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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6580",
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"results": [
{
"identifier": "Usmani-Riazuddin syndrome, autosomal dominant.",
"acronym": "USRISD.",
"accession": "DI-06259",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Usmani-Riazuddin syndrome, autosomal recessive.",
"acronym": "USRISR.",
"accession": "DI-06260",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "UV-sensitive syndrome 1.",
"acronym": "UVSS1.",
"accession": "DI-02407",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ",
"keywords": null
},
{
"identifier": "UV-sensitive syndrome 2.",
"acronym": "UVSS2.",
"accession": "DI-03443",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ",
"keywords": null
},
{
"identifier": "UV-sensitive syndrome 3.",
"acronym": "UVSS3.",
"accession": "DI-03444",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. ",
"keywords": null
},
{
"identifier": "VACTERL association.",
"acronym": "VACTERL.",
"accession": "DI-02577",
"synonyms": null,
"cross_references": "MedGen; C1735591.",
"definition": "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ",
"keywords": null
},
{
"identifier": "VACTERL association with hydrocephalus.",
"acronym": "VACTERL-H.",
"accession": "DI-02408",
"synonyms": null,
"cross_references": "MedGen; C2749240.",
"definition": "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ",
"keywords": null
},
{
"identifier": "VACTERL association X-linked with or without hydrocephalus.",
"acronym": "VACTERLX.",
"accession": "DI-02462",
"synonyms": "VACTERL syndrome.; Vertebral anal tracheoesophageal esophageal radial anomalies.; X-linked VACTERL-H.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. ",
"keywords": null
},
{
"identifier": "Van Buchem disease.",
"acronym": "VBCH.",
"accession": "DI-01121",
"synonyms": "Endosteal hyperostosis autosomal recessive.; Hyperostosis corticalis generalisata.; Hyperphosphatasemia tarda.; ",
"cross_references": "MeSH; D010009.",
"definition": "VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. ",
"keywords": null
},
{
"identifier": "Van Buchem disease 2.",
"acronym": "VBCH2.",
"accession": "DI-01122",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels. ",
"keywords": null
},
{
"identifier": "Van den Ende-Gupta syndrome.",
"acronym": "VDEGS.",
"accession": "DI-03057",
"synonyms": "Blepharophimosis arachnodactyly and congenital contractures.; Marden-Walker-like syndrome without psychomotor retardation.; ",
"cross_references": "MeSH; D054119.",
"definition": "A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly. Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. Some patients experience respiratory problems due to laryngeal abnormalities. ",
"keywords": null
},
{
"identifier": "Van der Woude syndrome 1.",
"acronym": "VWS1.",
"accession": "DI-01123",
"synonyms": "Cleft lip and/or palate with mucous cysts of lower lip.; Lip-pit syndrome.; LPS.; PIT.; VDWS.; ",
"cross_references": "MeSH; D002972.",
"definition": "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ",
"keywords": null
},
{
"identifier": "Van der Woude syndrome 2.",
"acronym": "VWS2.",
"accession": "DI-03278",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ",
"keywords": null
},
{
"identifier": "Van Esch-O'Driscoll syndrome.",
"acronym": "VEODS.",
"accession": "DI-05626",
"synonyms": "MRXSVEOD.; ",
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Van Maldergem syndrome 1.",
"acronym": "VMLDS1.",
"accession": "DI-03982",
"synonyms": "Cerebrofacioarticular syndrome.; Cerebro-facio-articular syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Van Maldergem syndrome 2.",
"acronym": "VMLDS2.",
"accession": "DI-03983",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Variegate porphyria.",
"acronym": "VP.",
"accession": "DI-00928",
"synonyms": "Porphyria South African type.; Porphyria variegata.; PPOX deficiency.; Protoporphyrinogen oxidase deficiency.; PV.; ",
"cross_references": "MeSH; D046350.",
"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. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Variegate porphyria, childhood-onset.",
"acronym": "VPCO.",
"accession": "DI-06749",
"synonyms": "Variegate porphyria, homozygous variant.; ",
"cross_references": "MeSH; D046350.",
"definition": "An autosomal recessive form of variegate porphyria, a disorder of heme biosynthesis that results from diminished activity of protoporphyrinogen oxidase. VPCO is characterized by severe protoporphyrinogen oxidase deficiency, onset of photosensitization by porphyrins in early childhood, skin scarring and hyperpigmentation, and skeletal abnormalities of the hand. Additional variable features are short stature, impaired intellectual development, and seizures. VPCO patients rarely experience acute neuropsychiatric or abdominal attacks. ",
"keywords": null
},
{
"identifier": "Vascular malformation, primary intraosseous.",
"acronym": "VMPI.",
"accession": "DI-04828",
"synonyms": "Hemangioma, intraosseous.; Vascular malformation osseous.; VMOS.; ",
"cross_references": "MeSH; D054079.",
"definition": "An autosomal recessive, rare malformation characterized by non- neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. ",
"keywords": null
},
{
"identifier": "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.",
"acronym": "VAIHS.",
"accession": "DI-04055",
"synonyms": "ADA2 deficiency.; PAN.; Periarteritis nodosa.; Polyarteritis nodosa.; ",
"cross_references": "MeSH; D010488.",
"definition": "An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. ",
"keywords": null
}
]
}