Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

FIBROBLAST GROWTH FACTOR RECEPTOR 3
Synonyms

FGFR3/TACC3 FUSION GENE
ID

http://purl.bioontology.org/ontology/OMIM/134934
altLabel

FGFR3/TACC3 FUSION GENE

COLORECTAL CANCER, SOMATIC

MUENKE SYNDROME

VARIANT OF UNKNOWN SIGNIFICANCE

CERVICAL CANCER, SOMATIC

SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS

SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS

FGFR3

KERATOSIS, SEBORRHEIC, SOMATIC

SPERMATOCYTIC SEMINOMA, SOMATIC

MULTIPLE MYELOMA, SOMATIC

NEVUS, EPIDERMAL, SOMATIC

BLADDER CANCER, SOMATIC

SAETHRE-CHOTZEN SYNDROME

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

HYPOCHONDROPLASIA

THANATOPHORIC DYSPLASIA, TYPE II

LADD SYNDROME

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

ACHONDROPLASIA

THANATOPHORIC DYSPLASIA, TYPE I
cui

C2674644

C1864436

C1300257

C1851150

C0265269

C0001080

C1851161

C1833970

C4225629

C1868678

C1851152

C2674643

C1333543

C0175699

C1851162

C1864852

C2986382

C0410529

C2677099

C4017653
Gene Locus

4p16.3
Gene Symbol

FGFR3

ACH
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/134934.0020

http://purl.bioontology.org/ontology/OMIM/134934.0002

http://purl.bioontology.org/ontology/OMIM/134934.0013

http://purl.bioontology.org/ontology/OMIM/134934.0034

http://purl.bioontology.org/ontology/OMIM/134934.0033

http://purl.bioontology.org/ontology/OMIM/134934.0035

http://purl.bioontology.org/ontology/OMIM/134934.0026

http://purl.bioontology.org/ontology/OMIM/134934.0021

http://purl.bioontology.org/ontology/OMIM/134934.0006

http://purl.bioontology.org/ontology/OMIM/134934.0001

http://purl.bioontology.org/ontology/OMIM/134934.0022

http://purl.bioontology.org/ontology/OMIM/134934.0007

http://purl.bioontology.org/ontology/OMIM/134934.0014

http://purl.bioontology.org/ontology/OMIM/134934.0015

http://purl.bioontology.org/ontology/OMIM/134934.0008

http://purl.bioontology.org/ontology/OMIM/134934.0027

http://purl.bioontology.org/ontology/OMIM/134934.0009

http://purl.bioontology.org/ontology/OMIM/134934.0028

http://purl.bioontology.org/ontology/OMIM/134934.0019

http://purl.bioontology.org/ontology/OMIM/134934.0030

http://purl.bioontology.org/ontology/OMIM/134934.0032

http://purl.bioontology.org/ontology/OMIM/134934.0016

http://purl.bioontology.org/ontology/OMIM/134934.0036

http://purl.bioontology.org/ontology/OMIM/134934.0012

http://purl.bioontology.org/ontology/OMIM/134934.0010

http://purl.bioontology.org/ontology/OMIM/134934.0031

http://purl.bioontology.org/ontology/OMIM/134934.0037

http://purl.bioontology.org/ontology/OMIM/134934.0011

http://purl.bioontology.org/ontology/OMIM/134934.0004

http://purl.bioontology.org/ontology/OMIM/134934.0023

http://purl.bioontology.org/ontology/OMIM/134934.0003

http://purl.bioontology.org/ontology/OMIM/134934.0005

http://purl.bioontology.org/ontology/OMIM/134934.0017

http://purl.bioontology.org/ontology/OMIM/134934.0018

http://purl.bioontology.org/ontology/OMIM/134934.0025

http://purl.bioontology.org/ontology/OMIM/134934.0029
MIMTYPEMEANING

Gene with known sequence
notation

134934
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FIBROBLAST GROWTH FACTOR RECEPTOR 3
tui

T191

T028

T019

T033

T086

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537369 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MESH/D000168 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567382 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP19706-8 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q77.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.obolibrary.org/obo/PR_000001450 International Classification of Diseases Ontology LOOM
http://purl.obolibrary.org/obo/PR_000001450 Protein Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26129 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C536508 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562937 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566844 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C538132 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537975 Medical Subject Headings CUI