Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	brachydactyly
Synonyms	brachydactyly (disease) brachydactyly
Definitions	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.
ID	http://purl.obolibrary.org/obo/MONDO_0021004
database_cross_reference	MEDGEN:67454 icd11.foundation:598200019 DOID:0050581 MESH:D059327 UMLS:C0221357 HP:0001156
definition	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.
exactMatch	http://identifiers.org/medgen/67454 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/598200019 http://identifiers.org/mesh/D059327 http://purl.obolibrary.org/obo/DOID_0050581 http://linkedlifedata.com/resource/umls/id/C0221357
has_exact_synonym	brachydactyly (disease) brachydactyly
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6876
IAO_0000589	brachydactyly (disease)
id	MONDO:0021004
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#otar
label	brachydactyly
notation	MONDO:0021004
preferred label	brachydactyly
prefLabel	brachydactyly
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://www.ebi.ac.uk/efo/EFO_0002461 http://purl.obolibrary.org/obo/MONDO_0021147

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0021004	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021004	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021004	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021004	KTAO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050581	DOID	LOOM
http://purl.obolibrary.org/obo/HP_0001156	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0021004	MONDO	LOOM
http://purl.obolibrary.org/obo/HP_0001156	CCONT	LOOM
http://purl.obolibrary.org/obo/HP_0001156	HP	LOOM
http://purl.obolibrary.org/obo/HP_0001156	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0001156	KTAO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221357	OCHV	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-12232	SNMI	LOOM
http://purl.obolibrary.org/obo/MONDO_0021004	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0021004	DOVES	LOOM
http://id.nlm.nih.gov/mesh/D059327	MDM	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072883	MEDDRA	LOOM
http://purl.obolibrary.org/obo/OMIT_0027568	OMIT	LOOM
rgo:25628	GAMUTS	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000073	OMIM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085623	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.585.262	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1635	IFAR	LOOM
http://www.co-ode.org/ontologies/galen#Brachydactyly	GALEN	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1551	IFAR	LOOM
http://purl.org/obo/owl/HP#HP_0001156	BDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.585.262	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCD/X786x	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D059327	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MP_0002544	MP	LOOM
http://purl.obolibrary.org/obo/MP_0002544	UPHENO	LOOM
http://purl.obolibrary.org/obo/MP_0002544	CHIRO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/43476002	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MESH/D059327	MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20919	HRDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050581	FNS-H	LOOM