PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Hemophilia A
Synonyms
Definitions

An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036578

Database_Cross_Reference

MDR:10010468

MTH:NOCODE

CHV:0000006005

CSP:0438-6751

MSH:D006467

RCDAE:D300.

RCD:X20ED

ICD10CM:D66

MTHICD9:286.0

MDR:10018937

NDFRT:N0000001478

NCI_NICHD:C27146

NCI:C27146

CCPSS:0032174

SNOMEDCT_US:28293008

DXP:U000623

SNM:D-4428

DO:DOID:12134

ICD9CM:286.0

MDR:10018938

SNMI:DC-63120

RCD:D300.

MDR:10060612

OMIM:300841

MDR:10060613

MEDCIN:30315

DXP:NOCODE

OMIM:306700

Definition

An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

label

Hemophilia A

MCID

MC00006091

PMOID

PMO:00036578

prefixIRI

pmo:PMO_00036578

prefLabel

Hemophilia A

Synonym

Haemophilia A

Hemophilia A, NOS

factor VIII deficiency (hemophilia)

Hemophilia A, Congenital

ANTIHEMOPHILIC FACTOR A DEFICIENCY

ANTIHEMOPHILIC GLOBULIN DEFICIENCY

hemophilia a

factor viii hemophilia

Cong factor VIII deficiency

Functional factor VIII deficiency

Haemophilia

Congenital Hemophilia As

Hemophilia

Factor VIII deficiency

AHG deficiency

FACTOR VIII DISORDER CONGENITAL

Classic Hemophilias

Hemophilia A (Factor VIII)

Hemophilia NOS

FACTOR VIII DEFICIENCY

Congenital factor VIII deficiency disease

Sex-linked factor VIII deficiency disease

factor VIII deficiency

Hemophilias, Classic

Hemophilia A (disorder)

Antihemophilic globulin deficiency

Classic Hemophilia

Classical hemophilia

AHG DEFICIENCY

hemophilia A

AHG deficiency disease

Hemophilia, Classic

Congenital factor VIII deficiency

HEMA

Hemophilia, familial

hemophilia A (diagnosis)

Sex-linked factor VIII deficiency

Hereditary factor VIII deficiency disease

haemophilia a

Congenital factor VIII disorder

Hemophilia A [Disease/Finding]

Cong factor viii diord

Congenital Hemophilia A

Factor VIII Deficiency

Hemophilia, hereditary

Hemophilia As, Congenital

Hemophilia, classical

Classical haemophilia

HEMOPHILIA, CLASSIC

Hemophilia As

Haemophilia A, NOS

Hereditary Factor VIII Deficiency

Subhemophilia

Hereditary Factor VIII Deficiency Disease

congenital factor viii disorder

Hereditary factor VIII deficiency disease (disorder)

HEMOPHILIA A

Haemophilia A (Factor VIII)

Tree Number

T9.5.2.12.17

T9.8.4.5.17

T9.5.2.14.4.10

T9.5.2.14.9.17

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036573

http://www.phoc.org.cn/pmo/class/PMO_00037335

http://www.phoc.org.cn/pmo/class/PMO_00037369

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Mapping To Ontology Source
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://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 CCONT 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