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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2740&ordering=-synonyms",
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"results": [
{
"identifier": "Brugada syndrome 1.",
"acronym": "BRGDA1.",
"accession": "DI-00202",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Hypomagnesemia, seizures, and impaired intellectual development 2.",
"acronym": "HOMGSMR2.",
"accession": "DI-05475",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; KW-0982:Primary hypomagnesemia.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 10 with or without anosmia.",
"acronym": "HH10.",
"accession": "DI-03570",
"synonyms": null,
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Hypochondroplasia.",
"acronym": "HCH.",
"accession": "DI-01786",
"synonyms": null,
"cross_references": "MedGen; C0410529.",
"definition": "Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 73.",
"acronym": "MRT73.",
"accession": "DI-06320",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Heterotaxy, visceral, 10, autosomal, with male infertility.",
"acronym": "HTX10.",
"accession": "DI-06266",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 11, autosomal, with male infertility.",
"acronym": "HTX11.",
"accession": "DI-06267",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 12, autosomal.",
"acronym": "HTX12.",
"accession": "DI-06243",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. Early death may occur. HTX12 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 2, autosomal.",
"acronym": "HTX2.",
"accession": "DI-02413",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Microcephaly and chorioretinopathy, autosomal recessive, 3.",
"acronym": "MCCRP3.",
"accession": "DI-04411",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. ",
"keywords": null
},
{
"identifier": "Brain small vessel disease 3.",
"acronym": "BSVD3.",
"accession": "DI-05511",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ",
"keywords": null
},
{
"identifier": "Heterotaxy, visceral, 6, autosomal.",
"acronym": "HTX6.",
"accession": "DI-03502",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 7, autosomal.",
"acronym": "HTX7.",
"accession": "DI-04636",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 8, autosomal.",
"acronym": "HTX8.",
"accession": "DI-04866",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Heterotaxy, visceral, 9, autosomal, with male infertility.",
"acronym": "HTX9.",
"accession": "DI-05875",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Hexokinase deficiency.",
"acronym": "HK deficiency.",
"accession": "DI-01739",
"synonyms": null,
"cross_references": "MedGen; C3150343.",
"definition": "Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. ",
"keywords": null
},
{
"identifier": "Congenital disorder of glycosylation 1W, autosomal recessive.",
"acronym": "CDG1WAR.",
"accession": "DI-04006",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Hiatt-Neu-Cooper neurodevelopmental syndrome.",
"acronym": "HINCONS.",
"accession": "DI-06098",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.",
"acronym": "BCAHH.",
"accession": "DI-06584",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Seckel syndrome 8.",
"acronym": "SCKL8.",
"accession": "DI-04089",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
}
]
}