Online Mendelian Inheritance in Man

Last uploaded: April 29, 2019
Preferred Name

FIBROBLAST GROWTH FACTOR RECEPTOR 2

Synonyms

ENDOMETRIAL CANCER, SOMATIC

ID

http://purl.bioontology.org/ontology/OMIM/176943

altLabel

ENDOMETRIAL CANCER, SOMATIC

GASTRIC CANCER, SOMATIC

CROUZON SYNDROME

PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14

TK14

CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT

VARIANT OF UNKNOWN SIGNIFICANCE

APERT SYNDROME

BEK, MOUSE, HOMOLOG OF

CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL

SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY

PFEIFFER SYNDROME, TYPE III

KGFR

FGFR2

JACKSON-WEISS SYNDROME

FIBROBLAST GROWTH FACTOR RECEPTOR BEK

BEARE-STEVENSON CUTIS GYRATA SYNDROME

PFEIFFER SYNDROME

PFEIFFER SYNDROME VARIANT

SAETHRE-CHOTZEN SYNDROME

BENT BONE DYSPLASIA SYNDROME

KERATINOCYTE GROWTH FACTOR RECEPTOR

FGF RECEPTOR

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS

LADD SYNDROME

SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

cui

C1860985

C0001193

C0265269

C2674314

C1852406

C1867564

C4016346

C0209706

C1333542

C0795998

C0220658

C2936791

C1865070

C3281247

C2931196

C0175699

C2986382

C4016344

C1867563

C4016345

Gene Locus

10q26

Gene Symbol

TK14

FGFR2

BEK

BBDS

JWS

CFD1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/176943.0020

http://purl.bioontology.org/ontology/OMIM/176943.0040

http://purl.bioontology.org/ontology/OMIM/176943.0025

http://purl.bioontology.org/ontology/OMIM/176943.0041

http://purl.bioontology.org/ontology/OMIM/176943.0021

http://purl.bioontology.org/ontology/OMIM/176943.0001

http://purl.bioontology.org/ontology/OMIM/176943.0033

http://purl.bioontology.org/ontology/OMIM/176943.0034

http://purl.bioontology.org/ontology/OMIM/176943.0013

http://purl.bioontology.org/ontology/OMIM/176943.0032

http://purl.bioontology.org/ontology/OMIM/176943.0012

http://purl.bioontology.org/ontology/OMIM/176943.0014

http://purl.bioontology.org/ontology/OMIM/176943.0006

http://purl.bioontology.org/ontology/OMIM/176943.0027

http://purl.bioontology.org/ontology/OMIM/176943.0007

http://purl.bioontology.org/ontology/OMIM/176943.0039

http://purl.bioontology.org/ontology/OMIM/176943.0019

http://purl.bioontology.org/ontology/OMIM/176943.0038

http://purl.bioontology.org/ontology/OMIM/176943.0008

http://purl.bioontology.org/ontology/OMIM/176943.0030

http://purl.bioontology.org/ontology/OMIM/176943.0011

http://purl.bioontology.org/ontology/OMIM/176943.0010

http://purl.bioontology.org/ontology/OMIM/176943.0044

http://purl.bioontology.org/ontology/OMIM/176943.0042

http://purl.bioontology.org/ontology/OMIM/176943.0024

http://purl.bioontology.org/ontology/OMIM/176943.0022

http://purl.bioontology.org/ontology/OMIM/176943.0004

http://purl.bioontology.org/ontology/OMIM/176943.0002

http://purl.bioontology.org/ontology/OMIM/176943.0003

http://purl.bioontology.org/ontology/OMIM/176943.0005

http://purl.bioontology.org/ontology/OMIM/176943.0035

http://purl.bioontology.org/ontology/OMIM/176943.0015

http://purl.bioontology.org/ontology/OMIM/176943.0031

http://purl.bioontology.org/ontology/OMIM/176943.0016

http://purl.bioontology.org/ontology/OMIM/176943.0029

http://purl.bioontology.org/ontology/OMIM/176943.0009

http://purl.bioontology.org/ontology/OMIM/176943.0043

http://purl.bioontology.org/ontology/OMIM/176943.0023

http://purl.bioontology.org/ontology/OMIM/176943.0017

http://purl.bioontology.org/ontology/OMIM/176943.0036

http://purl.bioontology.org/ontology/OMIM/176943.0037

http://purl.bioontology.org/ontology/OMIM/176943.0018

http://purl.bioontology.org/ontology/OMIM/176943.0028

MIMTYPEMEANING

Gene with known sequence

Moved from

148181

notation

176943

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FIBROBLAST GROWTH FACTOR RECEPTOR 2

tui

T191

T028

T116

T019

T033

T126

T086

T047

T192

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/23817003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C565129 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/703528008 SNOMEDCT CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17411 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17411 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17411 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17411 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17411 NCIT LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000168831 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/709105005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT CUI
http://purl.obolibrary.org/obo/PR_000001449 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000001449 PR LOOM
http://purl.obolibrary.org/obo/PR_000001449 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000001449 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000001449 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000001449 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000001449 NIFSTD LOOM
http://purl.bioontology.org/ontology/LNC/LP19704-3 LOINC CUI
http://www.drugtargetontology.org/dto/DTO_03100150 DTO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C04 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50Hz RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D04 SNMI CUI
http://purl.uniprot.org/uniprot/P21802 FTC LOOM
http://www.ncbi.nlm.nih.gov/gene/14183 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205258009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D051497 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10002943 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00914 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62964007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C537559 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI CUI
http://www.orpha.net/ORDO/Orphanet_132262 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_132262 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_132262 HORD LOOM
http://purl.org/skeletome/bonedysplasia#P000068 BDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70410008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1254-7792 CRISP CUI
http://purl.bioontology.org/ontology/MESH/C566511 MESH CUI
http://purl.bioontology.org/ontology/MESH/D054882 MESH CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://www.limics.org/hrdo/rdfns#gen_id_16664 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C02 SNMI CUI
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D003394 MESH CUI
http://purl.bioontology.org/ontology/MESH/C538132 MESH CUI
http://purl.obolibrary.org/obo/dinto_2717 DINTO LOOM