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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1960&ordering=-synonyms",
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"results": [
{
"identifier": "Diamond-Blackfan anemia 11.",
"acronym": "DBA11.",
"accession": "DI-03608",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 12.",
"acronym": "DBA12.",
"accession": "DI-03972",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 13.",
"acronym": "DBA13.",
"accession": "DI-04161",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis.",
"acronym": "DBA14.",
"accession": "DI-04366",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"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": "Diamond-Blackfan anemia 16.",
"acronym": "DBA16.",
"accession": "DI-04958",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 17.",
"acronym": "DBA17.",
"accession": "DI-04959",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 18.",
"acronym": "DBA18.",
"accession": "DI-05472",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 19.",
"acronym": "DBA19.",
"accession": "DI-05473",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA19 inheritance is autosomal dominant. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 20.",
"acronym": "DBA20.",
"accession": "DI-05474",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA20 inheritance is autosomal dominant. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 21.",
"acronym": "DBA21.",
"accession": "DI-06526",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Char syndrome.",
"acronym": "CHAR.",
"accession": "DI-00294",
"synonyms": null,
"cross_references": "MeSH; D004374.",
"definition": "An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. ",
"keywords": null
},
{
"identifier": "Diamond-Blackfan anemia 3.",
"acronym": "DBA3.",
"accession": "DI-00393",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 4.",
"acronym": "DBA4.",
"accession": "DI-00394",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 5.",
"acronym": "DBA5.",
"accession": "DI-00395",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diarrhea 7, protein-losing enteropathy type.",
"acronym": "DIAR7.",
"accession": "DI-04130",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A life-threatening disease characterized by severe, intractable, watery diarrhea. ",
"keywords": null
},
{
"identifier": "Diamond-Blackfan anemia 7.",
"acronym": "DBA7.",
"accession": "DI-00397",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 8.",
"acronym": "DBA8.",
"accession": "DI-00398",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 9.",
"acronym": "DBA9.",
"accession": "DI-02684",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 10.",
"acronym": "MC4DN10.",
"accession": "DI-05932",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}