Human Disease List
GET /api/human_diseases/?format=api&offset=4980&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5000&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4960&ordering=-identifier", "results": [ { "identifier": "Deafness, X-linked, 6.", "acronym": "DFNX6.", "accession": "DI-04012", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, X-linked, 5, with peripheral neuropathy.", "acronym": "DFNX5.", "accession": "DI-04610", "synonyms": "Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy.; AUNX1.; ", "cross_references": "MeSH; D006319.", "definition": "A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. ", "keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; " }, { "identifier": "Deafness, X-linked, 4.", "acronym": "DFNX4.", "accession": "DI-03162", "synonyms": "Deafness nonsyndromic sensorineural progressive 6.; Deafness X-linked 6 progressive.; DFN6.; ", "cross_references": "MeSH; D006319.", "definition": "A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, X-linked, 2.", "acronym": "DFNX2.", "accession": "DI-02441", "synonyms": "Deafness 3 conductive with stapes fixation.; Deafness conductive with stapes fixation.; Deafness mixed with perilymphatic gusher.; Deafness mixed with perilymph Gusher X-linked.; DFN3.; Nance deafness.; Perilymphatic gusher-deafness syndrome.; X-linked mixed conductive and neurosensory deafness.; X-linked mixed conductive and sensorineural deafness.; ", "cross_references": "MeSH; D046089.", "definition": "A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, X-linked, 1.", "acronym": "DFNX1.", "accession": "DI-02690", "synonyms": "Congenital sensorineural deafness X-linked 2.; DFN2.; ", "cross_references": "MeSH; D006319.", "definition": "A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness with labyrinthine aplasia, microtia and microdontia.", "acronym": "LAMM.", "accession": "DI-01475", "synonyms": "Congenital deafness with inner ear agenesis, microtia and microdontia.; ", "cross_references": "MedGen; C1853144.", "definition": "Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). ", "keywords": null }, { "identifier": "Deafness, sensorineural, mitochondrial.", "acronym": "DFNM.", "accession": "DI-02887", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.", "acronym": "DOORS.", "accession": "DI-03992", "synonyms": "Brachydactyly due to absence of distal phalanges.; Digitorenocerebral syndrome.; DOOR syndrome.; DRC syndrome.; Eronen syndrome.; ", "cross_references": "MeSH; D019465.", "definition": "A syndrome characterized by sensorineural deafness, intellectual disability, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. ", "keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Deafness-infertility syndrome.", "acronym": "DIS.", "accession": "DI-01474", "synonyms": "Chromosome 15q15.3 deletion syndrome.; Deafness, sensorineural, and male infertility.; ", "cross_references": "MedGen; C1970187.", "definition": "Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. ", "keywords": null }, { "identifier": "Deafness, dystonia, and cerebral hypomyelination.", "acronym": "DDCH.", "accession": "DI-03930", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ", "keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; " }, { "identifier": "Deafness, congenital, with onychodystrophy, autosomal dominant.", "acronym": "DDOD.", "accession": "DI-04735", "synonyms": "DDOD syndrome.; ", "cross_references": "MeSH; D014071.", "definition": "An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Deafness, congenital, unilateral or asymmetric.", "acronym": "DCUA.", "accession": "DI-04598", "synonyms": null, "cross_references": "MeSH; D046088.", "definition": "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, congenital heart defects, and posterior embryotoxon.", "acronym": "DCHE.", "accession": "DI-05252", "synonyms": null, "cross_references": "MeSH; D000013.", "definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Deafness, congenital, and adult-onset progressive leukoencephalopathy.", "acronym": "DEAPLE.", "accession": "DI-06032", "synonyms": null, "cross_references": "MeSH; D056784.", "definition": "An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients. ", "keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; " }, { "identifier": "Deafness, cataract, impaired intellectual development, and polyneuropathy.", "acronym": "DCIDP.", "accession": "DI-06133", "synonyms": null, "cross_references": "MeSH; D009422.", "definition": "An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. ", "keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; " }, { "identifier": "Deafness, autosomal recessive, 99.", "acronym": "DFNB99.", "accession": "DI-05585", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal recessive, 98.", "acronym": "DFNB98.", "accession": "DI-03535", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal recessive, 97.", "acronym": "DFNB97.", "accession": "DI-04599", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal recessive, 94.", "acronym": "DFNB94.", "accession": "DI-05552", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal recessive, 93.", "acronym": "DFNB93.", "accession": "DI-03553", "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 93.; ", "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram. ", "keywords": "KW-1010:Non-syndromic deafness.; " } ] }