Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Cerebrooculofacioskeletal Syndrome 1
Synonyms	Pena-Shokeir Syndrome, Type II Cofs Syndrome
ID	http://purl.bioontology.org/ontology/MESH/C562434
altLabel	Pena-Shokeir Syndrome, Type II Cofs Syndrome
cui	C0220722
HM	D003057
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D003057
MDA	20121105
MeSH Frequency	12
notation	C562434
prefLabel	Cerebrooculofacioskeletal Syndrome 1
SC	3
TERMUI	T800688 T823575 T800690
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/214150	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/609413	OMIM	CUI
http://purl.obolibrary.org/obo/DOID_0080911	DDSS	LOOM
http://purl.obolibrary.org/obo/MONDO_0008955	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080911	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008955	EFO	LOOM
http://purl.obolibrary.org/obo/NCIT_C173085	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/214150	OMIM	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