Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

FIBROBLAST GROWTH FACTOR RECEPTOR 3
Synonyms

SAETHRE-CHOTZEN SYNDROME

FGFR3/TACC3 FUSION GENE

LADD SYNDROME 2

COLORECTAL CANCER, SOMATIC

NEVUS, EPIDERMAL, SOMATIC

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS

SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS

THANATOPHORIC DYSPLASIA, TYPE II

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

FGFR3

MULTIPLE MYELOMA, SOMATIC

SPERMATOCYTIC SEMINOMA, SOMATIC

MUENKE SYNDROME

BLADDER CANCER, SOMATIC

HYPOCHONDROPLASIA

ACHONDROPLASIA

KERATOSIS, SEBORRHEIC, SOMATIC

CERVICAL CANCER, SOMATIC

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

THANATOPHORIC DYSPLASIA, TYPE I
ID

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

SAETHRE-CHOTZEN SYNDROME

FGFR3/TACC3 FUSION GENE

LADD SYNDROME 2

COLORECTAL CANCER, SOMATIC

NEVUS, EPIDERMAL, SOMATIC

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS

SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS

THANATOPHORIC DYSPLASIA, TYPE II

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

FGFR3

MULTIPLE MYELOMA, SOMATIC

SPERMATOCYTIC SEMINOMA, SOMATIC

MUENKE SYNDROME

BLADDER CANCER, SOMATIC

HYPOCHONDROPLASIA

ACHONDROPLASIA

KERATOSIS, SEBORRHEIC, SOMATIC

CERVICAL CANCER, SOMATIC

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

THANATOPHORIC DYSPLASIA, TYPE I
cui

C1851161

C1851152

C4017653

C1333543

C1833970

C1300257

C1868678

C2677099

C2674644

C1864852

C0001080

C1851162

C0175699

C1864436

C0410529

C5774286

C2674643

C2674173

C1851150
Gene Locus

4p16.3
Gene Symbol

ACH

FGFR3
Has allelic variant

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/134934.0038

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

T047

T033

T019

T191

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP19706-8 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C536508 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/389157002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567382 MESH CUI
http://purl.bioontology.org/ontology/MESH/C537975 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/787407003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10020967 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10082394 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389158007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/389158007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C566844 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389157002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702361006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/702361006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/720601000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/720601000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10000452 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/2715-2940 CRISP CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD CUI
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000281 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://purl.bioontology.org/ontology/MDRGER/10000453 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D000130 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/83015004 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1254-7792 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/440350001 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/440350001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C537369 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10088781 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10088781 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/787407003 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10088781 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10020967 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG410 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C562937 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A13 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/205468002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10020967 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1849-1975 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10082394 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10082394 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D000130 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.obolibrary.org/obo/PR_000001450 OBA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26129 NCIT LOOM
http://purl.org/skeletome/bonedysplasia#P000001 BDO LOOM
http://purl.uniprot.org/uniprot/P22607 FTC LOOM
http://purl.obolibrary.org/obo/dinto_2997 DINTO LOOM
http://www.ncbi.nlm.nih.gov/gene/14184 NIFSTD LOOM
http://www.orpha.net/ORDO/Orphanet_121815 ORDO LOOM
http://purl.obolibrary.org/obo/PR_000001450 PR LOOM
http://purl.obolibrary.org/obo/PR_000001450 CIDO LOOM
http://purl.obolibrary.org/obo/PR_000001450 NIFSTD LOOM
http://purl.obolibrary.org/obo/NCIT_C26129 BERO LOOM
http://www.drugtargetontology.org/dto/DTO_03100151 DTO LOOM