FGFR1 - fibroblast growth factor receptor 1 Gene

Also Known as CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2260

About FGFR1

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,411,143-38,468,635 (from NCBI)

This gene has 58 transcripts (splice variants), 293 orthologues, 53 paralogues and is associated with 146 phenotypes. Ubiquitous expression in ovary (RPKM 21.8), fat (RPKM 21.4) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the Fibroblast Growth Factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

FGFR1 Products (51)

mRNA	Protein	Name
XM_006716304.2	XP_006716367.1	fibroblast growth factor receptor 1 isoform X7
XM_017013220.2	XP_016868709.1	fibroblast growth factor receptor 1 isoform X6
NM_001354369.2	NP_001341298.1	fibroblast growth factor receptor 1 isoform 17 precursor
NM_001174065.2	NP_001167536.1	fibroblast growth factor receptor 1 isoform 2 precursor
NM_023107.2
XM_047421570.1	XP_047277526.1	fibroblast growth factor receptor 1 isoform X11
XM_011544446.3	XP_011542748.1	fibroblast growth factor receptor 1 isoform X4
NM_001174067.2	NP_001167538.1	fibroblast growth factor receptor 1 isoform 14 precursor
XM_017013225.3	XP_016868714.1	fibroblast growth factor receptor 1 isoform X12
XM_017013231.2	XP_016868720.1	fibroblast growth factor receptor 1 isoform X26
XM_047421574.1	XP_047277530.1	fibroblast growth factor receptor 1 isoform X23
NM_023109.1
NM_001354367.2	NP_001341296.1	fibroblast growth factor receptor 1 isoform 15 precursor
NM_023108.2
XM_011544450.3	XP_011542752.1	fibroblast growth factor receptor 1 isoform X16
NM_001354368.2	NP_001341297.1	fibroblast growth factor receptor 1 isoform 16 precursor
XM_017013227.2	XP_016868716.1	fibroblast growth factor receptor 1 isoform X18
NM_001174064.2	NP_001167535.1	fibroblast growth factor receptor 1 isoform 11 precursor
XM_047421573.1	XP_047277529.1	fibroblast growth factor receptor 1 isoform X22
NM_001174063.2	NP_001167534.1	fibroblast growth factor receptor 1 isoform 10 precursor
NM_001174066.2	NP_001167537.1	fibroblast growth factor receptor 1 isoform 3 precursor
XM_006716307.2	XP_006716370.1	fibroblast growth factor receptor 1 isoform X8
XM_011544447.3	XP_011542749.1	fibroblast growth factor receptor 1 isoform X5
NM_032191.1
NM_023111.2
XM_017013221.2	XP_016868710.1	fibroblast growth factor receptor 1 isoform X7
NM_023105.3	NP_075593.1	fibroblast growth factor receptor 1 isoform 3 precursor
XM_047421572.1	XP_047277528.1	fibroblast growth factor receptor 1 isoform X15
NM_015850.4	NP_056934.2	fibroblast growth factor receptor 1 isoform 2 precursor
XM_017013219.2	XP_016868708.1	fibroblast growth factor receptor 1 isoform X3
XM_017013226.2	XP_016868715.1	fibroblast growth factor receptor 1 isoform X17
XM_011544444.2	XP_011542746.1	fibroblast growth factor receptor 1 isoform X2
XM_047421575.1	XP_047277531.1	fibroblast growth factor receptor 1 isoform X24
XM_011544448.2	XP_011542750.1	fibroblast growth factor receptor 1 isoform X13
XM_006716303.4	XP_006716366.1	fibroblast growth factor receptor 1 isoform X7
XM_006716310.4	XP_006716373.1	fibroblast growth factor receptor 1 isoform X19
XM_006716312.2	XP_006716375.1	fibroblast growth factor receptor 1 isoform X19
XM_024447097.1	XP_024302865.1	fibroblast growth factor receptor 1 isoform X10
NM_023110.3	NP_075598.2	fibroblast growth factor receptor 1 isoform 1 precursor
XM_011544449.2	XP_011542751.1	fibroblast growth factor receptor 1 isoform X14
XM_006716314.3	XP_006716377.1	fibroblast growth factor receptor 1 isoform X20
NM_001354370.2	NP_001341299.1	fibroblast growth factor receptor 1 isoform 18 precursor
XM_047421569.1	XP_047277525.1	fibroblast growth factor receptor 1 isoform X9
XM_047421576.1	XP_047277532.1	fibroblast growth factor receptor 1 isoform X25
XM_011544445.3	XP_011542747.1	fibroblast growth factor receptor 1 isoform X1
XM_011544451.1	XP_011542753.1	fibroblast growth factor receptor 1 isoform X21
XM_047421571.1	XP_047277527.1	fibroblast growth factor receptor 1 isoform X12
XM_011544452.3	XP_011542754.1	fibroblast growth factor receptor 1 isoform X27
XM_006716311.1	XP_006716374.1	fibroblast growth factor receptor 1 isoform X19
NM_001410922.1	NP_001397851.1	fibroblast growth factor receptor 1 isoform 19 precursor
NM_023106.3	NP_075594.1	fibroblast growth factor receptor 1 isoform 4 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables fibroblast growth factor binding	IDA IDA: Inferred from direct assay	8663044	GOA
enables fibroblast growth factor receptor activity	IDA IDA: Inferred from direct assay	18480409	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	18480409	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19696444	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1656221	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	20133753	GOA
enables protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	8622701	GOA
enables receptor-receptor interaction	IDA IDA: Inferred from direct assay	24157794	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to fibroblast growth factor stimulus	IDA IDA: Inferred from direct assay	21885851	GOA
involved in epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	26451614	GOA
involved in fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	8663044	GOA
acts upstream of or within fibroblast growth factor receptor signaling pathway	IGI IGI: Inferred from genetic interaction	8663044	GOA
acts upstream of or within fibroblast growth factor receptor signaling pathway	IPI IPI: Inferred from physical interaction	10830168	GOA
involved in peptidyl-tyrosine phosphorylation	IDA IDA: Inferred from direct assay	8622701	GOA
involved in positive regulation of MAP kinase activity	IDA IDA: Inferred from direct assay	8622701	GOA
involved in positive regulation of MAPK cascade	IGI IGI: Inferred from genetic interaction	26451614	GOA
involved in positive regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	8622701	GOA
involved in positive regulation of blood vessel endothelial cell migration	IGI IGI: Inferred from genetic interaction	23263626	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	8663044	GOA
acts upstream of or within positive regulation of cell population proliferation	IGI IGI: Inferred from genetic interaction	8663044	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	8622701	GOA
involved in positive regulation of endothelial cell chemotaxis	IDA IDA: Inferred from direct assay	21885851	GOA
involved in positive regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	8622701	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI IGI: Inferred from genetic interaction	26451614	GOA
involved in positive regulation of vascular endothelial cell proliferation	IGI IGI: Inferred from genetic interaction	23263626	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	8622701	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	18480409	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGFR1 Protein Structure

I-set

Pkinase_Tyr

0
200
400
600
800
853 a.a.

Protein Preferred Names	Protein Names
fibroblast growth factor receptor 1	FGFR1/PLAG1 fusion FMS-like tyrosine kinase 2 basic fibroblast growth factor receptor 1 fms-related tyrosine kinase 2 heparin-binding growth factor receptor hydroxyaryl-protein kinase proto-oncogene c-Fgr

FGFR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FGFR1	P11362	FGF2	Homo sapiens	P09038	Affinity Chrom	35384245
Intra	FGFR1	P11362	FGF2	Homo sapiens	P09038	NMR	23597563
Intra	FGFR1	P11362	FGF2	Homo sapiens	P09038	BioID	35384245
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	ITC	23063561
Intra	FGFR1	P11362	FGF1	Homo sapiens	P05230	SPR	14613973
Intra	FGFR1	P11362	FGF1	Homo sapiens	P05230	PLA	25241761
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	BRET	20932831
Intra	FGFR1	P11362	FGF2	Homo sapiens	P09038	SPR	14613973
Intra	FGFR1	P11362	FGF1	Homo sapiens	P05230	X-Ray Diffraction	10830168
Intra	FGFR1	P11362	FGF2	Homo sapiens	P09038	X-Ray Diffraction	11030354
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	Affinity Chrom	35384245
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	Pull Down	23063561
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	Protein Kinase Assay	23063561
Intra	FGFR1	P11362	PLCG1	Homo sapiens	P19174	BioID	35384245
Intra	FGFR1	P11362	FRS2	Homo sapiens	Q8WU20	Affinity Chrom	35384245
Intra	FGFR1	P11362	FRS2	Homo sapiens	Q8WU20	BioID	35384245
Intra	FGFR1	P11362	NOSTRIN	Homo sapiens	Q8IVI9	Anti Bait CoIP	22751148
Intra	FGFR1	P11362	NOSTRIN	Homo sapiens	Q8IVI9	Y2H	22751148
Cross	FGFR1	P11362	Kl	Mus musculus	O35082	GMS	19966287
Cross	FGFR1	P11362	Kl	Mus musculus	O35082	SPR	19966287
Intra	FGFR1	P11362	HSP90AB1	Homo sapiens	P08238	Affinity Chrom	35384245
Intra	FGFR1	P11362	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	31980649
Intra	FGFR1	P11362	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	11401320
Intra	FGFR1	P11362	CTNNB1	Homo sapiens	P35222	BioID	35384245
Intra	FGFR1	P11362	ANOS1	Homo sapiens	P23352	Confocal	19696444
Intra	FGFR1	P11362	ANOS1	Homo sapiens	P23352	Crosslink	19696444
Intra	FGFR1	P11362	HTR1A	Homo sapiens	P08908	BRET	22035699
Intra	FGFR1	P11362	HTR1A	Homo sapiens	P08908	FRET	25485703
Intra	FGFR1	P11362	HTR1A	Homo sapiens	P08908	Confocal	22035699
Intra	FGFR1	P11362	FGF23	Homo sapiens	Q9GZV9	SPR	19966287
Intra	FGFR1	P11362	NEDD4	Homo sapiens	P46934	FPS	21765395
Intra	FGFR1	P11362	NEDD4	Homo sapiens	P46934	Pull Down	21765395
Intra	FGFR1	P11362	NEDD4	Homo sapiens	P46934	Anti Bait CoIP	21765395
Intra	FGFR1	P11362	NEDD4	Homo sapiens	P46934	Anti Tag CoIP	21765395
Intra	FGFR1	P11362	CDH1	Homo sapiens	P12830	Anti Bait CoIP	11401320
Intra	FGFR1	P11362	PIK3R1	Homo sapiens	P27986	CoIP	18412956
Intra	FGFR1	P11362	PIK3R1	Homo sapiens	P27986	BioID	35384245
Cross	FGFR1	P11362	Plcg1	Rattus norvegicus	P10686	Anti Bait CoIP	19665973
Cross	FGFR1	P11362	Plcg1	Rattus norvegicus	P10686	ITC	19665973
Cross	FGFR1	P11362	Grb14	Rattus norvegicus	O88900	BRET	20932831

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FGFR1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73054	FGFR-1 beta Protein, Human (HEK293, His-Fc)	P11362-14/NP_075594.1 (R22-E285)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P73055	FGFR-1 beta Protein, Human (HEK293, His)	P11362-14/NP_075594.1 (R22-E285)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75763	FGFR-1 alpha (IIIb) Protein, Human (HEK293, Fc)	P11362-7/NP_056934.2 (R22-K310&A359-E374)&AAB19502 (H1-P47)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P75764	FGFR-1 alpha (IIIb) Protein, Human (HEK293, His)	P11362-7/NP_056934.2 (R22-K310&A359-E374)&AAB19502 (H1-P47)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75765	FGFR-1 beta (IIIb) Protein, Human (HEK293, Fc)	P11362-14/NP_075594.1 (R22-K221&A270-E285)&AAB19502 (H1-P47)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75766	FGFR-1 beta (IIIb) Protein, Human (HEK293, His)	P11362-14/NP_075594.1 (R22-K221&A270-E285)&AAB19502 (H1-P47)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P77654	FGFR-1 beta (IIIc) Protein, Human (HEK293, His-Avi)	P11362-7 (K158-T355)	≥ 95%, as determined by reducing SDS-PAGE or Bis-Tris PAGE.
HY-P77659	FGFR-1 alpha (IIIc) Protein, Human (HEK293, His-Avi)	P11362-7 (R22-E374)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77660	FGFR-1 alpha (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi)	P11362-7 (R22-E374)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P700635	FGFR-1 alpha Protein, Human (HEK293, C-His)	P11362-1 (R22-E376)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700720	FGFR-1 beta (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi)	P11362-7 (K158-T355)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700436	FGFR-1 beta Protein, Human (HEK293, hFc)	NP_075594.1 (R22-E285)	≥ 90%, as determined by reducing SDS-PAGE.

FGFR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80395	FGFR1 Antibody (YA441)	WB, ICC/IF	Human
HY-P84060	FGFR1 Antibody (YA3757)	FC, ELISA	Human, Mouse
HY-P84060A	FGFR1 Antibody (YA3757)(PBS only)	FC, ELISA	Human, Mouse
HY-P85167	FGFR1 Antibody (YA4859)	WB, ELISA	Human
HY-P86634	FGFR1 Antibody (YA6326)	WB, IHC-P, ICC/IF, IP, ELISA	Human

Related Diseases

Diseases	Alias
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Antley-Bixler Syndrome	Trapezoidocephaly Synostosis Syndrome Trapezoidocephaly-Synostosis Syndrome Antley Bixler Syndrome Multisynostotic Osteodysgenesis With Long Bone Fractures Osteodysgenesis, Multisynostotic With Fractures Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome Phenotype
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Nevus, Epidermal	Epidermal Nevus Woolly Hair Nevus Epidermal Naevus Epidermal Nevus Syndrome Nevus, Keratinocytic, Nonepidermolytic Epidermal Nevus, Somatic Nevus, Epidermal, Somatic Nevus Sebaceous Or Woolly Hair Nevus, Somatic Nonepidermolytic Keratinocytic Nevus Epidermal Hamartoma Syndrome Wooly Hair Nevus Keratinocytic Non-Epidermolytic Nevus KNEN Pigmented Moles Organoid Nevus Phakomatosis Nevus Sebaceous Melanocytic Nevus Melanocytic Nevus Of Skin
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Osteochondrodysplasia	Chondrodystrophy Skeletal Dysplasia Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Rhabdomyosarcoma
Hypophosphatemic Rickets, X-Linked Dominant	Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemia XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Hypophosphatemic Rickets X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Hartsfield Syndrome	Hartsfield-Bixler-Demyer Syndrome HRTFDS Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip/Palate Holoprosencephaly Ectrodactyly Cleft Lip Palate Hhes Holoprosencephaly And Split Hand/Foot Syndrome Holoprosencephaly, Hypertelorism, And Ectrodactyly Syndrome Holoprosencephaly-Ectrodactyly-Cleft Lip/Palate Syndrome Holoprosencephaly, Ectrodactyly And Bilateral Cleft Lip/Palate Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Oculoectodermal Syndrome	Aplasia Cutis Congenita With Epibulbar Dermoids Toriello-Lacassie-Droste Syndrome Oculoectodermal Syndrome, Somatic OES Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome Oculo-Ectodermal Syndrome Toriello Lacassie Droste Syndrome
Lacrimoauriculodentodigital Syndrome	Ladd Syndrome Levy-Hollister Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome LADD Lacrimoauriculodento-Digital Syndrome Levy Hollister Syndrome Lard Syndrome Lacrimoauriculoradiodental Syndrome LADDS Congenital Duodenal Obstruction Due To Malrotation Of Intestine
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Syndactyly, Type I Sd1 Zygodactyly Syndactyly, Type 1, With Or Without Craniosynostosis Non-Syndromic Syndactyly Symphalangism Symphalangy Webbing Of Digits Syndactyly, Type 1
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Ankylosis
Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement	Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement
Pancreatic Adenocarcinoma	Adenocarcinoma Of Pancreas Adenocarcinoma Of The Pancreas Pancreas Adenocarcinoma Malignant Exocrine Neoplasm Primary Pancreatic Adenocarcinoma Adenocarcinoma Of Islet Cell Of Pancreas Islet Cell Adenocarcinoma Of Unspecified Site Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Giant Cell Glioblastoma	Monstrocellular Sarcoma
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Brain Stem Glioma	Brainstem Neuroglial Tumor Brainstem Glioma Glioma Of Brainstem
Synostosis
Scoliosis
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Squamous Cell Skin Cancer Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
Pancreatic Cancer	Pancreatic Carcinoma Familial Pancreatic Carcinoma Pancreatic Neoplasm Carcinoma Of Pancreas Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Cancer Of The Pancreas Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Spinal Cord Oligodendroglioma	Oligodendroglioma Of Spinal Cord Well Differentiated Spinal Cord Oligodendroglioma
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial Tumoral Calcinosis
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Idiopathic Hypogonadotropic Hypogonadism HH7 Hypogonadism, Isolated Hypogonadotropic Ihh Hypogonadism, Isolated, Hypogonadotropic Hypogonadotropic Hypogonadism Isolated Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism 7 Without Anosmia Congenital Hypogonadotropic Hypogonadism Normosmic Hh Klinefelter Syndrome Isolated Gonadotropin Deficiency
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Neurofibrosarcoma	Neurosarcoma Malignant Peripheral Nerve Sheath Tumor
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Pilomyxoid Astrocytoma
Non-Syndromic Metopic Craniosynostosis	Isolated Metopic Craniosynostosis Isolated Trigonocephaly Non-Syndromic Metopic Suture Synostosis Trigonocephaly, Isolated
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Childhood Oligodendroglioma	Pediatric Oligodendroglioma Oligodendroglioma, Childhood
Simple Partial Epilepsy	Epilepsy, Simple Partial
Hypertelorism, Microtia, Facial Clefting Syndrome	Hmc Syndrome Bixler Christian Gorlin Syndrome Bixler-Christian-Gorlin Syndrome Hypertelorism-Microtia-Facial Clefting Syndrome Bixler Syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism Microtia Facial Clefting Syndrome
Lobar Holoprosencephaly
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Primary Hypereosinophilic Syndrome	Clonal Hypereosinophilic Syndrome Hes-M Hes-N Neoplastic Hypereosinophilic Syndrome Primary Hes Hm Syndrome
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hypereosinophilic Syndrome	Eosinophilia HES Eosinophilic Leukocytosis Hypereosinophilic Syndrome, Idiopathic Idiopathic Hypereosinophilic Syndrome Disseminated Eosinophilic Collagen Disease Eosinophilic Disorder Disorders With Increased Eosinophil Counts
Hypogonadism
Bone Development Disease
Mastocytosis	Mast Cell Disease Mast Cell Hyperplasia Urticaria Pigmentosa Malignant Mastocytoma Malignant Mast Cell Tumours Malignant Mastocytosis
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Dysembryoplastic Neuroepithelial Tumor	Dysembryoplastic Neuroepithelial Neoplasm Dysembryoplastic Neuroepithelial Tumour Dnet
Lymphoblastic Lymphoma	Lymphoma, Lymphoblastic Lymphoma Lymphoblastic Precursor Cell Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Protection Against Lung Cancer, Susceptibility To Adenocarcinoma Of Lung, Somatic Nonsmall Cell Lung Cancer Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Systemic Mastocytosis	Systemic Mast Cell Disease Systemic Tissue Mast Cell Disease Mastocytosis, Systemic Smcd - Systemic Mast Cell Disease Smcd Mast Cell Disease, Systemic Systemic Mast-Cell Disease Systemic Mastocytoses Mastocytosis Systemic Corneal Dystrophy, Subepithelial Mucinous Smcd - [Systemic Mast Cell Disease]
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Trigonocephaly 1	Metopic Craniosynostosis TRIGNO1 Craniosynostosis, Metopic Interfrontal Craniofaciosynostosis Trigonocephaly 2
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Chondroblastoma	Chondroblastoma Of Bone
8p11 Myeloproliferative Syndrome	8p11 Stem Cell Leukemia/Lymphoma Syndrome 8p11 Stem Cell Syndrome Myeloid And Lymphoid Neoplasms With Fgfr1 Abnormalities Stem Cell Leukemia/Lymphoma Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement Chromosome 8p11 Myeloproliferative Syndrome
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Encephalocraniocutaneous Lipomatosis	ECCL Haberland Syndrome Fishman Syndrome Encephalocraniocutaneous Lipomatosis, Somatic Mosaic Lipomatosis, Encephalocraniocutaneous
Neuroma
Orofacial Cleft	Cleft, Orofacial
Dysostosis	Dysostoses
Endomyocardial Fibrosis	Becker'S Disease Obscure African Cardiomyopathy African Endomyocardial Fibrosis Endomyocardial Sclerosis EMF Becker Muscular Dystrophy
Pfeiffer Syndrome	Infectious Mononucleosis Acs5 Craniofacial-Skeletal-Dermatologic Dysplasia Acs V Noack Syndrome Gammaherpesviral Mononucleosis Acrocephalosyndactyly Type 5 Pfeiffer Syndrome Type 3 Acrocephalosyndactyly, Type V Glandular Fever Pfeiffer Type Acrocephalosyndactyly Pfeiffer Syndrome Type 2 Acrocephalosyndactylia Type V Filatov'S Disease Monocytic Angina Mononucleosis Pfeiffer'S Disease Acsv Acrocephalosyndactyly, Type 5 Craniofacial-Skeletal-Dermatologic Syndrome Pfeiffer Syndrome Type 1 Classic Pfeiffer Syndrome PS Pfeiffer Syndrome Variant Dysplasia, Craniofacial-Skeletal-Dermatologic Pfeiffer Kissing Disease Infectious Adenitis Pfeiffer Disease
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Semilobar Holoprosencephaly
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	LALL Lymphomatous All Leukemia, Acute Lymphoblastic Acute Lymphoblastic Leukemia With Lymphomatous Features
Chromosome 8p11 Myeloproliferative Syndrome	Stem Cell Leukemia/Lymphoma Scll Myeloid/Lymphoid Neoplasm Associated With Fgfr1 Rearrangement 8p11 Myeloproliferative Syndrome Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN Saddan Dysplasia Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans Ssb Syndrome Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Achondroplasia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Skin Lipoma	Lipoma Of Skin Cutaneous Lipoma Cutaneous Lipomatous Tumor Lipoma Of Face Cutaneous Lipomatous Neoplasm
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Plagiocephaly	Asymmetric Head Lateral Curvatures Of Skull Unequal Unicoronal Synostosis
Chronic Leukemia	Adult Chronic Leukemia Cll Cml
Low Grade Glioma	Benign Glioma
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Desmoplastic/Nodular Medulloblastoma Medulloblastoma With Extensive Nodularity Desmoplastic Medulloblastoma Medulloblastoma, Somatic Medulloblastoma, Desmoplastic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Mben Medulloblastoma Desmoplastic Neuroectodermal Tumors, Primitive Medulloblastomas Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Holoprosencephaly 1	Arhinencephaly HPE1 Cyclopia Holoprosencephaly, Familial Alobar Hpe, Familial Hpec Demyer Sequence Holoprosencephaly-1
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acs I Apert-Crouzon Disease Acrocephalosyndactyly Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative	Atypical Chronic Myeloid Leukaemia Atypical Chronic Myeloid Leukemia Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Acml Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Atypical Cml Subacute Myeloid Leukemia Subacute Myelogenous Leukaemia Subacute Myeloid Leukaemia Subacute Myelosis Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission Subacute Monocytic Leukaemia Without Mention Of Remission Subacute Monocytic Leukaemia
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Clivus Chondroid Chordoma	Chondroid Chordoma Of The Clivus
Hematologic Cancer	Hematologic Neoplasm Hematologic Malignancies Hematologic Neoplasms Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Kallmann Syndrome 1 Dysplasia Olfactogenitalis Of De Morsier Kal1 HH1 Kms Hypogonadotropic Hypogonadism And Anosmia Hha Anosmic Hypogonadism Kallmann Syndrome, X-Linked Kallmann Syndrome, Type 1, X-Linked Kallmann Syndrome, Type 1, X Linked Hypogonadism, Hypogonadotropic, Type 1, With/Without Anosmia ) Kallmann Syndrome
Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Pdgfra, Pdgfrb, And Fgfr1	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Platelet-Derived Growth Factor Receptor Alpha , Platelet-Derived Growth Factor Receptor Beta , And Fibroblast Growth Factor Receptor-1 Are A Group Of Hematologic Neoplasms Myeloid And Lymphoid Neoplasms With Eosinophilia And Rearrangement Of Pdgfra, Pdgfrb, Or Fgfr1, Or With Pcm1-Jak2
Liposarcoma	Lipomatous Cancer
Adult Oligodendroglioma	Adult Brain Oligodendroglioma Grade Ii Adult Oligodendroglial Tumor Oligodendroglioma, Adult
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Normosmic Congenital Hypogonadotropic Hypogonadism	Normosmic Idiopathic Hypogonadotropic Hypogonadism Nihh
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Childhood Pilocytic Astrocytoma	Pediatric Pilocytic Astrocytoma
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Sensorineural Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Muenke Syndrome	Muenke Nonsyndromic Coronal Craniosynostosis Fgfr3-Related Craniosynostosis Fgfr3-Associated Coronal Synostosis Coronal Craniosynostosis MNKES Syndrome Of Coronal Craniosynostosis MNKS Fgfr3-Related Isolated Coronal Synostosis Muenke Non-Syndromic Coronal Craniosynostosis
Beare-Stevenson Cutis Gyrata Syndrome	Cutis Gyrata Syndrome Of Beare And Stevenson Beare-Stevenson Syndrome BSTVS Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome Beare Stevenson Syndrome Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis Cutis Gyrata Syndrome Of Beare-Stevenson
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Leukemia, Myeloid, Acute Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Lipomatosis	Benign Symmetrical Lipomatosis
Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities
Rosette-Forming Glioneuronal Tumor	Rgnt
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Chronic Eosinophilic Leukemia	Pdgfra-Associated Chronic Eosinophilic Leukemia
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma Transitional Cell Carcinoma Of Bladder Transitional Cell Carcinoma Of The Bladder Urinary Bladder Urothelial Carcinoma Urothelial Bladder Carcinoma Carcinoma Transitional Cell Bladder Tcc - [Transitional Cell Carcinoma] Of Bladder
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Essential Thrombocythemia	Essential Thrombocytosis Familial Thrombocytosis Hemorrhagic Thrombocythemia Hereditary Thrombocythemia Primary Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Thrombocythemia, Essential Essential Thrombocythaemia Et Familial Thrombocythemia Thrombocythemia Essential
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99930	Efruxifermin	Activator	98.58%	Phase 3

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163705	BR-cpd7	Degrader	98.01%	Unkown
HY-165298	DGY-09-192	Degrader	99.50%	Unkown
HY-184094	Risimtinib	Inhibitor	/	Unkown
HY-135435	SU10944	Inhibitor	/	Unkown
HY-P11852	NOTA-cRY9M		/	Unkown
HY-183780	FGFR-IN-27	Inhibitor	/	Unkown
HY-181752	FGFR3-IN-12	Inhibitor	/	Unkown
HY-10321G	PD173074 (GMP)	Inhibitor	/	Unkown
HY-184250	FGFR-IN-28	Inhibitor	/	Unkown
HY-184598	CYB-5067	Degrader	/	Unkown
HY-160013	FGFR-IN-12	Inhibitor	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990252	Anti-Mouse Delta-like protein 4/DLL4 Antibody (HMD4-2)	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FGFR1	VGNC	VGNC:72651
Mus musculus	FGFR1	MGD	MGI:95522
Bos taurus	FGFR1	VGNC	VGNC:50179
Rattus norvegicus	FGFR1	RGD	RGD:620713
Felis catus	FGFR1	VGNC	VGNC:62258
Canis familiaris	FGFR1	VGNC	VGNC:40856
Others	FGFR1	NCBI