Preferred Name | hereditary persistence of fetal hemoglobin | |
Synonyms |
HPFH - Hereditary persistence of foetal haemoglobin HPFH - Hereditary persistence of fetal hemoglobin Hereditary persistence of fetal hemoglobin Hereditary Persistence of Foetal Haemoglobin HEMOGLOBIN F DIS Hb F disease Hereditary persistence of foetal haemoglobin Hereditary Persistence of Fetal Hemoglobin Hemoglobin F Disease Disease, Haemoglobin F Haemoglobin F Disease Disease, Hemoglobin F hereditary persistence of fetal hemoglobin |
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Definitions |
The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0020989 |
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database_cross_reference |
UMLS:C0019025 ICD9:282.7 MEDGEN:5495 NCIT:C129072 SCTID:191201002 |
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definition |
The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. |
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has_exact_synonym |
hereditary persistence of fetal hemoglobin |
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has_related_synonym |
HPFH - Hereditary persistence of foetal haemoglobin HPFH - Hereditary persistence of fetal hemoglobin Hereditary persistence of fetal hemoglobin Hereditary Persistence of Foetal Haemoglobin HEMOGLOBIN F DIS Hb F disease Hereditary persistence of foetal haemoglobin Hereditary Persistence of Fetal Hemoglobin Hemoglobin F Disease Disease, Haemoglobin F Haemoglobin F Disease Disease, Hemoglobin F |
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id |
MONDO:0020989 |
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
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label |
hereditary persistence of fetal hemoglobin |
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notation |
MONDO:0020989 |
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prefLabel |
hereditary persistence of fetal hemoglobin |
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skos_exactMatch |
http://identifiers.org/snomedct/191201002 http://identifiers.org/medgen/5495 |
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treeView | ||
subClassOf |