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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5780&ordering=identifier",
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"results": [
{
"identifier": "Robinow syndrome, autosomal dominant 3.",
"acronym": "DRS3.",
"accession": "DI-04701",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Robinow syndrome, autosomal recessive 1.",
"acronym": "RRS1.",
"accession": "DI-02247",
"synonyms": "Costovertebral segmentation defect with mesomelia.; COVESDEM syndrome.; Robinow syndrome autosomal recessive with aplasia/hypoplasia of phalanges and metacarpals/metatarsals.; Robinow syndrome autosomal recessive with brachy-syn-polydactyly.; ",
"cross_references": "MeSH; D019465.",
"definition": "A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Robinow syndrome, autosomal recessive 2.",
"acronym": "RRS2.",
"accession": "DI-05633",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Rod-cone dystrophy Newfoundland.",
"acronym": "NFRCD.",
"accession": "DI-01005",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. ",
"keywords": null
},
{
"identifier": "Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction.",
"acronym": "RCDFRD.",
"accession": "DI-06374",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal recessive disease characterized by visual impairment due to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type renal dysfunction resulting in rickets-like skeletal changes. Death may occur in childhood or young adulthood due to renal failure. Disease onset is before age 5 years. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Roifman-Chitayat syndrome.",
"acronym": "ROCHIS.",
"accession": "DI-06090",
"synonyms": "Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay.; ",
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. ",
"keywords": null
},
{
"identifier": "Rokitansky-Kuster-Hauser syndrome.",
"acronym": "RKH syndrome.",
"accession": "DI-02273",
"synonyms": "Mayer-Rokitansky-Kuster-Hauser syndrome.; MRKH anomaly.; MRKH syndrome.; ",
"cross_references": "MedGen; C1698581.",
"definition": "Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls. ",
"keywords": null
},
{
"identifier": "Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked.",
"acronym": "RESDX.",
"accession": "DI-02456",
"synonyms": null,
"cross_references": "MeSH; D019305.",
"definition": "A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Rothmund-Thomson syndrome 1.",
"acronym": "RTS1.",
"accession": "DI-05679",
"synonyms": "Poikiloderma atrophicans and cataract.; Rothmund-Thomson syndrome, type 1.; ",
"cross_references": "MeSH; D011038.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS1 is an autosomal recessive form not associated with an increased risk of cancer. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Rothmund-Thomson syndrome 2.",
"acronym": "RTS2.",
"accession": "DI-02274",
"synonyms": null,
"cross_references": "MeSH; D011038.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Rothmund-Thomson syndrome 3.",
"acronym": "RTS3.",
"accession": "DI-04112",
"synonyms": "Short stature with microcephaly and distinctive facies.; SSMCF.; ",
"cross_references": "MeSH; D019066.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Rothmund-Thomson syndrome 4.",
"acronym": "RTS4.",
"accession": "DI-06901",
"synonyms": "Rothmund-Thomson syndrome, type 4.; ",
"cross_references": "MeSH; D019066.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. Inheritance is autosomal recessive. RTS4 patients also exhibit microcephaly and photosensitivity with bullae. Growth failure is severe, with some individuals showing signs of growth hormone or combined pituitary hormone deficiency. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Roussy-Levy syndrome.",
"acronym": "ROULS.",
"accession": "DI-02275",
"synonyms": "Roussy-Levy hereditary areflexic dystasia.; ",
"cross_references": "MedGen; C0205713.",
"definition": "Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. ",
"keywords": null
},
{
"identifier": "Rubinstein-Taybi syndrome 1.",
"acronym": "RSTS1.",
"accession": "DI-02730",
"synonyms": "Broad thumb-hallux syndrome.; RSTS.; Rubinstein syndrome.; ",
"cross_references": "MeSH; D012415.",
"definition": "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. ",
"keywords": null
},
{
"identifier": "Rubinstein-Taybi syndrome 2.",
"acronym": "RSTS2.",
"accession": "DI-02976",
"synonyms": null,
"cross_references": "MeSH; D012415.",
"definition": "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. ",
"keywords": null
},
{
"identifier": "Ruijs-Aalfs syndrome.",
"acronym": "RJALS.",
"accession": "DI-04313",
"synonyms": null,
"cross_references": "MeSH; D049914.",
"definition": "A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma. ",
"keywords": null
},
{
"identifier": "Sacral agenesis with vertebral anomalies.",
"acronym": "SAVA.",
"accession": "DI-04072",
"synonyms": null,
"cross_references": "MeSH; D013122.",
"definition": "A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. ",
"keywords": null
},
{
"identifier": "Sacral defect with anterior meningocele.",
"acronym": "SDAM.",
"accession": "DI-02277",
"synonyms": null,
"cross_references": "MedGen; C1838569.",
"definition": "Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Saethre-Chotzen syndrome.",
"acronym": "SCS.",
"accession": "DI-01006",
"synonyms": "Acrocephalosyndactyly type 3.; ACS3.; ACS III.; ",
"cross_references": "MeSH; D000168.",
"definition": "A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Salla disease.",
"acronym": "SD.",
"accession": "DI-02278",
"synonyms": "Finnish type sialuria.; ",
"cross_references": "MedGen; C1096903.",
"definition": "Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. ",
"keywords": null
}
]
}