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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1600&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1560&ordering=identifier",
"results": [
{
"identifier": "D-2-hydroxyglutaric aciduria 2.",
"acronym": "D2HGA2.",
"accession": "DI-02980",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. ",
"keywords": null
},
{
"identifier": "Danon disease.",
"acronym": "DAND.",
"accession": "DI-00385",
"synonyms": "Glycogen storage disease IIb.; GSD2B.; GSD-IIb.; Lysosomal glycogen storage disease without acid maltase deficiency.; Pseudoglycogenosis II.; Vacuolar cardiomyopathy and myopathy X-linked.; ",
"cross_references": "MeSH; D052120.",
"definition": "DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Darier disease.",
"acronym": "DD.",
"accession": "DI-01473",
"synonyms": "DAR.; Darier disease acral hemorrhagic type.; Darier disease segmental.; Darier-White disease.; Keratosis follicularis.; ",
"cross_references": "MeSH; D007644.",
"definition": "A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild intellectual disability, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi. ",
"keywords": null
},
{
"identifier": "D-bifunctional protein deficiency.",
"acronym": "DBPD.",
"accession": "DI-01471",
"synonyms": null,
"cross_references": "MedGen; C0342870.",
"definition": "Disorder of peroxisomal fatty acid beta-oxidation. ",
"keywords": null
},
{
"identifier": "Deafness, aminoglycoside-induced.",
"acronym": "DFNI.",
"accession": "DI-05233",
"synonyms": "Deafness, streptomycin-induced.; Streptomycin ototoxicity.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness and myopia.",
"acronym": "DFNMYP.",
"accession": "DI-03969",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 10.",
"acronym": "DFNA10.",
"accession": "DI-00840",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 10.; Non-syndromic sensorineural deafness autosomal dominant type 10.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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 dominant, 11.",
"acronym": "DFNA11.",
"accession": "DI-00841",
"synonyms": "Non-syndromic sensorineural deafness autosomal dominant type 11.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 12.",
"acronym": "DFNA12.",
"accession": "DI-00842",
"synonyms": "Deafness autosomal dominant 8.; DFNA8.; Non-syndromic sensorineural deafness autosomal dominant type 12.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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 dominant, 13.",
"acronym": "DFNA13.",
"accession": "DI-00843",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 13.; Non-syndromic sensorineural deafness autosomal dominant type 13.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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 dominant, 15.",
"acronym": "DFNA15.",
"accession": "DI-00844",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 17.",
"acronym": "DFNA17.",
"accession": "DI-00845",
"synonyms": "cochleosaccular degeneration.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant 1, with or without thrombocytopenia.",
"acronym": "DFNA1.",
"accession": "DI-00831",
"synonyms": "Hereditary low-frequency hearing loss.; Hereditary low-frequency sensorineural hearing loss.; Konigsmark syndrome.; LFHL1.; LFSNHL1.; Non-syndromic neurosensory deafness autosomal dominant type 1.; Non-syndromic sensorineural deafness autosomal dominant type 1.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 20.",
"acronym": "DFNA20.",
"accession": "DI-00846",
"synonyms": "Deafness autosomal dominant 26.; DFNA26.; Non-syndromic neurosensory deafness autosomal dominant type 20.; Non-syndromic sensorineural deafness autosomal dominant type 20.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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 dominant, 21.",
"acronym": "DFNA21.",
"accession": "DI-06409",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 22.",
"acronym": "DFNA22.",
"accession": "DI-00847",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 22.; Non-syndromic sensorineural deafness autosomal dominant type 22.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.",
"acronym": "DFNHCM.",
"accession": "DI-01013",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0209:Deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 23.",
"acronym": "DFNA23.",
"accession": "DI-01205",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 25.",
"acronym": "DFNA25.",
"accession": "DI-00848",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 25.; Non-syndromic sensorineural deafness autosomal dominant type 25.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 27.",
"acronym": "DFNA27.",
"accession": "DI-05689",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}