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"count": 6723,
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"results": [
{
"identifier": "Helsmoortel-van der Aa syndrome.",
"acronym": "HVDAS.",
"accession": "DI-04149",
"synonyms": "MRD28.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Hemangioma, capillary infantile.",
"acronym": "HCI.",
"accession": "DI-02546",
"synonyms": "Hemangioma hereditary capillary.; ",
"cross_references": "MeSH; D018324.",
"definition": "A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. ",
"keywords": null
},
{
"identifier": "Hematuria, benign familial, 1.",
"acronym": "BFH1.",
"accession": "DI-01271",
"synonyms": "Thin basement membrane nephropathy.; Thin membrane nephropathy.; TMN.; ",
"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": "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": "Hemochromatosis 1.",
"acronym": "HFE1.",
"accession": "DI-01714",
"synonyms": "Hemochromatosis type 1.; Hereditary hemochromatosis.; HH.; HLAH.; Primary hereditary hemochromatosis.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 2A.",
"acronym": "HFE2A.",
"accession": "DI-01699",
"synonyms": "HEFE2.; Hemochromatosis type 2.; JH.; Juvenile hemochromatosis.; ",
"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": "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": "Hemochromatosis 3.",
"acronym": "HFE3.",
"accession": "DI-01715",
"synonyms": "Hemochromatosis due to defect in transferrin receptor 2.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 4.",
"acronym": "HFE4.",
"accession": "DI-01701",
"synonyms": "Hemochromatosis autosomal dominant.; Hemochromatosis due to defect in ferroportin.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 5.",
"acronym": "HFE5.",
"accession": "DI-03942",
"synonyms": "Autosomal dominant iron overload.; Hemochromatosis type 5.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemoglobin H disease.",
"acronym": "HBH.",
"accession": "DI-03202",
"synonyms": "Alpha-thalassemia hemoglobin H type.; Hemoglobin H disease deletional.; Hemoglobin H disease non-deletional.; ",
"cross_references": "MeSH; D017085.",
"definition": "A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. ",
"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": "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 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 elevated adenosine deaminase.",
"acronym": "HAEADA.",
"accession": "DI-06440",
"synonyms": "Hemolytic anemia due to elevated erythrocyte ADA.; Hemolytic anemia due to erythrocyte adenosine deaminase overproduction.; ",
"cross_references": "MeSH; D000745.",
"definition": "An X-linked disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased adenosine deaminase activity, specifically in erythrocyte precursors. ",
"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, 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.; "
}
]
}