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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6520&ordering=-synonyms",
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"results": [
{
"identifier": "Developmental and epileptic encephalopathy 39 with leukodystrophy.",
"acronym": "DEE39.",
"accession": "DI-02562",
"synonyms": "AGC1 deficiency.; Aspartate-glutamate carrier 1 deficiency.; EIEE39.; Epileptic encephalopathy, early infantile, 39.; Global cerebral hypomyelination.; Hypomyelination, global cerebral.; ",
"cross_references": "MeSH; D020279.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Cerebral creatine deficiency syndrome 3.",
"acronym": "CCDS3.",
"accession": "DI-01189",
"synonyms": "AGAT deficiency.; Arginine:glycine amidinotransferase deficiency.; Creatine deficiency syndrome due to AGAT deficiency.; GATM deficiency.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. ",
"keywords": null
},
{
"identifier": "Hirschsprung disease 2.",
"acronym": "HSCR2.",
"accession": "DI-01747",
"synonyms": "Aganglionic megacolon.; MGC.; ",
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Hirschsprung disease 1.",
"acronym": "HSCR1.",
"accession": "DI-01746",
"synonyms": "Aganglionic megacolon.; Colonic aganglionosis.; MGC.; ",
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Immunodeficiency 61.",
"acronym": "IMD61.",
"accession": "DI-05546",
"synonyms": "Agammaglobulinemia, X-linked, type 2.; AGMX2.; XLA2.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood. ",
"keywords": null
},
{
"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": "Agammaglobulinemia 8B, autosomal recessive.",
"acronym": "AGM8B.",
"accession": "DI-06388",
"synonyms": "Agammaglobulinemia, autosomal recessive, due to TCF3 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 9, autosomal recessive.",
"acronym": "AGM9.",
"accession": "DI-06309",
"synonyms": "Agammaglobulinemia, autosomal recessive, due to SLC39A7 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 7, autosomal recessive.",
"acronym": "AGM7.",
"accession": "DI-03723",
"synonyms": "Agammaglobulinemia autosomal recessive due to PIK3R1 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 2, autosomal recessive.",
"acronym": "AGM2.",
"accession": "DI-02888",
"synonyms": "Agammaglobulinemia autosomal recessive due to IGLL1 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 1, autosomal recessive.",
"acronym": "AGM1.",
"accession": "DI-01249",
"synonyms": "Agammaglobulinemia autosomal recessive due to IGHM defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 6, autosomal recessive.",
"acronym": "AGM6.",
"accession": "DI-02889",
"synonyms": "Agammaglobulinemia autosomal recessive due to CD79B defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 3, autosomal recessive.",
"acronym": "AGM3.",
"accession": "DI-02873",
"synonyms": "Agammaglobulinemia autosomal recessive due to CD79A defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 4, autosomal recessive.",
"acronym": "AGM4.",
"accession": "DI-02874",
"synonyms": "Agammaglobulinemia autosomal recessive due to BLNK defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 8A, autosomal dominant.",
"acronym": "AGM8A.",
"accession": "DI-04717",
"synonyms": "Agammaglobulinemia, autosomal dominant, due to TCF3 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 10, autosomal dominant.",
"acronym": "AGM10.",
"accession": "DI-06310",
"synonyms": "Agammaglobulinemia, autosomal dominant, due to SPI1 defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Agammaglobulinemia 5, autosomal dominant.",
"acronym": "AGM5.",
"accession": "DI-02875",
"synonyms": "Agammaglobulinemia autosomal dominant due to LRRC8A defect.; ",
"cross_references": "MeSH; D000361.",
"definition": "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. ",
"keywords": null
},
{
"identifier": "Growth hormone deficiency, isolated, 3, with agammaglobulinemia.",
"acronym": "IGHD3.",
"accession": "DI-02446",
"synonyms": "Agammaglobulinemia and isolated growth hormone deficiency.; Fleisher syndrome.; Isolated growth hormone deficiency, type III, with agammaglobulinemia.; Isolated growth hormone deficiency type 3.; X-linked hypogammaglobulinemia and isolated growth hormone deficiency.; ",
"cross_references": "MeSH; D004393.",
"definition": "An X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Aspartylglucosaminuria.",
"acronym": "AGU.",
"accession": "DI-00137",
"synonyms": "AGA deficiency.; Aspartylglucosaminidase deficiency.; Aspartylglycosaminuria.; Glycosylasparaginase deficiency.; ",
"cross_references": "MeSH; D054880.",
"definition": "An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. ",
"keywords": null
},
{
"identifier": "Pyrin-associated autoinflammatory disease.",
"acronym": "PAAND.",
"accession": "DI-05865",
"synonyms": "AFND.; Gomm-Button disease.; Neutrophilic dermatosis, acute febrile.; SS.; Sweet syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity. ",
"keywords": null
}
]
}