Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	BEARE-STEVENSON CUTIS GYRATA SYNDROME
Synonyms	CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON BEARE-STEVENSON SYNDROME BSTVS
ID	http://purl.bioontology.org/ontology/OMIM/123790
altLabel	CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON BEARE-STEVENSON SYNDROME BSTVS
cui	C1852406
Gene Locus	10q26
Gene Symbol	TK14 JWS BEK CFD1 FGFR2 BBDS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU013662 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU014693 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU003499 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU018767 http://purl.bioontology.org/ontology/OMIM/MTHU018771 http://purl.bioontology.org/ontology/OMIM/MTHU018768 http://purl.bioontology.org/ontology/OMIM/MTHU001627 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU041222 http://purl.bioontology.org/ontology/OMIM/MTHU000559 http://purl.bioontology.org/ontology/OMIM/MTHU002092 http://purl.bioontology.org/ontology/OMIM/MTHU004139 http://purl.bioontology.org/ontology/OMIM/MTHU036653 http://purl.bioontology.org/ontology/OMIM/MTHU018769 http://purl.bioontology.org/ontology/OMIM/MTHU018770 http://purl.bioontology.org/ontology/OMIM/MTHU012780 http://purl.bioontology.org/ontology/OMIM/MTHU041223 http://purl.bioontology.org/ontology/OMIM/MTHU003772 http://purl.bioontology.org/ontology/OMIM/MTHU041221 http://purl.bioontology.org/ontology/OMIM/MTHU001173
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	123790
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	BEARE-STEVENSON CUTIS GYRATA SYNDROME
Scope Statement	Increased paternal age [MISCELLANEOUS] Reported cases all sporadic [MISCELLANEOUS] Early death in patients with cloverleaf skull [MISCELLANEOUS] Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0015) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/703528008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C565129	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/703528008	SCTSPA	CUI
http://purl.obolibrary.org/obo/DOID_0050660	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007412	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007412	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	DOID	LOOM
http://www.gamuts.net/entity#Beare_Stevenson_cutis_gyrata_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DERMO_0000624	DERMO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007412	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050660	FNS-H	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123813	NCIT	LOOM
http://identifiers.org/omim/123790	REXO	LOOM
http://identifiers.org/omim/123790	GEXO	LOOM
http://identifiers.org/omim/123790	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_123790	CCO	LOOM
http://purl.obolibrary.org/obo/NCIT_C123813	BERO	LOOM