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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=180&ordering=-identifier",
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"results": [
{
"identifier": "UV-sensitive syndrome 1.",
"acronym": "UVSS1.",
"accession": "DI-02407",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ",
"keywords": null
},
{
"identifier": "Usmani-Riazuddin syndrome, autosomal recessive.",
"acronym": "USRISR.",
"accession": "DI-06260",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Usmani-Riazuddin syndrome, autosomal dominant.",
"acronym": "USRISD.",
"accession": "DI-06259",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Usher syndrome 4.",
"acronym": "USH4.",
"accession": "DI-05348",
"synonyms": "Usher syndrome, type IV.; ",
"cross_references": "MeSH; D052245.",
"definition": "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 3B.",
"acronym": "USH3B.",
"accession": "DI-03383",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 3A.",
"acronym": "USH3A.",
"accession": "DI-01120",
"synonyms": "USH3.; Usher's syndrome type 3.; Usher syndrome III.; Usher syndrome type 3.; Usher syndrome type III.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 2D.",
"acronym": "USH2D.",
"accession": "DI-02406",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 2C.",
"acronym": "USH2C.",
"accession": "DI-01119",
"synonyms": "Usher's syndrome type 2C.; Usher syndrome type IIC.; Usher syndrome type IIC GPR98/PDZD7 digenic.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 2A.",
"acronym": "USH2A.",
"accession": "DI-01118",
"synonyms": "Usher's syndrome type 2A.; Usher syndrome type IIa.; Usher syndrome type IIA.; USHIIa.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1M.",
"acronym": "USH1M.",
"accession": "DI-05680",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1J.",
"acronym": "USH1J.",
"accession": "DI-03552",
"synonyms": "Usher's syndrome type 1J.; Usher syndrome type IJ.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1G.",
"acronym": "USH1G.",
"accession": "DI-01117",
"synonyms": "Usher's syndrome type 1G.; Usher syndrome type IG.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1F.",
"acronym": "USH1F.",
"accession": "DI-01116",
"synonyms": "Usher's syndrome type 1F.; Usher syndrome type IF.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1D/F.",
"acronym": "USH1DF.",
"accession": "DI-01115",
"synonyms": "USH1D/F.; Usher's syndrome type 1H.; Usher syndrome 1H.; Usher syndrome type IH.; ",
"cross_references": "MeSH; D052245.",
"definition": "A digenic recessive form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1D.",
"acronym": "USH1D.",
"accession": "DI-01114",
"synonyms": "Usher's syndrome type 1D.; Usher syndrome type ID.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1C.",
"acronym": "USH1C.",
"accession": "DI-01113",
"synonyms": "Acadian Usher syndrome.; Usher's syndrome type 1C.; Usher syndrome type I Acadian variety.; Usher syndrome type IC.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1B.",
"acronym": "USH1B.",
"accession": "DI-01112",
"synonyms": "Usher's syndrome type 1B.; Usher syndrome type Ib.; Usher syndrome type IB.; USHIb.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Uruguay faciocardiomusculoskeletal syndrome.",
"acronym": "FCMSU.",
"accession": "DI-05127",
"synonyms": "Faciocardiomusculoskeletal syndrome, Uruguay type.; FCMS.; ",
"cross_references": "MeSH; D009202.",
"definition": "An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. ",
"keywords": null
},
{
"identifier": "Urofacial syndrome 2.",
"acronym": "UFS2.",
"accession": "DI-03706",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. ",
"keywords": null
},
{
"identifier": "Urofacial syndrome 1.",
"acronym": "UFS1.",
"accession": "DI-02762",
"synonyms": "Hydronephrosis with peculiar facial expression.; Inverted smile and occult neuropathic bladder.; Ochoa syndrome.; Partial facial palsy partial with urinary abnormalities.; UFS.; Urofacial syndrome.; ",
"cross_references": "MeSH; D019066.",
"definition": "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. ",
"keywords": null
}
]
}