Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Preferred Name

HEMOPHILIA A
Synonyms

HEMOPHILIA, CLASSIC

HEMA
ID

http://purl.bioontology.org/ontology/OMIM/306700
altLabel

HEMOPHILIA, CLASSIC

HEMA
cui

C0019069
Gene Locus

Xq28
Gene Symbol

THPH13

F8C

HEMA

F8
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007556

http://purl.bioontology.org/ontology/OMIM/MTHU007557

http://purl.bioontology.org/ontology/OMIM/MTHU007558

http://purl.bioontology.org/ontology/OMIM/MTHU006824

http://purl.bioontology.org/ontology/OMIM/MTHU007560

http://purl.bioontology.org/ontology/OMIM/MTHU007554

http://purl.bioontology.org/ontology/OMIM/MTHU007553

http://purl.bioontology.org/ontology/OMIM/MTHU007559

http://purl.bioontology.org/ontology/OMIM/MTHU007552

http://purl.bioontology.org/ontology/OMIM/MTHU007555
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

306700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HEMOPHILIA A
Scope Statement

Persistent bleeding after trauma [MISCELLANEOUS]

Caused by mutation in the coagulation factor VIII gene (F8, 300841.0001) [MOLECULAR BASIS]

Partial factor VIII deficiency in heterozygous carriers [MISCELLANEOUS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10060613 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001478 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10010468 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10010468 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10018938 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10060612 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/D66 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/D300. RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10060612 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10018938 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0438-6751 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0438-6751 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10018937 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/28293008 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD9CM/286.0 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10060612 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000671393 PDQ CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000671393 PDQ CUI
http://purl.bioontology.org/ontology/MDRGER/10060613 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10018937 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DC-63120 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10010468 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10060613 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D006467 MESH CUI
http://purl.bioontology.org/ontology/ICD10/D66 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/D66 ICD10 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/28293008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10018937 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X20ED RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10018938 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D006467 MSHFRE CUI
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/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://www.orpha.net/ORDO/Orphanet_98878 ORDO 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