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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=220&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=180&ordering=synonyms",
"results": [
{
"identifier": "Episodic ataxia 1.",
"acronym": "EA1.",
"accession": "DI-00475",
"synonyms": "AEMK.; EA-1.; EAM.; Episodic ataxia with myokymia.; Paroxysmal ataxia with neuromyotonia.; ",
"cross_references": "MeSH; D020386.",
"definition": "An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. ",
"keywords": null
},
{
"identifier": "Esophageal cancer.",
"acronym": "ESCR.",
"accession": "DI-01537",
"synonyms": "Aerodigestive tract cancer.; ESCC.; Esophageal squamous cell carcinoma.; Gastric cardia adenocarcinoma.; ",
"cross_references": "MeSH; D004938.",
"definition": "A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. ",
"keywords": null
},
{
"identifier": "Acrofacial dysostosis 1, Nager type.",
"acronym": "AFD1.",
"accession": "DI-03474",
"synonyms": "AFD Nager type.; Mandibulofacial dysostosis Treacher Collins type with limb anomalies.; Nager acrofacial dysostosis.; Nager syndrome.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. ",
"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
},
{
"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": "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": "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": "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 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 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 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 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 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 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 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 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 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": "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": "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": "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.; "
}
]
}