NF1 - neurofibromin 1 Gene

Also Known as WSS; NFNS; VRNF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4763

About NF1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:31,094,927-31,377,677 (from NCBI)

This gene has 39 transcripts (splice variants), 208 orthologues, 10 paralogues and is associated with 219 phenotypes. Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues.

Summary

This gene product appears to function as a negative regulator of the Ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

NF1 Products (3)

mRNA	Protein	Name
NM_000267.3	NP_000258.1	neurofibromin isoform 2
NM_001042492.3	NP_001035957.1	neurofibromin isoform 1
NM_001128147.3	NP_001121619.1	neurofibromin isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	1568247	GOA
enables phosphatidylcholine binding	IDA IDA: Inferred from direct assay	17187824	GOA
enables phosphatidylethanolamine binding	IDA IDA: Inferred from direct assay	17187824	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11356864	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	17299016	GOA
acts upstream of or within negative regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	16648142	GOA
acts upstream of or within negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	16648142	GOA
acts upstream of or within negative regulation of endothelial cell proliferation	IMP IMP: Inferred from mutant phenotype	16648142	GOA
involved in negative regulation of endothelial cell proliferation	IMP IMP: Inferred from mutant phenotype	17404841	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	2121371	GOA
acts upstream of or within positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	16648142	GOA
involved in regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	1570015	GOA
involved in regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	17404841	GOA
involved in regulation of blood vessel endothelial cell migration	IMP IMP: Inferred from mutant phenotype	17404841	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axon	IDA IDA: Inferred from direct assay	1550670	GOA
located in dendrite	IDA IDA: Inferred from direct assay	1550670	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

NF1 Protein Structure

RasGAP

CRAL_TRIO_2

0
500
1000
1500
2000
2500
2818 a.a.

Protein Preferred Names	Protein Names
neurofibromin	neurofibromatosis 1

NF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NF1	P21359	SDC2	Homo sapiens	P34741	Y2H	11356864
Intra	NF1	P21359	SPRED1	Homo sapiens	Q7Z699	Anti Tag CoIP	26635368
Intra	NF1	P21359	APP	Homo sapiens	P05067	Anti Bait CoIP	16374483
Intra	NF1	P21359	APP	Homo sapiens	P05067	Y2H	16374483

Cross: Cross-species interaction Intra: Intraspecies interaction

NF1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P810903	NF1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
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
Neurofibromatosis, Familial Spinal	FSNF Familial Spinal Neurofibromatosis
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
Watson Syndrome	WTSN Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With Pulmonic Stenosis Pulmonary Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Macules With Pulmonary Stenosis
Neurofibromatosis	Neurofibromatoses Acoustic Neurofibromatosis Central Neurofibromatosis Peripheral Neurofibromatosis Recklinghausen'S Neurofibromatosis Von Reklinghausen Disease Neurofibromatosis Type 1
Neurofibroma	Neurofibromas Neurofibromatoses Nerve Sheath Tumors
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Cafe-Au-Lait Spots, Multiple	Cafe Au Lait Spots, Multiple Multiple Cafe-Au-Lait Spots Nf6 Neurofibromatosis Type 6 Multiple Café-Au-Lait Spots Autossomal Dominant Café-Au-Lait Spots Familial Cafe´-Au-Lait Spots Multiple Cafe´-Au-Lait Spots Multiple Cafe´-Au-Lait Syndrome Familial Cafe-Au-Lait Spots Multiple Cafe-Au-Lait Syndrome
Optic Nerve Glioma	Glioma Of The Optic Nerve
Lymph Node Disease	Abnormality Of The Lymph Nodes Disorder Of Lymph Node
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Rhabdomyosarcoma
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Rhabdomyosarcoma 2	Alveolar Rhabdomyosarcoma Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma Alveolar RMS2 Rmsa Rhabdomyosarcoma 2, Alveolar Alveolar Childhood Rhabdomyosarcoma Arms Rhabdomyosarcoma, Type 2
Specific Learning Disability	Specific Learning Difficulty Specific Learning Disorder
Hereditary Paraganglioma-Pheochromocytoma Syndromes	Hereditary Pheochromocytoma-Paraganglioma Hereditary Paraganglioma-Pheochromocytoma Familial Pheochromocytoma-Paraganglioma Paragangliomas 2 Paragangliomas 3 Paragangliomas 4 Sdhx-Related Paraganglioma-Pheochromocytoma Familial Paraganglioma Syndrome Familial Paraganglioma-Pheochromocytoma Syndromes Fpgl Fpgl/Pheo Paragangliomas 1 Paraganglioma
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
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Malignant Peripheral Nerve Sheath Tumor	Mpnst Malignant Neurilemmoma Neurofibrosarcoma Malignant Neurofibroma Malignant Schwannoma Neurogenic Sarcoma Schwannoma, Malignant Malignant Neoplasm Of The Peripheral Nerve Sheath Malignant Peripheral Nerve Sheath Tumors
Plexiform Neurofibroma	Neurofibroma Plexiform Neurofibroma, Plexiform
Chromosome 17q11.2 Deletion Syndrome	Nf1 Microdeletion Syndrome 17q11 Microdeletion Syndrome Neurofibromatosis Type 1 Microdeletion Syndrome Van Asperen Syndrome Del(17)(Q11) Monosomy 17q11 Chromosome 17q11.2 Deletion Syndrome, 1.4mb
Neurofibrosarcoma	Neurosarcoma Malignant Peripheral Nerve Sheath Tumor
Ganglioglioma	Childhood Ganglioglioma Adult Ganglioglioma Cns Ganglioglioma Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb	Nf1 Microduplication Syndrome 17q11.2 Microduplication Syndrome Dup(17)(Q11.2) Grisart-Destree Syndrome Trisomy 17q11.2
Atypical Coarctation Of Aorta	Middle Aortic Syndrome Coarctation Of The Abdominal Aorta Mid-Aortic Dysplastic Syndrome Mid-Aortic Syndrome Midaortic Syndrome Takayasu Arteritis
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Optic Nerve Neoplasm	Optic Nerve Neoplasms Neoplasm Of Optic Nerve Tumor Of Second Cranial Nerve Tumour Of Optic Nerve
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Acoustic Neuroma	Neurofibromatosis Type 2 Vestibular Schwannoma Acoustic Neurinoma Bilateral Acoustic Neurofibromatosis Nf2 Acoustic Neurilemoma Cerebellopontine Angle Tumor Neurofibromatosis Central Type Neurofibromatosis Type Ii Vestibular Neurilemmoma Acoustic Tumor Neurinoma Of The Acoustic Nerve Acoustic Neurinoma Bilateral Acoustic Schwannomas Bilateral Banf Central Neurofibromatosis Familial Acoustic Neuromas Neurofibromatosis 2 Neurofibromatosis Type 2 Merlin Schwannoma, Acoustic, Bilateral Neuroma Acoustic Neuroma, Acoustic Familial Acoustic Neuroma Familial Vestibular Schwannoma Neurofibromatosis, Central Type Nf2 - [Neurofibromatosis Type 2]
Cranial Nerve Malignant Neoplasm	Cranial Nerve Neoplasms Malignant Neoplasm Of Cranial Nerve Malignant Tumor Of Cranial Nerve Malignant Tumor Of The Cranial Nerve
Atypical Neurofibroma
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Pulsating Exophthalmos
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Multiple Endocrine Neoplasia	Men Multiple Endocrine Adenomatosis Multiple Endocrine Neoplasia Syndrome Adenomatosis, Familial Endocrine Endocrine Neoplasia, Multiple Familial Endocrine Adenomatosis Mea Multiple Endocrine Neoplasms Multiple Endocrine Neoplasia Type 1
Childhood Malignant Schwannoma	Pediatric Mpnst Childhood Neurofibrosarcoma
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
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Adult Malignant Schwannoma	Adult Mpnst Adult Neurofibrosarcoma
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Cellular Neurofibroma
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
Pacinian Tumor	Pacinian Neurofibroma
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Legius Syndrome	Neurofibromatosis Type 1-Like Syndrome Nfls LGSS Neurofibromatosis 1-Like Syndrome Neurofibromatosis Type 1 Like Syndrome Nf1-Like Syndrome Neurofibromatosis, Type 1-Like Syndrome
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Optic Nerve Astrocytoma	Astrocytic Tumor Of Optic Nerve Optic Tract Astrocytoma Visual Pathway Astrocytoma
Giant Cell Reparative Granuloma	Central Giant Cell Granuloma Central Giant Cell Reparative Granuloma Of Jaw Central Giant Cell Granuloma Granuloma, Giant Cell Granuloma, Giant Cell Reparative Giant Cell Lesion Of Small Bones Giant Cell Granuloma, Nos
Equatorial Staphyloma
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
Vagus Nerve Neoplasm	Neoplasm Of Vagus Nerve Vagus Nerve Tumors
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
Mechanical Ectropion
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Glossopharyngeal Nerve Neoplasm	Neoplasm Of Glossopharyngeal Nerve Tumor Of Glossopharyngeal Nerve
Brachial Plexus Neoplasm	Tumor Of The Brachial Plexus
Facial Nerve Neoplasm	Neoplasm Of Facial Nerve Tumor Of Facial Nerve
Nerve Plexus Neoplasm	Neural Plexus Tumors
Multiple Endocrine Neoplasia, Type Iia	Multiple Endocrine Neoplasia Type 2a Sipple Syndrome Multiple Endocrine Neoplasia Type 2 MEN2A Men2 Ptc Syndrome Multiple Endocrine Neoplasia, Type 2 Multiple Endocrine Neoplasia Iia Men 2a Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Ii Men2 Syndrome Men-2a Syndrome Multiple Neoplasia 2a Multiple Neoplasia Type 2
Malignant Triton Tumor	Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma Malignant Triton Tumour Mpnst With Rhabdomyoblastic Differentiation Mpnst With Rhabdomyosarcoma Mpnst With Rhabdomyosarcomatous Differentiation Mtt Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Orbital Cancer	Malignant Neoplasm Of Orbit Orbital Tumor Orbital Neoplasms Neoplasm Of Orbit Proper Orbit Cancer Primary Malignant Neoplasm Of Orbit Intraorbital Cancer
Duodenal Somatostatinoma	Duodenal Delta Cell Somatostatin Producing Tumor Duodenal Somatostatin-Producing Neuroendocrine Tumor
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]
Plexiform Schwannoma	Plexiform Neurilemmoma Plexiform Neurinoma
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Epithelioid Neurofibroma
Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
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
Ovarian Serous Cystadenocarcinoma	Serous Cystadenoma Cystadenoma Serous Cystadenoma, Serous
Fibroma
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor 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 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Juvenile Pilocytic Astrocytoma
Spinal Cancer	Spinal Cord Neoplasm Spinal Cord Neoplasms Spinal Neoplasms Intraspinal Tumor Malignant Tumor Of The Spinal Cord Spinal Cord Cancer Spinal Neoplasm Tumor Of The Spinal Cord Tumors Spinal Cord Intraspinal Neoplasm Spinal Cord--Cancer
Myelodysplastic/Myeloproliferative Neoplasm	Myelodysplastic-Myeloproliferative Diseases Myelodysplastic/Myeloproliferative Disease Myelodysplastic Myeloproliferative Cancer Myelodysplastic Myeloproliferative Disease Myeloproliferative/Myelodysplastic Syndromes
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
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
Cerebellar Astrocytoma	Astrocytoma Of Cerebellum
Peripheral Nervous System Neoplasm	Peripheral Nervous System Neoplasms Nerve Sheath Neoplasm Neoplasm Of Peripheral Nerve Tumor Of Pns Nerve Sheath Neoplasms Nerve Sheath Tumors
Neurofibromatosis, Type Ii	Neurofibromatosis 2 Neurofibromatosis, Type 2 NF2 Neurofibromatosis Type Ii Bilateral Acoustic Neurofibromatosis Banf Acn Central Neurofibromatosis Neurofibromatosis, Central Type Acoustic Schwannomas, Bilateral Acoustic Neurinoma, Bilateral Bilateral Acoustic Neurinoma Bilateral Acoustic Schwannomas Familial Acoustic Neuromas
Epithelioid Malignant Peripheral Nerve Sheath Tumor	Epithelioid Mpnst Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Orbit Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma Of The Orbit
Pancreatic Somatostatinoma	Pancreatic Delta Cell Somatostatin Producing Neoplasm Pancreatic Somatostatin Cell Tumor
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Malignant Spindle Cell Melanoma	Spindle Cell Melanoma Desmoplastic Melanoma Spindle Cell Malignant Melanoma Spitzoid Malignant Melanoma
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Multiple Endocrine Neoplasia, Type Iib	Multiple Endocrine Neoplasia Type 2b MEN2B Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia Iib Mucosal Neuroma Syndrome Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia, Type 2b Men Iib Neuromata, Mucosal, With Endocrine Tumors Multiple Endocrine Neoplasia, Type Iii, Formerly Men3, Formerly Men Type Iib Men 2b Multiple Endocrine Neoplasia Type 3 Multiple Neoplasia 2b Neoplasia, Endocrine, Multiple, Type Iib
Malignant Glandular Tumor Of Peripheral Nerve Sheath	Glandular Mpnst Glandular Malignant Peripheral Nerve Sheath Tumor
Obstructive Hydrocephalus
Childhood Pilocytic Astrocytoma	Pediatric Pilocytic Astrocytoma
Small Intestine Leiomyoma	Leiomyoma, Small Bowel Leiomyoma Of Small Intestine
Paraganglioma And Gastric Stromal Sarcoma	Carney-Stratakis Syndrome Paraganglioma And Gastrointestinal Stromal Tumor Carney Dyad Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma Paraganglioma And Gist Carney-Stratakis Dyad Gist-Paraganglioma Dyad PGGSS Paraganglioma, Gastric Stromal Sarcoma Gastrointestinal Stromal Tumors
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
Uterine Corpus Endometrial Carcinoma
Cellular Schwannoma	Cellular Neurinoma
Fibrillary Astrocytoma	Fibrillary Astrocytic Tumors Diffuse Astrocytoma Gemistocytic Astrocytoma Protoplasmic Astrocytoma
Orbital Disease	Orbit Orbital Diseases
Low Grade Glioma	Benign Glioma
Optic Nerve Sheath Meningioma	Meningioma Of Optic Nerve Sheath
Peripheral Nerve Schwannoma
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
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Horner'S Syndrome	Horner Syndrome Bernard-Horner Syndrome Oculosympathetic Palsy Bernard Horner Syndrome Cervical Sympathetic Paralysis Von Passow Syndrome Cervical Sympathetic Dystrophy
Cystadenocarcinoma
Orbit Rhabdomyosarcoma	Rhabdomyosarcoma Of The Orbit Rhabdomyosarcoma Of Orbit
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
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Neurilemmoma Of The Fifth Cranial Nerve	Trigeminal Schwannoma Trigeminal Neurilemmoma
Trigeminal Nerve Neoplasm	Neoplasm Of Trigeminal Nerve Tumor Of Trigeminal Nerve
Glioma
Pilomyxoid Astrocytoma
Hypomelanosis Of Ito	Incontinentia Pigmenti Achromians Nevus Of Ito Ipa Ito Hypomelanosis Ito Pigmentation Disorders HMI Incontinentia Pigmenti, Type I, Formerly Ip1, Formerly Bloch-Siemans Syndrome Incontinentia Pigmenti Achromians Syndrome Ito'S Nevus Incontinentia Pigmenti Type 1 Nevi Of Ito Nevus Fuscocaeruleus Acromiodeltoideus Bloch Sulzberger Syndrome Skin Pigmentation Disorder
Liposarcoma	Lipomatous Cancer
Leiomyosarcoma	Leiomyosarcomas
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Mucosal Melanoma
Spinal Cord Astrocytoma	Astrocytoma Of Spinal Cord Spinal Astrocytoma
Pilocytic Astrocytoma Of Cerebellum	Cerebellar Pilocytic Astrocytoma
Vulvar Melanoma	Malignant Melanoma Of Vulva
Brain Glioma	Lower Grade Glioma Intracranial Glioma Glioma Nos
Neuroendocrine Tumor	Neuroendocrine Neoplasm Neuroendocrine Tumors Carcinoma, Neuroendocrine
Scoliosis
Pleomorphic Xanthoastrocytoma	Pxa Pleomorphic Xantho-Astrocytoma
Malignant Pheochromocytoma	Pheochromocytoma, Malignant
Adrenal Medulla Cancer	Adrenal Medulla Neoplasm Adrenal Medulla Tumor Malignant Neoplasm Of Adrenal Medulla Malignant Tumor Of The Adrenal Medulla Adrenal Medulla Carcinoma Neoplasm Of Adrenal Medulla
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
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
Dysembryoplastic Neuroepithelial Tumor	Dysembryoplastic Neuroepithelial Tumour Dysembryoplastic Neuroepithelial Neoplasm Dnet
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Cerebellum Cancer	Cerebellar Neoplasms Cerebellar Cancer Malignant Tumor Of Cerebellum Malignant Neoplasm Of Cerebellum
Subungual Glomus Tumor	Subungual Glomus Tumour
Perianal Hematoma	External Thrombosed Haemorrhoids Thrombosed External Hemorrhoids
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
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
Multiple Mucosal Neuroma
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
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
Cardiovascular Organ Benign Neoplasm
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
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Ossifying Fibroma	Peripheral Ossifying Fibroma Fibro-Osteoma Fibroma Ossifying Fibroma, Ossifying
Bone Structure Disease
Extra-Adrenal Pheochromocytoma	Pheochromocytoma, Extra-Adrenal
Intermittent Proptosis	Intermittent Exophthalmos
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Malignant Conjunctival Melanoma	Conjunctival Melanoma Malignant Melanoma Of Conjunctiva Conjunctival Malignant Melanoma
Non-Langerhans-Cell Histiocytosis	Histiocytosis, Non-Langerhans-Cell Non-Langerhans Cell Histiocytosis
Diffuse Astrocytoma	Diffuse Astrocytoma, Low Grade Who Grade Ii Astrocytoma Fibrillary Astrocytoma Gemistocytic Astrocytoma Low-Grade Diffuse Astrocytoma Protoplasmic Astrocytoma
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
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
Somatostatinoma	Somatostatin Cell Neoplasm Somatostatin Cell Tumour Ampullary Somatostatinoma Carcinoid Somatostatinoma Malignant Islet Cell Tumor Somatomedin-Secreting Carcinoid Somatostatin-Secreting Pancreatic Neoplasm Pancreatic Somatostatinoma Pancreatic Endocrine Carcinoma
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Epidural Spinal Canal Neoplasm	Extradural Tumor Epidural Neoplasms Epidural Neoplasm
Idh-Wildtype Glioblastoma
Glomus Tumor	Glomus Neoplasm Glomus Tumour
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Constipation
Skin Lipoma	Lipoma Of Skin Cutaneous Lipoma Cutaneous Lipomatous Tumor Lipoma Of Face Cutaneous Lipomatous Neoplasm
Conjunctival Cancer	Malignant Neoplasm Of Conjunctiva Conjunctival Neoplasms Conjunctival Tumor Malignant Conjunctival Tumor Malignant Tumor Of Conjunctiva Neoplasm Of Conjunctiva Conjunctiva Cancer Primary Malignant Neoplasm Of Conjunctiva
Exophthalmos	Proptosis
Chondroma	Central Chondroma Enchondroma
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
Conjunctival Nevus	Nevus Of Conjunctiva
Brain Stem Cancer	Brain Stem Neoplasms Malignant Neoplasm Of Brain Stem Malignant Neoplasm Of Brainstem Neoplasm Of Adult Brain Stem Neoplasm Of Brain Stem Primary Brain Stem Neoplasm Primary Brain Stem Tumor Brain Stem Neoplasm Brain Stem--Cancer Brain Stem Neoplasms, Primary
Elephantiasis
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Spinal Meningioma	Spinal Cord Meningioma Meningioma, Spine Meningioma Meningioma, Benign, No Icd-O Subtype
Spinal Canal And Spinal Cord Meningioma
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Neuroma
Endocrine Organ Benign Neoplasm
Subependymal Giant Cell Astrocytoma	Sega Astrocytoma Subependymal Giant Cell Subependymal Giant-Cell Astrocytoma
Inflammatory Leiomyosarcoma
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
Familial Retinoblastoma	Hereditary Retinoblastoma Retinoblastoma
Nodular Malignant Melanoma	Nodular Melanoma
Brachial Plexus Lesion	Brachial Plexus Injuries Brachial Plexus Lesions
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle Neoplasm
Malignant Skin Fibrous Histiocytoma	Vaginal Melanoma Malignant Fibrous Histiocytoma Of Skin
Malignant Dermis Tumor	Malignant Tumor Of Dermis Malignant Dermis Tumour Malignant Neoplasm Of Dermis Malignant Tumour Of Dermis
Acral Lentiginous Melanoma	Acral Lentiginous Melanoma, Malignant Malignant Acral Lentiginous Melanoma Alm Acral Lentiginous Malignant Melanoma Of Skin Palmar/Plantar Melanoma Subungual Melanoma Acral Lentiginous Malignant Melanoma
Syringomyelia	Hydromyelia
Cerebral Arterial Disease	Cerebral Arterial Diseases
Lumbosacral Plexus Lesion	Lumbosacral Plexus Lesions
Muscle Cancer	Myosarcoma Malignant Neoplasm Of Muscle Malignant Tumor Of Muscle Malignant Tumor Of The Muscle Muscle Neoplasms Myomatous Neoplasm
Choroid Cancer	Choroid Neoplasm Choroidal Tumor Malignant Tumor Of Choroid Malignant Tumor Of The Choroid Neoplasm Of Choroid Choroid Neoplasms Primary Malignant Neoplasm Of Choroid
Chest Wall Lipoma	Lipoma Of The Chest Wall Lipoma Of Chest Wall
Enophthalmos
Spinal Cord Glioma	Glial Tumor Of Spinal Cord Glial Neoplasm Spinal Cord Glioma Of Spinal Cord
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
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Mixed Glioma	Mixed Gliomas Mixed Neuroglial Tumor Glioma
Duodenum Cancer	Duodenal Cancer Duodenal Neoplasms Cancer Of Duodenum Duodenal Neoplasm Duodenal Carcinoma Cancer, Duodenal Malignant Neoplasm Of Duodenum
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Intracranial Meningioma	Meningioma
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Keratosis Pilaris Atrophicans Faciei
Dicer1 Syndrome	Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome Ppb Familial Tumor Susceptibility Syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Dicer1-Related Pleuropulmonary Blastoma Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome Ppbftds Doid:0081063
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
Mesenchymal Cell Neoplasm	Benign Miscellaneous Mesenchymal Tumor Mesenchymal Tumor Mesenchymal Tumors
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
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
Spindle Cell Sarcoma	Sarcoma Sarcoma Spindle Cell Sarcoma, Spindle Cell Sarcoma - Category
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
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Diamond-Blackfan Anemia 11	DBA11 Rpl26-Related Diamond-Blackfan Anemia Anemia, Diamond-Blackfan, Type 11
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
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
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
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
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
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
Anaplastic Oligodendroglioma
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Diffuse Midline Glioma, H3 K27m-Mutant	Diffuse Intrinsic Pontine Glioma Dipg Infiltrative Brainstem Glioma
Well-Differentiated Liposarcoma	Atypical Lipomatous Tumor Atypical Lipoma Alt Wdls Liposarcoma, Well Differentiated Pleomorphic Lipoma
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
Dedifferentiated Liposarcoma	Ddls Liposarcoma Dedifferentiated Liposarcoma, Dedifferentiated
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Spinal Cord Oligodendroglioma	Oligodendroglioma Of Spinal Cord Well Differentiated Spinal Cord Oligodendroglioma
Gastric Liposarcoma	Liposarcoma Of The Stomach
Anaplastic Astrocytoma	Grade Iii Astrocytoma Astrocytoma, Anaplastic Grade Iii Astrocytic Tumor
Cell Type Benign Neoplasm
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
Giant Cell Glioblastoma	Monstrocellular Sarcoma
Skin Granular Cell Tumor	Granular Cell Neoplasm Of The Skin Granular Cell Tumor Of Skin Granular Cell Tumour Of Skin Skin Granular Cell Tumour
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Specific Developmental Disorder
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Polyp Of Corpus Uteri	Endometrial/Uterine Polyp Polyp Of Endometrium Polyp Of The Uterus Polyp, Uterus
Rete Ovarii Benign Neoplasm
Rete Ovarii Adenoma	Adenoma Of Rete Ovarii
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
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
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
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
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

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Phase
HY-W273690	Pentifylline	Inhibitor	99.23%	Phase 4
HY-158115	NST-628	Inhibitor	99.35%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-156872	MTX-216		/	Unkown
HY-RS09233	NF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-113821	1-Naphthyl phosphate potassium salt	Inhibitor	99.86%	Unkown
HY-120614	BMS-186511	Inhibitor	/	Unkown
HY-RS17398	Nf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23853	Nf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NF1	MGD	MGI:97306
Rattus norvegicus	NF1	RGD	RGD:3168
Felis catus	NF1	VGNC	VGNC:68466
Canis familiaris	NF1	VGNC	VGNC:43761
Bos taurus	NF1	VGNC	VGNC:54463
Macaca mulatta	NF1	VGNC	VGNC:75323
Others	NF1	NCBI