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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=140",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=100",
"results": [
{
"identifier": "Advanced sleep phase syndrome, familial, 2.",
"acronym": "FASPS2.",
"accession": "DI-03718",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "Advanced sleep phase syndrome, familial, 3.",
"acronym": "FASPS3.",
"accession": "DI-04696",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "Advanced sleep phase syndrome, familial, 4.",
"acronym": "FASPS4.",
"accession": "DI-06481",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"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 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 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 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 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 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 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 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": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.",
"acronym": "ACOGS.",
"accession": "DI-05864",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Agenesis of the corpus callosum, with abnormal genitalia.",
"acronym": "ACCAG.",
"accession": "DI-01175",
"synonyms": "ACC with abnormal genitalia.; Corpus callosum, agenesis of, with abnormal genitalia.; Micrencephaly-corpus callosum agenesis-abnormal genitalia.; Proud-Levine-Carpenter syndrome.; Proud syndrome.; ",
"cross_references": "MeSH; D009421.",
"definition": "An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. ",
"keywords": null
},
{
"identifier": "Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia.",
"acronym": "CCAFCA.",
"accession": "DI-04654",
"synonyms": "Birk-Flusser syndrome.; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.; ",
"cross_references": "MeSH; D061085.",
"definition": "An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Agenesis of the corpus callosum, with peripheral neuropathy.",
"acronym": "ACCPN.",
"accession": "DI-00054",
"synonyms": "Andermann's syndrome.; Andermann syndrome.; Charlevoix disease.; Corpus callosum, agenesis of, with neuronopathy.; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum.; ",
"cross_references": "MeSH; D009421.",
"definition": "A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Agenesis of the corpus callosum, X-linked, partial.",
"acronym": "ACCPX.",
"accession": "DI-02143",
"synonyms": null,
"cross_references": "MeSH; D055673.",
"definition": "A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. ",
"keywords": null
},
{
"identifier": "Agnathia-otocephaly complex.",
"acronym": "AGOTC.",
"accession": "DI-03217",
"synonyms": "Dysgnathia complex agnathia-holoprosencephaly.; Holoprosencephaly-agnathia.; Otocephaly.; ",
"cross_references": "MeSH; D016142.",
"definition": "A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. ",
"keywords": null
}
]
}