HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=920&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=880&ordering=synonyms",
"results": [
{
"identifier": "Immunodeficiency 79.",
"acronym": "IMD79.",
"accession": "DI-06061",
"synonyms": "CD4 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections. Laboratory studies show a complete absence of CD4+ T cells. ",
"keywords": null
},
{
"identifier": "Hemolytic anemia, CD59-mediated, with or without polyneuropathy.",
"acronym": "HACD59.",
"accession": "DI-01329",
"synonyms": "CD59 deficiency.; CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Immunodeficiency 116.",
"acronym": "IMD116.",
"accession": "DI-01560",
"synonyms": "CD8 deficiency, familial.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections. ",
"keywords": null
},
{
"identifier": "Anemia, congenital dyserythropoietic, 1B.",
"acronym": "CDAN1B.",
"accession": "DI-04032",
"synonyms": "CDA Ib.; Congenital dyserythropoietic anemia type Ib.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 1A.",
"acronym": "CDAN1A.",
"accession": "DI-01400",
"synonyms": "CDA I.; CDA Ia.; Congenital dyserythropoietic anemia type I.; Congenital dyserythropoietic anemia type Ia.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 2.",
"acronym": "CDAN2.",
"accession": "DI-02476",
"synonyms": "CDA II.; Congenital dyserythropoietic anemia type II.; Dyserythropoietic anemia HEMPAS type.; HEMPAS.; Hereditary erythroblastic multinuclearity with positive acidified-serum test.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 4.",
"acronym": "CDAN4.",
"accession": "DI-02966",
"synonyms": "CDA IV.; Congenital dyserythropoietic anemia type IV.; ",
"cross_references": "MeSH; D000742.",
"definition": "A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Corneal dystrophy, Reis-Bucklers type.",
"acronym": "CDRB.",
"accession": "DI-02252",
"synonyms": "CDB1.; Corneal dystrophy of Bowman layer type I.; Geographic corneal dystrophy.; Granular corneal dystrophy type III.; RBCD.; Reis-Bucklers corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Thiel-Behnke type.",
"acronym": "CDTB.",
"accession": "DI-01429",
"synonyms": "CDB2.; Corneal dystrophy of Bowman layer type II.; Honeycomb-shaped corneal dystrophy.; TBCD.; Thiel-Behnke corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1E.",
"acronym": "CMD1E.",
"accession": "DI-00214",
"synonyms": "CDCD2.; Dilated cardiomyopathy with conduction defect 2.; Dilated cardiomyopathy with conduction disorder and arrhythmia.; ",
"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": "Congenital disorder of deglycosylation 1.",
"acronym": "CDDG1.",
"accession": "DI-03774",
"synonyms": "CDDG.; CDG1V.; CDGIv.; CDG Iv.; CDG-Iv.; Congenital disorder of deglycosylation.; Congenital disorder of glycosylation 1V.; Congenital disorder of glycosylation type Iv.; ",
"cross_references": "MeSH; D002239.",
"definition": "An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. ",
"keywords": null
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy limb-girdle C15.",
"acronym": "MDDGC15.",
"accession": "DI-02496",
"synonyms": "CDG1O.; CDGIo.; CDG Io.; CDG-Io.; Congenital disorder of glycosylation 1O.; Congenital disorder of glycosylation type Io.; Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15.; ",
"cross_references": "MeSH; D018981.",
"definition": "An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O- mannosylation of alpha-dystroglycan. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 36.",
"acronym": "DEE36.",
"accession": "DI-03606",
"synonyms": "CDG1S.; CDGIs.; CDG Is.; CDG-Is.; Congenital disorder of glycosylation 1s.; Congenital disorder of glycosylation type Is.; EIEE36.; Epileptic encephalopathy, early infantile, 36.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some DEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. 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-0887:Epilepsy.; KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 50.",
"acronym": "DEE50.",
"accession": "DI-04479",
"synonyms": "CDG1Z.; Congenital disorder of glycosylation 1Z.; EIEE50.; Epileptic encephalopathy, early infantile, 50.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Immunodeficiency 47.",
"acronym": "IMD47.",
"accession": "DI-04743",
"synonyms": "CDG2S.; CDGIIs.; CDG IIs.; Congenital disorder of glycosylation, type IIs.; Congenital disorder of glycosylation 2S.; Immunodeficiency and hepatopathy with or without neurologic features.; ",
"cross_references": "MeSH; D007153.",
"definition": "A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Rafiq syndrome.",
"acronym": "RAFQS.",
"accession": "DI-03241",
"synonyms": "CDG2U.; MRT15.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital disorder of glycosylation 1F.",
"acronym": "CDG1F.",
"accession": "DI-00338",
"synonyms": "CDGIf.; CDG If.; CDG-If.; Congenital disorder of glycosylation type If.; ",
"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": "Congenital disorder of glycosylation 1G.",
"acronym": "CDG1G.",
"accession": "DI-00339",
"synonyms": "CDGIg.; CDG Ig.; CDG-Ig.; Congenital disorder of glycosylation type Ig.; ",
"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": "Congenital disorder of glycosylation 1H.",
"acronym": "CDG1H.",
"accession": "DI-00340",
"synonyms": "CDGIh.; CDG Ih.; CDG-Ih.; Congenital disorder of glycosylation type Ih.; ",
"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": "Congenital disorder of glycosylation 2BB.",
"acronym": "CDG2BB.",
"accession": "DI-06780",
"synonyms": "CDGIIBB.; CDG IIbb.; Congenital disorder of glycosylation, type IIbb.; ",
"cross_references": "MeSH; D018981.",
"definition": "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. CDG2BB is an autosomal recessive form characterized by global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
}
]
}