1. Gene
  2. NF1 - neurofibromin 1 Gene

NF1 - neurofibromin 1 Gene

Homo sapiens

Also known as WSS; NFNS; VRNF

Gene ID: 4763 | Gene type: protein coding

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

NF1 Protein Structure

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (1256 - 1430)

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (1571 - 1709)

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  • 2818 a.a.
Protein Preferred Names Protein Names

neurofibromin

neurofibromatosis 1

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

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