Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

De Sanctis-Cacchione syndrome
Synonyms

Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia
ID

http://purl.bioontology.org/ontology/MESH/C535992
altLabel

Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia

Xerodermic idiocy of de Sanctis and Cacchione

Desanctis-Cacchione Syndrome
cui

C0265201
HM

D014983

D007006

D004392

D008607
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D007006

http://purl.bioontology.org/ontology/MESH/D008607

http://purl.bioontology.org/ontology/MESH/D014983
MDA

20100825
MeSH Frequency

4
MMR

20131024
notation

C535992
prefLabel

De Sanctis-Cacchione syndrome
SC

3
TERMUI

T737904

T737902

T842783

T737903
TH

OMIM (2013)

GHR (2014)

ORD (2010)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/CSP/1849-9833 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/278800 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-00206 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X78D7 RCD CUI
http://purl.bioontology.org/ontology/OMIM/609413 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0010217 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010217 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0112158 DOID LOOM
rgo:23077 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0010217 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010217 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0010217 DOVES LOOM
http://identifiers.org/omim/278800 REXO LOOM
http://identifiers.org/omim/278800 GEXO LOOM
http://identifiers.org/omim/278800 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_278800 CCO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17789 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84666 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1721 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0112158 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0112158 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0112158 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/278800 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_1569 ORDO LOOM
http://purl.jp/bio/4/id/200906016046554680 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84666 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535992 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00206 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/X78D7 RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#De_Sanctis-Cacchione_Syndrome CSEO LOOM