loading...| Preferred Name |
hemoglobin E disease |
|
| Synonyms |
hemoglobin E disease Hb-E disease |
|
| Definitions |
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016243 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10053215 UMLS:C0238159 NCIT:C35287 Orphanet:2133 icd11.foundation:1898135714 SCTID:25065001 DOID:5379 GARD:2641 ICD9:282.7 |
|
| definition |
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0238159 http://identifiers.org/snomedct/25065001 http://purl.obolibrary.org/obo/DOID_5379 |
|
| has_exact_synonym |
hemoglobin E disease Hb-E disease |
|
| id |
MONDO:0016243 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
hemoglobin E disease |
|
| notation |
MONDO:0016243 |
|
| prefLabel |
hemoglobin E disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease |
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| subClassOf |