loading...| Preferred Name |
Hemoglobin E Disease |
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| Synonyms |
Hb E-Disease Haemoglobin E Disease |
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| Definitions |
An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations. with a generally benign, asymptomatic presentation. |
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| ID |
http://purl.obolibrary.org/obo/SCDO_0000530 |
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| database cross reference |
ORPHA:2133 |
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| definition |
An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations. with a generally benign, asymptomatic presentation. |
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| definition source |
http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-E |
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| diagnosed using tool |
http://purl.obolibrary.org/obo/NCIT_C79903 |
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| existence in other ontologies |
Sufficient |
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| has manifestation | ||
| has mode of inheritance | ||
| hasExactSynonym |
Hb E-Disease Haemoglobin E Disease |
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| prefixIRI |
SCDO:0000530 |
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| prefLabel |
Hemoglobin E Disease |
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| previous identifier |
SCDO:0000530 |
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| rdfs:label |
Hemoglobin E Disease |
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| treated with |
http://purl.obolibrary.org/obo/SCDO_0000580 |
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| subClassOf |