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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2600&ordering=synonyms",
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"results": [
{
"identifier": "Transient familial neonatal hyperbilirubinemia.",
"acronym": "HBLRTFN.",
"accession": "DI-02379",
"synonyms": "Lucey-Driscoll syndrome.; ",
"cross_references": "MedGen; C1855967.",
"definition": "A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type.",
"acronym": "MRXSLF.",
"accession": "DI-01917",
"synonyms": "Lujan-Fryns syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate intellectual disability, behavioral aberrations and dysgenesis of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Pentosuria.",
"acronym": "PNTSU.",
"accession": "DI-04062",
"synonyms": "L-xylulose reductase deficiency.; L-xylulosuria.; Xylitol dehydrogenase deficiency.; ",
"cross_references": "MedGen; C0268162.",
"definition": "An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose. ",
"keywords": null
},
{
"identifier": "Lymphedema-yellow nails.",
"acronym": "LYYN.",
"accession": "DI-00691",
"synonyms": "Lymphedema and yellow nails.; Yellow nail syndrome.; YNS.; ",
"cross_references": "MeSH; D008209.",
"definition": "A disorder characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities. ",
"keywords": null
},
{
"identifier": "Lymphedema-distichiasis syndrome.",
"acronym": "LPHDST.",
"accession": "DI-00690",
"synonyms": "Lymphedema with distichiasis.; ",
"cross_references": "MeSH; D008209.",
"definition": "An autosomal dominant disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. ",
"keywords": null
},
{
"identifier": "Lymphoproliferative syndrome 1.",
"acronym": "LPFS1.",
"accession": "DI-02628",
"synonyms": "Lymphoproliferative syndrome, EBV-associated, autosomal, 1.; ",
"cross_references": "MeSH; D008232.",
"definition": "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. ",
"keywords": null
},
{
"identifier": "Brachycephaly, trichomegaly, and developmental delay.",
"acronym": "BTDD.",
"accession": "DI-04991",
"synonyms": "MacInnes syndrome.; MCINS.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; "
},
{
"identifier": "MACS syndrome.",
"acronym": "MACS.",
"accession": "DI-02637",
"synonyms": "Macrocephaly alopecia cutis laxa and scoliosis syndrome.; Tall forehead, sparse hair, skin hyperextensibility, and scoliosis.; ",
"cross_references": "MeSH; D058627.",
"definition": "A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications. ",
"keywords": null
},
{
"identifier": "Megalencephaly-capillary malformation-polymicrogyria syndrome.",
"acronym": "MCAP.",
"accession": "DI-03624",
"synonyms": "Macrocephaly-capillary malformation.; Macrocephaly-cutis marmorata telangiectatica congenita.; MCM.; MCMTC.; Megalencephaly-capillary malformation syndrome.; Megalencephaly-cutis marmorata telangiectatica congenita.; ",
"cross_references": "MeSH; D058627.",
"definition": "A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. ",
"keywords": null
},
{
"identifier": "Smith-Kingsmore syndrome.",
"acronym": "SKS.",
"accession": "DI-04576",
"synonyms": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.; MINDS syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. ",
"keywords": "KW-0887:Epilepsy.; 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": "Macroglobulinemia, Waldenstrom, 1.",
"acronym": "WM1.",
"accession": "DI-06042",
"synonyms": "Macroglobulinemia, Waldenstrom, somatic.; ",
"cross_references": "MeSH; D008258.",
"definition": "A malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein. Clinical features are variable and include anemia, thrombocytopenia, hepatosplenomegaly, and lymphadenopathy. Many patients have asymptomatic or indolent disease. ",
"keywords": null
},
{
"identifier": "Stargardt disease 3.",
"acronym": "STGD3.",
"accession": "DI-01085",
"synonyms": "Macular dystrophy autosomal dominant chromosome 6-linked.; Macular dystrophy with flecks type 3.; Stargardt-like macular dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Macular dystrophy, patterned, 2.",
"acronym": "MDPT2.",
"accession": "DI-04710",
"synonyms": "Macular dystrophy, butterfly-shaped pigmentary, 2.; ",
"cross_references": "MeSH; D058499.",
"definition": "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly. ",
"keywords": null
},
{
"identifier": "Enchondromatosis multiple.",
"acronym": "ENCHOM.",
"accession": "DI-01524",
"synonyms": "Maffucci disease.; Ollier disease.; Osteochondromatosis.; ",
"cross_references": "MeSH; D018210.",
"definition": "A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. ",
"keywords": null
},
{
"identifier": "Short-rib thoracic dysplasia 6 with or without polydactyly.",
"acronym": "SRTD6.",
"accession": "DI-03018",
"synonyms": "Majewski syndrome.; Polydactyly with neonatal chondrodystrophy type II.; Short rib-polydactyly syndrome 2A.; Short rib-polydactyly syndrome type II.; Short rib-polydactyly syndrome type IIA.; SRPS2A.; SRPS type II.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Malan syndrome.",
"acronym": "MALNS.",
"accession": "DI-03506",
"synonyms": "Malan overgrowth syndrome.; SOTOS2.; Sotos syndrome 2.; ",
"cross_references": "MeSH; D058495.",
"definition": "An autosomal dominant syndrome characterized by overgrowth, advanced bone age, macrocephaly, impaired intellectual development, behavior anomalies, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly. ",
"keywords": null
},
{
"identifier": "MEND syndrome.",
"acronym": "MEND.",
"accession": "DI-04527",
"synonyms": "Male EBP disorder with neurological defects.; ",
"cross_references": "MeSH; D043202.",
"definition": "An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 17.",
"acronym": "SPGF17.",
"accession": "DI-04868",
"synonyms": "Male infertility due to oocyte activation failure.; ",
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 2.",
"acronym": "SPGFX2.",
"accession": "DI-04467",
"synonyms": "Male infertility from defect in meiosis.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest. ",
"keywords": null
}
]
}