Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

FIBROBLAST GROWTH FACTOR RECEPTOR 1
Synonyms

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO

HARTSFIELD SYNDROME

FLG

FMS-LIKE TYROSINE KINASE 2

FGFR1/ZNF198 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO

PFEIFFER SYNDROME

FMS-LIKE GENE

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

FGFR1

FGFR1/FGFR1OP2 FUSION GENE

FGFR1/TACC1 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA

FGFR1/BCR FUSION GENE

JACKSON-WEISS SYNDROME

FLT2

OSTEOGLOPHONIC DYSPLASIA

TRIGONOCEPHALY 1
ID

http://purl.bioontology.org/ontology/OMIM/136350
altLabel

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO

HARTSFIELD SYNDROME

FLG

FMS-LIKE TYROSINE KINASE 2

FGFR1/ZNF198 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO

PFEIFFER SYNDROME

FMS-LIKE GENE

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

FGFR1

FGFR1/FGFR1OP2 FUSION GENE

FGFR1/TACC1 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA

FGFR1/BCR FUSION GENE

JACKSON-WEISS SYNDROME

FLT2

OSTEOGLOPHONIC DYSPLASIA

TRIGONOCEPHALY 1
cui

C0795998

C0919509

C4016105

C5575048

C0220658

C4016102

C1851029

C0432122

C4016104

C1845146

C0406612

C3549724

C1851030

C0432283

C4016106

C4016103
Gene Locus

8p11.2-p11.1
Gene Symbol

FGFR1

FLT2

HH2

HRTFDS

ECCL

OGD

KAL2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/136350.0006

http://purl.bioontology.org/ontology/OMIM/136350.0009

http://purl.bioontology.org/ontology/OMIM/136350.0002

http://purl.bioontology.org/ontology/OMIM/136350.0008

http://purl.bioontology.org/ontology/OMIM/136350.0001

http://purl.bioontology.org/ontology/OMIM/136350.0005

http://purl.bioontology.org/ontology/OMIM/136350.0007

http://purl.bioontology.org/ontology/OMIM/136350.0004

http://purl.bioontology.org/ontology/OMIM/136350.0003

http://purl.bioontology.org/ontology/OMIM/136350.0017

http://purl.bioontology.org/ontology/OMIM/136350.0015

http://purl.bioontology.org/ontology/OMIM/136350.0012

http://purl.bioontology.org/ontology/OMIM/136350.0014

http://purl.bioontology.org/ontology/OMIM/136350.0019

http://purl.bioontology.org/ontology/OMIM/136350.0011

http://purl.bioontology.org/ontology/OMIM/136350.0013

http://purl.bioontology.org/ontology/OMIM/136350.0016

http://purl.bioontology.org/ontology/OMIM/136350.0010

http://purl.bioontology.org/ontology/OMIM/136350.0018

http://purl.bioontology.org/ontology/OMIM/136350.0031

http://purl.bioontology.org/ontology/OMIM/136350.0033

http://purl.bioontology.org/ontology/OMIM/136350.0034

http://purl.bioontology.org/ontology/OMIM/136350.0030

http://purl.bioontology.org/ontology/OMIM/136350.0032

http://purl.bioontology.org/ontology/OMIM/136350.0023

http://purl.bioontology.org/ontology/OMIM/136350.0021

http://purl.bioontology.org/ontology/OMIM/136350.0025

http://purl.bioontology.org/ontology/OMIM/136350.0028

http://purl.bioontology.org/ontology/OMIM/136350.0029

http://purl.bioontology.org/ontology/OMIM/136350.0024

http://purl.bioontology.org/ontology/OMIM/136350.0026

http://purl.bioontology.org/ontology/OMIM/136350.0022

http://purl.bioontology.org/ontology/OMIM/136350.0027

http://purl.bioontology.org/ontology/OMIM/136350.0020
MIMTYPEMEANING

Gene with known sequence
notation

136350
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FIBROBLAST GROWTH FACTOR RECEPTOR 1
tui

T047

T033

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/709105005 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP36216-7 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C02 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X788t RCD CUI
http://purl.bioontology.org/ontology/MESH/C564484 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50EL RCD CUI
http://purl.bioontology.org/ontology/RCD/X78Bs RCD CUI
http://purl.bioontology.org/ontology/MESH/C537559 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/709105005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X50Hz RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/70410008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10082289 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10082289 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70410008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10082289 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/MESH/C562951 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.03 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/109409003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109409003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/766032007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/766032007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C535736 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238905009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238905009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254144002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536050 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/254144002 SCTSPA CUI
http://purl.obolibrary.org/obo/PR_000001448 OBA LOOM
http://www.drugtargetontology.org/dto/DTO_03100149 DTO LOOM
http://purl.obolibrary.org/obo/PR_000001448 PR LOOM
http://purl.obolibrary.org/obo/PR_000001448 CIDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16046 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C17590 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_121802 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17590 NCIT LOOM
http://purl.org/skeletome/bonedysplasia#P000067 BDO LOOM