Human Disease List
GET /api/human_diseases/?format=api&offset=2380&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2400&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2360&ordering=-identifier", "results": [ { "identifier": "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.", "acronym": "MMDS2.", "accession": "DI-03294", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. ", "keywords": null }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 1.", "acronym": "MMDS1.", "accession": "DI-03293", "synonyms": "MMDS.; ", "cross_references": "MeSH; D028361.", "definition": "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. ", "keywords": null }, { "identifier": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects.", "acronym": "JDSCD.", "accession": "DI-03269", "synonyms": "Autosomal recessive Larsen syndrome.; Larsen-like syndrome.; Larsen-like syndrome B3GAT3 type.; ", "cross_references": "MeSH; D004204.", "definition": "An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. ", "keywords": null }, { "identifier": "Multiple fibroadenomas of the breast.", "acronym": "MFAB.", "accession": "DI-03981", "synonyms": null, "cross_references": "MeSH; D018226.", "definition": "A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue. ", "keywords": null }, { "identifier": "Multiple familial trichoepithelioma 1.", "acronym": "MFT1.", "accession": "DI-02007", "synonyms": "Brooke-Fordyce trichoepitheliomas.; EAC.; Epithelioma adenoides cysticum of Brooke.; Hereditary multiple benign cystic epithelioma.; ", "cross_references": "MedGen; C1275122.", "definition": "Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia with myopia and conductive deafness.", "acronym": "EDMMD.", "accession": "DI-00790", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 6.", "acronym": "EDM6.", "accession": "DI-01355", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 5.", "acronym": "EDM5.", "accession": "DI-00789", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 4.", "acronym": "EDM4.", "accession": "DI-00788", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 3.", "acronym": "EDM3.", "accession": "DI-00787", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 2.", "acronym": "EDM2.", "accession": "DI-00786", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. ", "keywords": null }, { "identifier": "Multiple epiphyseal dysplasia 1.", "acronym": "EDM1.", "accession": "DI-00785", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. ", "keywords": null }, { "identifier": "Multiple endocrine neoplasia 4.", "acronym": "MEN4.", "accession": "DI-02004", "synonyms": null, "cross_references": "MedGen; C1970712.", "definition": "Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2. ", "keywords": null }, { "identifier": "Multiple congenital anomalies-neurodevelopmental syndrome, X-linked.", "acronym": "MCAND.", "accession": "DI-06024", "synonyms": "Linkage-specific deubiquitylation deficiency-induced embryonic defects.; LINKED syndrome.; ", "cross_references": "MeSH; D065886.", "definition": "An X-linked recessive, congenital disorder characterized by central nervous system, craniofacial, cardiac, skeletal, and genitourinary anomalies. Clinical features include poor growth, short stature, global developmental delay, impaired intellectual development, microcephaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and other variable abnormalities. Brain imaging typically shows ventriculomegaly and thin corpus callosum. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 4.", "acronym": "MCAHS4.", "accession": "DI-05640", "synonyms": "EIEE77.; Epileptic encephalopathy, early infantile, 77.; Glycosylphosphatidylinositol biosynthesis defect 19.; GPIBD19.; ", "cross_references": "MeSH; D013036.", "definition": "An autosomal recessive syndrome characterized by onset of refractory seizures in the first months of life. Additional clinical features include severe global developmental delay, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI). ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 3.", "acronym": "MCAHS3.", "accession": "DI-03879", "synonyms": "Glycosylphosphatidylinositol biosynthesis defect 7.; GPIBD7.; M syndrome.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 2.", "acronym": "MCAHS2.", "accession": "DI-03403", "synonyms": "EIEE20.; Epileptic encephalopathy, early infantile, 20.; FCCS.; Ferro-cerebro-cutaneous syndrome.; Glycosylphosphatidylinositol biosynthesis defect 4.; GPIBD4.; ", "cross_references": "MeSH; D013036.", "definition": "An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 1.", "acronym": "MCAHS1.", "accession": "DI-03203", "synonyms": "Glycosylphosphatidylinositol biosynthesis defect 3.; GPIBD3.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly.", "acronym": "MARCH.", "accession": "DI-05054", "synonyms": "Hydranencephaly with renal aplasia-dysplasia.; ", "cross_references": "MeSH; D007674.", "definition": "An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period. ", "keywords": null }, { "identifier": "Multicentric osteolysis, nodulosis, and arthropathy.", "acronym": "MONA.", "accession": "DI-02374", "synonyms": "Al-Aqeel Sewairi syndrome.; Hereditary multicentric osteolysis.; NAO syndrome.; Nodulosis-arthropathy-osteolysis syndrome.; Torg syndrome.; Torg-Winchester syndrome.; ", "cross_references": "MeSH; D010014.", "definition": "An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. ", "keywords": null } ] }