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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5380&ordering=-synonyms",
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"results": [
{
"identifier": "Corneal dystrophy, Groenouw type 1.",
"acronym": "CDGG1.",
"accession": "DI-01427",
"synonyms": "Corneal dystrophy Groenouw type I.; GCD1.; Granular corneal dystrophy type I.; MeSH; D003317.; Punctate or nodular corneal dystrophy.; ",
"cross_references": "MedGen; C1641846.",
"definition": "A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 6.",
"acronym": "FECD6.",
"accession": "DI-02766",
"synonyms": "Corneal dystrophy Fuchs endothelial late-onset.; Fuchs dystrophy late-onset.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 4.",
"acronym": "FECD4.",
"accession": "DI-02765",
"synonyms": "Corneal dystrophy Fuchs endothelial late-onset.; Fuchs dystrophy late-onset.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 1.",
"acronym": "FECD1.",
"accession": "DI-01636",
"synonyms": "Corneal dystrophy Fuchs endothelial early-onset.; Fuchs dystrophy.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, fleck.",
"acronym": "CFD.",
"accession": "DI-01431",
"synonyms": "Corneal dystrophy Francois-Neetens speckled or flecked.; FCD.; Fleck corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hereditary coproporphyria.",
"acronym": "HCP.",
"accession": "DI-00545",
"synonyms": "Coproporphyrinogen oxidase deficiency.; CPO deficiency.; CPOX deficiency.; CPRO deficiency.; ",
"cross_references": "MeSH; D046349.",
"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. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 7.",
"acronym": "ASGD7.",
"accession": "DI-04168",
"synonyms": "COPOA.; Corneal opacification with other ocular anomalies.; Sclerocornea with other ocular anomalies.; ",
"cross_references": "MeSH; D003316.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease. ",
"keywords": null
},
{
"identifier": "Wieacker-Wolf syndrome.",
"acronym": "WRWF.",
"accession": "DI-03791",
"synonyms": "Contractures of feet, muscle atrophy, and oculomotor apraxia.; MCS.; MRXS4.; Oculomotor apraxia with congenital contractures and muscle atrophy.; Wieacker syndrome.; ",
"cross_references": "MeSH; D009886.",
"definition": "A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show intellectual disability. Carrier females may have mild features of the disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Delayed puberty, self-limited.",
"acronym": "DPSL.",
"accession": "DI-06269",
"synonyms": "Constitutional delay of puberty.; ",
"cross_references": "MeSH; D011628.",
"definition": "A condition defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 SD later than the population mean. DPSL is often familial and is highly heritable, most commonly seen with an autosomal dominant inheritance pattern. ",
"keywords": null
},
{
"identifier": "Short-rib thoracic dysplasia 9 with or without polydactyly.",
"acronym": "SRTD9.",
"accession": "DI-03475",
"synonyms": "Conorenal syndrome.; Mainzer-Saldino disease.; Mainzer-Saldino syndrome.; MSS.; MZSDS.; Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia.; ",
"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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Dyslexia 1.",
"acronym": "DYX1.",
"accession": "DI-02608",
"synonyms": "Congenital word-blindness.; Dyslexia 4.; Dyslexia 7.; DYX4.; DYX7.; Specific reading disability type 1.; ",
"cross_references": "MedGen; C1851969.",
"definition": "A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. ",
"keywords": null
},
{
"identifier": "Cardiac valvular dysplasia, X-linked.",
"acronym": "CVDPX.",
"accession": "DI-02915",
"synonyms": "Congenital valvular heart disease.; EDS5.; Ehlers-Danlos syndrome type V.; X-linked myxomatous valvular dystrophy.; XMVD.; ",
"cross_references": "MeSH; D006349.",
"definition": "A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. ",
"keywords": null
},
{
"identifier": "Diarrhea 5, with tufting enteropathy, congenital.",
"acronym": "DIAR5.",
"accession": "DI-02845",
"synonyms": "Congenital tufting enteropathy.; CTE.; Intestinal epithelial cell dysplasia.; ",
"cross_references": "MeSH; D003968.",
"definition": "An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. ",
"keywords": null
},
{
"identifier": "Oliver-McFarlane syndrome.",
"acronym": "OMCS.",
"accession": "DI-04369",
"synonyms": "Congenital trichomegaly, pigmentary retinal degeneration, and short stature.; Trichomegaly, retina pigmentary degeneration, dwarfism.; Trichomegaly retina pigmentary degeneration dwarfism.; ",
"cross_references": "MeSH; D058499.",
"definition": "A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. ",
"keywords": "KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperekplexia 1.",
"acronym": "HKPX1.",
"accession": "DI-01087",
"synonyms": "Congenital stiff-man syndrome.; Congenital stiff-person syndrome.; Exaggerated startle reaction.; Familial startle disease.; Hereditary hyperexplexia 1.; Hyperekplexia hereditary 1 autosomal dominant or recessive.; Kok disease.; STHE.; Stiff-baby syndrome.; ",
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. ",
"keywords": null
},
{
"identifier": "Night blindness, congenital stationary, 2A.",
"acronym": "CSNB2A.",
"accession": "DI-00376",
"synonyms": "Congenital stationary night blindness type 2.; Incomplete X-linked CSNB.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 2.",
"acronym": "CSNBAD2.",
"accession": "DI-00372",
"synonyms": "Congenital stationary night blindness Rambusch type.; Hemeralopia.; Hemeralopia congenital essential.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 3.",
"acronym": "CSNBAD3.",
"accession": "DI-00373",
"synonyms": "Congenital stationary night blindness Nougaret type.; Hemeralopia congenital essential.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.",
"acronym": "DIAR3.",
"accession": "DI-01417",
"synonyms": "Congenital sodium diarrhea.; CSD.; Diarrhea 3, secretory sodium, congenital, syndromic.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. ",
"keywords": null
},
{
"identifier": "Congenital short bowel syndrome.",
"acronym": "CSBS.",
"accession": "DI-03743",
"synonyms": "Congenital short bowel and malrotation syndrome.; CSBM.; ",
"cross_references": "MeSH; D012778.",
"definition": "A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life. ",
"keywords": null
}
]
}