Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Eiken Skeletal Dysplasia
Synonyms	Bone Modeling Defect of Hands and Feet
ID	http://purl.bioontology.org/ontology/MESH/C564010
altLabel	Bone Modeling Defect of Hands and Feet
cui	C1838779
HM	D010009 D006228 D005532
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D005532 http://purl.bioontology.org/ontology/MESH/D010009 http://purl.bioontology.org/ontology/MESH/D006228
MDA	20121105
MeSH Frequency	2
notation	C564010
prefLabel	Eiken Skeletal Dysplasia
SC	3
Scope Statement	mutation in PTHR1
TERMUI	T828256 T804066
TH	OMIM (2013)
tui	T047 T019

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/720863002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/720863002	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/600002	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/168468	OMIM	CUI
http://purl.obolibrary.org/obo/OMIM_600002	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564010	RH-MESH	LOOM
http://identifiers.org/omim/600002	REXO	LOOM
http://identifiers.org/omim/600002	GEXO	LOOM
http://identifiers.org/omim/600002	RETO	LOOM