{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5860&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5820&ordering=synonyms","results":[{"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":"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":"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},{"identifier":"Robinow syndrome, autosomal recessive 2.","acronym":"RRS2.","accession":"DI-05633","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spermatogenic failure 39.","acronym":"SPGF39.","accession":"DI-05668","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic anomalies including short, absent, irregularly shaped and coiled flagella, and abnormalities of the head and midpiece. ","keywords":null},{"identifier":"Robinow syndrome, autosomal dominant 3.","acronym":"DRS3.","accession":"DI-04701","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Robinow syndrome, autosomal dominant 2.","acronym":"DRS2.","accession":"DI-04392","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Seizures, cortical blindness, and microcephaly syndrome.","acronym":"SCBMS.","accession":"DI-04572","synonyms":null,"cross_references":"MeSH; D019575.","definition":"A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Seizures, early-onset, with neurodegeneration and brain calcification.","acronym":"SENEBAC.","accession":"DI-05833","synonyms":null,"cross_references":"MeSH; D019636.","definition":"An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Ritscher-Schinzel syndrome 4.","acronym":"RTSC4.","accession":"DI-06167","synonyms":null,"cross_references":"MeSH; D019465.","definition":"An autosomal dominant form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain anomalies associated with global developmental delay and impaired intellectual development, congenital heart defects, and craniofacial abnormalities. ","keywords":null},{"identifier":"Ritscher-Schinzel syndrome 3.","acronym":"RTSC3.","accession":"DI-05996","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria. ","keywords":null},{"identifier":"Ritscher-Schinzel syndrome 2.","acronym":"RTSC2.","accession":"DI-04573","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC2 is an X-linked recessive form characterized by intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ring dermoid of cornea.","acronym":"RDC.","accession":"DI-02729","synonyms":null,"cross_references":"MeSH; D003884.","definition":"An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. ","keywords":null},{"identifier":"Senior-Loken syndrome 4.","acronym":"SLSN4.","accession":"DI-01010","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "},{"identifier":"Senior-Loken syndrome 5.","acronym":"SLSN5.","accession":"DI-01011","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "},{"identifier":"Senior-Loken syndrome 6.","acronym":"SLSN6.","accession":"DI-01012","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "},{"identifier":"Senior-Loken syndrome 7.","acronym":"SLSN7.","accession":"DI-02941","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "},{"identifier":"Senior-Loken syndrome 8.","acronym":"SLSN8.","accession":"DI-04390","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "},{"identifier":"Senior-Loken syndrome 9.","acronym":"SLSN9.","accession":"DI-04575","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ","keywords":"KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "}]}