Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Gaucher Disease, Perinatal Lethal
Synonyms	Gaucher Disease, Collodion Type
ID	http://purl.bioontology.org/ontology/MESH/C564306
altLabel	Gaucher Disease, Collodion Type
cui	C1842704
HM	D005776
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D005776
MDA	20121105
MeSH Frequency	3
notation	C564306
prefLabel	Gaucher Disease, Perinatal Lethal
SC	3
Scope Statement	mutation in glucocerebrosidase
TERMUI	T804604 T804603
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/870313002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/870313002	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/608013	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/606463	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0011945	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_608013	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564306	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011945	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011945	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0011945	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/608013	OMIM	LOOM
http://identifiers.org/omim/608013	REXO	LOOM
http://identifiers.org/omim/608013	GEXO	LOOM
http://identifiers.org/omim/608013	RETO	LOOM