{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6180&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6140&ordering=-identifier","results":[{"identifier":"Basilicata-Akhtar syndrome.","acronym":"MRXSBA.","accession":"DI-05649","synonyms":"MRXS36.; ","cross_references":"MeSH; D038901.","definition":"An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Basel-Vanagaite-Smirin-Yosef syndrome.","acronym":"BVSYS.","accession":"DI-04474","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Basan syndrome.","acronym":"BSNS.","accession":"DI-04977","synonyms":"Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities.; Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease.; ","cross_references":"MeSH; D012868.","definition":"An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Basal laminar drusen.","acronym":"BLD.","accession":"DI-02606","synonyms":"Drusen cuticular.; Drusen early adult-onset grouped.; Drusen of Bruch membrane.; ","cross_references":"MeSH; D015593.","definition":"Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. ","keywords":null},{"identifier":"Basal ganglia disease, biotin-thiamine responsive.","acronym":"BBTGD.","accession":"DI-01284","synonyms":"BBGD.; Biotin-responsive basal ganglia disease.; BTBGD.; Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type.; Thiamine-responsive encephalopathy.; THMD2.; ","cross_references":"MeSH; D001480.","definition":"An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 9, autosomal recessive.","acronym":"IBGC9.","accession":"DI-06885","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 8, autosomal recessive.","acronym":"IBGC8.","accession":"DI-05778","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 7, autosomal recessive.","acronym":"IBGC7.","accession":"DI-05477","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 6.","acronym":"IBGC6.","accession":"DI-04453","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 5.","acronym":"IBGC5.","accession":"DI-03923","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 4.","acronym":"IBGC4.","accession":"DI-03665","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 1.","acronym":"IBGC1.","accession":"DI-03407","synonyms":"Autosomal dominant adult-onset striopallidodentate calcinosis.; Bilateral striopallidodentate calcinosis.; BSPDC.; Cerebrovascular ferrocalcinosis.; Familial Fahr disease.; IBGC2.; IBGC3.; Idiopathic basal ganglia calcification 2.; Idiopathic basal ganglia calcification 3.; Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification.; PFBC.; Primary familial brain calcification.; ","cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Basal cell nevus syndrome 2.","acronym":"BCNS2.","accession":"DI-06664","synonyms":"NBCCS2.; Nevoid basal cell carcinoma syndrome 2.; ","cross_references":"MeSH; D001478.","definition":"A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. ","keywords":null},{"identifier":"Basal cell nevus syndrome 1.","acronym":"BCNS1.","accession":"DI-00177","synonyms":"Basal cell nevus syndrome.; Gorlin-Goltz syndrome.; Gorlin syndrome.; Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies.; NBCCS.; Nevoid basal cell carcinoma syndrome.; ","cross_references":"MeSH; D001478.","definition":"A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Basal cell carcinoma 7.","acronym":"BCC7.","accession":"DI-03503","synonyms":null,"cross_references":"MeSH; D002280.","definition":"A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ","keywords":null},{"identifier":"Basal cell carcinoma.","acronym":"BCC.","accession":"DI-02338","synonyms":"Multiple basal cell carcinoma.; Non-syndromic basal cell carcinoma.; ","cross_references":"MeSH; D002280.","definition":"A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ","keywords":null},{"identifier":"Bartter syndrome 5, antenatal, transient.","acronym":"BARTS5.","accession":"DI-04715","synonyms":"Bartter syndrome, type 5, antenatal, transient.; ","cross_references":"MeSH; D001477.","definition":"An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. ","keywords":"KW-0910:Bartter syndrome.; "},{"identifier":"Bartter syndrome 4B, neonatal, with sensorineural deafness.","acronym":"BARTS4B.","accession":"DI-02554","synonyms":"Bartter syndrome 4B.; BSND.; Infantile Bartter syndrome with sensorineural deafness.; ","cross_references":"MeSH; D001477.","definition":"A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness. ","keywords":"KW-0209:Deafness.; KW-0910:Bartter syndrome.; "},{"identifier":"Bartter syndrome 4A, neonatal, with sensorineural deafness.","acronym":"BARTS4A.","accession":"DI-00176","synonyms":"Bartter syndrome, neonatal, with sensorineural deafness.; BSND.; Hyperprostanglandin E syndrome 4.; Hypokalemic alkalosis with hypercalciuria antenatal 4.; Infantile Bartter syndrome with sensorineural deafness.; Sensorineural deafness with mild renal dysfunction.; ","cross_references":"MeSH; D001477.","definition":"A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. ","keywords":"KW-0209:Deafness.; KW-0910:Bartter syndrome.; "},{"identifier":"Bartter syndrome 3.","acronym":"BARTS3.","accession":"DI-00175","synonyms":"Classic Bartter syndrome.; ","cross_references":"MeSH; D001477.","definition":"A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. ","keywords":"KW-0910:Bartter syndrome.; "}]}