Human Disease List
GET /api/human_diseases/?format=api&offset=2240&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2260&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2220&ordering=-identifier", "results": [ { "identifier": "Myopathy, centronuclear, 1.", "acronym": "CNM1.", "accession": "DI-00252", "synonyms": "Autosomal dominant myotubular myopathy.; Centronuclear myopathy autosomal dominant.; ", "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, autosomal recessive, with rigid spine and distal joint contractures.", "acronym": "MRRSDC.", "accession": "DI-04804", "synonyms": "LGMD2Y.; Limb-girdle muscular dystrophy 2Y.; Muscular dystrophy, limb-girdle, type 2Y.; ", "cross_references": "MeSH; D049288.", "definition": "An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. ", "keywords": "KW-0947:Limb-girdle muscular dystrophy.; " }, { "identifier": "Myokymia isolated 1.", "acronym": "MK1.", "accession": "DI-00793", "synonyms": null, "cross_references": "MeSH; D020385.", "definition": "A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. ", "keywords": null }, { "identifier": "Myoglobinuria, acute recurrent, autosomal recessive.", "acronym": "ARARM.", "accession": "DI-01227", "synonyms": "Acute recurrent rhabdomyolysis.; Familial paroxysmal paralytic myoglobinuria.; ", "cross_references": "MeSH; D009212.", "definition": "Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. ", "keywords": null }, { "identifier": "Myofibromatosis, infantile 2.", "acronym": "IMF2.", "accession": "DI-03816", "synonyms": null, "cross_references": "MeSH; D018224.", "definition": "A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ", "keywords": null }, { "identifier": "Myofibromatosis, infantile 1.", "acronym": "IMF1.", "accession": "DI-03815", "synonyms": "CGF.; Congenital generalized fibromatosis.; Juvenile myofibromatosis.; ", "cross_references": "MeSH; D018224.", "definition": "A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ", "keywords": null }, { "identifier": "Myoectodermal gonadal dysgenesis syndrome.", "acronym": "MEGD.", "accession": "DI-05558", "synonyms": "Brosnan-Kennerknecht-Guran-Koc syndrome BKGK.; GDRM.; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.; ", "cross_references": "MeSH; D058499.", "definition": "An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. ", "keywords": "KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; " }, { "identifier": "Myoclonus, intractable, neonatal.", "acronym": "NEIMY.", "accession": "DI-04913", "synonyms": null, "cross_references": "MeSH; D004831.", "definition": "An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Myoclonus, familial, 2.", "acronym": "MYOCL2.", "accession": "DI-05513", "synonyms": null, "cross_references": "MeSH; D009207.", "definition": "An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. ", "keywords": null }, { "identifier": "Myoclonus, familial, 1.", "acronym": "MYOCL1.", "accession": "DI-03616", "synonyms": "FCM.; Myoclonus, familial cortical.; ", "cross_references": "MeSH; D009207.", "definition": "An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. ", "keywords": null }, { "identifier": "Myoclonic epilepsy of Lafora 2.", "acronym": "MELF2.", "accession": "DI-06802", "synonyms": null, "cross_references": "MeSH; D020192.", "definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF2 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF2 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. ", "keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; " }, { "identifier": "Myoclonic epilepsy of lafora 1.", "acronym": "MELF1.", "accession": "DI-00954", "synonyms": "Epilepsy, progressive myoclonic 2A.; EPM2.; EPM2A.; Lafora's disease.; Lafora disease.; LD.; MELF.; Myoclonic epilepsy of Lafora.; Progressive myoclonic epilepsy 2.; Progressive myoclonic epilepsy 2A.; Progressive myoclonic epilepsy Lafora type.; ", "cross_references": "MeSH; D020192.", "definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF1 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF1 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. ", "keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; " }, { "identifier": "Myoclonic-atonic epilepsy.", "acronym": "MAE.", "accession": "DI-04457", "synonyms": null, "cross_references": "MeSH; D004832.", "definition": "A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Myocardial infarction 1.", "acronym": "MCI1.", "accession": "DI-02017", "synonyms": "Premature myocardial infarction.; ", "cross_references": "MeSH; D009203.", "definition": "A condition defined by the irreversible necrosis of heart muscle secondary to prolonged ischemia. ", "keywords": null }, { "identifier": "Myhre syndrome.", "acronym": "MYHRS.", "accession": "DI-03349", "synonyms": "Growth-mental deficiency syndrome of Myhre.; LAPS syndrome.; Laryngotracheal stenosis, arthropathy, prognathism, and short stature.; ", "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant syndrome characterized by pre- and postnatal growth deficiency, intellectual disability, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. ", "keywords": null }, { "identifier": "Myeloproliferative/lymphoproliferative neoplasms, familial.", "acronym": "MPLPF.", "accession": "DI-04687", "synonyms": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types).; ", "cross_references": "MeSH; D054437.", "definition": "A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Myeloproliferative disorder chronic with eosinophilia.", "acronym": "MPE.", "accession": "DI-02609", "synonyms": "Malignant proliferation of eosinophils.; ", "cross_references": "MedGen; C1851585.", "definition": "A hematologic disorder characterized by malignant eosinophils proliferation. ", "keywords": null }, { "identifier": "Myeloperoxidase deficiency.", "acronym": "MPOD.", "accession": "DI-02016", "synonyms": "MPO deficiency.; ", "cross_references": "MeSH; D002177.", "definition": "A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. ", "keywords": null }, { "identifier": "Myelofibrosis with myeloid metaplasia.", "acronym": "MMM.", "accession": "DI-03415", "synonyms": "Agnogenic myeloid metaplasia.; Agnogenic myeloid metaplasia with myelofibrosis.; AMMM.; Myelosclerosis with myeloid metaplasia.; ", "cross_references": "MeSH; D009191.", "definition": "A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. ", "keywords": null }, { "identifier": "Myelofibrosis.", "acronym": "MYELOF.", "accession": "DI-02746", "synonyms": "Idiopathic myelofibrosis.; Myelosclerosis.; ", "cross_references": "MeSH; D055728.", "definition": "A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. ", "keywords": null } ] }