1. Gene
  2. ELN - elastin Gene

ELN - elastin Gene


种属: Homo sapiens


基因 ID: 2006 | 基因类型: protein coding

关于 ELN

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,028,173-74,069,907 (from NCBI)

This gene has 35 transcripts (splice variants), 80 orthologues and is associated with 76 phenotypes. Broad expression in urinary bladder (RPKM 40.8), gall bladder (RPKM 38.1) and 24 other tissues.


该基因编码的蛋白质是弹性纤维的两种成分之一。弹性纤维构成细胞外基质的一部分,并赋予器官和组织弹性,包括心脏、皮肤、肺、韧带和血管。编码的蛋白质富含甘氨酸和脯氨酸等疏水性氨基酸,它们形成以赖氨酸残基之间的交联为界的流动疏水性区域。编码蛋白质的降解产物,称为弹性蛋白衍生肽或弹性因子,结合弹性蛋白受体复合物和其他受体并刺激单核细胞和皮肤成纤维细胞的迁移和增殖。弹性因子也可以促进癌症进展。该基因的缺失和突变与瓣膜上主动脉瓣狭窄 (SVAS) 和常染色体显性皮肤松弛有关。[RefSeq 提供,2017 年 8 月]

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic Amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived Peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to Cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

ELN 基因产物(13)

mRNA Protein Name
NM_000501.4 NP_000492.2 elastin isoform a precursor
NM_001081752.3 NP_001075221.1 elastin isoform b precursor
NM_001081753.3 NP_001075222.1 elastin isoform c precursor
NM_001081754.3 NP_001075223.1 elastin isoform d precursor
NM_001081755.3 NP_001075224.1 elastin isoform e precursor
NM_001278912.2 NP_001265841.1 elastin isoform f precursor
NM_001278913.2 NP_001265842.1 elastin isoform g precursor
NM_001278914.2 NP_001265843.1 elastin isoform h precursor
NM_001278915.2 NP_001265844.1 elastin isoform i precursor
NM_001278916.2 NP_001265845.1 elastin isoform j precursor
NM_001278917.2 NP_001265846.1 elastin isoform k precursor
NM_001278918.2 NP_001265847.1 elastin isoform l precursor
NM_001278939.2 NP_001265868.1 elastin isoform m precursor
蛋白主名 其他名称




疾病名称 别名
Supravalvular Aortic Stenosis


Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa



Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Williams-Beuren Syndrome

Williams Syndrome



Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis



Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Cutis Laxa

Generalized Elastolysis

Loose Skin



Cutis Laxa Syndrome

Pulmonary Emphysema
Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To


Exfoliation Glaucoma


Pseudoexfoliation Of The Lens



Exfoliative Syndrome

Glaucoma Capsulare


Pseudo-Exfoliation Syndrome

Aortic Disease

Aortic Diseases

Aortic Disorder

Disorder Of The Aorta

Buschke-Ollendorff Syndrome



Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated

Vascular Disease

Vascular Diseases


Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Pseudoxanthoma Elasticum


Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]


Arteriosclerotic Vascular Disease

Aortic Dissection
Marfan Syndrome



Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome


Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic



Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic





Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Ehlers-Danlos Syndrome, Vascular Type

Eds Iv


Vascular Ehlers-Danlos Syndrome


Sack-Barabas Syndrome


Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant

Vascular Type Ehlers-Danlos Syndrome

Arterial-Ecchymotic Eds

Ehlers-Danlos Syndrome Type 4

Vascular Eds

Ehlers-Danlos Syndrome, Type 4

Ehlers-Danlos Syndrome, Type Iv

Ehlers-Danlos Syndrome, Arterial Type

Ehlers-Danlos Syndrome, Ecchymotic Type

Ehlers-Danlos Syndrome, Sack-Barabas Type

Autosomal Dominant Type Iv Ehlers-Danlos Syndrome

Eds Type Iv

Eds Type 4

Ehlers Danlos Syndrome, Sack-Barabas Type

Ehlers Danlos Syndrome, Arterial Type

Ehlers Danlos Syndrome, Ecchymotic Type

Ehlers-Danlos Syndrome Type Iv

Ehlers-Danlos Syndrome 4

Ehlers-Danlos Syndrome Arterial Type

Ehlers-Danlos Syndrome Ecchymotic Type

Ehlers-Danlos Syndrome, Type 4 Variant

Ehlers-Danlos, Vascular Type Syndrome

Aortic Aneurysm, Familial Abdominal, 1

Abdominal Aortic Aneurysm

Aortic Aneurysm, Familial Abdominal 1

Aneurysm, Abdominal Aortic


Aortic Aneurysm, Abdominal


Aortic Aneurysm, Familial Abdominal

Aortic Aneurysm Abdominal

Abdominal Aortic Aneurysms

Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

Abdomen Aneurysm

Abdominal Aorta Aneurysm

Aneurysm Of Abdominal Aorta

Aortic Abdomen Aneurysm

Aaa - [Abdominal Aortic Aneurysm]

Abdominal Aneurysm

Abdominal Aorta Aneurysm Rupture

Abdominal Aorta Aneurysm Ruptured

Abdominal Aortic Aneurysm Which Has Ruptured

Ruptured Aaa

Abdomen Aorta Aneurysm Ruptured

Abdomen Aorta Rupture

Abdomen Aortic Aneurysm Rupture

Abdomen Aneurysm Rupture

Abdomen Aortic Aneurysm Ruptured

Abdomen Aortic Rupture

Abdominal Aorta Rupture

Abdominal Aortic Rupture

Rupture Abdomen Aorta Aneurysm

Rupture Abdominal Aortic Aneurysm

Ruptured Abdomen Aneurysm

Ruptured Abdomen Aorta

Ruptured Abdomen Aortic

Ruptured Abdominal Aneurysm

Ruptured Abdominal Aorta

Ruptured Abdominal Aortic

Ruptured Aorta Abdominalis Aneurysm

False Abdomen Aorta Aneurysm Ruptured

False Abdominal Aortic Aneurysm Ruptured

False Abdominal Aorta Aneurysm Ruptured

False Abdomen Aortic Aneurysm Ruptured


Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis


Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Menkes Disease

Copper Transport Disease

Menkes Syndrome


Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome


Steely Hair Syndrome

Menkea Syndrome


Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease

Pelvic Organ Prolapse

Rectal Prolapse

Pelvic Organ Prolapse, Susceptibility To, 1

Pelvic Organ Prolapse, Susceptibility To

Prolapse Of Vagina And Rectum

Vaginal Prolapse

Pelvic Organ Prolapse 1

Procidentia, Rectum

Prolapse Of Rectal Mucosa

Procidentia Of Rectum

Rectal Mucosa Prolapse

Rectum Prolapse

Procidentia Rectum

Rp - [Rectal Prolapse]

Male Proctocele

Male Rectocele


Female Genital Prolapse

Female Prolapse

Incompetence Of Pelvic Fundus

Relaxation Of Perineum

Deficiency Of Perineum

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Aat Deficiency



Emphysema Due To Aat Deficiency

A1at Deficiency

Emphysema-Cirrhosis, Due To Aat Deficiency

Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

Alpha-1 Antiprotease Deficiency

Alpha 1 Antitrypsin Deficiency


Alpha-1 Protease Inhibitor Deficiency

Alpha-1 Related Emphysema

Genetic Emphysema

Hereditary Pulmonary Emphysema

Inherited Emphysema

Alpha-1-Proteinase Inhibitor Deficiency

Alpha1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

Emphysema, Hereditary Pulmonary

Aatd - [Alpha-1-Antitrypsin] Deficiency

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder



Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification


Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Adult Respiratory Distress Syndrome

Acute Respiratory Distress Syndrome


Non-Cardiogenic Pulmonary Edema

Acute Lung Injury

Respiratory Distress Syndrome, Adult

Shock Lung

Acute Respiratory Distress

Respiratory Distress Syndrome

Adult Rds


Increased-Permeability Pulmonary Edema

Stiff Lung

Respiratory Distress Syndrome Adult

Open-Angle Glaucoma

Glaucoma Simplex

Pigmentary Glaucoma

Wide-Angle Glaucoma

Glaucoma, Open-Angle

Open Angle Glaucoma

Glaucoma Open-Angle

Chronic Simple Glaucoma

Coag - [Chronic Open-Angle Glaucoma]

Csg - [Chronic Simple Glaucoma]

Poag - [Primary Open-Angle Glaucoma]

Oag - [Open-Angle Glaucoma]

Chronic Glaucoma

Chronic Open Angle Glaucoma

Simple Glaucoma

Chronic Noncongestive Glaucoma

Ltg - [Low Tension Glaucoma]

Noncongestive Glaucoma

Nonobstructive Glaucoma

Normal Pressure Glaucoma

Primary Low Tension Glaucoma

Low-Tension Glaucoma

Residual Stage Low Tension Glaucoma

Open Cleft Glaucoma


Pneumothorax Nos

Air Leak Nos

Pleural Air Leak Nos

Elastosis Perforans Serpiginosa


Elastoma Intrapapillare Perforans Verruciformis

Miescher Elastoma

Costello Syndrome

Faciocutaneoskeletal Syndrome

Fcs Syndrome

Congenital Myopathy With Excess Of Muscle Spindles




Myopathy, Congenital, With Excess Of Muscle Spindles

Collagen Disease

Collagen Diseases

Collagen Disorder

Ehlers-Danlos Syndrome


Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Varicose Veins



Venous Ectasia

Venous Varices


Gm1 Gangliosidosis

Beta-Galactosidase Deficiency

Gangliosidosis Gm1

Deficiency Of Beta-Galactosidase

Beta Galactosidase 1 Deficiency


Glb 1 Deficiency

Beta-Galactosidase-1 Deficiency

Beta-Galactosidase-1 Deficiency

Glb1 Deficiency

Landing Disease

Gangliosidosis, Gm1


Tight Foreskin

Tight Frenulum

Congenital Phimosis



Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma


Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma


Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Idiopathic Scoliosis

Scoliosis Idiopathic

Cerebral Aneurysms

Cerebral Aneurysm

Cerebral Arterial Aneurysm

Pulmonary Fibrosis

Fibrosis Of Lung




Lung Lymphangioleiomyomatosis

Pulmonary Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, Somatic


Pulmonary Disease, Chronic Obstructive

Chronic Obstructive Pulmonary Disease


Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Chronic Obstructive Lung Disease

Chronic Obstructive Airway Disease

Pulmonary Disease, Chronic Obstructive, Susceptibility To


Severe Early-Onset Chronic Obstructive Pulmonary Disease

Pulmonary Disease Chronic Obstructive

Pulmonary Disease, Obstructive, Chronic, Susceptibility To

Chronic Obstructive Pulmonary Disease Of Horses

Common Cold

Upper Respiratory Infections

Copd - [Chronic Obstructive Pulmonary Disease]

Coad - [Chronic Obstructive Airways Disease]

Cold - [Chronic Obstructive Lung Disease]

Chronic Airway Disease Nos

Chronic Airways Limitation, Unspecified

Chronic Obstructed Airway, Unspecified

Chronic Obstructive Airway Disease, Unspecified

Chronic Obstructive Airway, Unspecified

Obstructive Lung Disease Nos

Chronic Obstructive Lung Disease Nos

Chronic Obstructive Lung Nos

Obstructive Pulmonary Disease Nos

Exacerbation Copd Nos

Acute Exacerbation Copd

Phacogenic Glaucoma
Rheumatic Heart Disease

Rheumatic Carditis

Rheumatic Congestive Heart Failure

Congestive Rheumatic Heart Failure

Rheumatic Heart Failure


Rheumatic Fever Inactive Or Quiescent With Heart Disease

Rheumatic Fever Inactive Or Quiescent With Carditis

Organ Rheumatic Heart Disease

Organic Rheumatic Heart Disease

Inactive Rheumatic Heart Disease

Rheumatic Heart

Rheumatic Fever Inactive Or Quiescent With Pancarditis

Rhd - [Rheumatic Heart Disease]

Rheumatic Cardiac Hypertrophy

Rheumatic Fever

Inactive Or Quiescent With Cardiac Hypertrophy

Rheumatic Pancarditis

Inactive Rhd - [Rheumatic Heart Disease]

Rheumatic Nonischaemic Cardiopathy

Oral Submucous Fibrosis

Oral Submucosal Fibrosis, Including Of Tongue


Oral Cavity Submucous Fibrosis

Oral Submucosal Fibrosis

Submucosal Fibrosis

Aortic Valve Insufficiency

Aortic Regurgitation

Rheumatic Aortic Regurgitation

Aortic Insufficiency

Rheumatic Aortic Insufficiency

Rheumatic Aortic Valve Insufficiency

Aortic Incompetence

Corrigan'S Disease

Rheumatic Aortic Valve Regurgitation

Aortic Valve Incompetency

Ai - [Aortic Incompetence]

Incompetent Aortic Valve

Ar - [Aortic Regurgitation]

Calcific Aortic Valve Regurgitation

Myxomatous Aortic Valve Regurgitation

Annular Incompetency Of Aortic Valve

Austin Flint Murmur

Flint Murmur

Rheumatic Aortic Incompetence

Rheumatic Ai - [Aortic Insufficiency]

Intraocular Pressure Quantitative Trait Locus



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

Autosomal Recessive Cutis Laxa Type I

Autosomal Recessive Cutis Laxa Type 1

Cutis Laxa, Type 1

Cutis Laxa, Autosomal Recessive, Type I

Cutis Laxa, Autosomal Recessive Type 1

Cutis Laxa, Autosomal Recessive


Autosomal Recessive Cutis Laxa With Severe Systemic Involvement

Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type

Cutis Laxa, Autosomal Recessive, Type Ia


Cutis Laxa, Autosomal Recessive

Autosomal Recessive Cutis Laxa Type Ia

Cutis Laxa, Autosomal Recessive, Type 1a


Cutis Laxa, Autosomal Recessive, 1a

Cl Type I

Cutis Laxa Autosomal Recessive Type I

Cutis Laxa Autosomal Recessive Type Ia

Cutis Laxa, Autosomal Recessive, Type I


Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos



Arterial Tortuosity Syndrome

Arterial Tortuosity



Tortuosity, Arterial, Syndrome

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Bladder Diverticulum

Diverticulum Of Bladder

Diverticulum - Bladder

Bladder Diverticula

Vesical Diverticulum

Bladder Sacculation

Kawasaki Disease

Mucocutaneous Lymph Node Syndrome

Acute Febrile Mucocutaneous Lymph Node Syndrome

Kawasaki Syndrome


Infantile Polyarteritis

Kawasaki Disease, Susceptibility To

Acute Febrile Mcls

Kawasaki'S Disease



Atherosclerosis Susceptibility


Atherosclerosis, Susceptibility To


Atherogenic Lipoprotein Phenotype



Angioid Streaks
Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Peyronie'S Disease

Induratio Penis Plastica

Peyronie Disease

Peyronies Disease

Peyronie'S Fibromatosis

Penile Induration

Balanitis Xerotica Obliterans

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

Subclavian Artery Aneurysm

Aneurysm Of Subclavian Artery

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia


Congenital Diaphragmatic Defect

Hernia, Diaphragmatic


Hernia, Congenital Diaphragmatic


Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly

Beals Syndrome


Beals-Hecht Syndrome

Distal Arthrogryposis Type 9

Arthrogryposis, Distal, Type 9


Arachnodactyly, Contractural Beals Type

Contractures, Multiple With Arachnodactyly

Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

Arthrogyroposis, Distal, Type 9

Distal Arthrogyropsis Type 9

Cca Syndrome


Intravascular Fasciitis

Intravascular Pseudosarcomatous Fasciitis

Mitral Valve Disease

Chronic Rheumatic Mitral Valve

Rheumatic Mitral Insufficiency

Disease Of Mitral Valve

Mitral Rh Valve Dis.

Rheumatic Disease Of Mitral Valve

Rheumatic Mitral Valve Changes

Rheumatic Mitral Valve Incompetence

Rheumatic Mitral Valve Regurgitation

Abnormality Of The Mitral Valve

Diseases Of Mitral Valve

Rheumatic Mitral Regurgitation

Heart Valve Disease

Heart Valve Diseases

Valvular Heart Disease

Valvular Heart Diseases

Heart Valve Prolapse

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome


Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Cystic Fibrosis



Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Stiff Skin Syndrome


Stiff Skin

Steroid-Induced Glaucoma

Corticosteroid-Induced Glaucoma

Occipital Horn Syndrome


Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type


Ehlers-Danlos Syndrome Occipital Horn Type

Necrobiosis Lipoidica

Oppenheim-Urbach Disease

Necrobiosis Lipoidica Diabeticorum

Plasma Protein Metabolism Disease


Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Cutis Laxa, Autosomal Recessive, Type Ib


Cutis Laxa, Autosomal Recessive, Type 1b

Autosomal Recessive Cutis Laxa Type Ib

Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency

Cutis Laxa, Autosomal Recessive, 1b

Cutis Laxa Autosomal Recessive Type Ib



Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency


Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Cerebral Arterial Disease

Cerebral Arterial Diseases

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias


Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Hutchinson-Gilford Progeria Syndrome



Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Palmoplantar Keratoderma, Punctate Type Iii

Acrokeratoelastoidosis Of Costa


Punctate Palmoplantar Keratoderma Type Iii


Keratoderma, Palmoplantar, Punctate Type 3

Punctate Palmoplantar Hyperkeratosis Type 3

Punctate Palmoplantar Keratoderma Type 3

Rare Form Of Hirschsprung'S Disease


Collagenous Plaques Of Hands And Feet

Aganglionosis, Total Intestinal

Collagenous Plaques Of Hand And Feet

Palmoplantar Keratoderma, Punctate Type 3

Aganglionosis, Total Colonic


Near-Total Intestinal Aganglionosis


Iris Disease

Iris Diseases

Wrinkly Skin Syndrome


Wrinkled Skin Syndrome

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Lichen Sclerosus Et Atrophicus

Lichen Sclerosus


Lichen Sclerosis

Lichen Sclerosis Et Atrophicus

Ls Et A - [Lichen Sclerosus Et Atrophicus]

Lichen Albus

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type

Chronic Venous Insufficiency
Papillary Squamous Carcinoma

Papillary Epidermoid Carcinoma

Papillary Squamous Cell Carcinoma

Tracheal Stenosis

Stenosis Of Trachea

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Loeys-Dietz Syndrome 4


Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome Type 4

Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome, Type 4

Mitral Valve Insufficiency

Mitral Regurgitation

Congenital Insufficiency Of Mitral Valve

Congenital Mitral Insufficiency

Congenital Mitral Regurgitation

Mitral Valve Incompetence

Mitral Valve Regurgitation

Mr - [Mitral Regurgitation]

Mi - [Mitral Incompetence]

Mitral Valve Annular Incompetency

Congenital Mitral Valve Incompetence

Congenital Mitral Valve Insufficiency

Congenital Mitral Valve Regurgitation

Congenital Mitral Incompetence

Decubitus Ulcer

Pressure Ulcer

Pressure Sores

Pressure Ulcers


Decubitus Ulcer

Decubitus Ulcer Any Site

Hypertension, Essential

Essential Hypertension


High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension


Hypertension, Salt-Sensitive Essential, Susceptibility To


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


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

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis



Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis


Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Granulomatosis With Polyangiitis


Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis


Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases


Disease Of Lips

Microcephaly And Chorioretinopathy 1
Chromosomal Deletion Syndrome
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis


Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome


Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

Polycystic Kidney Disease 4
Patent Ductus Arteriosus 1

Patent Ductus Arteriosus



Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome


Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Ureteric Orifice Cancer

Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder

Malignant Tumor Of Ureteric Orifice

Orifice Of The Ureter

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1


Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy



Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita


Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome


Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11


Osteogenesis Imperfecta Type Xi

Oi, Type Xi

Osteogenesis Imperfecta 11

Oi Type Xi


Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder


Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital


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

Stickler Syndrome


Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct


Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Skin Disease

Skin Diseases


Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy



Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Hypoplastic Left Heart Syndrome


Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium


Lobstein Disease


Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Gummatous Syphilis
Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis


Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis


Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic


Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Micronodular Basal Cell Carcinoma

Skin Micronodular Basal Cell Carcinoma

Basal Cell Carcinoma, Micronodular

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like



Ehlers-Danlos Syndrome Spondylodysplastic Type 3

Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type

Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome

Slc39a13-Related Speds

Slc39a13-Related Spondylodysplastic Eds

Spondylocheirodysplastic Ehlers-Danlos Syndrome


Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia

Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial


Skeletal Dysplasia


Congenital Anomaly Of Cartilage


Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv


Ras/Mitogen-Activated Protein Kinase Syndrome

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd


Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Tetralogy Of Fallot


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]

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia


Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated


Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy


Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

疾病名称 别名
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


种属 基因名 来源 基因 ID
Macaca mulatta ELN VGNC VGNC:84746
Rattus norvegicus ELN RGD RGD:67394
Canis familiaris ELN VGNC VGNC:54018
Mus musculus ELN MGD MGI:95317
Felis catus ELN VGNC VGNC:107754