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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5360&ordering=synonyms",
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"results": [
{
"identifier": "Bone marrow failure syndrome 6.",
"acronym": "BMFS6.",
"accession": "DI-05796",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer. ",
"keywords": null
},
{
"identifier": "Glutathione synthetase deficiency of erythrocytes.",
"acronym": "GLUSYNDE.",
"accession": "DI-01674",
"synonyms": null,
"cross_references": "MedGen; C1856399.",
"definition": "Mild form causing hemolytic anemia. ",
"keywords": null
},
{
"identifier": "Glycine encephalopathy 2.",
"acronym": "GCE2.",
"accession": "DI-06697",
"synonyms": null,
"cross_references": "MeSH; D020158.",
"definition": "A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development. ",
"keywords": null
},
{
"identifier": "Glycine encephalopathy with normal serum glycine.",
"acronym": "GCENSG.",
"accession": "DI-04929",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 5.",
"acronym": "BMFS5.",
"accession": "DI-05371",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 4.",
"acronym": "BMFS4.",
"accession": "DI-05333",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 3.",
"acronym": "BMFS3.",
"accession": "DI-04752",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 2.",
"acronym": "BMFS2.",
"accession": "DI-04043",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. ",
"keywords": null
},
{
"identifier": "Bone marrow failure and diabetes mellitus syndrome.",
"acronym": "BMFDMS.",
"accession": "DI-06507",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Blistering, acantholytic, of oral and laryngeal mucosa.",
"acronym": "ABOLM.",
"accession": "DI-06040",
"synonyms": null,
"cross_references": "MeSH; D009059.",
"definition": "An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. ",
"keywords": null
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 17.",
"acronym": "GPIBD17.",
"accession": "DI-05271",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. ",
"keywords": "KW-0887:Epilepsy.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 18.",
"acronym": "GPIBD18.",
"accession": "DI-05347",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Blepharophimosis-impaired intellectual development syndrome.",
"acronym": "BIS.",
"accession": "DI-06094",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "GNAS hyperfunction.",
"acronym": "GNASHYP.",
"accession": "DI-01678",
"synonyms": null,
"cross_references": "MedGen; C1841727.",
"definition": "This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and intellectual disability. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. ",
"keywords": null
},
{
"identifier": "Blepharocheilodontic syndrome 2.",
"acronym": "BCDS2.",
"accession": "DI-05104",
"synonyms": null,
"cross_references": "MeSH; D014071.",
"definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "GRACILE syndrome.",
"acronym": "GRACILE.",
"accession": "DI-01684",
"synonyms": null,
"cross_references": "MedGen; C1864002.",
"definition": "GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. ",
"keywords": null
},
{
"identifier": "Bleeding disorder, vascular-type.",
"acronym": "BDVAS.",
"accession": "DI-06847",
"synonyms": null,
"cross_references": "MeSH; D006474.",
"definition": "An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1Z.",
"acronym": "CMD1Z.",
"accession": "DI-00228",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 22.",
"acronym": "BDPLT22.",
"accession": "DI-05589",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia. ",
"keywords": null
},
{
"identifier": "Bleeding disorder, platelet-type, 21.",
"acronym": "BDPLT21.",
"accession": "DI-04984",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia. ",
"keywords": null
}
]
}