Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	hemophilia A
Synonyms	haemophilia A, congenital autosomal hemophilia a hemophilia A, congenital classical hemophilia factor 8 deficiency Haemophilia A hemophilia, classic classic haemophilia classic hemophilia classical haemophilia autosomal haemophilia a HEMA hem A haemophilia a, X-linked recessive Subhemophilia hemophilia A congenital factor VIII disorder hemophilia type a hemophilia type A factor VIII deficiency hemophilia a, X-linked recessive hereditary Factor VIII deficiency haemophilia type A haemophilia type a hereditary Factor VIII deficiency disease
Definitions	The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
ID	http://purl.obolibrary.org/obo/MONDO_0010602
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0010602
database_cross_reference	MEDGEN:5501 OMIM:306700 SCTID:234440005 icd11.foundation:337607970 OMIM:134500 MESH:D006467 NANDO:2200676 MedDRA:10016080 NCIT:C27146 Orphanet:98878 UMLS:C0019069 DOID:12134 GARD:6591 ICD9:286.0 NORD:1221
definition	The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
disease arises from feature	http://purl.obolibrary.org/obo/HP_0003125
disease disrupts	http://purl.obolibrary.org/obo/GO_0003810
has_exact_synonym	haemophilia a, X-linked recessive Subhemophilia hemophilia A congenital factor VIII disorder hemophilia type a hemophilia type A factor VIII deficiency hemophilia a, X-linked recessive hereditary Factor VIII deficiency haemophilia type A haemophilia type a hereditary Factor VIII deficiency disease
has_related_synonym	haemophilia A, congenital autosomal hemophilia a hemophilia A, congenital classical hemophilia factor 8 deficiency Haemophilia A hemophilia, classic classic haemophilia classic hemophilia classical haemophilia autosomal haemophilia a HEMA hem A
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0010602
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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_disorder
label	hemophilia A
notation	MONDO:0010602
preferred label	hemophilia A
prefLabel	hemophilia A
skos_closeMatch	http://identifiers.org/meddra/10016080
skos_exactMatch	https://omim.org/entry/306700 http://linkedlifedata.com/resource/umls/id/C0019069 http://identifiers.org/snomedct/234440005 http://purl.obolibrary.org/obo/DOID_12134 http://purl.obolibrary.org/obo/Orphanet_98878 http://purl.obolibrary.org/obo/NCIT_C27146 https://omim.org/entry/134500 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/337607970 http://identifiers.org/medgen/5501 http://identifiers.org/mesh/D006467
subClassOf	http://purl.obolibrary.org/obo/MONDO_0002243 http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0018660 http://purl.obolibrary.org/obo/MONDO_0021181

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0010602	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010602	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010602	EFO	SAME_URI
http://purl.bioontology.org/ontology/CSP/0438-6751	CRISP	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000671393	PDQ	LOOM
http://purl.obolibrary.org/obo/MONDO_0010602	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_306700	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.500	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036578	PMAPP-PMO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200676	NANDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27146	NCIT	LOOM
http://purl.bioontology.org/ontology/CSP/0438-6751	CRISP	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6005	OCHV	LOOM
http://purl.jp/bio/4/id/200906070937309648	IOBC	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13895	HRDO	LOOM
http://localhost/plosthes.2017-1#8560	PLOSTHES	LOOM
http://purl.bioontology.org/ontology/OMIM/306700	OMIM	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10060612	MEDDRA	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000671393	PDQ	LOOM
http://purl.obolibrary.org/obo/NCIT_C27146	BERO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019069	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_98878	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010602	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010602	EFO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12134	NATPRO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemophilia_A	CSEO	LOOM
http://purl.bioontology.org/ontology/MESH/D006467	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0007636	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006467	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.500	RH-MESH	LOOM
http://identifiers.org/omim/306700	REXO	LOOM
http://identifiers.org/omim/306700	GEXO	LOOM
http://identifiers.org/omim/306700	RETO	LOOM