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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=880&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=840&ordering=-identifier",
"results": [
{
"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 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/branched-chain acyl-CoA dehydrogenase deficiency.",
"acronym": "SBCADD.",
"accession": "DI-02302",
"synonyms": "2-methylbutyryl-CoA dehydrogenase deficiency.; 2-methylbutyryl glycinuria.; ",
"cross_references": "MedGen; C1864912.",
"definition": "Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2- methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. ",
"keywords": null
},
{
"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": "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": "Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative.",
"acronym": "XSCID.",
"accession": "DI-01022",
"synonyms": "Agammaglobulinemia Swiss type.; IMD4.; Immunodeficiency 4.; SCIDX.; SCIDX1.; SCID X-linked.; Severe combined immunodeficiency X-linked T cell-negative/B cell-positive/NK cell-negative.; Severe combined immunodeficiency X-linked T-cell negative/B-cell positive/NK-cell negative.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Severe combined immunodeficiency due to NHEJ1 deficiency.",
"acronym": "NHEJ1-SCID.",
"accession": "DI-02297",
"synonyms": "Autosomal recessive T-cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation.; NHEJ1 syndrome.; ",
"cross_references": "MedGen; C1969800.",
"definition": "SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. ",
"keywords": null
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative.",
"acronym": "T(-)B(+)NK(-) SCID.",
"accession": "DI-01017",
"synonyms": "Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-negative.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell negative.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation.",
"acronym": "RSSCID.",
"accession": "DI-01020",
"synonyms": "Athabascan SCID.; SCIDA.; Severe combined immunodeficiency with sensitivity to ionizing radiation.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive.",
"acronym": "T(-)B(-)NK(+) SCID.",
"accession": "DI-01019",
"synonyms": "SCID T cell-negative B cell-negative NK cell-positive.; Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-negative/NK cell-positive.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell positive.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency.",
"acronym": "ADASCID.",
"accession": "DI-01016",
"synonyms": "ADA deficiency.; Adenosine deaminase deficiency.; SCID due to ADA deficiency.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell negative due to adenosine deaminase deficiency.; Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due to adenosine deaminase deficiency.; Severe combined immunodeficiency due to ADA deficiency.; ",
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive disorder accounting for about 50% of non-X- linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell- mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency. ",
"keywords": "KW-0705:SCID.; "
},
{
"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": "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": "Septooptic dysplasia.",
"acronym": "SOD.",
"accession": "DI-02296",
"synonyms": "de Morsier syndrome.; Septo-optic dysplasia with growth hormone deficiency.; ",
"cross_references": "MeSH; D025962.",
"definition": "A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. ",
"keywords": null
},
{
"identifier": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis.",
"acronym": "SANDO.",
"accession": "DI-01014",
"synonyms": "MIRAS.; Mitochondrial recessive ataxia syndrome.; Mitochondrial spinocerebellar ataxia-epilepsy syndrome.; MSCAE.; SCAE.; Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive.; Spinocerebellar ataxia with epilepsy.; ",
"cross_references": "MeSH; D015417.",
"definition": "A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Senior-Loken syndrome 9.",
"acronym": "SLSN9.",
"accession": "DI-04575",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
},
{
"identifier": "Senior-Loken syndrome 8.",
"acronym": "SLSN8.",
"accession": "DI-04390",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
},
{
"identifier": "Senior-Loken syndrome 7.",
"acronym": "SLSN7.",
"accession": "DI-02941",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
},
{
"identifier": "Senior-Loken syndrome 6.",
"acronym": "SLSN6.",
"accession": "DI-01012",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
},
{
"identifier": "Senior-Loken syndrome 5.",
"acronym": "SLSN5.",
"accession": "DI-01011",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
}
]
}