Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
Preferred Name

Hemophilia A
Synonyms

Congenital Factor VIII deficiency

Congenital FVIII deficiency

Congenital F8 deficiency

Definitions

A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

ID

http://www.orpha.net/ORDO/Orphanet_98878

alternative_term

Congenital Factor VIII deficiency

Congenital FVIII deficiency

Congenital F8 deficiency

definition

A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98878

has_age_of_onset

Childhood

Infancy

Neonatal

has_inheritance

X-linked recessive

hasDbXref

OMIM:306700

MeSH:D006467

MedDRA:10010468

ICD-11:3B10.0

UMLS:C0019069

ICD-10:D66

label

Hemophilia A

notation

ORPHA:98878

part_of

http://www.orpha.net/ORDO/Orphanet_448

prefixIRI

ORDO:Orphanet_98878

prefLabel

Hemophilia A

present_in

Palestinian Territory, occupied AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000

Zimbabwe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000

Latvia AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

New Zealand AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000

Australia AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000

Chile AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000

Ireland AND has_point_prevalence_average_value : 9.2 AND has_point_prevalence_range : 1-9 / 100 000

Saudi Arabia AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

India AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000

Jamaica AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000

Lithuania AND has_point_prevalence_average_value : 4.1 AND has_point_prevalence_range : 1-9 / 100 000

Philippines AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000

Poland AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000

South Africa AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000

Serbia AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000

Uruguay AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

Sweden AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000

Canada AND has_point_prevalence_average_value : 7.3 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_birth_prevalence_average_value : 11.25 AND has_birth_prevalence_range : 1-5 / 10 000

Venezuela AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

Korea, Republic of AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000

Malta AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

Tunisia AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000

Lesotho AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000

Albania AND has_point_prevalence_average_value : 7.6 AND has_point_prevalence_range : 1-9 / 100 000

Qatar AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000

Nicaragua AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000

Guatemala AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

Italy AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000

Kenya AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000

Togo AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000

Egypt AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000

Morocco AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000

Japan AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

Peru AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000

Thailand AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000

Singapore AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000

Argentina AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000

Sudan AND has_point_prevalence_average_value : 0.85 AND has_point_prevalence_range : 1-9 / 1 000 000

China AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000

Croatia AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000

Mongolia AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000

Jordan AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000

Bosnia and Herzegovina AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000

Austria AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000

Switzerland AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000

Georgia AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_average_value : 4.85 AND has_point_prevalence_range : 1-9 / 100 000

Eritrea AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000

Portugal AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

Uzbekistan AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000

Czech Republic AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000

Iran, Islamic Republic of AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000

Nepal AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000

Belgium AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000

Germany AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000

Dominican Republic AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000

Lebanon AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000

Nigeria AND has_point_prevalence_average_value : 0.025 AND has_point_prevalence_range : <1 / 1 000 000

Africa AND has_point_prevalence_average_value : 1.58 AND has_point_prevalence_range : 1-9 / 100 000

Russian Federation AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

Belize AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000

Luxembourg AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000

Algeria AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000

Colombia AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000

Paraguay AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000

Viet Nam AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

Belarus AND has_point_prevalence_average_value : 5.1 AND has_point_prevalence_range : 1-9 / 100 000

Ecuador AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000

Slovakia AND has_point_prevalence_average_value : 8.6 AND has_point_prevalence_range : 1-9 / 100 000

Malaysia AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

Netherlands AND has_point_prevalence_average_value : 9.3 AND has_point_prevalence_range : 1-9 / 100 000

Panama AND has_point_prevalence_average_value : 6.6 AND has_point_prevalence_range : 1-9 / 100 000

Senegal AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000

Finland AND has_point_prevalence_average_value : 4.6 AND has_point_prevalence_range : 1-9 / 100 000

France AND has_point_prevalence_average_value : 10.5 AND has_point_prevalence_range : 1-5 / 10 000

Bolivia AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000

United Kingdom AND has_point_prevalence_average_value : 10.4 AND has_point_prevalence_range : 1-5 / 10 000

Azerbaijan AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000

Romania AND has_point_prevalence_average_value : 6.4 AND has_point_prevalence_range : 1-9 / 100 000

Slovenia AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000

El Salvador AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000

Mexico AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000

Greece AND has_point_prevalence_average_value : 6.5 AND has_point_prevalence_range : 1-9 / 100 000

Sri Lanka AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000

Iceland AND has_point_prevalence_average_value : 19.3 AND has_point_prevalence_range : 1-5 / 10 000

Bangladesh AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000

Brazil AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000

Turkey AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000

Israel AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000

Bulgaria AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000

Honduras AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000

Hungary AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000

Sierra leone AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000

Indonesia AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000

Armenia AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000

Costa rica AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000

Ukraine AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000

North Macedonia AND has_point_prevalence_average_value : 8.1 AND has_point_prevalence_range : 1-9 / 100 000

Estonia AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000

Cyprus AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000

Moldova, Republic of AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000

Cuba AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000

Pakistan AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000

Iraq AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_448

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_98878 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_98878 EFO SAME_URI
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://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.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://purl.obolibrary.org/obo/MONDO_0010602 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 DOVES 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