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Orphanet Rare Disease Ontology
| Preferred Name | Mild hemophilia A | |
| Synonyms |
Mild congenital F8 deficiency Mild congenital factor VIII deficiency |
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| Definitions |
A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_169808 |
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| alternative_term |
Mild congenital F8 deficiency Mild congenital factor VIII deficiency
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| definition |
A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169808 |
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| hasDbXref |
OMIM:306700 UMLS:C0272324 ICD-11:3B10.0 ICD-10:D66
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| label |
Mild hemophilia A
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| notation |
ORPHA:169808 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_169808
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| prefLabel |
Mild hemophilia A
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| subClassOf |
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