{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2940&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2900&ordering=synonyms","results":[{"identifier":"Nephrolithiasis, X-linked recessive, with renal failure.","acronym":"XRN.","accession":"DI-00801","synonyms":"Nephrolithiasis 1.; NPHL1.; ","cross_references":"MeSH; D053040.","definition":"An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. ","keywords":null},{"identifier":"Dent disease 1.","acronym":"DENT1.","accession":"DI-00802","synonyms":"Nephrolithiasis 2.; Nephrolithiasis-hypercalciuria X-linked recessive.; NPHL2.; Urolithiasis, hypercalciuric, X-linked.; ","cross_references":"MeSH; D053040.","definition":"An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. DENT1 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. ","keywords":null},{"identifier":"CFHR5 deficiency.","acronym":"CFHR5D.","accession":"DI-03555","synonyms":"Nephropathy due to CFHR5 deficiency.; ","cross_references":"MeSH; D005921.","definition":"A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. ","keywords":null},{"identifier":"Epidermolysis bullosa simplex 7, with nephropathy and deafness.","acronym":"EBS7.","accession":"DI-00808","synonyms":"Nephropathy with pretibial epidermolysis bullosa and deafness.; NPEBD.; ","cross_references":"MeSH; D016108.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS7 is an autosomal recessive disorder characterized by the association of skin blistering, hereditary nephritis, sensorineural deafness, and beta- thalassemia minor. Skin blistering is present at birth, particularly in the tibial area but also scattered on other parts of the body. ","keywords":"KW-0209:Deafness.; KW-0263:Epidermolysis bullosa.; "},{"identifier":"RENI syndrome.","acronym":"RENI.","accession":"DI-05043","synonyms":"Nephrotic syndrome, type 14.; NPHS14.; Sphingosine phosphate lyase insufficiency syndrome.; SPLIS.; ","cross_references":"MeSH; D009404.","definition":"An autosomal recessive, steroid-resistant nephrotic syndrome that manifests in infancy or early childhood, and progresses to end-stage renal failure within a few years. Additional clinical features include ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. In rare cases, patients present with isolated primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. ","keywords":null},{"identifier":"Nephrotic syndrome 15.","acronym":"NPHS15.","accession":"DI-05067","synonyms":"Nephrotic syndrome, type 15.; ","cross_references":"MeSH; D009404.","definition":"A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure. ","keywords":null},{"identifier":"Nephrotic syndrome 16.","acronym":"NPHS16.","accession":"DI-05129","synonyms":"Nephrotic syndrome, type 16.; ","cross_references":"MeSH; D009404.","definition":"A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS16 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Nephrotic syndrome 7.","acronym":"NPHS7.","accession":"DI-03666","synonyms":"Nephrotic syndrome type 7 with membranoproliferative glomerulonephritis.; ","cross_references":"MeSH; D009404.","definition":"A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. ","keywords":null},{"identifier":"Sodium-dependent multivitamin transporter deficiency.","acronym":"SMVTD.","accession":"DI-05892","synonyms":"NERIB.; Neurodegeneration, infantile-onset, biotin-responsive.; SMVT deficiency.; ","cross_references":"MeSH; D020271.","definition":"An autosomal recessive multisystemic metabolic disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Albinism ocular 1.","acronym":"OA1.","accession":"DI-02082","synonyms":"Nettleship-Falls type ocular albinism.; OA-1.; ","cross_references":"MeSH; D016117.","definition":"Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. ","keywords":"KW-0015:Albinism.; "},{"identifier":"Turnpenny-Fry syndrome.","acronym":"TPFS.","accession":"DI-05516","synonyms":"Neurocardioskeletal syndrome.; ","cross_references":"MeSH; D000015.","definition":"A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Baralle-Macken syndrome.","acronym":"BARMACS.","accession":"DI-06071","synonyms":"Neurodevelopmental disorder with cataracts and variable microcephaly.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia. ","keywords":"KW-0898:Cataract.; KW-0991:Intellectual disability.; "},{"identifier":"Neurofacioskeletal syndrome with or without renal agenesis.","acronym":"NFSRA.","accession":"DI-06053","synonyms":"Neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Alzahrani-Kuwahara syndrome.","acronym":"ALKUS.","accession":"DI-06078","synonyms":"Neurodevelopmental disorder with dysmorphic facies and cataracts.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations. ","keywords":"KW-0898:Cataract.; KW-0991:Intellectual disability.; "},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 25.","acronym":"GPIBD25.","accession":"DI-06475","synonyms":"Neurodevelopmental disorder with hypotonia and contractures.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder with onset in early infancy and characterized by global developmental delay with almost no milestone achievement, brain anomalies, hypotonia, and contractures. Death may occur in early childhood. ","keywords":null},{"identifier":"Squalene synthase deficiency.","acronym":"SQSD.","accession":"DI-05357","synonyms":"Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids.; ","cross_references":"MeSH; D008661.","definition":"An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. ","keywords":null},{"identifier":"Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures.","acronym":"NEDBAS.","accession":"DI-05719","synonyms":"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements.","acronym":"NEDNEH.","accession":"DI-05607","synonyms":"Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with variable motor and language impairment.","acronym":"NEDMIAL.","accession":"DI-05162","synonyms":"Neurodevelopmental disorder with severe motor impairment and absent language.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hengel-Maroofian-Schols syndrome.","acronym":"HEMARS.","accession":"DI-06285","synonyms":"Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy. ","keywords":"KW-0991:Intellectual disability.; "}]}