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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=620&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=580&ordering=synonyms",
"results": [
{
"identifier": "Epilepsy, familial adult myoclonic, 6.",
"acronym": "FAME6.",
"accession": "DI-05297",
"synonyms": "BAFME6.; Benign adult familial myoclonic epilepsy 6.; Cortical myoclonic tremor with epilepsy, familial, 6.; FCMTE6.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 7.",
"acronym": "FAME7.",
"accession": "DI-05298",
"synonyms": "BAFME7.; Benign adult familial myoclonic epilepsy 27.; Cortical myoclonic tremor with epilepsy, familial, 7.; FCMTE7.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 1.",
"acronym": "EPM1.",
"accession": "DI-00952",
"synonyms": "Baltic myoclonic epilepsy.; EPM1A.; Myoclonic epilepsy of Unverricht and Lundborg.; Progressive myoclonic epilepsy 1.; Progressive myoclonic epilepsy 1A.; Progressive myoclonic epilepsy Unverricht-Lundborg type.; ULD.; ",
"cross_references": "MeSH; D020191.",
"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. EPM1 is an autosomal recessive form characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Band heterotopia.",
"acronym": "BH.",
"accession": "DI-04829",
"synonyms": "Band heterotopia of brain.; ",
"cross_references": "MeSH; D054221.",
"definition": "A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Pseudo-TORCH syndrome 1.",
"acronym": "PTORCH1.",
"accession": "DI-02925",
"synonyms": "Band-like calcification with simplified gyration and polymicrogyria.; Baraitser Brett Piesowicz syndrome.; BLCPMG.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, Lisch epithelial.",
"acronym": "LECD.",
"accession": "DI-06868",
"synonyms": "Band-shaped and whorled microcystic corneal epithelial dystrophy.; Lisch epithelial corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "An autosomal dominant corneal dystrophy characterized by gray, band- shaped and feathery opacities in the cornea, that sometimes appear in whorled patterns. The opaque bands consist of clear, densely crowded, intra-epithelial blisters. Vision may be impaired if the bands involve the central cornea. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Cowden syndrome 1.",
"acronym": "CWS1.",
"accession": "DI-01440",
"synonyms": "Bannayan-Riley-Ruvalcaba syndrome.; Bannayan-Ruvalcaba-Riley syndrome.; Bannayan-Zonana syndrome.; BZS.; CD.; Cowden disease.; CS.; Macrocephaly multiple lipomas and hemangiomata.; Macrocephaly pseudopapilledema and multiple hemangiomata.; MHAM.; Multiple hamartoma syndrome.; PHTS.; PTEN hamartoma tumor syndrome.; Riley-Smith syndrome.; RMSS.; Ruvalcaba-Myhre-Smith syndrome.; ",
"cross_references": "MeSH; D006223.",
"definition": "An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Orofaciodigital syndrome 4.",
"acronym": "OFD4.",
"accession": "DI-03516",
"synonyms": "Baraitser-Burn syndrome.; Mohr-Majewski syndrome.; OFDS IV.; OFD syndrome Baraitser-Burn type.; OFD syndrome with tibial defects.; Oral-facial-digital syndrome, type IV.; Oral-facial-digital syndrome 4.; Orofaciodigital syndrome IV.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 83.",
"acronym": "DEE83.",
"accession": "DI-05738",
"synonyms": "Barakat-Perenthaler syndrome.; EIEE83.; Epileptic encephalopathy, early infantile, 83.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hypoparathyroidism, sensorineural deafness, and renal disease.",
"acronym": "HDR.",
"accession": "DI-01792",
"synonyms": "Barakat syndrome.; Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.; Nephrosis, nerve deafness, and hypoparathyroidism.; ",
"cross_references": "MeSH; D009401.",
"definition": "A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 29.",
"acronym": "SCAR29.",
"accession": "DI-06157",
"synonyms": "Barakat-Van Ham-Kaya syndrome.; BAVAHAKA.; NEDHCA.; Neurodevelopmental disorder with hypotonia and cerebellar ataxia.; ",
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR29 is a progressive disease characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Desbuquois dysplasia 2.",
"acronym": "DBQD2.",
"accession": "DI-04114",
"synonyms": "Baratela-Scott syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "MHC class I deficiency 1.",
"acronym": "MHC1D1.",
"accession": "DI-00170",
"synonyms": "Bare lymphocyte syndrome 1.; BLS1.; BLS I.; BLS type I.; HLA class I deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by chronic bacterial infections of the respiratory tract, beginning in the first or second decade of life and usually progressing to bronchiectasis. Patients have nasal polyps and may develop chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and skin. ",
"keywords": null
},
{
"identifier": "MHC class II deficiency 1.",
"acronym": "MHC2D1.",
"accession": "DI-00171",
"synonyms": "Bare lymphocyte syndrome 2.; Bare lymphocyte syndrome type II.; Bare lymphocyte syndrome type II complementation group A.; Bare lymphocyte syndrome type II complementation group B.; Bare lymphocyte syndrome type II complementation group C.; Bare lymphocyte syndrome type II complementation group D.; Bare lymphocyte syndrome type II complementation group E.; BLS2.; BLS II.; BLS type II.; Hereditary MHC class II deficiency.; HLA class II deficient combined immunodeficiency.; Major histocompatibility complex class II deficiency.; MHC-II deficiency.; SCID HLA class II-negative.; Severe combined immunodeficiency HLA class II-negative.; ",
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive immunologic disorder characterized by the loss of expression of MHC class II antigens on antigen-presenting cells. Affected individuals present in early infancy with severe recurrent bacterial, viral, fungal and parasitic infections, usually affecting the gastrointestinal and respiratory tracts. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "MHC class II deficiency 2.",
"acronym": "MHC2D2.",
"accession": "DI-06905",
"synonyms": "Bare lymphocyte syndrome, type II, complementation group B.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "MHC class II deficiency 3.",
"acronym": "MHC2D3.",
"accession": "DI-06906",
"synonyms": "Bare lymphocyte syndrome, type II, complementation group C.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Most patients die in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "MHC class II deficiency 4.",
"acronym": "MHC2D4.",
"accession": "DI-06908",
"synonyms": "Bare lymphocyte syndrome, type II, complementation group D.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immunodeficiency, failure to thrive, and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "MHC class II deficiency 5.",
"acronym": "MHC2D5.",
"accession": "DI-06907",
"synonyms": "Bare lymphocyte syndrome, type II, complementation group E.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by a defect in constitutive and inducible surface expression of MHC class II molecules on B cells, monocytes, and activated T cells. Affected individuals may present in infancy with infections and hypogammaglobulinemia, but the disease course is mostly benign and patients do not develop severe infections. Some individuals may be asymptomatic. ",
"keywords": null
},
{
"identifier": "Barrett esophagus.",
"acronym": "BE.",
"accession": "DI-03276",
"synonyms": "Barrett metaplasia.; ",
"cross_references": "MeSH; D001471.",
"definition": "A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. ",
"keywords": null
},
{
"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.; "
}
]
}