Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

BEARE-STEVENSON CUTIS GYRATA SYNDROME

Synonyms

BSTVS

ID

http://purl.bioontology.org/ontology/OMIM/123790

altLabel

BSTVS

CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON

BEARE-STEVENSON SYNDROME

cui

C1852406

Gene Locus

10q26

Gene Symbol

TK14

FGFR2

BEK

BBDS

JWS

CFD1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU018776

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU018771

http://purl.bioontology.org/ontology/OMIM/MTHU018778

http://purl.bioontology.org/ontology/OMIM/MTHU041221

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU012780

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU014693

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU018769

http://purl.bioontology.org/ontology/OMIM/MTHU018767

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU018777

http://purl.bioontology.org/ontology/OMIM/MTHU041223

http://purl.bioontology.org/ontology/OMIM/MTHU003772

http://purl.bioontology.org/ontology/OMIM/MTHU003499

http://purl.bioontology.org/ontology/OMIM/MTHU018770

http://purl.bioontology.org/ontology/OMIM/MTHU030756

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU041222

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU013662

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU018768

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

123790

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

BEARE-STEVENSON CUTIS GYRATA SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565129 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123813 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_0050660 Human Disease Ontology 123 LOOM