Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Cerebrooculofacioskeletal Syndrome 1
Synonyms
Definitions	An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
ID	http://purl.obolibrary.org/obo/NCIT_C173085
code	C173085
Contributing_Source	Cellosaurus
definition	An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
in_subset	http://purl.obolibrary.org/obo/NCIT_C165258
label	Cerebrooculofacioskeletal Syndrome 1
NCI_META_CUI	CL1406974
Preferred_Name	Cerebrooculofacioskeletal Syndrome 1
prefixIRI	NCIT:C173085
prefLabel	Cerebrooculofacioskeletal Syndrome 1
Semantic_Type	Disease or Syndrome
subClassOf	http://purl.obolibrary.org/obo/NCIT_C3817

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080911	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008955	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008955	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0080911	DDSS	LOOM
http://purl.bioontology.org/ontology/OMIM/214150	OMIM	LOOM
http://purl.bioontology.org/ontology/MESH/C562434	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562434	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173085	NCIT	LOOM
http://identifiers.org/omim/214150	REXO	LOOM
http://identifiers.org/omim/214150	GEXO	LOOM
http://identifiers.org/omim/214150	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0080911	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080911	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080911	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0008955	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_214150	CCO	LOOM