PIK3CA - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Gene

Also Known as MCM; CCM4; CWS5; MCAP; PI3K; CLAPO; CLOVE; MCMTC; PI3K-alpha; p110-alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5290

About PIK3CA

Cytogenetic location: 3q26.32 Genomic coordinates (GRCh38): 3:179,148,126-179,240,093 (from NCBI)

This gene has 10 transcripts (splice variants), 275 orthologues, 9 paralogues and is associated with 271 phenotypes. Ubiquitous expression in fat (RPKM 10.3), gall bladder (RPKM 7.8) and 25 other tissues.

Summary

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

PIK3CA Products (2)

mRNA	Protein	Name
NM_006218.4	NP_006209.2	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
XM_006713658.5	XP_006713721.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables 1-phosphatidylinositol-3-kinase activity	IDA IDA: Inferred from direct assay	2174051	GOA
enables 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IDA IDA: Inferred from direct assay	28676499	GOA
enables kinase activity	IDA IDA: Inferred from direct assay	25327288	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10490823	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cellular response to insulin stimulus	IDA IDA: Inferred from direct assay	24529379	GOA
involved in negative regulation of anoikis	IMP IMP: Inferred from mutant phenotype	22402981	GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI IGI: Inferred from genetic interaction	30496354	GOA
acts upstream of or within phosphorylation	IDA IDA: Inferred from direct assay	25327288	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI IGI: Inferred from genetic interaction	30496354	GOA
involved in positive regulation of protein localization to membrane	IDA IDA: Inferred from direct assay	28676499	GOA
involved in vascular endothelial growth factor signaling pathway	IGI IGI: Inferred from genetic interaction	30496354	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of phosphatidylinositol 3-kinase complex, class IA	IDA IDA: Inferred from direct assay	22402981	GOA
part of phosphatidylinositol 3-kinase complex, class IA	IPI IPI: Inferred from physical interaction	19805105	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

PIK3CA Protein Structure

PI3K_p85B

PI3K_rbd

PI3K_C2

PI3Ka

PI3_PI4_kinase

0
200
400
600
800
1000
1068 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	PI3-kinase p110 subunit alpha mutant phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha phosphatidylinositol 3-kinase, catalytic, alpha polypeptide phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha phosphoinositide 3-kinase alpha phosphoinositide-3-kinase, catalytic, alpha polypeptide ptdIns-3-kinase subunit p110-alpha serine/threonine protein kinase PIK3CA

PIK3CA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PIK3CA	P42336	PIK3R2	Homo sapiens	O00459	Anti Tag CoIP	34591642
Intra	PIK3CA	P42336	PIK3R2	Homo sapiens	O00459	Anti Tag CoIP	34591612
Intra	PIK3CA	P42336	PIK3R2	Homo sapiens	O00459	Anti Bait CoIP	22402981
Intra	PIK3CA	P42336	PIK3R2	Homo sapiens	O00459	Anti Tag CoIP	26496610
Intra	PIK3CA	P42336	PIK3R2	Homo sapiens	O00459	Anti Bait CoIP	25253337
Intra	PIK3CA	P42336	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	PIK3CA	P42336	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	PIK3CA	P42336	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	PIK3CA	P42336	IRS1	Homo sapiens	P35568	Anti Tag CoIP	34591612
Intra	PIK3CA	P42336	IRS1	Homo sapiens	P35568	Anti Tag CoIP	23643389
Intra	PIK3CA	P42336	IRS1	Homo sapiens	P35568	Anti Tag CoIP	34591642
Intra	PIK3CA	P42336	IRS1	Homo sapiens	P35568	Anti Bait CoIP	23643389
Intra	PIK3CA	P42336	IRS1	Homo sapiens	P35568	Pull Down	23643389
Intra	PIK3CA	P42336	ERBB3	Homo sapiens	P21860	Anti Tag CoIP	34591642
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Bait CoIP	23643389
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Phosphotransferase	23643389
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Tag CoIP	23643389
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Bait CoIP	16043515
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Tag CoIP	34591612
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	X-Ray Diffraction	18079394
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Pull Down	19805105
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Tag CoIP	34591642
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Bait CoIP	25253337
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	X-Ray Diffraction	19805105
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Tag CoIP	19574958
Intra	PIK3CA	P42336	PIK3R1	Homo sapiens	P27986	Anti Bait CoIP	22402981
Intra	PIK3CA	P42336	PIK3R3	Homo sapiens	Q92569	Anti Tag CoIP	34591642
Intra	PIK3CA	P42336	PIK3R3	Homo sapiens	Q92569	Anti Tag CoIP	34591612
Intra	PIK3CA	P42336	PIK3R3	Homo sapiens	Q92569	Anti Bait CoIP	22402981
Intra	PIK3CA	P42336	PIK3R3	Homo sapiens	Q92569	Anti Tag CoIP	26496610
Intra	PIK3CA	P42336	PIK3R3	Homo sapiens	Q92569	Y2H Array	25814554
Intra	PIK3CA	P42336	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	PIK3CA	P42336	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	PIK3CA	P42336	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	PIK3CA	P42336	ATXN3	Homo sapiens	P54252	Y2H Pooling	32814053
Intra	PIK3CA	P42336	ATXN3	Homo sapiens	P54252	Validated Y2H	32814053
Intra	PIK3CA	P42336	ATXN3	Homo sapiens	P54252	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

PIK3CA Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810808	PI3K p110 alpha (H1047R) Antibody (YA10051)	WB, IHC-P, ICC/IF	Human
HY-P81162	PI3 Kinase p110 alpha/PIK3CA Antibody (YA3537)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P81162A	PI3 Kinase p110 alpha/PIK3CA Antibody (PBS only)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P86078	PI3 Kinase p110 alpha/PIK3CA Antibody (YA5770)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mucinous Adenocarcinoma	Mucin-Producing Adenocarcinoma Mucin-Secreting Adenocarcinoma Mucin-Secreting Carcinoma Mucous Carcinoma Pseudomyxoma Peritonei With Unknown Primary Site Adenocarcinoma, Mucinous
Chromophobe Renal Cell Carcinoma	Chromophobe Adenocarcinoma Chromophobe Carcinoma Of Kidney Kidney Chromophobe Renal Cell Carcinoma, Chromophobe Cell Crcc Chrcc Chromophobe Renal Cell Adenocarcinoma Chromophobe Renal Carcinoma Chromophobe Carcinoma
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Erdheim-Chester Disease	Ecd Erdheim Chester Disease Lipoid Granulomatosis Lipid Granulomatosis Polyostotic Sclerosing Histiocytosis
Ovarian Clear Cell Adenocarcinoma
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
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
Uterine Carcinosarcoma	Carcinosarcoma Of The Corpus Uteri Mixed Mullerian Sarcoma Of Uterus Malignant Mixed Müllerian Tumor Of The Corpus Uteri Malignant Mixed Müllerian Tumor Of Corpus Uteri Mixed Müllerian Cancer Of Corpus Uteri Malignant Mixed Mullerian Tumor Of The Corpus Uteri Mixed Mullerian Cancer Of Corpus Uteri Uterine Corpus Carcinosarcoma
Anus Basaloid Carcinoma	Basaloid Carcinoma Of The Anus Anal Basaloid Carcinoma
Cowden Syndrome 1	Pten Hamartoma Tumor Syndrome Bannayan-Riley-Ruvalcaba Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Lhermitte-Duclos Syndrome Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Pancreatic Cancer	Pancreatic Carcinoma Familial Pancreatic Carcinoma Pancreatic Neoplasm Carcinoma Of Pancreas Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Cancer Of The Pancreas Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Lobular Neoplasia	Lobular Carcinoma In Situ Lobular Carcinoma In Situ Of Breast Lobular Intraepithelial Neoplasia Non-Infiltrating Lobular Carcinoma Noninfiltrating Lobular Carcinoma Unspecified Site Noninfiltrating Lobular Carcinoma Of Breast Lobular Carcinoma In Situ Unspecified Site
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
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
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cloves Syndrome Clove Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities Clove Syndrome, Somatic Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome CLOVE Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities Congenital Arteriovenous Malformation Arteriovenous Hemangioma Nevus Melanocytic Nevus Benign Melanocytic Nevus
Ovary Adenocarcinoma	Ovarian Adenocarcinoma Adenocarcinoma Of The Ovary Ovarian Adenoacanthoma Adenocarcinoma Of Ovary
Angiolipoma
Sturge-Weber Syndrome	SWS Encephalotrigeminal Angiomatosis Encephalofacial Angiomatosis Sturge-Weber-Dimitri Syndrome Sturge-Weber-Krabbe Syndrome Fourth Phacomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Weber-Krabbe Angiomatosis Sturge-Weber Syndrome, Somatic, Mosaic Sws Type I - Facial And Leptomeningeal Angiomas Sws Type Ii - Facial Angioma Alone, No Cns Involvement Sws Type Iii - Isolated Leptomeningeal Angiomas Sturge Weber Syndrome Angiomatosis Aculoorbital-Thalamic Syndrome Encephalofacial Hemangiomatosis Encephalofacial Hemangiomatosis Syndrome Meningo-Oculo-Facial Angiomatosis Meningofacial Angiomatosis-Cerebral Calcification Syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber Weber-Sturge-Dimitri Syndrome
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Macrodactyly	Macrodactyly, Somatic Congenital Macrodactylia Megalodactyly MADAC Type I Macrodactyly
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
Penile Cancer	Penis Carcinoma Penile Neoplasm Penile Carcinoma Penile Neoplasms Malignant Neoplasm Of Penis Ca Penis Malignant Neoplasm Of Body Of Penis Malignant Penile Tumor Penile Ca Carcinoma Of Penis
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
Hypertrophy Of Breast	Breasts Enlarged Large Breast Hypertrophy Of Breast Nos Hypertrophy Of Male Breast Hypertrophic Breast Excessive Development Of Breast Macromastia Mastoplastia
Pik3ca-Related Overgrowth Spectrum	Pik3ca Related Overgrowth Spectrum Pros Pik3ca-Associated Segmental Overgrowth Pro
Pleomorphic Carcinoma
Penile Benign Neoplasm	Neoplasm Of Penis Penile Tumor Cancer Of Penis Carcinoma Of Penis Malignant Neoplasm Of Penis, Unspecified Malignant Neoplasm Of Penis, Part Unspecified Malignant Tumour Of Penis Penile Cancer Primary Malignant Neoplasm Of Penis Malignant Neoplasm Of Skin Of Penis Nos
Ethmoid Sinus Adenocarcinoma	Adenocarcinoma Of Ethmoid Sinus Adenocarcinoma Of The Ethmoid Sinus
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
In Situ Carcinoma	Carcinoma In Situ
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Leukemia, Myeloid, Acute Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Cowden Syndrome 5	CWS5 Cowden Syndrome, Type 5
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Megalencephaly, Autosomal Dominant
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hhml
Ovarian Clear Cell Adenofibroma
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Ovarian Carcinosarcoma	Ovarian Malignant Mixed Mullerian Tumor Mmmt Of The Ovary Malignant Mixed Mullerian Tumor Of The Ovary Ovarian Malignant Mixed Epithelial Mesenchymal Tumor Ovarian Malignant Mesodermal Mixed Tumor Ovarian Mmmt Malignant Mixed Müllerian Tumor Of The Ovary Ovarian Malignant Mixed Müllerian Tumor Carcinosarcoma Of Ovary
Cutaneous Ganglioneuroma	Ganglioneuroma Of Skin
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Simple Partial Epilepsy	Epilepsy, Simple Partial
Exanthem	Exanthema Rash Rashes
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Human Papillomavirus Infectious Disease	Hpv Papillomavirus Infections Human Papilloma Virus Infection
Hemihyperplasia, Isolated	Hemihypertrophy Hemihyperplasia Isolated Hemihyperplasia IH Hhp Hemihypertrophy, Isolated Hemi 3 Syndrome Hemicorporal Hypertrophy Isolated Hemihypertrophy Hemi-3 Syndrome
Lung Oat Cell Carcinoma	Oat Cell Carcinoma Carcinoma Oat Cell Carcinoma, Small Cell
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
Macrodactyly Of Toes	Macrodactyly Of Foot Megalodactylism Of The Foot Megalodactyly Of The Foot Macrodactyly Of Toe Megalodactyly Of Toes
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
Nasopharyngeal Carcinoma	Malignant Neoplasm Of Nasopharynx Npc Nasopharyngeal Cancer Nasopharyngeal Carcinoma 1 Nasopharynx Carcinoma Nasopharyngeal Neoplasms Npca Carcinoma Of Nasopharynx Malignant Nasopharyngeal Tumor Nasopharynx Cancer Squamous Cell Carcinoma Of The Nasopharynx Nasopharyngeal Neoplasm Cancer Of Nasopharynx
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Cavernous Angioma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Angioosteohypertrophic Syndrome	Klippel-Trenaunay-Weber Syndrome Haemangiectatic Hypertrophy
Uterine Corpus Endometrial Carcinoma
Diffuse Lipomatosis
Colorectal Adenocarcinoma	Adenocarcinoma Of Large Intestine
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly-Capillary Malformation Syndrome MCAP Mcmtc Macrocephaly-Capillary Malformation Mcm Megalencephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Cutis Marmorata Telangiectatica Congenita Megalencephaly-Cutis Marmorata Telangiectatica Congenita Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic M-Cm Macrocephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Capillary Malformation Syndrome M-Cmtc Megalocephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome
Megalencephaly	Macroencephaly Macrencephaly
Noonan Syndrome 8	NS8 Noonan Syndrome, Type 8
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
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
Small Cell Cancer Of The Lung	Small Cell Lung Cancer Small Cell Lung Carcinoma Sclc Small-Cell Cancer Of Lung Lung Small Cell Carcinoma Sclc1 Sccl Cancer, Lung, Small Cell Small Cell Carcinoma Of Lung Carcinoma, Small Cell
Intraneural Perineurioma
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Diffuse Gastric And Lobular Breast Cancer Syndrome	Hereditary Diffuse Gastric Cancer HDGC LBC Familial Diffuse Gastric Cancer Fdgc Hereditary Diffuse Gastric Adenocarcinoma Breast Cancer, Lobular Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate DGLBC Gastric Cancer, Hereditary Diffuse Gastric Cancer, Familial Diffuse Breast Cancer, Lobular Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate E-Cadherin-Associated Hereditary Gastric Cancer Familial Diffuse Cancer Of Stomach Hereditary Diffuse Cancer Of Stomach Gastric Cancer Familial Diffuse Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate Cancer, Gastric, Hereditary Diffuse
Skin Disease	Skin Diseases Abnormality Of The Skin Skin Diseases, Genetic Genodermatosis Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Orbit Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma Of The Orbit
Acanthoma
Endometriosis Of Ovary	Ovarian Endometriosis
Cerebral Cavernous Malformations 4	CCM4 Cerebral Cavernous Malformations 4, Somatic
Anus Cancer	Anal Cancer Malignant Anal Tumor Cancer Of The Anus Malignant Neoplasm Of Anus Anal Carcinoma Anus Neoplasms
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Lung Non-Squamous Non-Small Cell Carcinoma	Non- Squamous Nsclc
Cholangiocarcinoma	Cholangiocarcinoma, Susceptibility To Extrahepatic Cholangiocarcinoma Intrahepatic Cholangiocarcinoma Chlc Chlc, Susceptibility To Cc Cholangiocarcinoma Of Biliary Tract Cholangiocellular Carcinoma Distal Cholangiocarcinoma Perihilar Cholangiocarcinoma Bile Duct Cancer Cca Adult Primary Cholangiocellular Carcinoma Bile Duct Carcinoma
Pancreatic Adenocarcinoma	Adenocarcinoma Of Pancreas Adenocarcinoma Of The Pancreas Pancreas Adenocarcinoma Malignant Exocrine Neoplasm Primary Pancreatic Adenocarcinoma Adenocarcinoma Of Islet Cell Of Pancreas Islet Cell Adenocarcinoma Of Unspecified Site Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Ovarian Clear Cell Carcinoma	Clear-Cell Ovarian Carcinoma
Hepatitis B	Chronic Hepatitis B Hepatitis B Infection Serum Hepatitis HBV Hepatitis B Chronic Hbv, Susceptibility To Hepatitis B, Chronic Chronic Hepatitis B Without Delta Agent Chronic Hbv - [Hepatitis B Virus] Infection Hepatitis B Nos Chronic Type B Viral Hepatitis Hep B Nos
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Epiglottis Neoplasm	Neoplasm Of Epiglottis Epiglottic Tumor Epiglottic Carcinoma
Giant Cell Glioblastoma	Monstrocellular Sarcoma
Esophagus Small Cell Carcinoma	Oat Cell Carcinoma Of Esophagus Oat Cell Carcinoma Of Oesophagus Oesophagus Small Cell Carcinoma Esophageal Small Cell Neuroendocrine Carcinoma
Rectum Adenocarcinoma	Rectal Adenocarcinoma Adenocarcinoma Of Rectum
Breast Ductal Carcinoma	Ductal Breast Carcinoma Duct Carcinoma Carcinoma, Ductal Mammary Ductal Carcinoma Ductal Carcinoma
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Cancer Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Hepatic Flexure Cancer	Ca Hepatic Flexure - Colon Malignant Neoplasm Of Hepatic Flexure Malignant Tumor Of Hepatic Flexure Carcinoma Of Hepatic Flexure Malignant Neoplasm Of Hepatic Flexure Of Colon
Cervical Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Cervix Uteri Squamous Cell Carcinoma Of Cervix
Hereditary Lymphedema	Milroy Disease
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Lip And Oral Cavity Cancer	Oral Cancer Lip And Oral Cavity Carcinoma Malignant Neoplasm Of Mouth
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 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
Small Intestine Cancer	Small Intestine Carcinoma Cancer Of The Small Bowel Small Bowel Cancer Small Intestinal Carcinoma Malignant Neoplasms Of The Small Intestine Small Bowel Tumors Malignant Tumor Of Small Intestine Neoplasm Of Small Intestine
Breast Lobular Carcinoma	Cancer, Breast, Lobular Lobular Breast Carcinoma
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
Glioma
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Uterine Benign Neoplasm
Breast Benign Neoplasm	Benign Tumour Of Breast Benign Neoplasm Of Female Breast
Rhabdomyosarcoma
Intraductal Papilloma	Papilloma, Intraductal Ductal Papilloma Papilloma Intraductal
Endocervical Carcinoma	Carcinoma Of Endocervix Carcinoma Of The Endocervix
Skull Base Cancer	Tumors Of Skull Base Skull Base Neoplasms
Breast Juvenile Papillomatosis	Juvenile Papillomatosis Of The Breast
Hepatitis C Virus	Hepatitis C Virus, Susceptibility To Hepatitis C Virus Infection, Response To Therapy Of Hcv Hcv, Susceptibility To Hepatitis C Virus, Resistance To Hepatitis C Virus, Response To Therapy Of Resistance To Hepatitis C Virus
High Grade Glioma	Malignant Glioma Glial Cell Tumor Glioma, Malignant Malignant Neuroglial Tumor Neuroglial Tumor Glioma Malignant Gliomas
Keratoacanthoma	Ka - [Keratoacanthoma] Well-Differentiated Squamous Cell Carcinoma
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Endometrial Serous Adenocarcinoma	Uterine Corpus Serous Adenocarcinoma Uterine Papillary Serous Carcinoma Uterine Serous Carcinoma
Ovarian Serous Cystadenocarcinoma	Serous Cystadenoma Cystadenoma Serous Cystadenoma, Serous
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Gastroesophageal Adenocarcinoma	Gastric And Esophageal Adenocarcinoma Gastro-Esophageal Adenocarcinoma
Breast Carcinoma In Situ	Carcinoma In Situ Of Breast Non-Infiltrating Carcinoma Of Breast Breast Cancer In Situ
Colitis
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
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Hemimegalencephaly	Unilateral Megalencephaly Macrencephaly
Macrodactyly Of Fingers, Unilateral	Macrodactyly Of Hand, Unilateral
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Vulva Cancer	Vulvar Carcinoma Malignant Neoplasm Of Vulva Vulva Carcinoma Carcinoma Of Vulva Vulval Cancer Vulvar Cancer Vulvar Neoplasms Ca Vulva Malignant Tumor Of Vulva Malignant Vulvar Tumor Neoplasm Of Vulva Vulval Neoplasm Vulvar Neoplasm Vulvar Tumor Cancer Of Vulva Malignant Tumour Of Vulva
Breast Adenomyoepithelioma	Adenomyoepithelioma Of The Breast Breast Adenomyoepithelioma With Malignant Change Malignant Adenomyoepithelioma Of Breast
Intraductal Breast Benign Neoplasm
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Malignant Ovarian Surface Epithelial-Stromal Neoplasm	Malignant Ovarian Surface Epithelial-Stromal Tumor
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site
Endocervical Adenocarcinoma	Endocervical Carcinoma
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Lipomatosis	Benign Symmetrical Lipomatosis
Verrucous Carcinoma	Verrucous Squamous Carcinoma Verrucous Squamous Cell Carcinoma Warty Carcinoma Carcinoma Verrucous Carcinoma, Verrucous
Adult Hepatocellular Carcinoma	Adult Primary Hepatocellular Carcinoma Adult Hepatoma Adult Hcc
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
Apocrine Adenocarcinoma	Apocrine Carcinoma Apocrine Gland Carcinoma Carcinoma Of The Apocrine Gland Carcinoma Of Apocrine Gland
Vulvar Disease	Vulvar Diseases Vulvar Disorders
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
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Keratosis, Seborrheic	Seborrheic Keratosis Keratosis, Seborrheic, Somatic Basal Cell Papilloma Keratosis Seborrheica KERSEB
Ampulla Of Vater Cancer	Ampulla Of Vater Carcinoma Ampullary Carcinoma Malignant Tumour Of Ampulla Of Vater Carcinoma Of Ampulla Of Vater Carcinoma Of The Ampulla Of Vater Ampulloma
Keratinizing Squamous Cell Carcinoma	Squamous Cell Carcinoma, Keratinizing Keratinizing Epidermoid Carcinoma
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Vaginal Carcinosarcoma	Malignant Vaginal Mixed Epithelial And Mesenchymal Tumor Vaginal Malignant Mixed Mesodermal Tumor Vaginal Malignant Mixed Mullerian Tumor Vaginal Mixed Epithelial And Mesenchymal Tumor
Reproductive Organ Benign Neoplasm
Vulva Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Vulva Vulvar Squamous Cell Carcinoma Vulvar Epidermoid Carcinoma Squamous Cell Carcinoma Of The Vulva
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Gorham'S Disease	Gorham-Stout Syndrome Osteolysis, Essential Disappearing Bone Disease Essential Osteolysis Gorham Disease Massive Osteolysis Phantom Bone Disease Cystic Angiomatosis Of Bone Diffuse Gorham-Stout Disease Osteolysis Massive Vanishing Bone Disease Massive Osteolyses
Gallbladder Cancer	Gallbladder Carcinoma Gallbladder Neoplasm Malignant Neoplasm Of Gallbladder Malignant Tumour Of Gallbladder Gallbladder Ca Localized Malignant Gallbladder Neoplasm Malignant Tumor Of The Gallbladder Tumor Of The Gallbladder Cancer Of The Gallbladder Carcinoma Gallbladder Carcinoma Of Gallbladder Gallbladder Neoplasms Malignant Neoplasm Of Gallbladder Localized Cancer Of Gallbladder Primary Malignant Neoplasm Of Gallbladder
Segmental Progressive Overgrowth Syndrome With Fibroadipose Hyperplasia
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Capillary Malformations, Congenital	Familial Multiple Nevi Flammei Nevi Flammei, Familial Multiple CMC Port-Wine Stain Capillary Malformations Cmal Familial Multiple Port-Wine Stains Capillary Malformation Capillary Malformations, Congenital, 1, Somatic, Mosaic Congenital Capillary Malformations Port-Wine Stain Familial Multiple Hereditary Capillary Malformations Capillary Malformations, Hereditary Capillary Malformations, Congenital, Type 1, Somatic, Mosaic Strawberry Nevus Of Skin Naevus Flammeus
Liposarcoma	Lipomatous Cancer
Thyroid Tumor
Ovarian Mixed Germ Cell Neoplasm	Mixed Germ Cell Tumor Of Ovary Ovarian Mixed Germ Cell Tumor
Cervix Carcinoma	Cancer Of Cervix Carcinoma Of Cervix Carcinoma Cervix Uteri Carcinoma Of The Cervix Uteri
Rosette-Forming Glioneuronal Tumor	Rgnt
Female Reproductive Endometrioid Cancer	Endometrioid Tumor Endometrioid Neoplasm Female Reproductive Endometrioid Neoplasm
Laryngeal Benign Neoplasm	Laryngeal Tumor Larynx Neoplasm Neoplasm Of Larynx Laryngeal Cancer Laryngeal Carcinoma Cancer Of Larynx
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Eec Syndrome Rudiger Syndrome 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 EEC1 Eec Syndrome 1 Eec Syndrome-1 Walker-Clodius Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Eec Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly-Cleft Lip/Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly-Cleft Lip-Palate Syndrome Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Mixed Cell Type Cancer	Malignant Mixed Neoplasm Malignant Mixed Tumor Mixed Neoplasm Mixed Tumor, Malignant Malignant Mixed Cancer Mixed Tumor Malignant Mixed Tumor, Not Otherwise Specified Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Pre-Malignant Neoplasm
Generalized Lymphatic Anomaly	Doid:0081031
Carcinosarcoma	Mixed Tumor, Mullerian Malignant Mixed Mesodermal Tumor Malignant Mixed Mullerian Tumor Mmmt Mixed Tumor, Mesodermal Mesodermal Mixed Tumor Mixed Mesodermal Tumor Mullerian Mixed Tumor Mixed Mullerian Tumor Malignant Mixed Müllerian Tumor Mixed Müllerian Tumor Mixed Tumor Mullerian Mixed Tumor, Not Otherwise Specified
Brain Stem Glioma	Brainstem Neuroglial Tumor Brainstem Glioma Glioma Of Brainstem
Bile Duct Cancer	Bile Duct Carcinoma Extrahepatic Bile Duct Carcinoma Carcinoma Of Extrahepatic Bile Duct Extrahepatic Bile Duct Cancer Bile Duct Neoplasms Bile Duct Tumor Ca Extrahepatic Bile Ducts Malignant Neoplasm Of The Extrahepatic Bile Duct Bile Duct Extrahepatic Carcinoma Malignant Tumor Of Extrahepatic Bile Duct
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Colon Adenoma	Adenomatous Polyp Of Colon
Mismatch Repair Cancer Syndrome	Turcot Syndrome Brain Tumor-Polyposis Syndrome 1 Btp1 Syndrome Btps1 Childhood Cancer Syndrome Cmmr-D Syndrome Cmmrds Constitutional Mismatch Repair Deficiency Syndrome Mmr Deficiency Cancer Syndrome, Mismatch Repair Malignant Childhood Neoplasm
Thoracic Benign Neoplasm	Benign Neoplasm Of Thorax
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Clapo Syndrome CLAPO Lopez-Gutierrez Syndrome Clapo Syndrome, Somatic
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Desmoplastic/Nodular Medulloblastoma Medulloblastoma With Extensive Nodularity Desmoplastic Medulloblastoma Medulloblastoma, Somatic Medulloblastoma, Desmoplastic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Mben Medulloblastoma Desmoplastic Neuroectodermal Tumors, Primitive Medulloblastomas Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Breast Angiosarcoma	Angiosarcoma Of The Breast Hemangiosarcoma Of The Breast Primary Angiosarcoma Of Breast
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
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]
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Rectal Benign Neoplasm	Neoplasm Of Rectum Rectal Tumor Rectum Neoplasm Neoplasm Of The Rectum Rectal Neoplasms Primary Rectal Cancer Rectal Ampulla Cancer Cancer Of The Rectum Carcinoma Of Rectum Primary Malignant Neoplasm Of Rectum Rectal Cancer Rectal Carcinoma
Rectal Disease	Rectal Diseases Rectal Disorders
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Uterine Corpus Cancer	Corpus Uteri Cancer Malignant Uterine Corpus Neoplasm
Pik3ca-Related Overgrowth Syndrome	Pros Pik3ca Related Overgrowth Syndrome
Lipomatosis, Multiple	Lipoma Familial Multiple Lipomatosis Lipomatosis, Familial Multiple Benign Lipomatous Tumor Lipomatous Neoplasm Multiple Lipomatosis Fml Lipo Benign Tumor Of Adipose Tissue Lipomatous Tumor Tumor Of Adipose Tissue Neoplasms, Adipose Tissue Lipomas
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
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
Familiar Ovarian Carcinoma
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
Wolffian Duct Adenocarcinoma	Cervical Mesonephric Adenocarcinoma
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic
Colonic Benign Neoplasm	Colon Neoplasm Colonic Mass Colonic Tumor Neoplasm Of Colon Neoplasm Of The Colon Colonic Neoplasms Colon Cancer Colon Carcinoma Nos Colonic Cancer Metastatic Colon Cancer Nos
Polymicrogyria	Pmg
Hepatitis	Chronic Hepatitis Chronic Persistent Hepatitis Acute Hepatitis Hepatitis, Chronic Acute And Subacute Liver Necrosis Acute/Subac. Necrosis Of Liver Animal Hepatitis Hepatitis Chronic Hepatitis A Hepatitis, Animal Hepatitis Due To Toxoplasmosis Hepatitis In Toxoplasmosis Toxoplasmal Hepatitis Chronic Hepatitis, Unspecified Chronic Active Hepatitis Nec Other Specified Chronic Hepatitis Chronic Persistent Hepatitis Nec Chronic Lobular Hepatitis Nec
Cellular Myxoid Liposarcoma	Round Cell Liposarcoma
Breast Myoepithelial Neoplasm	Breast Myoepithelial Tumor Malignant Breast Myoepithelioma
Clear Cell Adenofibroma	Cystadenofibroma
Ovarian Cystadenocarcinoma	Cystadenocarcinoma Of Ovary Cystadenocarcinoma Of The Ovary
Ductal Carcinoma In Situ	Noninfiltrating Intraductal Carcinoma
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
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
Skull Base Meningioma	Meningioma Of The Skull Base
Oropharynx Cancer	Oropharyngeal Cancer Oropharyngeal Carcinoma Malignant Neoplasm Of Oropharynx Malignant Oropharyngeal Tumor Malignant Tumor Of Oropharynx Malignant Tumour Of Mesopharynx Oropharyngeal Cancer, Adult Cancer Of The Oropharynx
Brain Cancer	Malignant Neoplasm Of Brain Adult Brain Tumor 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
Diaphragmatic Eventration
Esophageal Cancer	Esophageal Carcinoma Carcinoma Of Esophagus Esophageal Squamous Cell Carcinoma, Somatic Esophageal Carcinoma, Somatic Esophagus Cancer Gastric Cardia Adenocarcinoma Esophageal Neoplasms Esophageal Cancer, Somatic Cancer Of Esophagus Cancer Of Oesophagus Carcinoma Of Oesophagus Ca Lower Third Oesophagus Ca Middle Third Oesophagus Malignant Neoplasm Of Distal Third Of Esophagus Malignant Neoplasm Of Lower Third Of Oesophagus Malignant Neoplasm Of Middle Third Of Oesophagus Malignant Neoplasm Of Proximal Third Of Esophagus Malignant Neoplasm Of Upper Third Esophagus Malignant Tumor Of Abdominal Esophagus Malignant Tumor Of Distal Third Of Esophagus Malignant Tumor Of Proximal Third Of Esophagus Malignant Tumor Of The Middle Third Of The Esophagus ESCR Aerodigestive Tract Cancer Escc Esophageal Squamous Cell Carcinoma Cancer, Esophageal Malignant Neoplasm Of Esophagus Squamous Cell Carcinoma Of Esophagus Malignant Neoplasm Of Middle Third Of Esophagus
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
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Anal Squamous Cell Carcinoma	Epidermoid Anal Carcinoma Carcinoma Of Anal Margin
Tonsil Cancer	Tonsillar Neoplasms Malignant Neoplasm Of Faucial Tonsil Malignant Neoplasm Of Palatine Tonsil Malignant Neoplasm Of Tonsil, Faucial Malignant Tonsillar Tumor Malignant Tumor Of Tonsil Tonsillar Carcinoma Malignant Neoplasm Tonsil
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Macrodactyly Of Toes, Unilateral	Macrodactyly Of Foot, Unilateral
Estrogen-Receptor Positive Breast Cancer
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Keratosis	Actinic Keratosis Hyperkeratosis
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
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
Esophagus Verrucous Carcinoma	Oesophagus Verrucous Carcinoma Verrucous Carcinoma Of Esophagus Verrucous Carcinoma Of Oesophagus Verrucous Carcinoma Of The Esophagus
Immunodeficiency 14	Activated Pi3k-Delta Syndrome Apds Pasli Disease Imd14 Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency
Uterine Body Mixed Cancer	Malignant Mixed Tumor Of Corpus Uteri Malignant Mixed Tumor, Not Otherwise Specified
Endometrioid Ovary Carcinoma	Endometrioid Carcinoma Of Ovary Endometrioid Carcinoma Ovary Ovarian Endometrioid Carcinoma Malignant Ovarian Endometrioid Tumor Ovarian Endometrioid Tumor

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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Art. -Nr.	Produktname	Reinheit	Rare Diseases
HY-15244	Alpelisib	99.95%	Yes
HY-15244A	Alpelisib hydrochloride	99.55%	Yes
HY-15244R	Alpelisib (Standard)	99.86%	Unkown

Clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-13898	Taselisib	Inhibitor	99.75%	Phase 3
HY-10358	MK-2206 dihydrochloride		99.99%	Phase 1
HY-100886	BAY1082439		99.35%	Phase 1
HY-126077	MTI-31	Inhibitor	99.98%	Phase 1
HY-137849	RK-582	Inhibitor	98.05%	Phase 1
HY-10358R	MK-2206 dihydrochloride (Standard)		/	Phase 1

Pre-clinical Phase

Bioactive Molecules (14)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-108232	MK-2206		99.72%	Unkown
HY-153306	Zovegalisib	Inhibitor	98.80%	Unkown
HY-137458A	Vevorisertib trihydrochloride	Inhibitor	98.05%	Unkown
HY-137458	Vevorisertib	Inhibitor	98.03%	Unkown
HY-RS10523	PIK3CA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-100424	PI3K-IN-63	Inhibitor	/	Unkown
HY-138302	PF-06862309		/	Unkown
HY-172964	KIM-161		/	Unkown
HY-183285	PI3Kα-IN-32	Inhibitor	/	Unkown
HY-183770	LCI40	Inhibitor	/	Unkown
HY-N12726	Halociline	Inhibitor	/	Unkown
HY-RS10524	Pik3ca Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10525	Pik3ca Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-116191	WJD008	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIK3CA	VGNC	VGNC:44555
Mus musculus	PIK3CA	MGD	MGI:1206581
Macaca mulatta	PIK3CA	VGNC	VGNC:75995
Bos taurus	PIK3CA	VGNC	VGNC:32889
Rattus norvegicus	PIK3CA	RGD	RGD:620916
Felis catus	PIK3CA	VGNC	VGNC:68854
Others	PIK3CA	NCBI