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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6000&ordering=-synonyms",
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"results": [
{
"identifier": "Leukodystrophy, hypomyelinating, 1.",
"acronym": "HLD1.",
"accession": "DI-00648",
"synonyms": "Brain sclerosis diffuse familial.; Pelizaeus-Merzbacher brain sclerosis.; Pelizaeus-Merzbacher disease.; PMD.; Sudanophilic leukodystrophy Paelizeus-Merzbacher type.; ",
"cross_references": "MeSH; D020371.",
"definition": "An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction.",
"acronym": "CAHTP.",
"accession": "DI-01345",
"synonyms": "Brain-lung-thyroid syndrome.; Choreoathetosis, hypothyroidism, and neonatal respiratory distress.; ",
"cross_references": "MeSH; D012127.",
"definition": "An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Parkinsonism-dystonia 2, infantile-onset.",
"acronym": "PKDYS2.",
"accession": "DI-05288",
"synonyms": "Brain dopamine-serotonin vesicular transport disease.; Brain monoamine vesicular transport disease.; ",
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Prolonged electroretinal response suppression 1.",
"acronym": "PERRS1.",
"accession": "DI-02219",
"synonyms": "Bradyopsia.; PERRS.; Prolonged electroretinal response suppression.; ",
"cross_references": "MeSH; D015785.",
"definition": "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS1 is an autosomal recessive form with onset in childhood. ",
"keywords": null
},
{
"identifier": "Prolonged electroretinal response suppression 2.",
"acronym": "PERRS2.",
"accession": "DI-06665",
"synonyms": "Bradyopsia 2.; ",
"cross_references": "MeSH; D015785.",
"definition": "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS2 is an autosomal recessive form with onset in childhood. ",
"keywords": null
},
{
"identifier": "Dental anomalies and short stature.",
"acronym": "DASS.",
"accession": "DI-02717",
"synonyms": "Brachyolmia-amelogenesis imperfecta syndrome.; Platyspondyly with amelogenesis imperfecta.; STHAG6.; Tooth agenesis, selective, 6.; VBS.; Verloes Bourguignon syndrome.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel. ",
"keywords": "KW-0242:Dwarfism.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Brachydactyly A2.",
"acronym": "BDA2.",
"accession": "DI-00195",
"synonyms": "Brachymesophalangy II.; Mohr-Wriedt type brachydactyly.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. ",
"keywords": null
},
{
"identifier": "Feingold syndrome 2.",
"acronym": "FGLDS2.",
"accession": "DI-03283",
"synonyms": "Brachydactyly with short stature and microcephaly.; ",
"cross_references": "MeSH; D017880.",
"definition": "A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes. ",
"keywords": null
},
{
"identifier": "Liebenberg syndrome.",
"acronym": "LBNBG.",
"accession": "DI-03623",
"synonyms": "Brachydactyly with joint dysplasia.; Carpal synostosis with dysplastic elbow joints and brachydactyly.; ",
"cross_references": "MeSH; D059327.",
"definition": "An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. ",
"keywords": null
},
{
"identifier": "Brachydactyly A1, D.",
"acronym": "BDA1D.",
"accession": "DI-04670",
"synonyms": "Brachydactyly, type A1, D.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Brachydactyly C.",
"acronym": "BDC.",
"accession": "DI-00197",
"synonyms": "Brachydactyly Haws type.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others. ",
"keywords": null
},
{
"identifier": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.",
"acronym": "DOORS.",
"accession": "DI-03992",
"synonyms": "Brachydactyly due to absence of distal phalanges.; Digitorenocerebral syndrome.; DOOR syndrome.; DRC syndrome.; Eronen syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by sensorineural deafness, intellectual disability, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. ",
"keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Brachydactyly A1, C.",
"acronym": "BDA1C.",
"accession": "DI-03654",
"synonyms": "Brachydactyly A1C.; Brachydactyly type A1 C.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype. ",
"keywords": null
},
{
"identifier": "Elsahy-Waters syndrome.",
"acronym": "ESWS.",
"accession": "DI-05231",
"synonyms": "Brachioskeletogenital syndrome.; BSG syndrome.; Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by moderate intellectual disability, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian).",
"acronym": "CDCBM14B.",
"accession": "DI-04104",
"synonyms": "BPPR.; PMGR.; Polymicrogyria, bilateral perisylvian, autosomal recessive.; ",
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. It is considered to be the result of postmigratory abnormal cortical organization. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 1.",
"acronym": "PVNH1.",
"accession": "DI-00910",
"synonyms": "BPNH.; Familial nodular heterotopia.; NHBP.; Nodular heterotopia bilateral periventricular.; Periventricular heterotopia Ehlers-Danlos variant.; Periventricular heterotopia X-linked dominant.; Periventricular nodular heterotopia 4.; PVNH4.; ",
"cross_references": "MeSH; D054091.",
"definition": "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. ",
"keywords": null
},
{
"identifier": "Craniolenticulosutural dysplasia.",
"acronym": "CLSD.",
"accession": "DI-01444",
"synonyms": "Boyadjiev-Jabs syndrome.; Cranio-lenticulo-sutural dysplasia.; ",
"cross_references": "MeSH; D019465.",
"definition": "Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. ",
"keywords": null
},
{
"identifier": "Osteofibrous dysplasia.",
"acronym": "OSFD.",
"accession": "DI-04712",
"synonyms": "Bowing of tibia with pseudarthrosis and pectus excavatum.; OFD.; ",
"cross_references": "MeSH; D001848.",
"definition": "A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula. ",
"keywords": null
},
{
"identifier": "Bowen-Conradi syndrome.",
"acronym": "BWCNS.",
"accession": "DI-02492",
"synonyms": "Bowen syndrome Hutterite type.; ",
"cross_references": "MeSH; D005317.",
"definition": "A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. ",
"keywords": null
},
{
"identifier": "Tuberous sclerosis 1.",
"acronym": "TSC1.",
"accession": "DI-01106",
"synonyms": "Bourneville syndrome.; TS.; Tuberous sclerosis.; Tuberous sclerosis complex.; ",
"cross_references": "MeSH; D014402.",
"definition": "An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. ",
"keywords": null
}
]
}