ELN - elastin Gene

Also Known as WS; WBS; SVAS; ADCL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2006

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11805834	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	8132745	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in elastic fiber	IDA IDA: Inferred from direct assay	7534784	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

Protein Preferred Names	Protein Names
elastin	tropoelastin

ELN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ELN	P15502	LOX	Homo sapiens	P28300	SPR	19570982
Intra	ELN	P15502	EFEMP2	Homo sapiens	O95967	SPR	19570982
Intra	ELN	P15502	EFEMP2	Homo sapiens	O95967	ELISA	19570982
Intra	ELN	P15502	FBLN5	Homo sapiens	Q9UBX5	SPR	19570982

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Supravalvular Aortic Stenosis	SVAS 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 ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Williams-Beuren Syndrome	Williams Syndrome WBS Wms 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 Ws
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Pulmonary Emphysema
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Aortic Disease	Aortic Diseases Aortic Disorder Disorder Of The Aorta
Buschke-Ollendorff Syndrome	BOS Dermatoosteopoikilosis 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 Aneurysm 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	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Arteriosclerosis	Arteriosclerotic Vascular Disease
Aortic Dissection
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd 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 AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad 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 Eds4 Vascular Ehlers-Danlos Syndrome Veds Sack-Barabas Syndrome EDSVASC 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 AAA Aortic Aneurysm, Abdominal AAA1 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
Osteopoikilosis	Osteopathia Condensans Disseminata Spotted Bones Dermatofibrosis Lenticularis Disseminata
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 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 MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md 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 Proctoptosis 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 Aatd A1ATD 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 Aat 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
Elephantiasis
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd 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 Ards Non-Cardiogenic Pulmonary Edema Acute Lung Injury Respiratory Distress Syndrome, Adult Shock Lung Acute Respiratory Distress Respiratory Distress Syndrome Adult Rds Ali 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	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
Elastosis Perforans Serpiginosa	EPS Elastoma Intrapapillare Perforans Verruciformis Miescher Elastoma
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Collagen Disease	Collagen Diseases Collagen Disorder
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Varicose Veins	Varices Varix Venous Ectasia Venous Varices Varicosity
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Gangliosidosis	Gangliosidoses
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E 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
Lymphangioleiomyomatosis	Lymphangiomyomatosis LAM Lung Lymphangioleiomyomatosis Pulmonary Lymphangioleiomyomatosis Lymphangioleiomyomatosis, Somatic Lymphangio-Myomatosis
Perineocele
Pulmonary Disease, Chronic Obstructive	Chronic Obstructive Pulmonary Disease COPD Pulmonary Disease, Chronic Obstructive, Severe Early-Onset Chronic Obstructive Lung Disease Chronic Obstructive Airway Disease Pulmonary Disease, Chronic Obstructive, Susceptibility To Cold 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 RHD 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 Osmf 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 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
Erysipelas
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 Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Cutis Laxa, Autosomal Recessive, Type Ia	ARCL1A Cutis Laxa, Autosomal Recessive Autosomal Recessive Cutis Laxa Type Ia Cutis Laxa, Autosomal Recessive, Type 1a Arcl1 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
Bronchiectasis	Polynesian Bronchiectasis Kartagener Syndrome Bronchiectasis Nos
Telangiectasis	Telangiectasia
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS 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
Aortitis
Kawasaki Disease	Mucocutaneous Lymph Node Syndrome Acute Febrile Mucocutaneous Lymph Node Syndrome Kawasaki Syndrome Kd Infantile Polyarteritis Kawasaki Disease, Susceptibility To Acute Febrile Mcls Kawasaki'S Disease Mlns KWD
Atherosclerosis Susceptibility	Atherosclerosis Atherosclerosis, Susceptibility To ATHS Atherogenic Lipoprotein Phenotype Alp Arteriosclerosis
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 Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd 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 CCA Beals-Hecht Syndrome Distal Arthrogryposis Type 9 Arthrogryposis, Distal, Type 9 Da9 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 Arachnodactyly
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 Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Cystic Fibrosis	Mucoviscidosis CF 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	SSKS Stiff Skin
Steroid-Induced Glaucoma	Corticosteroid-Induced Glaucoma
Occipital Horn Syndrome	OHS 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 Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Necrobiosis Lipoidica	Oppenheim-Urbach Disease Necrobiosis Lipoidica Diabeticorum
Plasma Protein Metabolism Disease
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B 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
Scoliosis
Homocysteinemia	Hyperhomocysteinemia
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 OI 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 Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS 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 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
Iris Disease	Iris Diseases
Wrinkly Skin Syndrome	WSS 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 LSA 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	LDS4 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 Bedsore Decubitus Ulcer Decubitus Ulcer Any Site
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
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
Granulomatosis With Polyangiitis	GPA Wegener Granulomatosis Wegener Granulomatosis, Formerly Midline Granulomatosis Wg, Formerly Necrotizing Respiratory Granulomatosis Wg Wegeners Granulomatosis Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis
Lymphoid Interstitial Pneumonia	Lymphocytic Interstitial Pneumonia Lip Disease Lip Diseases LIP Disease Of Lips
Microcephaly And Chorioretinopathy 1
Chromosomal Deletion Syndrome
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Polycystic Kidney Disease 4
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda 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 Wms 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 ARMD1 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 Amd Armd 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 Arthrogryposis 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 Amc 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 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-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 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
Stickler Syndrome	Arthroophthalmopathy 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 MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc 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	Hlhs 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 Osteopsathyrosis Lobstein Disease Oi 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 Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip 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 Scd-Eds EDSSPD3 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 Speds-Slc39a13 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
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Rasopathy	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 Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc 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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-50882	ELN318463	Inhibitor	99.45%	Unkown
HY-15043	ELN-441958	Antagonist	99.17%	Unkown
HY-115038	ELN484228	Antagonist	99.86%	Unkown
HY-RS04316	ELN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-50882A	ELN318463 racemate	Inhibitor	/	Unkown
HY-RS20236	Eln Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26743	Eln Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ELN	NCBI