PTPN11 - protein tyrosine phosphatase non-receptor type 11 Gene

Also Known as CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5781

About PTPN11

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:112,418,947-112,509,918 (from NCBI)

This gene has 16 transcripts (splice variants), 209 orthologues, 35 paralogues and is associated with 124 phenotypes. Ubiquitous expression in brain (RPKM 42.2), fat (RPKM 37.5) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the protein tyrosine Phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

PTPN11 Products (4)

mRNA	Protein	Name
NM_001330437.2	NP_001317366.1	tyrosine-protein phosphatase non-receptor type 11 isoform 3
NM_001374625.1	NP_001361554.1	tyrosine-protein phosphatase non-receptor type 11 isoform 4
NM_002834.5	NP_002825.3	tyrosine-protein phosphatase non-receptor type 11 isoform 1
NM_080601.3	NP_542168.1	tyrosine-protein phosphatase non-receptor type 11 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cadherin binding	IPI IPI: Inferred from physical interaction	15985432	GOA
enables cell adhesion molecule binding	IPI IPI: Inferred from physical interaction	15985432	GOA
enables insulin receptor binding	IPI IPI: Inferred from physical interaction	7493946	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	26358190	GOA
enables non-membrane spanning protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	16481357	GOA
enables non-membrane spanning protein tyrosine phosphatase activity	IMP IMP: Inferred from mutant phenotype	10655584	GOA
enables phosphoprotein phosphatase activity	IDA IDA: Inferred from direct assay	15133037	GOA
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	11986327	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7493946	GOA
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	15985432	GOA
enables protein tyrosine phosphatase activity	EXP EXP: Inferred from Experiment	22759635	GOA
enables protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	15133037	GOA
enables protein tyrosine phosphatase activity	IMP IMP: Inferred from mutant phenotype	10206955	GOA
enables signaling receptor complex adaptor activity	IPI IPI: Inferred from physical interaction	7493946	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERBB signaling pathway	IDA IDA: Inferred from direct assay	15133037	GOA
involved in atrioventricular canal development	IMP IMP: Inferred from mutant phenotype	12058348	GOA
involved in brain development	IMP IMP: Inferred from mutant phenotype	11704759	GOA
involved in cellular response to epidermal growth factor stimulus	IMP IMP: Inferred from mutant phenotype	28074573	GOA
involved in ephrin receptor signaling pathway	IDA IDA: Inferred from direct assay	10655584	GOA
involved in face morphogenesis	IMP IMP: Inferred from mutant phenotype	11704759	GOA
involved in fibroblast growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16481357	GOA
involved in genitalia development	IMP IMP: Inferred from mutant phenotype	12058348	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	12058348	GOA
involved in inner ear development	IMP IMP: Inferred from mutant phenotype	12058348	GOA
involved in negative regulation of type I interferon production	IDA IDA: Inferred from direct assay	26358190	GOA
involved in peptidyl-tyrosine dephosphorylation	IDA IDA: Inferred from direct assay	15133037	GOA
involved in peptidyl-tyrosine dephosphorylation	IMP IMP: Inferred from mutant phenotype	10655584	GOA
involved in positive regulation of D-glucose import	IDA IDA: Inferred from direct assay	7493946	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	28074573	GOA
involved in positive regulation of insulin receptor signaling pathway	IDA IDA: Inferred from direct assay	7493946	GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation	IMP IMP: Inferred from mutant phenotype	26706435	GOA
involved in regulation of cell adhesion mediated by integrin	IMP IMP: Inferred from mutant phenotype	10655584	GOA
involved in regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	7493946	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10940933	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15133037	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	17562706	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

PTPN11 Protein Structure

SH2

Y_phosphatase

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
tyrosine-protein phosphatase non-receptor type 11	SH2 domain-containing protein tyrosine phosphatase 2

PTPN11 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTPN11	Q06124	MET	Homo sapiens	P08581	FPS	24728074
Intra	PTPN11	Q06124	FRS2	Homo sapiens	Q8WU20	Far-WB	9632781
Intra	PTPN11	Q06124	FRS2	Homo sapiens	Q8WU20	Lumier	29997244
Intra	PTPN11	Q06124	FRS2	Homo sapiens	Q8WU20	BRET	29997244
Intra	PTPN11	Q06124	KIT	Homo sapiens	P10721	FPS	24728074
Intra	PTPN11	Q06124	CCKBR	Homo sapiens	P32239	Anti Tag CoIP	16963136
Intra	PTPN11	Q06124	CCKBR	Homo sapiens	P32239	Pull Down	16963136
Intra	PTPN11	Q06124	CCKBR	Homo sapiens	P32239	SPR	16963136
Intra	PTPN11	Q06124	EGFR	Homo sapiens	P00533	Ub Reconstruction	28065597
Intra	PTPN11	Q06124	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	PTPN11	Q06124	CD33	Homo sapiens	P20138	Anti Bait CoIP	17947393
Intra	PTPN11	Q06124	CD33	Homo sapiens	P20138	CoIP	10206955
Intra	PTPN11	Q06124	CD33	Homo sapiens	P20138	Pull Down	10206955
Intra	PTPN11	Q06124	GRB2	Homo sapiens	P62993	Anti Bait CoIP	20473329
Intra	PTPN11	Q06124	PDCD1	Homo sapiens	Q15116	Confocal	28046066
Intra	PTPN11	Q06124	PDCD1	Homo sapiens	Q15116	CoIP	15240681
Intra	PTPN11	Q06124	INSR	Homo sapiens	P06213	Pull Down	7493946
Intra	PTPN11	Q06124	INSR	Homo sapiens	P06213	Pull Down	9593725
Intra	PTPN11	Q06124	IGF1R	Homo sapiens	P08069	Ub Reconstruction	28065597
Intra	PTPN11	Q06124	IRS1	Homo sapiens	P35568	SPR	7513703
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	CoIP	12855672
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	Anti Tag CoIP	11323411
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	CoIP	11323411
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	Phosphatase Assay	20308328
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	Anti Bait CoIP	14701753
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	Far-WB	11323411
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	FPS	24728074
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	Anti Bait CoIP	20473329
Intra	PTPN11	Q06124	GAB1	Homo sapiens	Q13480	SPR	11453982
Intra	PTPN11	Q06124	AR	Homo sapiens	P10275	FPS	24728074
Intra	PTPN11	Q06124	ERBB2	Homo sapiens	P04626	Ub Reconstruction	28065597
Intra	PTPN11	Q06124	ERBB2	Homo sapiens	P04626	Protein Array	16273093
Intra	PTPN11	Q06124	PDGFRB	Homo sapiens	P09619	Anti Tag CoIP	12614164
Intra	PTPN11	Q06124	PDGFRB	Homo sapiens	P09619	Experimental Interac	8183548
Intra	PTPN11	Q06124	PDGFRB	Homo sapiens	P09619	Enzymatic Study	8119896
Intra	PTPN11	Q06124	PDGFRB	Homo sapiens	P09619	Affinity Techniques	12614164
Intra	PTPN11	Q06124	EPHA2	Homo sapiens	P29317	Ub Reconstruction	28065597
Intra	PTPN11	Q06124	PXN	Homo sapiens	P49023	Anti Bait CoIP	14665621
Intra	PTPN11	Q06124	DDR1	Homo sapiens	Q08345	Anti Bait CoIP	16337946
Intra	PTPN11	Q06124	DDR1	Homo sapiens	Q08345	CoIP	16337946
Intra	PTPN11	Q06124	PECAM1	Homo sapiens	P16284	Pull Down	9774457
Intra	PTPN11	Q06124	TRIM32	Homo sapiens	Q13049	Y2H Array	31515488
Intra	PTPN11	Q06124	TRIM32	Homo sapiens	Q13049	Y2H Prey Pooling	25416956
Intra	PTPN11	Q06124	TRIM32	Homo sapiens	Q13049	Y2H Array	25416956
Intra	PTPN11	Q06124	TRIM32	Homo sapiens	Q13049	Validated Y2H	25416956
Intra	PTPN11	Q06124	RPIA	Homo sapiens	P49247	Y2H Array	25416956
Intra	PTPN11	Q06124	KIR2DL3	Homo sapiens	P43628	SPR	8648092
Intra	PTPN11	Q06124	KIR2DL3	Homo sapiens	P43628	Pull Down	8648092
Intra	PTPN11	Q06124	MPZL1	Homo sapiens	O95297	Anti Bait CoIP	9792637
Intra	PTPN11	Q06124	MPZL1	Homo sapiens	O95297	CoIP	10681522
Intra	PTPN11	Q06124	GAB2	Homo sapiens	Q9UQC2	Pull Down	15170389
Cross	PTPN11	Q06124	Irs1	Rattus norvegicus	P35570	Far-WB	10660596
Cross	PTPN11	Q06124	Irs1	Rattus norvegicus	P35570	Pull Down	7504175
Cross	PTPN11	Q06124	Irs1	Rattus norvegicus	P35570	Phosphatase Assay	10660596
Cross	PTPN11	Q06124	EEF1A2	Oryctolagus cuniculus	Q71V39	Pull Down	17936057
Cross	PTPN11	Q06124	EEF1A1	Oryctolagus cuniculus	P68105	Pull Down	17936057
Cross	PTPN11	Q06124	Sirpa	Rattus norvegicus	P97710	Pull Down	9535915

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PTPN11 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700618	SHP-2 Protein, Human (T253M, Q257L, His)	Q06124-2 (T2-R593, T253M, Q257L)	≥ 90%, as determined by reducing SDS-PAGE.

PTPN11 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81898	SHP2 Antibody (YA1643)	WB, IHC-P, IP	Human
HY-P81898A	SHP2 Antibody (YA1643)(PBS only)	WB, IHC-P, IP	Human
HY-P84492	SHP2 Antibody (YA4189)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84492A	SHP2 Antibody (YA4189)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P86320	SH-PTP2 Antibody (YA6012)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Metachondromatosis	METCDS MC
Leopard Syndrome 1	LPRD1 Noonan Syndrome With Multiple Lentigines 1 Lentiginosis, Cardiomyopathic Multiple Lentigines Syndrome Leopard Syndrome, Type 1 Leopard Syndrome Multiple Lentigines
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
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
Tricuspid Valve Insufficiency	Tricuspid Regurgitation Tricuspid Valve Regurgitation Tricuspid Incompetence Tr - [Tricuspid Regurgitation] Tricuspid Valve Incompetency Tricuspid Valve Annular Incompetency
Noonan Syndrome 3	NS3 Noonan Syndrome, Type 3
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	NSLL Cbl Syndrome Noonan Syndrome-Like Disorder With Juvenile Myelomonocytic Leukemia Cbl Mutation-Associated Syndrome Noonan Syndrome-Like Disorder With Jmml
Atrial Septal Defect 2	ASD2 Atrial Heart Septal Defect 2 Atrial Septal Defect-2 Asd Ii Septal Defect, Atrial, Type 2
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Epicanthus
Pseudo-Turner Syndrome	Noonan Syndrome
Scoliosis
Noonan Syndrome And Noonan-Related Syndrome
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Specific Learning Disability	Specific Learning Difficulty Specific Learning Disorder
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Lentigines	Lentigo
Pulmonary Valve Stenosis	Valvular Pulmonary Stenosis Heart Valve Pulmonary Stenosis Valvar Pulmonary Stenosis Valvate Pulmonary Stenosis Pulmonary Stenosis Pulmonary Valve Stricture Pulmonic Valve Stenosis Ps - [Pulmonary Valve Stenosis] Pvs - [Pulmonary Valve Stenosis] Pulmonary Valvular Stricture Pulmonary Valvular Stenosis Pulmonary Valvular Obstruction Pulmonary Valve Obstruction Obstructed Pulmonary Valve
Pigmented Villonodular Synovitis	Diffuse Giant Cell Tumor Of Tenosynovium Villous Tenosynovitis Diffuse Pigmented Villonodular Synovitis Diffuse-Type Gct Diffuse-Type Giant Cell Tumor Localized Pigmented Villonodular Synovitis Tgct Tsgct Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumors Synovitis Pigmented Villonodular Synovitis, Pigmented Villonodular Fibrous Histiocytoma Of Tendon Sheath Testicular Germ Cell Tumor Chronic Haemorrhagic Villous Synovitis Pvns - [Pigmented Villonodular Synovitis] Villonodular Synovitis
Neurofibromatosis-Noonan Syndrome	NFNS Neurofibromatosis Type 1 Neurofibromatosis With Noonan Phenotype Nf1 Von Recklinghausen Disease Neurofibromatosis Type 1-Noonan Syndrome Noonan Neurofibromatosis Syndrome Recklinghausen'S Disease Noonan-Neurofibromatosis Syndrome Fibromatosis Multiple Non Ossifying Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots Jaffe Campanacci Syndrome Type 1 Neurofibromatosis Neurofibromatosis 1 Peripheral Neurofibromatosis Recklinghausen Disease, Nerve Jaffe-Campanacci Syndrome
Acute Megakaryoblastic Leukemia In Down Syndrome	Ds-Amkl
Werner Syndrome	Werner'S Syndrome WRN Adult Progeria Ws Adult Premature Ageing Syndrome Adult Premature Aging Syndrome Werners Syndrome
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Histiocytic Sarcoma	Malignant Histiocytosis
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Villonodular Synovitis	Pigmented Villonodular Synovitis
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
Lymphoproliferative Syndrome	Lymphoproliferative Disorder Lymphoproliferative Disorders Lymphoproliferative Disorders, Susceptibility To
Myelodysplastic/Myeloproliferative Neoplasm	Myelodysplastic-Myeloproliferative Diseases Myelodysplastic/Myeloproliferative Disease Myelodysplastic Myeloproliferative Cancer Myelodysplastic Myeloproliferative Disease Myeloproliferative/Myelodysplastic Syndromes
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Neurofibromatosis	Neurofibromatoses Acoustic Neurofibromatosis Central Neurofibromatosis Peripheral Neurofibromatosis Recklinghausen'S Neurofibromatosis Von Reklinghausen Disease Neurofibromatosis Type 1
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple 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]
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
Cherubism	CRBM Familial Benign Giant-Cell Tumor Of The Jaw Familial Fibrous Dysplasia Of Jaw Familial Multilocular Cystic Disease Of The Jaws
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Pulmonary Valve Disease	Pulmonary Valve Disorder
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Neutropenia	Leukopenia
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
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]
Skin Granular Cell Tumor	Granular Cell Neoplasm Of The Skin Granular Cell Tumor Of Skin Granular Cell Tumour Of Skin Skin Granular Cell Tumour
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 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
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	GDACCF Developmental Disabilities
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Mazzanti Syndrome NSLH1 Nslh Tosti Syndrome Noonan Syndrome-Like With Loose Anagen Hair 1 Noonan Syndrome-Like Disorder With Loose Anagen Hair
Dengue Hemorrhagic Fever	Severe Dengue Dengue Haemorrhagic Fever Dhf Severe Dengue Haemorrhagic Fever Severe Dengue Fever Dengue Shock Syndrome
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
Ganglioneuroma
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer 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
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
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair Mazzanti Syndrome Ns/Lah
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast 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
Rhabdomyosarcoma
Pulmonic Stenosis	Valvular Pulmonic Stenosis Congenital Pulmonary Valvar Stenosis Congenital Stenosis Of Pulmonary Valve Pulmonary Valve Stenosis Pulmonary Stenosis Congenital Pulmonary Valve Stricture Congenital Pulmonary Valve Stenosis
Atrophic Gastritis	Gastritis, Atrophic Gastric Atrophy Gastritis Atrophic
Polycythemia Vera	PV Polycythemia Rubra Vera Prv Osler-Vaquez Disease Chronic Erythremia Polycythaemia Rubra Vera Primary Polycythemia Vaquez Disease Polycythemia Vera, Somatic Osler-Vaquez Syndrome Proliferative Polycythaemia Polycythemia Ruba Vera Acquired Primary Erythrocytosis Heilmeyer-Schoner Disease Vaquez Osler Disease Primary Polycythaemia
Cystic Lymphangioma	Cystic Hygroma Cavernous Lymphangioma Macrocystic Lymphatic Malformation Cavernous Lymphatic Malformation Macrocystic Lymphangioma Lymphangioma, Cystic
Dengue Disease	Dengue Fever Dengue Df Dengue Shock Syndrome Dengue Virus Infection Breakbone Fever Classic Dengue Classical Dengue Dengue Hemorrhagic Fever Hemorrhagic Dengue Philippine Hemorrhagic Fever Singapore Hemorrhagic Fever Thai Hemorrhagic Fever Severe Dengue Dengue Fever Without Warning Signs Dengue Haemorrhagic Fever Grade 1 Dengue Haemorrhagic Fever Without Warning Signs Bangkok Haemorrhagic Fever Singapore Haemorrhagic Fever Thailand Haemorrhagic Fever Southeast Asia Haemorrhagic Fever Dhf -[Dengue Haemorrhagic Fever] Dengue Fever With Warning Signs Dengue Haemorrhagic Fever With Warning Signs Dengue Haemorrhagic Fever Grade 2 Philippine Haemorrhagic Fever
Hematologic Cancer	Hematologic Neoplasm Hematologic Neoplasms Hematologic Malignancies Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Keratosis Pilaris Atrophicans Faciei
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
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 Carcinoma, Hepatocellular 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
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
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Childhood Leukemia
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach 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
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Viral Infectious Disease	Viral Disease Arbovirus Infections Virus Infection Virus Diseases Viral Infection Viral Infections Virus Infections
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Body Dysmorphic Disorder	Dysmorphophobia Body Dysmorphia Dysmorphic Syndrome Body Dysmorphic Disorders
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Crisponi/Cold-Induced Sweating Syndrome 2	Cold-Induced Sweating Syndrome 2 CISS2 Sweating Syndrome, Cold-Induced, Type 2
Myeloproliferative Syndrome, Transient	Transient Abnormal Myelopoiesis Transient Myeloproliferative Syndrome Transient Myeloproliferative Disease Mst Tam Leukemia, Transient, Of Down Syndrome Tmd Leukemia, Transient Transient Leukemia Transient Leukemia Of Down Syndrome
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
Testicular Spermatocytic Seminoma	Spermatocytic Seminoma
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness 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 Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
Cowden Syndrome 6	CWS6 Cowden Syndrome, Type 6
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
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
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
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 Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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 (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101964	SPI-112	Inhibitor	98.01%	Unkown
HY-131132	JAB-3068	Inhibitor	99.49%	Unkown
HY-131132A	JAB-3068 hydrochloride	Inhibitor	98.88%	Unkown
HY-114460	SHP2-IN-1	Inhibitor	≥99.0%	Unkown
HY-120159	GS-493	Inhibitor	/	Unkown
HY-125257	SHP2 inhibitor LY6		/	Unkown
HY-125259	SHP504	Inhibitor	/	Unkown
HY-RS11416	PTPN11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16733	Ptpn11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23169	Ptpn11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PTPN11	RGD	RGD:3447
Bos taurus	PTPN11	VGNC	VGNC:33530
Canis familiaris	PTPN11	VGNC	VGNC:45168
Mus musculus	PTPN11	MGD	MGI:99511
Felis catus	PTPN11	VGNC	VGNC:69158
Macaca mulatta	PTPN11	VGNC	VGNC:100095
Others	PTPN11	NCBI