Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

DE SANCTIS-CACCHIONE SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/278800
cui

C0265201
Gene Locus

10q11
Gene Symbol

POF11

UVSS1

ARMD5

ERCC6

CKN2

COFS1

CSB
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

278800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DE SANCTIS-CACCHIONE SYNDROME
tui

T047
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http://purl.bioontology.org/ontology/MESH/C535992 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535992 Medical Subject Headings 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