Human Disease Ontology

Last uploaded: June 28, 2024

Preferred Name	cerebrooculofacioskeletal syndrome 1
Synonyms
Definitions	A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
ID	http://purl.obolibrary.org/obo/DOID_0080911
database_cross_reference	MIM:214150
definition	A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
has_obo_namespace	disease_ontology
id	DOID:0080911
label	cerebrooculofacioskeletal syndrome 1
notation	DOID:0080911
prefLabel	cerebrooculofacioskeletal syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0080910

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080911	DDSS	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080911	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080911	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080911	FNS-H	SAME_URI
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.obolibrary.org/obo/NCIT_C173085	BERO	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