1. Gene
  2. EDNRB - endothelin receptor type B Gene

EDNRB - endothelin receptor type B Gene

Homo sapiens

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

Gene ID: 1910 | Gene type: protein coding

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

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

Recombinant EDNRB Proteins

Cat. No. Product Name Accession Purity
HY-P74180 EDNRB/Endothelin R Type B Protein, Human (HEK293, His) P24530/NP_000106.1 (E27-K101) ≥95%
HY-P74181 EDNRB/Endothelin R Type B Protein, Human (HEK293, Fc) P24530 (E27-K101) ≥95%
HY-P700379 EDNRB/Endothelin R Type B Protein, Human (Cell-Free, His) P24530 (E27-S442) ≥95%

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