Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	Brachydactyly
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU000073
cui	C0221357
Manifestation of	http://purl.bioontology.org/ontology/OMIM/600151 http://purl.bioontology.org/ontology/OMIM/186300 http://purl.bioontology.org/ontology/OMIM/614701 http://purl.bioontology.org/ontology/OMIM/617475 http://purl.bioontology.org/ontology/OMIM/618914 http://purl.bioontology.org/ontology/OMIM/618265 http://purl.bioontology.org/ontology/OMIM/610498 http://purl.bioontology.org/ontology/OMIM/610759 http://purl.bioontology.org/ontology/OMIM/616651 http://purl.bioontology.org/ontology/OMIM/608940 http://purl.bioontology.org/ontology/OMIM/611717 http://purl.bioontology.org/ontology/OMIM/616331 http://purl.bioontology.org/ontology/OMIM/617180 http://purl.bioontology.org/ontology/OMIM/252100 http://purl.bioontology.org/ontology/OMIM/165800 http://purl.bioontology.org/ontology/OMIM/263540 http://purl.bioontology.org/ontology/OMIM/309580 http://purl.bioontology.org/ontology/OMIM/601224 http://purl.bioontology.org/ontology/OMIM/275900 http://purl.bioontology.org/ontology/OMIM/156530 http://purl.bioontology.org/ontology/OMIM/136760 http://purl.bioontology.org/ontology/OMIM/620185 http://purl.bioontology.org/ontology/OMIM/132450 http://purl.bioontology.org/ontology/OMIM/613195 http://purl.bioontology.org/ontology/OMIM/261540 http://purl.bioontology.org/ontology/OMIM/608328 http://purl.bioontology.org/ontology/OMIM/245190 http://purl.bioontology.org/ontology/OMIM/163950 http://purl.bioontology.org/ontology/OMIM/617169 http://purl.bioontology.org/ontology/OMIM/617405 http://purl.bioontology.org/ontology/OMIM/100800 http://purl.bioontology.org/ontology/OMIM/604381 http://purl.bioontology.org/ontology/OMIM/268300 http://purl.bioontology.org/ontology/OMIM/103580 http://purl.bioontology.org/ontology/OMIM/618744 http://purl.bioontology.org/ontology/OMIM/618143 http://purl.bioontology.org/ontology/OMIM/300867 http://purl.bioontology.org/ontology/OMIM/614592 http://purl.bioontology.org/ontology/OMIM/143095 http://purl.bioontology.org/ontology/OMIM/618889 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http://purl.bioontology.org/ontology/OMIM/148820 http://purl.bioontology.org/ontology/OMIM/610017 http://purl.bioontology.org/ontology/OMIM/617284 http://purl.bioontology.org/ontology/OMIM/610023 http://purl.bioontology.org/ontology/OMIM/616894 http://purl.bioontology.org/ontology/OMIM/618162 http://purl.bioontology.org/ontology/OMIM/619959 http://purl.bioontology.org/ontology/OMIM/616354 http://purl.bioontology.org/ontology/OMIM/618435 http://purl.bioontology.org/ontology/OMIM/619184 http://purl.bioontology.org/ontology/OMIM/614813 http://purl.bioontology.org/ontology/OMIM/618392 http://purl.bioontology.org/ontology/OMIM/250410 http://purl.bioontology.org/ontology/OMIM/619033 http://purl.bioontology.org/ontology/OMIM/607095 http://purl.bioontology.org/ontology/OMIM/617062 http://purl.bioontology.org/ontology/OMIM/250420 http://purl.bioontology.org/ontology/OMIM/180700 http://purl.bioontology.org/ontology/OMIM/616589 http://purl.bioontology.org/ontology/OMIM/616007 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notation	MTHU000073
prefLabel	Brachydactyly
tui	T019
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000034 http://purl.bioontology.org/ontology/OMIM/MTHU000072 http://purl.bioontology.org/ontology/OMIM/MTHU000075 http://purl.bioontology.org/ontology/OMIM/MTHU000040

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000183386	NDFRT	CUI
http://purl.bioontology.org/ontology/SNMI/D4-12232	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10072883	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/43476002	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10072883	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D059327	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X786x	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10072883	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43476002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D059327	MESH	CUI
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	EFO	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	EFO	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://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