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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5400&ordering=synonyms",
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"results": [
{
"identifier": "Hematuria, benign familial, 2.",
"acronym": "BFH2.",
"accession": "DI-06644",
"synonyms": null,
"cross_references": "MeSH; D006417.",
"definition": "An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. ",
"keywords": null
},
{
"identifier": "Heme oxygenase 1 deficiency.",
"acronym": "HMOX1D.",
"accession": "DI-03193",
"synonyms": null,
"cross_references": "MeSH; D000743.",
"definition": "A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly. ",
"keywords": null
},
{
"identifier": "Hemifacial myohyperplasia.",
"acronym": "HFMH.",
"accession": "DI-06873",
"synonyms": null,
"cross_references": "MeSH; D005146.",
"definition": "A rare disease characterized by facial asymmetry due to unilateral muscular hypertrophy mimicking spasm and orofacial dystonia. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 10.",
"acronym": "MRD10.",
"accession": "DI-03253",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hemochromatosis 2B.",
"acronym": "HFE2B.",
"accession": "DI-01700",
"synonyms": null,
"cross_references": "MeSH; D006432.",
"definition": "A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Bile acid malabsorption, primary, 1.",
"acronym": "PBAM1.",
"accession": "DI-02198",
"synonyms": null,
"cross_references": "MeSH; D045602.",
"definition": "An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. ",
"keywords": null
},
{
"identifier": "Bile acid conjugation defect 1.",
"acronym": "BACD1.",
"accession": "DI-06059",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids. ",
"keywords": null
},
{
"identifier": "Hemolytic anemia due to adenylate kinase deficiency.",
"acronym": "HAAKD.",
"accession": "DI-01702",
"synonyms": null,
"cross_references": "MeSH; D000745.",
"definition": "A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency.",
"acronym": "HAGGSD.",
"accession": "DI-01703",
"synonyms": null,
"cross_references": "MeSH; D000743.",
"definition": "A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Hemolytic anemia due to glutathione reductase deficiency.",
"acronym": "HAGRD.",
"accession": "DI-05704",
"synonyms": null,
"cross_references": "MeSH; D000745.",
"definition": "An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Hemolytic anemia, congenital, X-linked.",
"acronym": "HACXL.",
"accession": "DI-05302",
"synonyms": null,
"cross_references": "MeSH; D000745.",
"definition": "An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency.",
"acronym": "HA-GPID.",
"accession": "DI-01729",
"synonyms": null,
"cross_references": "MeSH; D000746.",
"definition": "A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Bethlem myopathy 1C.",
"acronym": "BTHLM1C.",
"accession": "DI-06834",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Bethlem myopathy 1B.",
"acronym": "BTHLM1B.",
"accession": "DI-06833",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1Y.",
"acronym": "CMD1Y.",
"accession": "DI-00226",
"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": "Beta-ureidopropionase deficiency.",
"acronym": "UPB1D.",
"accession": "DI-01276",
"synonyms": null,
"cross_references": "MeSH; D011686.",
"definition": "An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. ",
"keywords": null
},
{
"identifier": "Bent bone dysplasia syndrome 2.",
"acronym": "BBDS2.",
"accession": "DI-06527",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. ",
"keywords": null
},
{
"identifier": "Bent bone dysplasia syndrome 1.",
"acronym": "BBDS1.",
"accession": "DI-03429",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. ",
"keywords": null
},
{
"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.; "
}
]
}