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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=260&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=220&ordering=synonyms",
"results": [
{
"identifier": "Amelogenesis imperfecta 1G.",
"acronym": "AI1G.",
"accession": "DI-04208",
"synonyms": "AIGFS.; Amelogenesis imperfecta and gingival fibromatosis syndrome.; Enamel-renal-gingival syndrome.; Enamel-renal syndrome.; ERS.; Hypoplastic amelogenesis imperfecta with nephrocalcinosis.; ",
"cross_references": "MeSH; D005351.",
"definition": "A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1E.",
"acronym": "AI1E.",
"accession": "DI-00088",
"synonyms": "AIH1.; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth.; Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E.; Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1.; Amelogenesis imperfecta type IE.; Enamel hypoplasia, X-linked 1.; Enamel hypoplasia X-linked.; XAI.; X-linked amelogenesis imperfecta.; ",
"cross_references": "MeSH; D000567.",
"definition": "An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1B.",
"acronym": "AI1B.",
"accession": "DI-00089",
"synonyms": "AIH2.; Amelogenesis imperfecta hypoplastic 2.; Amelogenesis imperfecta hypoplastic local autosomal dominant.; Amelogenesis imperfecta type IB.; Hereditary localized enamel hypoplasia.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 4.",
"acronym": "AI4.",
"accession": "DI-00094",
"synonyms": "AIHHT.; AIT.; Amelogenesis imperfecta 2 hypocalcification type.; Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta type IV.; Amelogenesis imperfecta with taurodontism.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Non-arteritic anterior ischemic optic neuropathy.",
"acronym": "NAION.",
"accession": "DI-02713",
"synonyms": "AION.; Anterior ischemic optic neuropathy.; ",
"cross_references": "MeSH; D018917.",
"definition": "An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. ",
"keywords": null
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A1.",
"acronym": "AI2A1.",
"accession": "DI-00091",
"synonyms": "AIPH.; Amelogenesis imperfecta 2 hypocalcification type.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta pigmented hypomaturation type 1.; ",
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Acute hepatic porphyria.",
"acronym": "AHEPP.",
"accession": "DI-00036",
"synonyms": "ALAD deficiency.; Delta-aminolevulinate dehydratase deficiency.; Doss porphyria.; Porphobilinogen synthase deficiency.; Porphyria ALAD.; ",
"cross_references": "MeSH; D017094.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. ",
"keywords": null
},
{
"identifier": "Alagille syndrome 1.",
"acronym": "ALGS1.",
"accession": "DI-00071",
"synonyms": "Alagille syndrome.; Alagille-Watson syndrome.; ALGS.; AWS.; Cholestasis with peripheral pulmonary stenosis.; ",
"cross_references": "MeSH; D016738.",
"definition": "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. ",
"keywords": null
},
{
"identifier": "Alagille syndrome 2.",
"acronym": "ALGS2.",
"accession": "DI-00072",
"synonyms": "Alagille-Watson syndrome.; ALGS.; AWS.; Cholestasis with peripheral pulmonary stenosis.; ",
"cross_references": "MeSH; D016738.",
"definition": "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. ",
"keywords": null
},
{
"identifier": "Aaland island eye disease.",
"acronym": "AIED.",
"accession": "DI-01163",
"synonyms": "Aland island eye disease.; Forsius-Eriksson type ocular albinism.; ",
"cross_references": "MeSH; D014786.",
"definition": "A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. ",
"keywords": null
},
{
"identifier": "Hyperoxaluria primary 1.",
"acronym": "HP1.",
"accession": "DI-01778",
"synonyms": "Alanine-glyoxylate aminotransferase deficiency.; Glycolic aciduria.; Hepatic AGT deficiency.; Hyperoxaluria primary type I.; Oxalosis I.; Peroxisomal alanine glyoxylate aminotransferase deficiency.; PH1.; Primary hyperoxaluria type I.; Serine pyruvate aminotransferase deficiency.; ",
"cross_references": "MeSH; D006960.",
"definition": "An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Multicentric osteolysis, nodulosis, and arthropathy.",
"acronym": "MONA.",
"accession": "DI-02374",
"synonyms": "Al-Aqeel Sewairi syndrome.; Hereditary multicentric osteolysis.; NAO syndrome.; Nodulosis-arthropathy-osteolysis syndrome.; Torg syndrome.; Torg-Winchester syndrome.; ",
"cross_references": "MeSH; D010014.",
"definition": "An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. ",
"keywords": null
},
{
"identifier": "ABCD syndrome.",
"acronym": "ABCDS.",
"accession": "DI-00013",
"synonyms": "Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness.; ",
"cross_references": "MeSH; D014849.",
"definition": "An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. ",
"keywords": "KW-0015:Albinism.; KW-0209:Deafness.; KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Tietz albinism-deafness syndrome.",
"acronym": "TADS.",
"accession": "DI-02369",
"synonyms": "Albinism-deafness of Tietz.; Hypopigmentation/deafness of Tietz.; Tietz syndrome.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness. ",
"keywords": "KW-0015:Albinism.; KW-0209:Deafness.; "
},
{
"identifier": "Albinism, oculocutaneous, 1A.",
"acronym": "OCA1A.",
"accession": "DI-02088",
"synonyms": "Albinism I.; Albinism oculocutaneous IA.; ATN.; OCA-1A.; OCA-IA.; Oculocutaneous albinism tyrosinase negative.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 2.",
"acronym": "OCA2.",
"accession": "DI-02085",
"synonyms": "Albinism II.; BOCA.; Brown oculocutaneous albinism.; OCA-2.; Oculocutaneous albinism type II.; Oculocutaneous albinism tyrosinase-positive.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 3.",
"acronym": "OCA3.",
"accession": "DI-02090",
"synonyms": "Albinism III.; OCA-III.; Oculocutaneous albinism type III.; ROCA.; Rufous oculocutaneous albinism.; Xanthism.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 4.",
"acronym": "HPS4.",
"accession": "DI-00560",
"synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ",
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 6.",
"acronym": "HPS6.",
"accession": "DI-00562",
"synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ",
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 2.",
"acronym": "HPS2.",
"accession": "DI-00558",
"synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ",
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
}
]
}