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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2680&ordering=identifier",
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"results": [
{
"identifier": "Hemolytic disease of fetus and newborn, RH-induced.",
"acronym": "HDFNRH.",
"accession": "DI-06174",
"synonyms": "RH disease.; RH fetomaternal incompatibility.; ",
"cross_references": "MeSH; D004899.",
"definition": "A disease that occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group have been exposed to the RhD- positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells. ",
"keywords": null
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 1.",
"acronym": "AHUS1.",
"accession": "DI-01704",
"synonyms": "AHUS.; Atypical hemolytic uremic syndrome with H factor anomaly.; D(-)HUS.; Hemolytic-uremic syndrome.; Hemolytic-uremic syndrome without diarrhea.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 2.",
"acronym": "AHUS2.",
"accession": "DI-02597",
"synonyms": "Atypical hemolytic uremic with MCP or CD46 anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 3.",
"acronym": "AHUS3.",
"accession": "DI-02598",
"synonyms": "Atypical hemolytic uremic syndrome with I factor anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 4.",
"acronym": "AHUS4.",
"accession": "DI-02599",
"synonyms": "Atypical hemolytic uremic syndrome with B factor anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 5.",
"acronym": "AHUS5.",
"accession": "DI-02600",
"synonyms": "Atypical hemolytic uremic syndrome with C3 anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 6.",
"acronym": "AHUS6.",
"accession": "DI-02601",
"synonyms": "Atypical hemolytic uremic syndrome with thrombomodulin anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 7.",
"acronym": "AHUS7.",
"accession": "DI-03798",
"synonyms": null,
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature.",
"acronym": "AHUS8.",
"accession": "DI-06713",
"synonyms": null,
"cross_references": "MeSH; D065766.",
"definition": "An X-linked, atypical form of hemolytic uremic syndrome, characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end- stage renal disease. AHUS8 patients have short stature with short limbs, in addition to acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase, and schistocytes on peripheral blood smear. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Female carriers may be mildly affected. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 2.",
"acronym": "FHL2.",
"accession": "DI-01573",
"synonyms": "HLH2.; HPLH2.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 3.",
"acronym": "FHL3.",
"accession": "DI-01574",
"synonyms": "HLH3.; HPLH3.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 4.",
"acronym": "FHL4.",
"accession": "DI-01575",
"synonyms": "HLH4.; HPLH4.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease.",
"acronym": "FHL5.",
"accession": "DI-02796",
"synonyms": "HLH5.; HPLH5.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease. ",
"keywords": null
},
{
"identifier": "Hemophilia A.",
"acronym": "HEMA.",
"accession": "DI-01705",
"synonyms": "Classic hemophilia.; Factor 8 deficiency.; Factor VIII deficiency.; ",
"cross_references": "MeSH; D006467.",
"definition": "A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. ",
"keywords": "KW-0355:Hemophilia.; "
},
{
"identifier": "Hemophilia B.",
"acronym": "HEMB.",
"accession": "DI-02248",
"synonyms": "Christmas disease.; F9 deficiency.; Factor IX deficiency.; Plasma thromboplastin component deficiency.; Recessive X-linked hemophilia B.; ",
"cross_references": "MeSH; D002836.",
"definition": "An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. ",
"keywords": "KW-0355:Hemophilia.; "
},
{
"identifier": "Hemorrhagic destruction of the brain with subependymal calcification and cataracts.",
"acronym": "HDBSCC.",
"accession": "DI-03021",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. ",
"keywords": null
},
{
"identifier": "Hengel-Maroofian-Schols syndrome.",
"acronym": "HEMARS.",
"accession": "DI-06285",
"synonyms": "Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hennekam lymphangiectasia-lymphedema syndrome 1.",
"acronym": "HKLLS1.",
"accession": "DI-02804",
"synonyms": "Generalized lymphatic dysplasia.; Hennekam syndrome.; ",
"cross_references": "MeSH; D008209.",
"definition": "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hennekam lymphangiectasia-lymphedema syndrome 2.",
"acronym": "HKLLS2.",
"accession": "DI-04238",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hennekam lymphangiectasia-lymphedema syndrome 3.",
"acronym": "HKLLS3.",
"accession": "DI-05355",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
}
]
}