{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=960&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=920&ordering=-identifier","results":[{"identifier":"Sarcoidosis 1.","acronym":"SS1.","accession":"DI-02731","synonyms":"Besnier-Boeck-Schaumann disease.; Boeck sarcoid.; Sarcoidosis.; ","cross_references":"MeSH; D012507.","definition":"An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. ","keywords":null},{"identifier":"Sandestig-Stefanova syndrome.","acronym":"SANDSTEF.","accession":"DI-05785","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization. ","keywords":"KW-0898:Cataract.; KW-1013:Microphthalmia.; "},{"identifier":"Salt and pepper developmental regression syndrome.","acronym":"SPDRS.","accession":"DI-00096","synonyms":"AIES.; Amish infantile epilepsy syndrome.; Epilepsy syndrome infantile-onset symptomatic.; GM3 synthase deficiency.; ","cross_references":"MeSH; D004827.","definition":"A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Salla disease.","acronym":"SD.","accession":"DI-02278","synonyms":"Finnish type sialuria.; ","cross_references":"MedGen; C1096903.","definition":"Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. ","keywords":null},{"identifier":"Saethre-Chotzen syndrome.","acronym":"SCS.","accession":"DI-01006","synonyms":"Acrocephalosyndactyly type 3.; ACS3.; ACS III.; ","cross_references":"MeSH; D000168.","definition":"A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Sacral defect with anterior meningocele.","acronym":"SDAM.","accession":"DI-02277","synonyms":null,"cross_references":"MedGen; C1838569.","definition":"Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Sacral agenesis with vertebral anomalies.","acronym":"SAVA.","accession":"DI-04072","synonyms":null,"cross_references":"MeSH; D013122.","definition":"A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. ","keywords":null},{"identifier":"Ruijs-Aalfs syndrome.","acronym":"RJALS.","accession":"DI-04313","synonyms":null,"cross_references":"MeSH; D049914.","definition":"A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma. ","keywords":null},{"identifier":"Rubinstein-Taybi syndrome 2.","acronym":"RSTS2.","accession":"DI-02976","synonyms":null,"cross_references":"MeSH; D012415.","definition":"A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. ","keywords":null},{"identifier":"Rubinstein-Taybi syndrome 1.","acronym":"RSTS1.","accession":"DI-02730","synonyms":"Broad thumb-hallux syndrome.; RSTS.; Rubinstein syndrome.; ","cross_references":"MeSH; D012415.","definition":"A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. ","keywords":null},{"identifier":"Roussy-Levy syndrome.","acronym":"ROULS.","accession":"DI-02275","synonyms":"Roussy-Levy hereditary areflexic dystasia.; ","cross_references":"MedGen; C0205713.","definition":"Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. ","keywords":null},{"identifier":"Rothmund-Thomson syndrome 4.","acronym":"RTS4.","accession":"DI-06901","synonyms":"Rothmund-Thomson syndrome, type 4.; ","cross_references":"MeSH; D019066.","definition":"A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. Inheritance is autosomal recessive. RTS4 patients also exhibit microcephaly and photosensitivity with bullae. Growth failure is severe, with some individuals showing signs of growth hormone or combined pituitary hormone deficiency. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Rothmund-Thomson syndrome 3.","acronym":"RTS3.","accession":"DI-04112","synonyms":"Short stature with microcephaly and distinctive facies.; SSMCF.; ","cross_references":"MeSH; D019066.","definition":"A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Rothmund-Thomson syndrome 2.","acronym":"RTS2.","accession":"DI-02274","synonyms":null,"cross_references":"MeSH; D011038.","definition":"A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Rothmund-Thomson syndrome 1.","acronym":"RTS1.","accession":"DI-05679","synonyms":"Poikiloderma atrophicans and cataract.; Rothmund-Thomson syndrome, type 1.; ","cross_references":"MeSH; D011038.","definition":"A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS1 is an autosomal recessive form not associated with an increased risk of cancer. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked.","acronym":"RESDX.","accession":"DI-02456","synonyms":null,"cross_references":"MeSH; D019305.","definition":"A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Rokitansky-Kuster-Hauser syndrome.","acronym":"RKH syndrome.","accession":"DI-02273","synonyms":"Mayer-Rokitansky-Kuster-Hauser syndrome.; MRKH anomaly.; MRKH syndrome.; ","cross_references":"MedGen; C1698581.","definition":"Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls. ","keywords":null},{"identifier":"Roifman-Chitayat syndrome.","acronym":"ROCHIS.","accession":"DI-06090","synonyms":"Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay.; ","cross_references":"MeSH; D009422.","definition":"An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. ","keywords":null},{"identifier":"Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction.","acronym":"RCDFRD.","accession":"DI-06374","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive disease characterized by visual impairment due to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type renal dysfunction resulting in rickets-like skeletal changes. Death may occur in childhood or young adulthood due to renal failure. Disease onset is before age 5 years. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Rod-cone dystrophy Newfoundland.","acronym":"NFRCD.","accession":"DI-01005","synonyms":null,"cross_references":"MeSH; D012174.","definition":"A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. ","keywords":null}]}