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Preferred Name

FIBROBLAST GROWTH FACTOR RECEPTOR 1
Synonyms

OSTEOGLOPHONIC DYSPLASIA
ID

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

OSTEOGLOPHONIC DYSPLASIA

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

FGFR1/ZNF198 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO

FMS-LIKE TYROSINE KINASE 2

FGFR1/FGFR1OP2 FUSION GENE

FGFR1

HARTSFIELD SYNDROME

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA

JACKSON-WEISS SYNDROME

PFEIFFER SYNDROME

FLT2

FLG

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA

TRIGONOCEPHALY 1

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO

FGFR1/TACC1 FUSION GENE

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO

FMS-LIKE GENE

FGFR1/BCR FUSION GENE
cui

C4016106

C4016102

C0919509

C5575048

C0432283

C3549724

C4016105

C1851030

C0795998

C0220658

C4016103

C0406612

C1845146

C0432122

C4016104

C1851029
Gene Locus

8p11.2-p11.1
Gene Symbol

FGFR1

OGD

FLT2

ECCL

HH2

KAL2

HRTFDS
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

136350
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FIBROBLAST GROWTH FACTOR RECEPTOR 1
tui

T028

T019

T033

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000001448 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000001448 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C536050 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C564484 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D000168 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17590 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/LNC/LP36216-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C535736 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_121802 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537559 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562951 Medical Subject Headings / 医学主题词表 CUI