Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	De Sanctis-Cacchione syndrome
Synonyms	Xerodermic idiocy of de Sanctis and Cacchione
ID	http://purl.bioontology.org/ontology/MESH/C535992
altLabel	Xerodermic idiocy of de Sanctis and Cacchione Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia Desanctis-Cacchione Syndrome
cui	C0265201
HM	D004392 D008607 D007006 D014983
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D014983 http://purl.bioontology.org/ontology/MESH/D007006 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D004392
MDA	20100825
MeSH Frequency	4
MMR	20131024
notation	C535992
prefLabel	De Sanctis-Cacchione syndrome
SC	3
TERMUI	T737903 T842783 T737902 T737904
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/609413	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/278800	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/278800	Online Mendelian Inheritance in Man	LOOM
http://purl.obolibrary.org/obo/DOID_0112158	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84666	National Cancer Institute Thesaurus	LOOM