Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

DE SANCTIS-CACCHIONE SYNDROME
Synonyms
ID

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

C0265201
Gene Locus

10q11
Gene Symbol

POF11

ERCC6

CSB

ARMD5

UVSS1

COFS1

CKN2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU074723

http://purl.bioontology.org/ontology/OMIM/MTHU015558

http://purl.bioontology.org/ontology/OMIM/MTHU074721

http://purl.bioontology.org/ontology/OMIM/MTHU074725

http://purl.bioontology.org/ontology/OMIM/MTHU074722

http://purl.bioontology.org/ontology/OMIM/MTHU074726

http://purl.bioontology.org/ontology/OMIM/MTHU001761

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU020554

http://purl.bioontology.org/ontology/OMIM/MTHU074720

http://purl.bioontology.org/ontology/OMIM/MTHU001319

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU074724
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

278800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DE SANCTIS-CACCHIONE SYNDROME
Scope Statement

Based on report of 1 family [MISCELLANEOUS]

Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, 609413.0002) [MOLECULAR BASIS]
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/SNMI/D4-00206 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X78D7 RCD CUI
http://purl.bioontology.org/ontology/MESH/C535992 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0010217 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0112158 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010217 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0112158 DOID LOOM
rgo:23077 GAMUTS 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://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://www.gamuts.net/entity#De_Sanctis_Cacchione_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#De_Sanctis-Cacchione_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/MESH/C535992 MESH LOOM