EDNRB - endothelin receptor type B Gene

Also Known as ETB; ET-B; ETB1; ETBR; ETRB; HSCR; WS4A; ABCDS; ET-BR; HSCR2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1910

About EDNRB

Cytogenetic location: 13q22.3 Genomic coordinates (GRCh38): 13:77,895,481-77,975,527 (from NCBI)

This gene has 8 transcripts (splice variants), 263 orthologues, 15 paralogues and is associated with 9 phenotypes. Broad expression in placenta (RPKM 49.8), lung (RPKM 38.6) and 21 other tissues.

Summary

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the Endothelin Receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

EDNRB Products (5)

mRNA Protein Name
NM_001201397.1 NP_001188326.1 endothelin receptor type B isoform 3
NM_000115.5 NP_000106.1 endothelin receptor type B isoform 1 precursor
NM_001122659.3 NP_001116131.1 endothelin receptor type B isoform 1 precursor
NR_047024.1
NM_003991.4 NP_003982.1 endothelin receptor type B isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables endothelin receptor activity IDA
IDA: Inferred from direct assay
1713452 GOA
enables endothelin receptor activity IMP
IMP: Inferred from mutant phenotype
19767294 GOA
enables peptide hormone binding IPI
IPI: Inferred from physical interaction
1713452 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23597562 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium-mediated signaling IMP
IMP: Inferred from mutant phenotype
28236341 GOA
involved in endothelin receptor signaling pathway IDA
IDA: Inferred from direct assay
1713452 GOA
involved in endothelin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
19767294 GOA
involved in macrophage chemotaxis IMP
IMP: Inferred from mutant phenotype
12207323 GOA
involved in negative regulation of protein metabolic process IMP
IMP: Inferred from mutant phenotype
19767294 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
19767294 GOA
involved in vasoconstriction IMP
IMP: Inferred from mutant phenotype
8982507 GOA
involved in vein smooth muscle contraction IMP
IMP: Inferred from mutant phenotype
8982507 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
28236341 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

EDNRB Protein Structure

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (118 - 384)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
Protein Preferred Names Protein Names

endothelin receptor type B

  • Hirschsprung disease 2

  • endothelin receptor non-selective type

  • endothelin receptor subtype B1

EDNRB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EDNRB P24530 EDN1 Homo sapiens P05305
SPA
23597562
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EDNRB Proteins

Cat. No. Product Name Accession Purity
HY-P74180 EDNRB/Endothelin Receptor Type B Protein, Human (HEK293, His) P24530/NP_000106.1 (E27-K101) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P74181 EDNRB/Endothelin Receptor Type B Protein, Human (HEK293, Fc) P24530 (E27-K101) ≥ 85%, as determined by reducing SDS-PAGE.

EDNRB Antibodies

Cat. No. Product Name Application Reactivity
HY-P83510 Endothelin Receptor B Antibody (YA3255) WB, IP Human

Related Diseases

Diseases Alias
Abcd Syndrome
  • ABCDS

  • Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness

  • Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Impetigo
Palmoplantar Keratoderma, Punctate Type Iii
  • Acrokeratoelastoidosis Of Costa

  • Ake

  • Punctate Palmoplantar Keratoderma Type Iii

  • PPKP3

  • Keratoderma, Palmoplantar, Punctate Type 3

  • Punctate Palmoplantar Hyperkeratosis Type 3

  • Punctate Palmoplantar Keratoderma Type 3

  • Rare Form Of Hirschsprung'S Disease

  • Acrokeratoelastoidosis

  • Collagenous Plaques Of Hands And Feet

  • Aganglionosis, Total Intestinal

  • Collagenous Plaques Of Hand And Feet

  • Palmoplantar Keratoderma, Punctate Type 3

  • Aganglionosis, Total Colonic

  • Ntia

  • Near-Total Intestinal Aganglionosis

  • Tia

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Diaphragmatic Hernia, Congenital
  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Hernia, Congenital Diaphragmatic 1

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect

Lentigines
  • Lentigo

Pulmonary Venoocclusive Disease
  • Pulmonary Veno-Occlusive Disease

  • Obstructive Disease Of The Pulmonary Veins

  • Pvod

  • Isolated Pulmonary Venous Sclerosis

  • Venous Form Of Primary Pulmonary Hypertension

  • Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

Chronic Pulmonary Heart Disease
Piebald Trait
  • Piebaldism

  • PBT

  • Partial Albinism

  • Albinoidism, Oculocutaneous, Autosomal Dominant

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

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart Malformation

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

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

Autosomal Recessive Nonsyndromic Deafness
  • Deafness, Autosomal Recessive, Nonsyndromic

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

Double Pterygium
Goldberg-Shprintzen Syndrome
  • Goldberg-Shprintzen Megacolon Syndrome

  • GOSHS

  • Megacolon-Microcephaly Syndrome

Tietz Albinism-Deafness Syndrome
  • Tietz Syndrome

  • Albinism-Deafness Of Tietz

  • Hypopigmentation/Deafness Of Tietz

  • Tietze'S Syndrome

  • TADS

  • Costochondral Junction Syndrome

  • Costochondritis

  • Tietze Syndrome

  • Hypopigmentation-Deafness Syndrome

  • Costalchondritis

  • Slipping Rib Syndrome

  • Tietze'S Disease

  • Chondropathia Tuberosa

  • Albinism And Complete Nerve Deafness

  • Tietz'S Syndrome

  • Hypopigmentation-Hearing Loss Syndrome

  • Costal Chondritis

  • Abnormality Of The Costochondral Junction

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

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

Aganglionosis, Total Intestinal
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

Olmsted Syndrome, X-Linked
  • OLMSX

  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked

  • Ppkmx

  • X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

  • X-Linked Olmsted Syndrome

  • Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Waardenburg Syndrome, Type 3
  • Waardenburg Syndrome Type 3

  • Klein-Waardenburg Syndrome

  • WS3

  • Waardenburg Syndrome With Upper Limb Anomalies

  • Waardenburg Syndrome Type Iii

  • Waardenburg Syndrome, Type Iii

  • White Forelock Syndrome With Multiple Congenital Malformations

  • Waardenburg Syndrome With Limb Anomalies

  • Waardenburg Syndrome 3

  • White Forelock With Malformations

  • Klein'S Syndrome

Ritter'S Disease
  • Staphylococcal Scalded Skin Syndrome

  • Pemphigus Neonatorum

  • Ritter Disease

  • Dermatitis Exfoliativa Neonatorum

  • Scalded Skin Syndrome

  • Toxic Epidermal Necrolysis, Subcorneal Type

  • Generalized Exfoliative Disease

  • Ssss

  • Ssss - [Staphylococcal Scalded Skin Syndrome]

Waardenburg Syndrome, Type 2e
  • Waardenburg Syndrome Type 2

  • Waardenburg Syndrome Type 2e

  • WS2E

  • Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement

  • Waardenburg Syndrome, Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation

  • Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation

  • Ws2e, With Or Without Neurologic Involvement

  • Ws2e With Or Without Neurological Involvement

  • Ws 2

  • Ws Type 2

  • Ws2

  • Waardenburg Syndrome Type Ii

  • Waardenburg Syndrome 2e

  • Kallmann Syndrome And Deafness With Or Without Hypopigmentation

  • Ws2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type 2e, Without Neurologic Involvement

  • Ws-2

Multidrug-Resistant Tuberculosis
  • Tuberculosis, Multidrug-Resistant

  • Tuberculosis Multidrug-Resistant

Staphyloenterotoxemia
  • Staphylococcal Food Poisoning

  • Staphylococcal Toxaemia Due To Food

  • Staphyloenterotoxicosis

Acute Poststreptococcal Glomerulonephritis
  • Post-Streptococcal Glomerulonephritis

  • Acute Post-Streptococcal Glomerulonephritis

Night Blindness, Congenital Stationary, Type 1h
  • Congenital Stationary Night Blindness 1h

  • CSNB1H

  • Congenital Stationary Night Blindness Type 1h

  • Night Blindness, Congenital Stationary, 1h

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

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Disease, Susceptibility To

  • Coronary Artery Anomaly

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Waardenburg Syndrome, Type 4c
  • Waardenburg Syndrome Type 4c

  • WS4C

  • Waardenburg Syndrome Type Ivc

  • Waardenburg Syndrome With Hirschsprung Disease Type 4c

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4c

  • Waardenburg Syndrome, Type Ivc

  • Waardenburg Syndrome 4c

  • Hirschsprung Disease With Pigmentary Anomaly

  • Shah-Waardenburg Syndrome

  • Waardenburg-Shah Syndrome

  • Waardenburg Syndrome, Type 4a

Coffin-Lowry Syndrome
  • CLS

  • Mental Retardation With Osteocartilaginous Abnormalities

  • Coffin Syndrome 1

  • Coffin Syndrome

  • Dwarfism, Lean Spastic Type

  • Lean Spastic Dwarfism

  • Coffin Lowry Syndrome

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Constipation
Scarlet Fever
  • Scarlatina

  • Scarlatina Nos

Waardenburg Syndrome, Type 2a
  • Waardenburg Syndrome Type 2a

  • WS2A

  • Waardenburg Syndrome, Type Iia

  • Waardenburg Syndrome Without Dystopia Canthorum

  • Ws2

  • Waardenburg Syndrome Type Iia

  • Waardenburg Syndrome 2a

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

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

Limited Scleroderma
  • Limited Cutaneous Systemic Sclerosis

  • Limited Systemic Sclerosis

  • Systemic Sclerosis Sine Scleroderma

  • Crest Syndrome

  • Limited Cutaneous Systemic Scleroderma

  • Scleroderma, Limited

  • Systemic Sclerosis, Limited

  • Progressive Systemic Sclerosis Sine Scleroderma

  • Scleroderma, Sine

  • Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

  • Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Megacolon
  • Dilatation Of Colon

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Epilepsy, Familial Temporal Lobe, 6
  • ETL6

  • Familial Temporal Lobe Epilepsy 6

Hirschsprung Disease 2
  • Hirschsprung Disease, Susceptibility To, 2

  • HSCR2

  • Hirschsprung Disease Type 2

  • Aganglionic Megacolon

  • Mgc

  • Hirschsprung Disease, Susceptibility To, Type 2

  • Hirschsprung Disease

Podoconiosis
  • PDCOS

  • Podoconiosis, Susceptibility To

  • Nonfilarial Elephantiasis Of Lower Legs

  • Nonfilarial Elephantiasis Of Lower Legs, Susceptibility To

  • Endemic Nonfilarial Elephantiasis

  • Endemic Nonfilarial Elephantiasis, Susceptibility To

  • Lymphostatic Verrucosis

  • Lymphostatic Verrucosis, Susceptibility To

  • Elephantiasis

  • Endemic Non-Filarial Elephantiasis

Acquired Color Blindness
  • Acquired Color Vision Deficiencies

  • Acquired Color Vision Deficiency

  • Acquired Colour Blindness

  • Acquired Colour Vision Deficiencies

  • Acquired Colour Vision Deficiency

Bullous Impetigo
Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

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

Sigmoid Disease
  • Sigmoid Diseases

Pyoderma
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

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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

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

Intestinal Obstruction
  • Inspissated Milk Syndrome

  • Milk Curd Syndrome

Cochlear Disease
  • Cochlear Diseases

Hepatopulmonary Syndrome
Rare Genetic Deafness
  • Rare Genetic Hearing Loss

Proctitis
  • Ulcerative Proctitis

  • Chronic Ulcerative Proctitis

  • Idiopathic Proctitis

  • Nonspecific Ulcerative Proctitis

  • Ulcerative Colitis Confined To Rectum

  • Ip - [Idiopathic Proctitis]

  • Chronic Ulcerative Proctitis Nos

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
  • Pcwh Syndrome

  • PCWH

  • Neurologic Waardenburg-Shah Syndrome

  • Waardenburg-Shah Syndrome, Neurologic Variant

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

  • Ws4 Plus

  • Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

  • Waardenburg-Shah Syndrome Neurologic Variant

Migraine With Aura
  • Classic Migraine

  • Migraine With Typical Aura

  • Migraine Accompagnée

  • Complicated Migraine

  • Classical Migraine

  • Acute Migraine With Aura

Commensal Bacterial Infectious Disease
Transient Refractive Change
Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Chromosome 17q12 Duplication Syndrome
  • 17q12 Microduplication Syndrome

  • Trisomy 17q12

  • 17q12 Duplication

  • 17q12 Microduplication

  • Dup(17)(Q12)

  • Recurrent Duplication Of 17q12

  • 17q12 Duplication Syndrome

  • 17q12 Recurrent Duplication

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Waardenburg Syndrome, Type 2d
  • Waardenburg Syndrome Type 2d

  • WS2D

  • Waardenburg Syndrome, Type Iid

  • Waardenburg Syndrome Type Iid

  • Waardenburg Syndrome 2d

Pyomyositis
  • Tropical Pyomyositis

  • Myositis Purulenta Tropica

  • Myositis Tropicans

  • Pm

  • Suppurative Myositis

  • Purulent Myositis

Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome Type 1

  • WS1

  • Waardenburg Syndrome Type I

  • Waardenburg Syndrome With Dystopia Canthorum

  • Waardenburg'S Syndrome Type 1

  • Waardenburg Syndrome 1

  • Waardenburg Syndrome, Type I

  • Waardenburg Syndrome

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 EDNRB MGD MGI:102720
Macaca mulatta EDNRB VGNC VGNC:72160
Bos taurus EDNRB VGNC VGNC:28330
Canis familiaris EDNRB VGNC VGNC:40203
Rattus norvegicus EDNRB RGD RGD:2536
Felis catus EDNRB VGNC VGNC:61728
Others EDNRB NCBI