Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	Epiphyseal dysplasia
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU011178
cui	C0392476
Manifestation of	http://purl.bioontology.org/ontology/OMIM/620022 http://purl.bioontology.org/ontology/OMIM/184840 http://purl.bioontology.org/ontology/OMIM/156530 http://purl.bioontology.org/ontology/OMIM/132450 http://purl.bioontology.org/ontology/OMIM/248010 http://purl.bioontology.org/ontology/OMIM/618618 http://purl.bioontology.org/ontology/OMIM/614732 http://purl.bioontology.org/ontology/OMIM/611962 http://purl.bioontology.org/ontology/OMIM/617425 http://purl.bioontology.org/ontology/OMIM/215150 http://purl.bioontology.org/ontology/OMIM/618870 http://purl.bioontology.org/ontology/OMIM/614134 http://purl.bioontology.org/ontology/OMIM/614727 http://purl.bioontology.org/ontology/OMIM/253200
notation	MTHU011178
prefLabel	Epiphyseal dysplasia
tui	T019
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000029 http://purl.bioontology.org/ontology/OMIM/MTHU000040

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/D4-00A60	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X78AQ	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/254080004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254080004	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/HP_0002656	OBA	LOOM
rgo:21377	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCD/X78AQ	RCD	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0392476	OCHV	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013958	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/HP_0002656	HP	LOOM
http://purl.obolibrary.org/obo/HP_0002656	UPHENO	LOOM
http://purl.org/obo/owl/HP#HP_0002656	BDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254080004	SNOMEDCT	LOOM