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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5440&ordering=synonyms",
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"results": [
{
"identifier": "Bleeding disorder, platelet-type, 25.",
"acronym": "BDPLT25.",
"accession": "DI-06751",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "An autosomal dominant disorder characterized by increased bleeding tendency due to decreased or dysfunctional platelets. Platelet morphologic and functional defects are variable. Some individuals have normal numbers of enlarged platelets. ",
"keywords": null
},
{
"identifier": "Hermansky-Pudlak syndrome 10.",
"acronym": "HPS10.",
"accession": "DI-04775",
"synonyms": null,
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 11.",
"acronym": "HPS11.",
"accession": "DI-06004",
"synonyms": null,
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Beck-Fahrner syndrome.",
"acronym": "BEFAHRS.",
"accession": "DI-05782",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Beaulieu-Boycott-Innes syndrome.",
"acronym": "BBIS.",
"accession": "DI-03901",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ",
"keywords": null
},
{
"identifier": "Basel-Vanagaite-Smirin-Yosef syndrome.",
"acronym": "BVSYS.",
"accession": "DI-04474",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 9, autosomal recessive.",
"acronym": "IBGC9.",
"accession": "DI-06885",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 8, autosomal recessive.",
"acronym": "IBGC8.",
"accession": "DI-05778",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 7, autosomal recessive.",
"acronym": "IBGC7.",
"accession": "DI-05477",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Birk-Landau-Perez syndrome.",
"acronym": "BILAPES.",
"accession": "DI-05046",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ",
"keywords": null
},
{
"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": "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": "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.; "
}
]
}