FGFR3 - fibroblast growth factor receptor 3 Gene

Also Known as ACH; CEK2; JTK4; CD333; HSFGFR3EX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2261

About FGFR3

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,793,293-1,808,867 (from NCBI)

This gene has 10 transcripts (splice variants), 191 orthologues, 53 paralogues and is associated with 167 phenotypes. Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues.

Summary

This gene encodes a member of the Fibroblast Growth Factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

FGFR3 Products (18)

mRNA	Protein	Name
NM_001354809.2	NP_001341738.1	fibroblast growth factor receptor 3 isoform 4 precursor
XM_047449824.1	XP_047305780.1	fibroblast growth factor receptor 3 isoform X10
XM_011513422.2	XP_011511724.1	fibroblast growth factor receptor 3 isoform X7
XM_006713873.2	XP_006713936.1	fibroblast growth factor receptor 3 isoform X9
NM_022965.4	NP_075254.1	fibroblast growth factor receptor 3 isoform 2 precursor
NM_001163213.2	NP_001156685.1	fibroblast growth factor receptor 3 isoform 3 precursor
NM_001354810.2	NP_001341739.1	fibroblast growth factor receptor 3 isoform 5 precursor
XM_047449821.1	XP_047305777.1	fibroblast growth factor receptor 3 isoform X4
NR_148971.2
XM_047449823.1	XP_047305779.1	fibroblast growth factor receptor 3 isoform X9
NM_000142.5	NP_000133.1	fibroblast growth factor receptor 3 isoform 1 precursor
XM_011513420.2	XP_011511722.1	fibroblast growth factor receptor 3 isoform X6
XM_006713869.2	XP_006713932.1	fibroblast growth factor receptor 3 isoform X3
XM_006713870.2	XP_006713933.1	fibroblast growth factor receptor 3 isoform X2
XM_047449822.1	XP_047305778.1	fibroblast growth factor receptor 3 isoform X8
XM_006713871.2	XP_006713934.1	fibroblast growth factor receptor 3 isoform X5
XM_047449820.1	XP_047305776.1	fibroblast growth factor receptor 3 isoform X1
XM_006713868.2	XP_006713931.1	fibroblast growth factor receptor 3 isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables fibroblast growth factor binding	IDA IDA: Inferred from direct assay	8663044	GOA
enables fibroblast growth factor binding	IPI IPI: Inferred from physical interaction	12815063	GOA
enables fibroblast growth factor receptor activity	IMP IMP: Inferred from mutant phenotype	8663044	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	14732692	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14732692	GOA
enables protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	11294897	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cell surface receptor signaling pathway via JAK-STAT	IMP IMP: Inferred from mutant phenotype	11294897	GOA
involved in fibroblast growth factor receptor apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	17561467	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
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	11294897	GOA
involved in positive regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	11294897	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	8663044	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	11294897	GOA
involved in positive regulation of phospholipase activity	IMP IMP: Inferred from mutant phenotype	17561467	GOA
involved in positive regulation of tyrosine phosphorylation of STAT protein	IMP IMP: Inferred from mutant phenotype	17561467	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18061161	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8663044	GOA
located in transport vesicle	IDA IDA: Inferred from direct assay	18061161	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

FGFR3 Protein Structure

I-set

Pkinase_Tyr

0
200
400
600
806 a.a.

Protein Preferred Names	Protein Names
fibroblast growth factor receptor 3	FGFR-3 fibroblast growth factor receptor 3-S hydroxyaryl-protein kinase tyrosine kinase JTK4

FGFR3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FGFR3	P22607	IQGAP3	Homo sapiens	Q86VI3	Validated Y2H	32814053
Intra	FGFR3	P22607	IQGAP3	Homo sapiens	Q86VI3	Y2H Pooling	32814053
Intra	FGFR3	P22607	IQGAP3	Homo sapiens	Q86VI3	Y2H Array	32814053
Intra	FGFR3	P22607	THAP3	Homo sapiens	Q8WTV1	Y2H Pooling	32814053
Intra	FGFR3	P22607	THAP3	Homo sapiens	Q8WTV1	Validated Y2H	32814053
Intra	FGFR3	P22607	THAP3	Homo sapiens	Q8WTV1	Y2H Array	32814053
Intra	FGFR3	P22607	LONRF2	Homo sapiens	Q1L5Z9	Y2H Pooling	32814053
Intra	FGFR3	P22607	LONRF2	Homo sapiens	Q1L5Z9	Validated Y2H	32814053
Intra	FGFR3	P22607	LONRF2	Homo sapiens	Q1L5Z9	Y2H Array	32814053
Intra	FGFR3	P22607	PALS1	Homo sapiens	Q8N3R9	Y2H Pooling	32814053
Intra	FGFR3	P22607	PALS1	Homo sapiens	Q8N3R9	Validated Y2H	32814053
Intra	FGFR3	P22607	PALS1	Homo sapiens	Q8N3R9	Y2H Array	32814053
Intra	FGFR3	P22607	OTUD7B	Homo sapiens	Q6GQQ9-2	Y2H Pooling	32814053
Intra	FGFR3	P22607	OTUD7B	Homo sapiens	Q6GQQ9-2	Validated Y2H	32814053
Intra	FGFR3	P22607	OTUD7B	Homo sapiens	Q6GQQ9-2	Y2H Array	32814053
Intra	FGFR3	P22607	HECTD3	Homo sapiens	Q5T447-2	Validated Y2H	32814053
Intra	FGFR3	P22607	HECTD3	Homo sapiens	Q5T447-2	Y2H Pooling	32814053
Intra	FGFR3	P22607	HECTD3	Homo sapiens	Q5T447-2	Y2H Array	32814053
Intra	FGFR3	P22607	CDC37	Homo sapiens	Q16543	BioID	35384245
Intra	FGFR3	P22607	CDC37	Homo sapiens	Q16543	Affinity Chrom	35384245
Intra	FGFR3	P22607	CDC37	Homo sapiens	Q16543	Lumier	25036637
Intra	FGFR3	P22607	HSD17B12	Homo sapiens	Q53GQ0	BioID	35384245
Intra	FGFR3	P22607	CEP57	Homo sapiens	Q86XR8	Validated Y2H	32814053
Intra	FGFR3	P22607	CEP57	Homo sapiens	Q86XR8	Y2H Array	32814053
Intra	FGFR3	P22607	CEP57	Homo sapiens	Q86XR8	Y2H Pooling	32814053
Intra	FGFR3	P22607	CDS2	Homo sapiens	O95674	BioID	35384245
Intra	FGFR3	P22607	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	22939624
Intra	FGFR3	P22607	HSP90AB1	Homo sapiens	P08238	Lumier	22939624
Intra	FGFR3	P22607	FGFR3	Homo sapiens	P22607	SPR	14732692
Intra	FGFR3	P22607	GUSBP1	Homo sapiens	Q15486	Validated Y2H	32814053
Intra	FGFR3	P22607	GUSBP1	Homo sapiens	Q15486	Y2H Pooling	32814053
Intra	FGFR3	P22607	STIM1	Homo sapiens	Q13586	Validated Y2H	32814053
Intra	FGFR3	P22607	GUSBP1	Homo sapiens	Q15486	Y2H Array	32814053
Intra	FGFR3	P22607	STIM1	Homo sapiens	Q13586	Y2H Pooling	32814053
Intra	FGFR3	P22607	STIM1	Homo sapiens	Q13586	BioID	35384245
Intra	FGFR3	P22607	GUSBP1	Homo sapiens	Q15486	Y2H Pooling	16169070
Intra	FGFR3	P22607	HSP90AB1	Homo sapiens	P08238	Affinity Chrom	35384245
Intra	FGFR3	P22607	STIM1	Homo sapiens	Q13586	Y2H Array	32814053
Intra	FGFR3	P22607	HSP90AB1	Homo sapiens	P08238	BioID	35384245
Intra	FGFR3	P22607	PFDN6	Homo sapiens	O15212	Y2H Pooling	32814053
Intra	FGFR3	P22607	PFDN6	Homo sapiens	O15212	Validated Y2H	32814053
Intra	FGFR3	P22607	PFDN6	Homo sapiens	O15212	Y2H Array	32814053
Intra	FGFR3	P22607	SMARCB1	Homo sapiens	Q12824	Y2H Pooling	32814053
Intra	FGFR3	P22607	SMARCB1	Homo sapiens	Q12824	Validated Y2H	32814053
Intra	FGFR3	P22607	SMARCB1	Homo sapiens	Q12824	Y2H Array	32814053
Intra	FGFR3	P22607	MAP1LC3B	Homo sapiens	Q9GZQ8	Y2H Pooling	32814053
Intra	FGFR3	P22607	MAP1LC3B	Homo sapiens	Q9GZQ8	Validated Y2H	32814053
Intra	FGFR3	P22607	MAP1LC3B	Homo sapiens	Q9GZQ8	Y2H Array	32814053
Intra	FGFR3	P22607	NPAS2	Homo sapiens	Q99743	Y2H Pooling	32814053
Intra	FGFR3	P22607	NPAS2	Homo sapiens	Q99743	Validated Y2H	32814053
Intra	FGFR3	P22607	NPAS2	Homo sapiens	Q99743	Y2H Array	32814053
Intra	FGFR3	P22607	ELL2	Homo sapiens	O00472	Validated Y2H	32814053
Intra	FGFR3	P22607	ELL2	Homo sapiens	O00472	Y2H Array	32814053
Intra	FGFR3	P22607	ELL2	Homo sapiens	O00472	Y2H Pooling	32814053
Intra	FGFR3	P22607	RASSF1	Homo sapiens	Q9NS23-4	Y2H Pooling	32814053
Intra	FGFR3	P22607	RASSF1	Homo sapiens	Q9NS23-4	Validated Y2H	32814053
Intra	FGFR3	P22607	RASSF1	Homo sapiens	Q9NS23-4	Y2H Array	32814053
Intra	FGFR3	P22607	MYC	Homo sapiens	P01106	Validated Y2H	32814053
Intra	FGFR3	P22607	MYC	Homo sapiens	P01106	Y2H Array	32814053
Intra	FGFR3	P22607	MYC	Homo sapiens	P01106	Y2H Pooling	32814053
Intra	FGFR3	P22607	THEM4	Homo sapiens	Q5T1C6	Y2H Array	32814053
Intra	FGFR3	P22607	THEM4	Homo sapiens	Q5T1C6	Y2H Pooling	32814053
Intra	FGFR3	P22607	THEM4	Homo sapiens	Q5T1C6	Validated Y2H	32814053
Intra	FGFR3	P22607	FBLN5	Homo sapiens	Q9UBX5	Y2H Pooling	32814053
Intra	FGFR3	P22607	FBLN5	Homo sapiens	Q9UBX5	Validated Y2H	32814053
Intra	FGFR3	P22607	FBLN5	Homo sapiens	Q9UBX5	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FGFR3 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70817	FGFR-3 alpha (IIIc) Protein, Human (HEK293, Fc)	P22607-1 (E23-G375)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P72196	FGFR-3 Protein, Human (His-B2M)	P22607-1 (R397-T806)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P72644	FGFR-3 alpha (IIIc) Protein, Human (HEK293, His)	P22607-1 (E23-G375)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77655	FGFR-3 alpha (IIIb) Protein, Human (HEK293, His-Avi)	P22607-2 (E23-G377)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P77656	FGFR-3 alpha (IIIb) Protein, Human (Biotinylated, HEK293, His-Avi)	P22607-2 (E23-G377)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P77657	FGFR-3 beta (IIIb) Protein, Human (HEK293, His-Avi)	P22607-2 (D127-G377)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P77658	FGFR-3 beta (IIIb) Protein, Human (Biotinylated, HEK293, His-Avi)	P22607-2 (D127-G377)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78124	FGFR-3 alpha (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi)	P22607-1 (E23-G375)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78126	FGFR-3 beta (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi)	P22607-1 (D127-G375)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78439	FGFR-3 alpha (IIIc) Protein, Human (HEK293, His-Avi)	P22607-1 (E23-G375)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P78440	FGFR-3 beta (IIIc) Protein, Human (HEK293, His-Avi)	P22607-1 (D127-G375)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P700484	FGFR-3 Protein, Human (P. pastoris, N-His)	P22607-1 (R397-T806)	≥ 90%, as determined by reducing SDS-PAGE.

FGFR3 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P80399	FGFR3 Antibody (YA438)	WB, ICC/IF, IHC-P	Human, Mouse
HY-P810794	Phospho-FGFR3 (Tyr642) Antibody (YA10037)	WB, ICC/IF, IP, FC	Human, Mouse
HY-P84190	FGFR3 Antibody (YA3887)	IHC-P, FC, ELISA	Human
HY-P84190A	FGFR3 Antibody (YA3887)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Head And Neck Cancer Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Cancer, Head/Neck Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
Urinary Tract Papillary Transitional Cell Benign Neoplasm	Inverted Papilloma Of Urinary Tract Papillary Transitional Cell Neoplasm Of The Urinary Tract Urinary Tract Inverted Papilloma Inverted Urothelial Papilloma
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
Renal Hypodysplasia/Aplasia 3	RHDA3 Renal Agenesis, Unilateral Unilateral Renal Agenesis
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
Keratosis, Seborrheic	Seborrheic Keratosis Keratosis, Seborrheic, Somatic Basal Cell Papilloma Keratosis Seborrheica KERSEB
Dacryocystocele	Lacrimal Mucocele
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Scoliosis
Porokeratosis	Disseminated Superficial Actinic Porokeratosis Dsap Porokeratosis Of Mibelli Porokeratosis, Disseminated Superficial Actinic Porokeratosis, Disseminated Superficial Actinic, 1
Dermatosis Papulosa Nigra
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
Plasma Cell Leukemia	Plasma Cell Leukaemia Leukemia, Plasma Cell Plasmacytic Leukaemia Plasmacytic Leukemia Pcl Plasma Cell Leukaemia, Nos Leukemic Plasma Cell Plasma Cell Leukaemia Without Mention Of Remission
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
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Lung Cancer Susceptibility 3	Lung Adenocarcinoma Adenocarcinoma Of Lung LNCR3 Adenocarcinoma Of Lung, Susceptibility To Bronchogenic Lung Adenocarcinoma Nonsmall Cell Adenocarcinoma Adenocarcinoma Lung Lung Adenocarcinomas Non-Small Cell Adenocarcinoma
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
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
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Bladder Transitional Cell Papilloma	Bladder Papilloma Transitional Cell Papilloma Of Bladder Urinary Bladder Urothelial Papilloma Urothelial Papilloma Bladder Urothelial Papilloma
Chondrosarcoma	Cartilaginous Cancer Chondrosarcoma Of Bone Primary Chondrosarcoma Of The Bone CHDSA
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Sarcomatoid Transitional Cell Carcinoma	Transitional Cell Carcinoma, Sarcomatoid Transitional Spindle Cell Carcinoma Transitional Cell Carcinoma, Spindle Cell
Osteochondroma	Cartilaginous Exostosis
Achondrogenesis	Achondrogenesis Syndrome
Spermatocytoma	Spermatocytic Seminoma
Transitional Cell Carcinoma	Transitional Cell Neoplasm Carcinoma, Transitional Cell Transitional Carcinoma Transitional Cell Tumor Urothelial Cell Carcinoma Carcinoma Transitional Cell Transitional Cell Carcinoma Of Bladder
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Hepatoblastoma
Ureter, Cancer Of	Ureter Carcinoma Ureter Cancer Ureteral Neoplasms Malignant Neoplasm Of Ureter Malignant Tumour Of Ureter Malignant Ureteral Tumor Ureteral Carcinoma Ureteral Neoplasm
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
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
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
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
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
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
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Cherubism	CRBM Familial Benign Giant-Cell Tumor Of The Jaw Familial Fibrous Dysplasia Of Jaw Familial Multilocular Cystic Disease Of The Jaws
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Bone Development Disease
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Testicular Germ Cell Tumor	Male Germ Cell Tumor Testicular Teratoma TGCT Mgct Male Germ Cell Tumor, Somatic Spermatocytic Seminoma, Somatic Embryonal Cell Carcinoma Seminoma Spermatocytic Seminoma Germ Cell Tumors, Somatic Testicular Tumor, Somatic Non-Seminomatous Germ Cell Tumor Of Testis Non-Dysgerminomatous Germ Cell Tumor Of Testis Testicular Non Seminomatous Germ Cell Tumor Testicular Non-Dysgerminomatous Germ Cell Tumor Teratoma Of The Testis Endodermal Sinus Tumor Nonseminomatous Germ Cell Tumors Teratoma Testicular Germ Cell Tumor, Somatic Embryonal Carcinoma Cell Yolk Sac Tumor Malignant Testicular Non-Seminomatous Germ Cell Tumor Testicular Non-Seminomatous Germ Cell Tumor Teratoma Of Testis Nonseminomatous Germ Cell Tumor
Thanatophoric Dysplasia, Type Ii	TD2 Thanatophoric Dysplasia With Kleeblattschaedel Cloverleaf Skull With Thanatophoric Dwarfism Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull Thanatophoric Dysplasia Type 2 Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome Thanatophoric Dwarfism Type 2 Thanatophoric Dwarfism-Cloverleaf Skull Syndrome Thanatophoric Dysplasia Type Ii Thanatophoric Dysplasia, Type 2 Thanatophoric Dwarfism - Cloverleaf Skull Thanatophoric Dysplasia 2
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
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
Skin Disease	Skin Diseases Abnormality Of The Skin Skin Diseases, Genetic Genodermatosis Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Humero-Spinal Dysostosis Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Familiar Ovarian Carcinoma
Testicular Spermatocytic Seminoma	Spermatocytic Seminoma
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Hemifacial Hyperplasia	Facial Asymmetry Hemifacial Hypertrophy Facial Hemihypertrophy Asymmetric Face
Chronic Inflammation Of Lacrimal Passage
Chiari Malformation
Epidermolytic Nevus	Epidermolytic Epidermal Nevus Epidermal Nevus With Epidermolytic Hyperkeratosis Epidermolytic Verrucous Epidermal Nevus
Exophthalmos	Proptosis
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Isolated Growth Hormone Deficiency Type Ia Primordial Dwarfism Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
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
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]
Germ Cell Tumor
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Acanthoma
Monoclonal Gammopathy Of Uncertain Significance	Monoclonal Gammopathy Of Undetermined Significance Mgus Mgus - [Monoclonal Gammopathy Of Undetermined Significance] Monoclonal Gammopathy Nos Iga Gammopathy Monoclonal Gammoglobulinopathy
Squamous Blepharitis
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
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
Bladder Papillary Transitional Cell Neoplasm	Urinary Bladder Papillary Urothelial Neoplasm Bladder Papillary Urothelial Neoplasm
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Acanthosis Nigricans	Keratosis Nigricans An
Papilloma	Papillomatosis
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
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Cervical Cancer	Cervical Cancer, Somatic Neoplasm Of Uterine Cervix Cervix Cancer Uterine Cervical Neoplasm Cervical Neoplasm Cervix Uteri Cancer Tumor Of The Cervix Uteri CERCA Uterine Cervical Cancer Neoplasms Cervical Uterine Cervical Neoplasms Cervical Cancers Cancer, Cervical, Somatic Malignant Tumor Of Cervix Cervix Carcinoma
Plagiocephaly	Asymmetric Head Lateral Curvatures Of Skull Unequal Unicoronal Synostosis
Cheilitis
Non-Invasive Bladder Papillary Urothelial Neoplasm	Bladder Papillary Neoplasm Of Low Malignant Potential Bladder Punlmp Papillary Urothelial Neoplasm Of Low Malignant Potential Papillary Transitional Cell Neoplasm Of Low Malignant Potential
Giant Cell Glioblastoma	Monstrocellular Sarcoma
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
Smoldering Myeloma
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
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
Testicular Germ Cell Cancer	Germ Cell Tumor Of Testis Testicular Germ Cell Tumor Testicular Germ Cell Neoplasm Testicular Malignant Germ Cell Tumor
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Catshl Syndrome CATSHLS
Fgfr3-Related Chondrodysplasia
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Crouzon Syndrome With Acanthosis Nigricans	Crouzon Syndrome-Acanthosis Nigricans Syndrome CAN Crouzonodermoskeletal Syndrome Crouzon-Dermoskeletal Syndrome Crouzon, With Acanthosis Nigricans Syndrome
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill
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
Brachydactyly
Cervix Carcinoma	Cancer Of Cervix Carcinoma Of Cervix Carcinoma Cervix Uteri Carcinoma Of The Cervix Uteri
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Catshl Syndrome Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
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
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
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Teratoma	Teratomas
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Ureteral Benign Neoplasm	Neoplasm Of Ureter Ureteral Tumor Cancer Of The Ureter Malignant Tumour Of Ureter Ureteric Cancer Primary Malignant Neoplasm Of Ureter
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
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Luteoma	Leuteoma Of Pregnancy Luteoma Of Pregnancy
Myeloma, Multiple	Multiple Myeloma Kahler Disease Myelomatosis Plasma Cell Myeloma Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler'S Disease Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Cutaneous Ganglioneuroma	Ganglioneuroma Of Skin
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Polyhydramnios
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
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Rhabdomyosarcoma
Keratosis	Actinic Keratosis Hyperkeratosis
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Non-Syndromic Bicoronal Craniosynostosis	Isolated Bicoronal Craniosynostosis Isolated Brachycephaly Non-Syndromic Bilateral Coronal Suture Synostosis
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
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
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
Proteus Syndrome	Proteus Syndrome, Somatic Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly Wiedemann'S Syndrome Hemihypertrophy And Macrocephaly Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly Ps PROTEUSS Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
Osteochondrodysplasia	Chondrodystrophy Skeletal Dysplasia Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Peripheral T-Cell Lymphoma	Lymphoma T-Cell Peripheral
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Huntington Disease	Huntington'S Disease Huntington Chorea HD Huntington'S Chorea Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
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
Chondroblastoma	Chondroblastoma Of Bone
Gastric Cancer	Stomach Cancer Stomach Carcinoma Gastric Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Breast Juvenile Papillomatosis	Juvenile Papillomatosis Of The Breast
Dysostosis	Dysostoses
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Melanoacanthoma
Orofacial Cleft	Cleft, Orofacial
Dowling-Degos Disease 1	Reticular Pigment Anomaly Of Flexures DDD1 Ddd Dowling-Degos Disease Hyperpigmentation
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
Synostosis

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-174981	LC-MF-4	Degrader	98.05%	Unkown
HY-184598	CYB-5067	Degrader	/	Unkown
HY-181752	FGFR3-IN-12	Inhibitor	/	Unkown
HY-183780	FGFR-IN-27	Inhibitor	/	Unkown
HY-160013	FGFR-IN-12	Inhibitor	/	Unkown
HY-184250	FGFR-IN-28	Inhibitor	/	Unkown

Inhibitory Antibodies (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P991106	IMC-D11	Inhibitor	98.51%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FGFR3	RGD	RGD:620714
Canis familiaris	FGFR3	VGNC	VGNC:40860
Felis catus	FGFR3	VGNC	VGNC:78496
Bos taurus	FGFR3	VGNC	VGNC:50180
Macaca mulatta	FGFR3	VGNC	VGNC:72653
Mus musculus	FGFR3	MGD	MGI:95524
Others	FGFR3	NCBI