Mondo Disease Ontology

Last uploaded: January 7, 2025
Preferred Name

severe hemophilia A
Synonyms

severe factor VIII deficiency

severe haemophilia type A

severe hemophilia type A

Definitions

Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

ID

http://purl.obolibrary.org/obo/MONDO_0015719

database_cross_reference

GARD:17059

MEDGEN:543973

UMLS:C0272322

SCTID:16872008

Orphanet:169802

definition

Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

has_exact_synonym

severe factor VIII deficiency

severe haemophilia type A

severe hemophilia type A

id

MONDO:0015719

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

severe hemophilia A

notation

MONDO:0015719

prefLabel

severe hemophilia A

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0272322

http://identifiers.org/snomedct/16872008

http://purl.obolibrary.org/obo/Orphanet_169802

http://identifiers.org/medgen/543973

treeView

http://purl.obolibrary.org/obo/MONDO_0010602

subClassOf

http://purl.obolibrary.org/obo/MONDO_0010602

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