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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=180",
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"results": [
{
"identifier": "Albinism, oculocutaneous, 6.",
"acronym": "OCA6.",
"accession": "DI-03840",
"synonyms": "Oculocutaneous albinism type VI.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 7.",
"acronym": "OCA7.",
"accession": "DI-03749",
"synonyms": "Oculocutaneous albinism type VII.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 8.",
"acronym": "OCA8.",
"accession": "DI-06011",
"synonyms": "Oculocutaneous albinism, type VIII.; ",
"cross_references": "MeSH; D016115.",
"definition": "A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albright hereditary osteodystrophy.",
"acronym": "AHO.",
"accession": "DI-00073",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
},
{
"identifier": "Alexander disease.",
"acronym": "ALXDRD.",
"accession": "DI-00074",
"synonyms": "Alexander's disease.; ",
"cross_references": "MeSH; D038261.",
"definition": "A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Alfadhel syndrome.",
"acronym": "AFDL.",
"accession": "DI-06815",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Al-Gazali-Bakalinova syndrome.",
"acronym": "AGBK.",
"accession": "DI-04658",
"synonyms": "Macrocephaly with multiple epiphyseal dysplasia and distinctive facies.; MMEDF.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. ",
"keywords": null
},
{
"identifier": "Al-Gazali syndrome.",
"acronym": "ALGAZ.",
"accession": "DI-05819",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Al Kaissi syndrome.",
"acronym": "ALKAS.",
"accession": "DI-05093",
"synonyms": "Growth retardation, spine malformation, dysmorphic facies, and developmental delay.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay. ",
"keywords": null
},
{
"identifier": "Alkaptonuria.",
"acronym": "AKU.",
"accession": "DI-00077",
"synonyms": "Homogentisic acid oxidase deficiency.; ",
"cross_references": "MeSH; D000474.",
"definition": "An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. ",
"keywords": null
},
{
"identifier": "Alkuraya-Kucinskas syndrome.",
"acronym": "ALKKUCS.",
"accession": "DI-05169",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ",
"keywords": null
},
{
"identifier": "Allergic rhinitis.",
"acronym": "ALRH.",
"accession": "DI-02868",
"synonyms": null,
"cross_references": "MeSH; D012221.",
"definition": "A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. ",
"keywords": null
},
{
"identifier": "Alopecia-intellectual disability syndrome 1.",
"acronym": "APMR1.",
"accession": "DI-05180",
"synonyms": "Alopecia with severe intellectual deficit.; AMR syndrome.; AMR syndrome 1.; ",
"cross_references": "MeSH; D008607.",
"definition": "A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alopecia-intellectual disability syndrome 4.",
"acronym": "APMR4.",
"accession": "DI-05812",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alopecia, neurologic defects, and endocrinopathy syndrome.",
"acronym": "ANES.",
"accession": "DI-01178",
"synonyms": "Alopecia-progressive neurological defect-endocrinopathy.; ANE syndrome.; ",
"cross_references": "MeSH; D009422.",
"definition": "Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe intellectual disability, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alopecia universalis congenita.",
"acronym": "ALUNC.",
"accession": "DI-00078",
"synonyms": "Alopecia universalis.; Atrichia generalized.; ",
"cross_references": "MeSH; D000505.",
"definition": "A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alpha-1-antitrypsin deficiency.",
"acronym": "A1ATD.",
"accession": "DI-02928",
"synonyms": null,
"cross_references": "MeSH; D019896.",
"definition": "A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ",
"keywords": null
},
{
"identifier": "Alpha-2-plasmin inhibitor deficiency.",
"acronym": "APLID.",
"accession": "DI-00075",
"synonyms": "Antiplasmin deficiency.; Plasmin inhibitor deficiency.; ",
"cross_references": "MeSH; D006474.",
"definition": "An autosomal recessive disorder resulting in severe hemorrhagic diathesis. ",
"keywords": null
},
{
"identifier": "Alpha-aminoadipic and alpha-ketoadipic aciduria.",
"acronym": "AAKAD.",
"accession": "DI-03673",
"synonyms": "2-aminoadipic 2-oxoadipic aciduria.; 2-ketoadipic aciduria.; AMOXAD.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. ",
"keywords": null
},
{
"identifier": "Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.",
"acronym": "T-CMVA.",
"accession": "DI-01182",
"synonyms": null,
"cross_references": "MeSH; D015551.",
"definition": "An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. ",
"keywords": null
}
]
}