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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5880&ordering=synonyms",
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"results": [
{
"identifier": "Short stature, microcephaly, and endocrine dysfunction.",
"acronym": "SSMED.",
"accession": "DI-04525",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Rigidity and multifocal seizure syndrome, lethal neonatal.",
"acronym": "RMFSL.",
"accession": "DI-03404",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Ribose 5-phosphate isomerase deficiency.",
"acronym": "RPIAD.",
"accession": "DI-02268",
"synonyms": null,
"cross_references": "MeSH; D002239.",
"definition": "An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Sessile serrated polyposis cancer syndrome.",
"acronym": "SSPCS.",
"accession": "DI-04838",
"synonyms": null,
"cross_references": "MeSH; D003110.",
"definition": "A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers. ",
"keywords": null
},
{
"identifier": "Severe combined immunodeficiency Athabaskan type.",
"acronym": "SCIDA.",
"accession": "DI-01015",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "RHYNS syndrome.",
"acronym": "RHYNS.",
"accession": "DI-05440",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia. ",
"keywords": "KW-0209:Deafness.; KW-0682:Retinitis pigmentosa.; KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Rhizomelic limb shortening with dysmorphic features.",
"acronym": "RLSDF.",
"accession": "DI-05792",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum. ",
"keywords": null
},
{
"identifier": "Rhizomelic dysplasia, Ain-Naz type.",
"acronym": "RHZDAN.",
"accession": "DI-06238",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by short stature, marked rhizomelic shortening of the limbs, platyspondyly, hip dysplasia, and large hands and feet relative to height. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Rheumatoid arthritis.",
"acronym": "RA.",
"accession": "DI-02692",
"synonyms": null,
"cross_references": "MeSH; D001172.",
"definition": "An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. ",
"keywords": null
},
{
"identifier": "Rhegmatogenous retinal detachment autosomal dominant.",
"acronym": "DRRD.",
"accession": "DI-01000",
"synonyms": null,
"cross_references": "MeSH; D012163.",
"definition": "A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. ",
"keywords": null
},
{
"identifier": "Rhabdomyosarcoma, embryonal, 2.",
"acronym": "RMSE2.",
"accession": "DI-03929",
"synonyms": null,
"cross_references": "MeSH; D018233.",
"definition": "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. ",
"keywords": null
},
{
"identifier": "Shaheen syndrome.",
"acronym": "SHNS.",
"accession": "DI-03822",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome characterized by severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Shashi-Pena syndrome.",
"acronym": "SHAPNS.",
"accession": "DI-04877",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Short QT syndrome 1.",
"acronym": "SQT1.",
"accession": "DI-01024",
"synonyms": null,
"cross_references": "MeSH; D001145.",
"definition": "A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ",
"keywords": "KW-0940:Short QT syndrome.; "
},
{
"identifier": "Short QT syndrome 2.",
"acronym": "SQT2.",
"accession": "DI-01025",
"synonyms": null,
"cross_references": "MeSH; D001145.",
"definition": "An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ",
"keywords": "KW-0940:Short QT syndrome.; "
},
{
"identifier": "Short QT syndrome 3.",
"acronym": "SQT3.",
"accession": "DI-01026",
"synonyms": null,
"cross_references": "MeSH; D001145.",
"definition": "A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. ",
"keywords": "KW-0940:Short QT syndrome.; "
},
{
"identifier": "Short QT syndrome 7.",
"acronym": "SQT7.",
"accession": "DI-06598",
"synonyms": null,
"cross_references": "MeSH; D001145.",
"definition": "An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ",
"keywords": "KW-0940:Short QT syndrome.; "
},
{
"identifier": "Rhabdomyolysis 1.",
"acronym": "RHABDO1.",
"accession": "DI-06601",
"synonyms": null,
"cross_references": "MeSH; D012206.",
"definition": "An autosomal recessive disorder characterized by severe and recurrent rhabdomyolysis, usually with onset in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Rhabdomyolysis is the rapid breakdown of damaged or injured skeletal myofibres and may require intensive care management. Muscle breakdown results in release of myofibrillar content into the extracellular space and circulation, resulting in hyperCKemia (hyperCK) and myoglobinuria. RHABDO1 patients may have a history of myalgia and muscle cramps that precede the initial rhabdomyolysis episodes. ",
"keywords": null
},
{
"identifier": "Short stature and microcephaly with genital anomalies.",
"acronym": "SSMGA.",
"accession": "DI-05717",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Short stature with non-specific skeletal abnormalities.",
"acronym": "SNSK.",
"accession": "DI-04508",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}