Mondo Disease Ontology

Last uploaded: January 7, 2025
Preferred Name

hemophilia A
Synonyms

Haemophilia A

hemophilia A, congenital

autosomal hemophilia a

autosomal haemophilia a

classic hemophilia

factor 8 deficiency

classical haemophilia

hem A

classic haemophilia

haemophilia A, congenital

hemophilia, classic

HEMA

classical hemophilia

hemophilia a, X-linked recessive

hereditary Factor VIII deficiency disease

haemophilia type A

factor VIII deficiency

congenital factor VIII disorder

hemophilia type A

hemophilia A

hemophilia type a

hereditary Factor VIII deficiency

haemophilia a, X-linked recessive

Subhemophilia

haemophilia type a

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

icd11.foundation:337607970

DOID:12134

NORD:1221

NANDO:2200676

ICD9:286.0

Orphanet:98878

MedDRA:10016080

SCTID:234440005

MEDGEN:5501

GARD:6591

OMIM:134500

NCIT:C27146

MESH:D006467

OMIM:306700

UMLS:C0019069

definition

The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

has_exact_synonym

hemophilia a, X-linked recessive

hereditary Factor VIII deficiency disease

haemophilia type A

factor VIII deficiency

congenital factor VIII disorder

hemophilia type A

hemophilia A

hemophilia type a

hereditary Factor VIII deficiency

haemophilia a, X-linked recessive

Subhemophilia

haemophilia type a

has_related_synonym

Haemophilia A

hemophilia A, congenital

autosomal hemophilia a

autosomal haemophilia a

classic hemophilia

factor 8 deficiency

classical haemophilia

hem A

classic haemophilia

haemophilia A, congenital

hemophilia, classic

HEMA

classical hemophilia

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0010602

in_subset

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

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

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

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

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

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

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

label

hemophilia A

notation

MONDO:0010602

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

treeView

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

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 CCONT 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/OMIM/306700 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D006467 MESH LOOM
http://purl.bioontology.org/ontology/CSP/0438-6751 CRISP LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000671393 PDQ 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 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
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Notes

Filter:
Add NCBO Web Widgets to your site for MONDO
Widget type Widget demonstration
Jump To

Type a class name from MONDO and jump to it in BioPortal

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Form Autocomplete

Fill your form fields with classes from MONDO

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Example 1 (start typing the class name to get its full URI)

Example 2 (get the ID for a class)

Example 3 (get the preferred name for a class)
Visualization

Display a visualization for a given class in MONDO

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Tree Widget

Display a class tree with a search field for MONDO

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