National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Hemophilia A
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27146
code	C27146
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	CTRP NICHD
DEFINITION	An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.
Display_Name	Hemophilia A
FULL_SYN	Hereditary Factor VIII Deficiency Factor VIII Deficiency Hereditary Factor VIII Deficiency Disease
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093
label	Hemophilia A
Legacy_Concept_Name	Hemophilia_A
NICHD_Hierarchy_Term	Hemophilia A
Preferred_Name	Hemophilia A
prefixIRI	C27146
prefLabel	Hemophilia A
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0019069
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98942

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/306700	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/D006467	Medical Subject Headings	LOOM