " }, { "identifier": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay.", "acronym": "MPMCD.", "accession": "DI-02638", "synonyms": "Combined mitochondrial complex deficiency.; Myopathy with cataract and combined respiratory chain deficiency.; ", "cross_references": "MeSH; D017240.", "definition": "A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. ", "keywords": "KW-0209:Deafness.; KW-0898:Cataract.; KW-1274:Primary mitochondrial disease.; " }, { "identifier": "Myopathy, mitochondrial, and ataxia.", "acronym": "MMYAT.", "accession": "DI-05086", "synonyms": null, "cross_references": "MeSH; D009468.", "definition": "A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others. ", "keywords": null }, { "identifier": "Myopathy, lactic acidosis, and sideroblastic anemia 3.", "acronym": "MLASA3.", "accession": "DI-04410", "synonyms": null, "cross_references": "MeSH; D000756.", "definition": "A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay. ", "keywords": "KW-1274:Primary mitochondrial disease.; " }, { "identifier": "Myopathy, isolated mitochondrial, autosomal dominant.", "acronym": "IMMD.", "accession": "DI-04333", "synonyms": null, "cross_references": "MeSH; D017240.", "definition": "A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. ", "keywords": null }, { "identifier": "Myopathy, epilepsy, and progressive cerebral atrophy.", "acronym": "MEPCA.", "accession": "DI-05924", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy. ", "keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Myopathy due to myoadenylate deaminase deficiency.", "acronym": "MMDD.", "accession": "DI-00039", "synonyms": "Adenosine monophosphate deaminase deficiency muscle type.; AMPD1 deficiency.; AMP deaminase deficiency muscle type.; MAD deficiency.; Myoadenylate deaminase deficiency.; ", "cross_references": "MeSH; D008661.", "definition": "A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. ", "keywords": null }, { "identifier": "Myopathy, distal, with rimmed vacuoles.", "acronym": "DMRV.", "accession": "DI-04886", "synonyms": "MSP4.; Multisystem proteinopathy 4.; ", "cross_references": "MeSH; D009135.", "definition": "An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles. ", "keywords": null }, { "identifier": "Myopathy, distal, Tateyama type.", "acronym": "MPDT.", "accession": "DI-03297", "synonyms": null, "cross_references": "MeSH; D049310.", "definition": "A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. ", "keywords": null }, { "identifier": "Myopathy, distal, 7, adult-onset, X-linked.", "acronym": "MPD7.", "accession": "DI-06378", "synonyms": null, "cross_references": "MeSH; D009135.", "definition": "An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. ", "keywords": null }, { "identifier": "Myopathy, distal, 6, adult onset, autosomal dominant.", "acronym": "MPD6.", "accession": "DI-05701", "synonyms": null, "cross_references": "MeSH; D009135.", "definition": "An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles. ", "keywords": null }, { "identifier": "Myopathy, distal, 5.", "acronym": "MPD5.", "accession": "DI-04761", "synonyms": null, "cross_references": "MeSH; D049310.", "definition": "A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. ", "keywords": null }, { "identifier": "Myopathy, distal, 4.", "acronym": "MPD4.", "accession": "DI-03144", "synonyms": "Williams distal myopathy.; ", "cross_references": "MeSH; D049310.", "definition": "A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation. ", "keywords": null }, { "identifier": "Myopathy, distal, 3.", "acronym": "MPD3.", "accession": "DI-06754", "synonyms": "Finnish upper limb onset distal myopathy.; ", "cross_references": "MeSH; D049310.", "definition": "An autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles. ", "keywords": null }, { "identifier": "Myopathy, distal, 1.", "acronym": "MPD1.", "accession": "DI-01873", "synonyms": "Distal myopathy 1.; Laing distal myopathy.; Laing early-onset distal myopathy.; Myopathy distal early-onset autosomal dominant.; Myopathy late distal hereditary.; ", "cross_references": "MeSH; D049310.", "definition": "A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. ", "keywords": null }, { "identifier": "Myopathy, centronuclear, X-linked.", "acronym": "CNMX.", "accession": "DI-00254", "synonyms": "MTM1.; Myotubular myopathy type 1.; X-linked myotubular myopathy.; XLMTM.; ", "cross_references": "MeSH; D020914.", "definition": "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ", "keywords": null }, { "identifier": "Myopathy, centronuclear, 6, with fiber-type disproportion.", "acronym": "CNM6.", "accession": "DI-05139", "synonyms": null, "cross_references": "MeSH; D020914.", "definition": "A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. ", "keywords": null }, { "identifier": "Myopathy, centronuclear, 5.", "acronym": "CNM5.", "accession": "DI-04210", "synonyms": null, "cross_references": "MeSH; D020914.", "definition": "A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. ", "keywords": null }, { "identifier": "Myopathy, centronuclear, 4.", "acronym": "CNM4.", "accession": "DI-03519", "synonyms": null, "cross_references": "MeSH; D020914.", "definition": "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ", "keywords": null }, { "identifier": "Myopathy, centronuclear, 2.", "acronym": "CNM2.", "accession": "DI-00253", "synonyms": "Autosomal recessive myotubular myopathy.; Centronuclear myopathy autosomal recessive.; ", "cross_references": "MeSH; D020914.", "definition": "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ", "keywords": null } ] }