Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/123790
http://purl.bioontology.org/ontology/OMIM/123790
Preferred Name

BEARE-STEVENSON CUTIS GYRATA SYNDROME
Synonyms
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
BEARE-STEVENSON SYNDROME
BSTVS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
BEARE-STEVENSON SYNDROME
BSTVS
prefLabel
BEARE-STEVENSON CUTIS GYRATA SYNDROME
Gene Symbol
TK14
JWS
BEK
CFD1
FGFR2
BBDS
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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]
type
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
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tui
T047
Gene Locus
10q26
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
123790
Semantic type UMLS property
Has inheritance type
cui
C1852406
OMIM Entry Type
3
OMIM MimType Value
pound
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