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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=80&ordering=-identifier",
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"results": [
{
"identifier": "Werner syndrome.",
"acronym": "WRN.",
"accession": "DI-01145",
"synonyms": null,
"cross_references": "MeSH; D014898.",
"definition": "A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. ",
"keywords": null
},
{
"identifier": "Welander distal myopathy.",
"acronym": "WDM.",
"accession": "DI-03766",
"synonyms": "Late-onset autosomal dominant distal muscular dystrophy.; Swedish distal myopathy.; ",
"cross_references": "MeSH; D049310.",
"definition": "An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. ",
"keywords": null
},
{
"identifier": "Weiss-Kruszka syndrome.",
"acronym": "WSKA.",
"accession": "DI-05675",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging. ",
"keywords": null
},
{
"identifier": "Weill-Marchesani syndrome 4.",
"acronym": "WMS4.",
"accession": "DI-02827",
"synonyms": "Weill-Marchesani-like syndrome.; WMSL.; ",
"cross_references": "MeSH; D015785.",
"definition": "An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Weill-Marchesani syndrome 3.",
"acronym": "WMS3.",
"accession": "DI-03526",
"synonyms": null,
"cross_references": "MeSH; D056846.",
"definition": "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Weill-Marchesani syndrome 2.",
"acronym": "WMS2.",
"accession": "DI-01142",
"synonyms": "Autosomal dominant Weill-Marchesani syndrome.; Congenital mesodermal dysmorphodystrophy.; GEMSS.; Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome.; Spherophakia-brachymorphia syndrome.; ",
"cross_references": "MeSH; D056846.",
"definition": "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Weill-Marchesani syndrome 1.",
"acronym": "WMS1.",
"accession": "DI-01143",
"synonyms": "Autosomal recessive Weill-Marchesani syndrome.; Congenital mesodermal dysmorphodystrophy.; Spherophakia-brachymorphia syndrome.; ",
"cross_references": "MeSH; D056846.",
"definition": "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Webb-Dattani syndrome.",
"acronym": "WEDAS.",
"accession": "DI-04175",
"synonyms": "Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by postnatal microcephaly with fronto- temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. ",
"keywords": null
},
{
"identifier": "Weaver syndrome.",
"acronym": "WVS.",
"accession": "DI-01141",
"synonyms": "Weaver-Smith syndrome.; Weaver syndrome 1.; Weaver syndrome 2.; WSS.; WVS1.; WVS2.; ",
"cross_references": "MeSH; D006130.",
"definition": "A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. ",
"keywords": null
},
{
"identifier": "Watson syndrome.",
"acronym": "WTSN.",
"accession": "DI-01140",
"synonyms": "Pulmonary stenosis with cafe-au-lait spots.; ",
"cross_references": "MeSH; D009456.",
"definition": "A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis. ",
"keywords": null
},
{
"identifier": "Warsaw breakage syndrome.",
"acronym": "WBRS.",
"accession": "DI-02764",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. ",
"keywords": null
},
{
"identifier": "Warfarin sensitivity, X-linked.",
"acronym": "WARFS.",
"accession": "DI-05867",
"synonyms": "Coumarin sensitivity, X-linked.; ",
"cross_references": "MeSH; D004351.",
"definition": "A condition characterized by sensitivity to warfarin, a drugs used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. Warfarin sensitive individuals develop bleeding complications when they are given warfarin within the therapeutic ranges. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 4.",
"acronym": "WARBM4.",
"accession": "DI-04041",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 3.",
"acronym": "WARBM3.",
"accession": "DI-03229",
"synonyms": "Micro syndrome 3.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 2.",
"acronym": "WARBM2.",
"accession": "DI-03228",
"synonyms": "Micro syndrome 2.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 1.",
"acronym": "WARBM1.",
"accession": "DI-02418",
"synonyms": "Micro syndrome.; WARBM.; Warburg micro syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg-Cinotti syndrome.",
"acronym": "WRCN.",
"accession": "DI-05476",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro- osteolysis. ",
"keywords": null
},
{
"identifier": "Waisman syndrome.",
"acronym": "WSMN.",
"accession": "DI-04321",
"synonyms": "BGMR.; WSN.; ",
"cross_references": "MeSH; D010300.",
"definition": "A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. ",
"keywords": "KW-0907:Parkinson disease.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Wagner vitreoretinopathy.",
"acronym": "WGVRP.",
"accession": "DI-02416",
"synonyms": "Erosive vitreoretinopathy.; ERVR.; Hyaloideoretinal degeneration of Wagner.; Wagner syndrome 1.; Wagner vitreoretinal degeneration.; WGN1.; ",
"cross_references": "MeSH; D012162.",
"definition": "A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia. ",
"keywords": null
},
{
"identifier": "Waardenburg syndrome 4C.",
"acronym": "WS4C.",
"accession": "DI-02676",
"synonyms": "Hirschsprung disease with pigmentary anomaly.; Shah-Waardenburg syndrome.; Waardenburg-Shah syndrome.; Waardenburg syndrome type IVC.; Waardenburg syndrome with Hirschsprung disease type 4C.; ",
"cross_references": "MeSH; D014849.",
"definition": "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). ",
"keywords": "KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
}
]
}