RET - ret proto-oncogene Gene

Also Known as PTC; MTC1; HSCR1; MEN2A; MEN2B; CDHF12; CDHR16; RET-ELE1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5979

About RET

Cytogenetic location: 10q11.21 Genomic coordinates (GRCh38): 10:43,077,069-43,130,351 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues, 53 paralogues and is associated with 153 phenotypes. Biased expression in adrenal (RPKM 10.2), prostate (RPKM 1.3) and 9 other tissues.

Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and Other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

RET Products (41)

mRNA Protein Name
NM_001406779.1 NP_001393708.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform v precursor
NM_001406791.1 NP_001393720.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform gg precursor
NM_001406790.1 NP_001393719.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform ff precursor
NM_001406789.1 NP_001393718.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform ee precursor
NM_001406792.1 NP_001393721.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform hh precursor
NM_001406784.1 NP_001393713.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform z precursor
NM_001406770.1 NP_001393699.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform m precursor
NM_020630.7 NP_065681.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor
NM_001406780.1 NP_001393709.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform v precursor
NM_001406774.1 NP_001393703.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform q precursor
NM_001406775.1 NP_001393704.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform r precursor
NM_001406772.1 NP_001393701.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform o precursor
NM_001406743.1 NP_001393672.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor
NM_001406786.1 NP_001393715.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform bb precursor
NM_001406764.1 NP_001393693.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform h precursor
NM_001406760.1 NP_001393689.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform e precursor
NM_001406793.1 NP_001393722.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform ii precursor
NM_001406787.1 NP_001393716.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform cc precursor
NM_001406782.1 NP_001393711.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform x precursor
NM_020975.6 NP_066124.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor
NM_001406771.1 NP_001393700.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform n precursor
NM_001406778.1 NP_001393707.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform u precursor
NM_001406777.1 NP_001393706.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform t precursor
NM_001406761.1 NP_001393690.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform f precursor
NM_001406794.1 NP_001393723.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform jj precursor
NM_001406767.1 NP_001393696.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform j precursor
NM_001406744.1 NP_001393673.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform b precursor
NM_001406762.1 NP_001393691.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform f precursor
NM_001406765.1 NP_001393694.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform i precursor
NM_001406783.1 NP_001393712.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform y precursor
NM_001406776.1 NP_001393705.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform s precursor
NM_001406781.1 NP_001393710.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform w precursor
NM_001406769.1 NP_001393698.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform l precursor
NM_001406768.1 NP_001393697.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform k precursor
NM_001406759.1 NP_001393688.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform e precursor
NM_001406788.1 NP_001393717.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform dd precursor
NM_001406763.1 NP_001393692.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform g precursor
NM_001406785.1 NP_001393714.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform aa precursor
NM_001406773.1 NP_001393702.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform p precursor
NM_001355216.2 NP_001342145.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform d
NM_001406766.1 NP_001393695.1 proto-oncogene tyrosine-protein kinase receptor Ret isoform j precursor
Molecular Function GO Annotation Evidence Verweise Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
9575150 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10545102 GOA
enables transmembrane receptor protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
24560924 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in GDF15-GFRAL signaling pathway IDA
IDA: Inferred from direct assay
31535977 GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
10921886 GOA
involved in cellular response to retinoic acid IMP
IMP: Inferred from mutant phenotype
17910947 GOA
involved in glial cell-derived neurotrophic factor receptor signaling pathway IDA
IDA: Inferred from direct assay
24560924 GOA
involved in membrane protein proteolysis IDA
IDA: Inferred from direct assay
21357690 GOA
involved in neuron cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
21357690 GOA
involved in positive regulation of MAPK cascade IDA
IDA: Inferred from direct assay
28846099 GOA
involved in positive regulation of MAPK cascade IMP
IMP: Inferred from mutant phenotype
28953886 GOA
involved in positive regulation of cell adhesion mediated by integrin IDA
IDA: Inferred from direct assay
20702524 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
20702524 GOA
involved in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
IMP: Inferred from mutant phenotype
10921886 GOA
involved in positive regulation of neuron projection development IMP
IMP: Inferred from mutant phenotype
17910947 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: Inferred from mutant phenotype
28846097 GOA
involved in regulation of cell adhesion IDA
IDA: Inferred from direct assay
21357690 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in endosome membrane IDA
IDA: Inferred from direct assay
19823924 GOA
is active in plasma membrane IDA
IDA: Inferred from direct assay
9575150 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19823924 GOA
part of plasma membrane protein complex IDA
IDA: Inferred from direct assay
10545102 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 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

RET Protein Structure

Cadherin

Cadherin: Cadherin domain (173 - 256)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (724 - 1005)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1114 a.a.
Protein Preferred Names Protein Names

proto-oncogene tyrosine-protein kinase receptor Ret

  • RET receptor tyrosine kinase

  • cadherin family member 12

  • cadherin-related family member 16

  • proto-oncogene c-Ret

  • rearranged during transfection

  • ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)

RET Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RET P07949 TLN1 Homo sapiens Q9Y490 35044719
Intra
RET P07949 ALK Homo sapiens Q9UM73 35384245
Intra
RET P07949 ALK Homo sapiens Q9UM73 35384245
Intra
RET P07949 STAT3 Homo sapiens P40763
PLA
25241761
Intra
RET P07949 STAT3 Homo sapiens P40763 11536047
Intra
RET P07949 FGFR4 Homo sapiens P22455 35384245
Intra
RET P07949 FGFR4 Homo sapiens P22455 35384245
Intra
RET P07949 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
RET P07949 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Cross
RET P07949 Sh2b1 Rattus norvegicus Q62985
Y2H
17471236
Cross
RET P07949 Sh2b1 Rattus norvegicus Q62985 17471236
Cross
RET P07949 Sh2b1 Rattus norvegicus Q62985
Y2H
16569669
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RET Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P73678 RET Protein, Human (Active, sf9, His-GST) P07949-1 (H658-S1114) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P73679 RET Protein, Human (HEK293, His) P07949-1 (L29-R635) ≥ 90%, as determined by reducing SDS-PAGE.

RET Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80307 Ret Antibody (YA097) WB, ICC/IF, IHC-P, IP, FC Human, Mouse
HY-P85351 Ret Antibody (YA5043) WB; IHC-P; IHC-F; ICC/IF; IF-Tissue; IP; FC Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Sudden Infant Death Syndrome
  • SIDS

  • Sudden Infant Death Syndrome, Susceptibility To

  • Cot Death

  • Crib Death

  • Sudden Death Of Nonspecific Cause In Infancy

  • Sudden Infant Death

  • Death, Sudden, Syndrome, Infant

Gastrointestinal Stromal Tumor
  • GIST

  • Gastrointestinal Stromal Tumors

  • Gastrointestinal Stromal Sarcoma

  • Gastrointestinal Stromal Tumor, Familial

  • Gant

  • Gastrointestinal Stromal Tumour

  • Stromal Tumor Of Gastrointestinal Tract

  • Stromal Tumour Of Gastrointestinal Tract

  • Gastrointestinal Stromal Neoplasm

  • Paraganglioma And Gastric Stromal Sarcoma

  • Plexosarcoma

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Thyroid Sarcoma
  • Sarcoma Of The Thyroid Gland

  • Thyroid Gland Sarcoma

Gingival Overgrowth
  • Gingival Enlargement

  • Gingival Hyperplasia

  • Gingival Bulge

  • Gingival Enlargement Nos

  • Gingival Hypertrophy

  • Gum Hypertrophy

  • Hyperplasia Gum

  • Gingival Thickening

  • Hyperplasia Of Gingiva

  • Hypertrophy Of Gingiva

  • Hypertrophy Of Mucous Membrane Of Gums

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Paraganglioma
  • Chemodectoma

  • Glomus Body Tumor

  • Paragangliomas

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Persistent Generalized Lymphadenopathy
  • Pgl

  • Persistant Generalized Lymphadenopathy

Central Nervous System Hemangioma
  • Hemangioma Of Cns

  • Hemangioma Of The Central Nervous System

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Congenital Central Hypoventilation Syndrome
  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome

Thyroid Gland Follicular Carcinoma
  • Follicular Thyroid Carcinoma

  • Follicular Adenocarcinoma

  • Follicular Adenocarcinoma, Well Differentiated

  • Follicular Carcinoma

  • Thyroid Adenocarcinoma

  • Adenocarcinoma, Follicular

Intestinal Obstruction
  • Inspissated Milk Syndrome

  • Milk Curd Syndrome

Cowden Syndrome 1
  • Pten Hamartoma Tumor Syndrome

  • Bannayan-Riley-Ruvalcaba Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Lhermitte-Duclos Syndrome

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Carcinoma Of Pancreas

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Cancer Of The Pancreas

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Thyroid Carcinoma
  • Thyroid Cancer

  • Malignant Neoplasm Of Thyroid

  • Thyroid Neoplasm

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

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

Thyroid Tumor
Ovarian Germ Cell Teratoma
  • Germ Cell Teratoma Of Ovary

  • Ovarian Teratoma

Papillary Carcinoma
  • Carcinoma, Papillary

  • Carcinoma Papillary

Lung Sarcomatoid Carcinoma
  • Pulmonary Sarcomatoid Carcinoma

  • Sarcomatoid Carcinoma Of The Lung

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Substernal Goiter
  • Retrosternal Thyroid Goiter

  • Retrosternal Thyroid Goitre

  • Substernal Goitre

  • Goiter, Substernal

Atypical Follicular Adenoma
Multicentric Papillary Thyroid Carcinoma
  • Multicentric Thyroid Gland Papillary Carcinoma

Follicular Adenoma
  • Follicular Adenoma Of The Thyroid Gland

  • Thyroid Follicular Adenoma

  • Adenoma Follicular

  • Follicular Thyroid Adenoma

  • Thyroid Gland Follicular Adenoma

Hashimoto Thyroiditis
  • Autoimmune Thyroiditis

  • Hashimoto Struma

  • Hashimoto'S Thyroiditis

  • Chronic Lymphocytic Thyroiditis

  • Lymphocytic Thyroiditis

  • Hashimoto Disease

  • Ht

  • Hashimoto'S Disease

  • Hashimoto'S Syndrome

  • Hypothyroidism, Autoimmune

  • Autoimmune Chronic Lymphocytic Thyroiditis

  • Chronic Lymphocytic Thyroiditides

  • Hashimoto Syndrome

  • Hashimotos Thyroiditis

  • Hashimoto Thyroiditis, Susceptibility To

  • Thyroiditis, Autoimmune

  • Lymphomatous Thyroiditis

  • Lymphoid Thyroiditis

  • Chronic Lymphadenoid Thyroiditis

  • Autoimmune Lymphocytic Chronic Thyroiditis

  • Goitre Lymphomatosa

  • Hashitoxicosis

  • Hashimoto Hypothyroidism

  • Lymphadenoid Goitre

  • Struma Lymphomatosa

  • Hyperthyroidism With Hashimoto Disease

  • Hashimoto Thyrotoxicosis

  • Thyrotoxicosis Due To Hashimoto Thyroiditis

  • Struma Lymphomatosis

  • Lymphadenoid Struma

Cerebral Angioma
  • Hemangioma Of Cerebrum

  • Cerebral Hemangioma

American Histoplasmosis
  • Infection By Histoplasma Capsulatum

Autonomic Nervous System Benign Neoplasm
Familial Hypocalciuric Hypercalcemia
  • Familial Benign Hypercalcemia

  • Fbh

  • Fbhh

  • Fhh

  • Familial Benign Hypocalciuric Hypercalcemia

  • Hypocalciuric Hypercalcemia, Familial, Type 1

Hyperparathyroidism 2 With Jaw Tumors
  • Hyperparathyroidism-Jaw Tumor Syndrome

  • Hpt-Jt

  • HRPT2

  • Familial Primary Hyperparathyroidism With Multiple Ossifying Jaw Fibromas

  • Parathyroid Adenoma With Cystic Changes

  • Hereditary Hyperparathyroidism-Jaw Tumor Syndrome

  • Hyperparathyroidism 2

  • Hyperparathyroidism, Familial Primary, With Multiple Ossifying Jaw Fibromas

  • Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary

  • Familial Cystic Parathyroid Adenomatosis

  • Hyperparathyroidism-Jaw Tumor Syndrome, Type 2

  • Parathyroid Adenomatosis, Familial Cystic

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

Neuroendocrine Tumor
  • Neuroendocrine Neoplasm

  • Neuroendocrine Tumors

  • Carcinoma, Neuroendocrine

Hypertelorism
  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive

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

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

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Retinal Degeneration
  • Degeneration Of Retina

Sublingual Gland Cancer
  • Malignant Tumor Of Sublingual Gland

  • Malignant Tumor Of The Sublingual Gland

Adenocarcinoma
  • Adenocarcinomas

  • Adenoacanthoma Of Unspecified Site

  • Adenocarcinoid Of Unspecified Site

  • Adenocarcinoid Tumour Of Unspecified Site

  • Adenocarcinoma And Carcinoid Combined Of Unspecified Site

  • Adenocarcinoma Nos

Peripheral Nervous System Benign Neoplasm
Parathyroid Carcinoma
  • Parathyroid Cancer

  • Parathyroid Neoplasms

  • Malignant Tumor Of Parathyroid Gland

  • PRTC

  • Carcinoma Of Parathyroid Gland

  • Malignant Neoplasm Of Parathyroid Gland

  • Parathyroid Gland Adenocarcinoma

  • Parathyroid Gland Cancer

  • Parathyroid Neoplasm

  • Parathyroid Gland Carcinoma

  • Malignant Neoplasm Of The Parathyroid

  • Neoplasm Of Parathyroid Gland

  • Parathyroid Gland Neoplasm

  • Cancer Of The Parathyroid

  • Cancer Of The Parathyroid Gland

  • Malignant Neoplasm Of Parathyroid

  • Malignant Parathyroid Gland Neoplasm

  • Malignant Parathyroid Gland Tumor

  • Malignant Parathyroid Neoplasm

  • Malignant Parathyroid Tumor

  • Malignant Tumor Of Parathyroid

  • Parathyroid Adenocarcinoma

  • Neoplasm Of The Parathyroid Gland

  • Carcinoma, Parathyroid

Thyroid Gland Anaplastic Carcinoma
  • Anaplastic Thyroid Carcinoma

  • Anaplastic Thyroid Cancer

  • Thyroid Cancer, Anaplastic

  • Thyroid Carcinoma, Anaplastic

  • Thyroid Carcinoma Anaplastic

Thyroid Gland Disease
  • Abnormality Of The Thyroid Gland

  • Thyroid Diseases

Renal Agenesis, Bilateral
  • Bilateral Renal Agenesis

Thyroid Gland Medullary Carcinoma
  • Medullary Thyroid Carcinoma

  • Medullary Carcinoma Of The Thyroid Gland

  • Ultimobranchial Thyroid Tumor

  • Ultimobranchial Thyroid Tumour

  • Thyroid Cancer, Medullary

Achalasia
  • Cardiospasm

  • Achalasia Of Cardia

  • Esophageal Achalasia

  • Hypertensive Lower Esophageal Sphincter

  • Idiopathic Achalasia

  • Achalasia Cardia

  • Idiopathic Achalasia Of Esophagus

  • Primary Achalasia

  • Achalasia Of Esophagus

  • Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

  • Aperistalsis Of The Oesophagus

  • Achalasia Of Oesophagus

  • Oesophageal Achalasia

  • Achalasia Nos

  • Cardia Spasm

  • Cardia Achalasia

  • Oesophageal Cardiospasm

  • Oesophagus Achalasia

  • Reflex Cardiospasm

Islet Cell Tumor
  • Pancreatic Neuroendocrine Tumor

  • Neuroendocrine Tumor Of Pancreas

  • Pnet

  • Pancreatic Net

  • Well-Differentiated Nen Of Pancreas

  • Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

  • Well-Differentiated Pancreatic Nen

  • Well-Differentiated Pancreatic Neuroendocrine Neoplasm

  • Endocrine Pancreas Cancer

  • Islet Cell Neoplasm

  • Islet Cell Tumour

  • Malignant Pancreatic Endocrine Tumor

  • Malignant Pancreatic Endocrine Tumour

  • Malignant Tumor Of Endocrine Pancreas

  • Malignant Tumour Of Endocrine Pancreas

  • Pancreatic Endocrine Neoplasm

  • Pancreatic Endocrine Tumor

  • Pancreatic Neuroendocrine Neoplasm

  • Adenoma, Islet Cell

  • Well Differentiated Pancreatic Endocrine Tumor

  • Malignant Neoplasm Of Endocrine Pancreas

  • Pancreatic Endocrine Carcinoma

Multinodular Goiter
Ovarian Germ Cell Cancer
  • Ovarian Germ Cell Tumor

  • Malignant Germ Cell Tumor Of Ovary

  • Germ Cell Neoplasm Of Ovary

  • Germ Cell Tumor Of Ovary

  • Mogct

  • Malignant Ovarian Germ Cell Tumor

  • Malignant Ovarian Germ Cell Neoplasm

Extra-Adrenal Pheochromocytoma
  • Pheochromocytoma, Extra-Adrenal

Testicular Spermatocytic Seminoma
  • Spermatocytic Seminoma

Benign Struma Ovarii
Laurence-Moon Syndrome
  • LNMS

  • Laurence-Moon-Biedl Syndrome

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

  • Multiple Endocrine Neoplasia, Type 2a

  • Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma

  • Multiple Endocrine Neoplasia Ii

  • Men2 Syndrome

  • Men-2a Syndrome

  • Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma

  • Multiple Neoplasia 2a

  • Multiple Neoplasia Type 2

Neuronal Intestinal Dysplasia, Type B
  • Neuronal Intestinal Dysplasia Type B

  • Nid B

Tall Cell Variant Papillary Carcinoma
  • Tall Cell Variant Thyroid Gland Papillary Carcinoma

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Goldberg-Shprintzen Syndrome
  • Goldberg-Shprintzen Megacolon Syndrome

  • GOSHS

  • Megacolon-Microcephaly Syndrome

Laryngeal Neuroendocrine Tumor
  • Laryngeal Neuroendocrine Tumour

  • Neuroendocrine Tumor Of Larynx

  • Neuroendocrine Tumour Of Larynx

  • Neuroendocrine Neoplasm Of Larynx

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Thyroid Carcinoma, Familial Medullary
  • Medullary Thyroid Carcinoma

  • Familial Medullary Thyroid Carcinoma

  • MTC

  • Fmtc

  • Mtc1

  • Thyroid Cancer, Medullary

  • Medullary Thyroid Cancer

  • Thyroid Carcinoma, Medullary

  • Familial Mtc

  • Thyroid Carcinoma Medullary

  • Carcinoma, Thyroid, Medullary, Familial

  • Medullary Carcinoma Of Thyroid

  • Medullary Carcinoma With Amyloid Stroma, Unspecified Site

  • Medullary Carcinoma With Amyloid Stroma Of Thyroid

Pituitary Adenoma
  • Pituitary Neoplasms

  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

Childhood Fibrosarcoma
  • Pediatric Fibrosarcoma

Skin Lipoma
  • Lipoma Of Skin

  • Cutaneous Lipoma

  • Cutaneous Lipomatous Tumor

  • Lipoma Of Face

  • Cutaneous Lipomatous Neoplasm

Mowat-Wilson Syndrome
  • MOWS

  • Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

  • Hirschsprung Disease-Mental Retardation Syndrome

  • Mowat-Wilson Syndrome Due To Monosomy 2q22

  • Hirschsprung Disease Mental Retardation Syndrome

  • Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

  • Hirschsprung Disease - Intellectual Disability Syndrome

  • Hirschsprung Disease Intellectual Disability Syndrome

  • Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

  • Mws

  • Hirschsprung Disease-Intellectual Disability Syndrome

  • Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

  • Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

  • Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

  • Mowat-Wilson Syndrome Due To 2q22 Microdeletion

  • Mowat-Wilson Syndrome Due To Del(2)Q(22)

  • Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

  • Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Waardenburg'S Syndrome
  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a

Thyroid Lymphoma
Rhabdomyosarcoma
Central Hypoventilation Syndrome, Congenital, 1
  • Cchs

  • CCHS1

  • Central Hypoventilation Syndrome, Congenital

  • Congenital Failure Of Autonomic Control

  • Autonomic Control, Congenital Failure Of

  • Ondine Curse, Congenital

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease

  • Ondine Curse

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung

  • Hypoventilation, Central, Syndrome, Congenital, Type 1

  • Congenital Central Hypoventilation

  • Sleep Apnea, Central

  • Central Alveolar Hypoventilation Syndrome

  • Cchs With Hirschsprung Disease

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Sleep-Related Respiratory Failure

  • Hypoventilation

Thyroid Dyshormonogenesis 2a
  • TDH2A

  • Iodide Peroxidase Deficiency

  • Deficiency Of Iodide Peroxidase

  • Thyroid Peroxidase Deficiency

  • Genetic Defect In Thyroid Hormonogenesis 2a

  • Thyroid Hormonogenesis, Genetic Defect In, 2a

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2a

  • Chdh2a

  • Congenital Hypothyroidism Due To Dyshormonogenesis Type 2a

  • Thyroid Hormone Organification Defect 2

  • Tiod

Spitzoid Melanoma
  • Atypical Spitz Nevus

Hemangioma
  • Hemangiomas

Renal Hypodysplasia/Aplasia 3
  • RHDA3

  • Renal Agenesis, Unilateral

  • Unilateral Renal Agenesis

Neuroma
Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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

Medullary Sponge Kidney
  • Cacchi-Ricci Disease

  • Msk

  • Precalicial Canalicular Ectasia

  • Cacchi Ricci Disease

  • Cacchi-Ricci Syndrome

  • Cystic Dilatation Of Renal Collecting Tubes

  • Precalyceal Canalicular Ectasia

  • Sponge Kidney

  • Congenital Cystic Kidney Disease

  • Msk - [Medullary Sponge Kidney]

  • Sponge Kidney Nos

Thyroiditis
  • Inflammation Of Thyroid

  • Thyroiditis Nos

Endocrine Organ Benign Neoplasm
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

Rare Tumor
  • Rare Neoplasm

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Congenital Megacolon

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • Hirschsprung'S Disease

  • Congenital Intestinal Aganglionosis

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Multiple Endocrine Neoplasia, Type Iv
  • Multiple Endocrine Neoplasia Type 4

  • MEN4

  • Multiple Endocrine Neoplasia 4

  • Neoplasia, Endocrine, Multiple, Type Iv

Trichothiodystrophy 4, Nonphotosensitive
  • Amish Brittle Hair Brain Syndrome

  • TTD4

  • Trichothiodystrophy, Nonphotosensitive 1

  • Hair-Brain Syndrome

  • Bids Syndrome

  • Ttdn1

  • Abhs

  • Pollitt Syndrome

  • Trichothiodystrophy-Neurocutaneous Syndrome

  • Nonphotosensitive Trichothiodystrophy 4

  • Trichorrhexis Nodosa Syndrome

  • Trichothiodystrophy 4, Non-Photosensitive

  • Trichothiodystrophy Non-Photosensitive 1

Endocrine Gland Cancer
  • Endocrine Neoplasm

  • Malignant Neoplasm Of Endocrine Gland

  • Endocrine Gland Neoplasms

  • Endocrine Tumor

  • Malignant Endocrine Tumor

  • Malignant Tumour Of Endocrine Gland

  • Neoplasm Of Endocrine Gland

  • Neoplasm Of Endocrine System

  • Neoplasm Of The Endocrine System

  • Carcinoma Of Endocrine Gland

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Ganglioneuroma
Neurofibromatosis
  • Neurofibromatoses

  • Acoustic Neurofibromatosis

  • Central Neurofibromatosis

  • Peripheral Neurofibromatosis

  • Recklinghausen'S Neurofibromatosis

  • Von Reklinghausen Disease

  • Neurofibromatosis Type 1

Nonencapsulated Sclerosing Carcinoma
  • Nonencapsulated Sclerosing Neoplasm

  • Papillary Carcinoma, Diffuse Sclerosing

Struma Ovarii
Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Sensorineural Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

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

Goiter
  • Goitre

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

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Cushing'S Disease

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Lymph Node Disease
  • Abnormality Of The Lymph Nodes

  • Disorder Of Lymph Node

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

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

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

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

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

Primary Cutaneous Amyloidosis
  • Plca

  • Primary Localized Cutaneous Amyloidosis

  • Familial Primary Localized Cutaneous Amyloidosis

  • Amyloidosis Ix

  • Lichen Amyloidosis Familial

  • Amyloidosis, Primary Cutaneous

  • Pca

  • Amyloidosis 9

  • Amyloidosis Familial Cutaneous Lichen

  • Fplca

  • Familial Lichen Amyloidosis

Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Vesicoureteral Reflux
  • Vesico-Ureteral Reflux

Congenital Mesoblastic Nephroma
  • Nephroma, Mesoblastic

  • Mesoblastic Nephroma

Sporadic Pheochromocytoma/Secreting Paraganglioma
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
  • Multiple Pterygium Syndrome, Autosomal Dominant

  • CPSFS1A

  • Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

  • Autosomal Dominant Disease

  • Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

  • Cpskf1a

  • Pterygium Syndrome, Multiple

  • Autosomal Dominant

  • Arthrogryposis, Distal, Type 8, Formerly

  • Da8, Formerly

  • Autosomal Dominant Multiple Pterygium Syndrome

  • Distal Arthrogryposis Type 8

  • Arthrogryposis, Distal, Type 8

  • Da8

  • Pterygium Syndrome, Multiple, Autosomal Dominant

  • Autosomal Dominant Disorder

Inflammatory Myofibroblastic Tumor
  • Inflammatory Fibrosarcoma

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

Congenital Fibrosarcoma
  • Infantile Fibrosarcoma

Megacolon
  • Dilatation Of Colon

Nonsyndromic Paraganglioma
  • Chemodectoma

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Malignant Pheochromocytoma
  • Pheochromocytoma, Malignant

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

Multiple Mucosal Neuroma
Differentiated Thyroid Carcinoma
  • Papillary Or Follicular Thyroid Carcinoma

  • Well-Differentiated Thyroid Carcinoma

  • Differentiated Thyroid Gland Carcinoma

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Lung Non-Squamous Non-Small Cell Carcinoma
  • Non- Squamous Nsclc

Constipation
Salivary Gland Mucinous Adenocarcinoma
Amyloidosis
  • Amyloid Disease

  • Amyloid

  • Amyloid Degeneration

  • Amyloidosis Nos

  • Amyloid Deposition

  • Amyloid Infiltration

  • Idiopathic Amyloidosis

  • Hyaloid Degeneration

  • Lardaceous Degeneration

Cardiovascular Organ Benign Neoplasm
Waardenburg Syndrome, Type 4a
  • Waardenburg-Shah Syndrome

  • Shah-Waardenburg Syndrome

  • Waardenburg Syndrome Type 4a

  • WS4A

  • Ws4

  • Waardenburg Syndrome Type 4

  • Waardenburg Syndrome Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease Type 4a

  • Hirschsprung Disease With Pigmentary Anomaly

  • Waardenburg-Hirschsprung Syndrome

  • Waardenburg Syndrome, Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4a

  • Waardenburg-Hirschsprung Disease

  • Waardenburg Syndrome, Type 4

  • Waardenburg Syndrome 4a

Tumor Predisposition Syndrome
  • TPDS

  • Tumor Predisposition

Hypermobile Ehlers-Danlos Syndrome
  • Heds

  • Ehlers-Danlos Syndrome Type 3

  • Ehlers-Danlos Syndrome Hypermobility Type

  • Hypermobile Eds

  • Joint Hypermobility

  • Benign Joint Hypermobility Syndrome

  • Eds Hypermobility Type

  • Eds Type Iii

  • Ehlers-Danlos Syndrome Type Iii

  • Joint Hypermobility Syndrome

  • Eds3

  • Ehlers-Danlos Syndrome, Hypermobility Type

  • Eds Iii

  • Eds-Ht

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Disease

  • Thyroid Dysfunction

Parathyroid Adenoma
  • Adenoma Of Parathyroid

  • Adenoma Of The Parathyroid Gland

  • Parathyroid Gland Adenoma

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

Main Bronchus Cancer
  • Malignant Neoplasm Of Main Bronchus

  • Ca Main Bronchus

Renal Cell Carcinoma, Papillary, 1
  • Papillary Renal Cell Carcinoma

  • Hereditary Papillary Renal Cell Carcinoma

  • Papillary Renal Cell Carcinoma, Sporadic

  • Papillary Renal Cell Adenocarcinoma

  • RCCP

  • RCCP1

  • Renal Cell Carcinoma, Papillary

  • Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

  • Chromophil Carcinoma Of Kidney

  • Papillary Kidney Carcinoma

  • Sporadic Papillary Renal Cell Carcinoma

  • Chromophil Renal Cell Carcinoma

  • Papillary Renal Carcinoma, Malignant -

  • Papillary Renal Cell Carcinoma, Bilateral -

  • Papillary Renal Cell Carcinoma, Familial -

  • Papillary Renal Cell Carcinoma, Multiple -

  • Papillary Renal Cell Carcinoma, Sporadic -

  • Renal Adenocarcinoma

  • Chromophil Rcc

  • Hprcc

  • Renal Cell Carcinoma Papillary

  • Chromophilic Renal Cell Carcinoma

  • Prcc

  • Carcinoma, Renal Cell, Papillary, Type 1

  • Type 1 Papillary Renal Cell Carcinoma

  • Renal Cell Carcinoma

  • Hereditary Papillary Renal Carcinoma

Pyloric Stenosis
Renal Hypodysplasia/Aplasia 1
  • Renal Agenesis

  • Renal Adysplasia

  • Renal Aplasia

  • RHDA1

  • Hereditary Renal Aplasia

  • Hra

  • Hereditary Urogenital Adysplasia

  • Hypodysplasia/Aplasia, Renal, Type 1

  • Congenital Absence Of Kidneys Syndrome

  • Congenital Absence Of Kidney

  • Aplastic Kidney

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

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

Malignant Struma Ovarii
  • Struma Ovarii, Malignant

Spinocerebellar Ataxia, Autosomal Recessive 3
  • SCAR3

  • Scabd

  • Autosomal Recessive Spinocerebellar Ataxia Type 3

  • Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome

  • Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome

  • Spinocerebellar Ataxia With Blindness And Deafness

  • Autosomal Recessive Spinocerebellar Ataxia 3

  • Spinocerebellar Ataxia Autosomal Recessive 3

  • Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness

  • Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome

Autosomal Genetic Disease
  • Autosomal Hereditary Disorder

Nodular Goiter
  • Goiter, Nodular

  • Nodular Goitre

  • Goiter Nodular

  • Non-Toxic Nodular Goiter

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

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
Macaca mulatta RET VGNC VGNC:76899
Canis familiaris RET VGNC VGNC:45481
Bos taurus RET VGNC VGNC:33876
Felis catus RET VGNC VGNC:69292
Rattus norvegicus RET RGD RGD:3556
Mus musculus RET MGD MGI:97902
Others RET NCBI