FBN1 - fibrillin 1 Gene

Also Known as FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2200

About FBN1

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:48,408,313-48,645,709 (from NCBI)

This gene has 13 transcripts (splice variants), 222 orthologues, 2 paralogues and is associated with 26 phenotypes. Broad expression in placenta (RPKM 47.2), fat (RPKM 27.5) and 20 other tissues.

Summary

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]

FBN1 Products (4)

mRNA	Protein	Name
NM_000138.5	NP_000129.3	fibrillin-1 isoform a preproprotein
NM_001406716.1	NP_001393645.1	fibrillin-1 isoform a preproprotein
NM_001406717.1	NP_001393646.1	fibrillin-1 isoform b preproprotein
NM_001406718.1	NP_001393647.1	fibrillin-1 isoform c preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	7691719	GOA
enables extracellular matrix structural constituent	IDA IDA: Inferred from direct assay	3536967	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	11461921	GOA
enables hormone activity	IDA IDA: Inferred from direct assay	27087445	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18448684	GOA
enables integrin binding	IPI IPI: Inferred from physical interaction	12807887	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12429738	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	15062093	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of protein kinase A activity	IDA IDA: Inferred from direct assay	27087445	GOA
involved in camera-type eye development	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in cell adhesion mediated by integrin	IDA IDA: Inferred from direct assay	12807887	GOA
involved in embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in glucose homeostasis	IDA IDA: Inferred from direct assay	27087445	GOA
involved in glucose metabolic process	IDA IDA: Inferred from direct assay	27087445	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	15781745	GOA
involved in negative regulation of osteoclast development	IDA IDA: Inferred from direct assay	24039232	GOA
involved in negative regulation of osteoclast differentiation	IDA IDA: Inferred from direct assay	24039232	GOA
involved in post-embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in protein kinase A signaling	IDA IDA: Inferred from direct assay	27087445	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	8188302	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	3536967	GOA
located in extracellular matrix	IDA IDA: Inferred from direct assay	3536967	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	11461921	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	3536967	GOA
located in microfibril	IDA IDA: Inferred from direct assay	1860873	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

FBN1 Protein Structure

EGF_CA

cEGF

EGF_CA

FXa_inhibition

EGF_CA

0
500
1000
1500
2000
2500
2871 a.a.

Protein Preferred Names	Protein Names
fibrillin-1	asprosin

FBN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FBN1	P35555	FN1	Homo sapiens	P02751	Solid Phase Assay	25034023
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	Pull Down	24035709
Intra	FBN1	P35555	SGTB	Homo sapiens	Q96EQ0	Validated Y2H	32296183
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	Solid Phase Assay	18448684
Intra	FBN1	P35555	GET4	Homo sapiens	Q7L5D6	Y2H Array	32296183
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	3D-EM	18448684
Intra	FBN1	P35555	GET4	Homo sapiens	Q7L5D6	Validated Y2H	32296183
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	Solid Phase Assay	25034023
Intra	FBN1	P35555	EFEMP2	Homo sapiens	O95967	SPR	19570982
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	Comigration in SDS	18448684
Intra	FBN1	P35555	FBN1	Homo sapiens	P35555	GMS	18448684
Intra	FBN1	P35555	FBN2	Homo sapiens	P35556	Solid Phase Assay	25034023
Intra	FBN1	P35555	FBLN5	Homo sapiens	Q9UBX5	ELISA	19570982

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FBN1 Proteins

Cat. No.	상품명	Accession	Purity
HY-P7612	Fibrillin-1/Asprosin Protein, Human (HEK293, His)	P35555 (S2732-H2871)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
Stiff Skin Syndrome	SSKS Stiff Skin
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Marfanoid-Progeroid-Lipodystrophy Syndrome	Progeroid And Marfanoid Aspect-Lipodystrophy Syndrome MFLS Marfan Lipodystrophy Syndrome Marfanoid-Progeroid Syndrome Marfan-Progeroid-Lipodystrophy Syndrome Lipodystrophy, Marfan Syndrome
Geleophysic Dysplasia 2	GPHYSD2 Geleophysic Dwarfism Dysplasia, Geleophysic, Type 2 Geleophysic Dysplasia
Ectopia Lentis 1, Isolated, Autosomal Dominant	ECTOL1 Ectopia Lentis, Familial Autosomal Dominant Isolated Ectopia Lentis 1
Weill-Marchesani Syndrome 2	Gemss Weill-Marchesani Syndrome 2, Dominant WMS2 Weill-Marchesani Syndrome, Autosomal Dominant Spherophakia-Brachymorphia Syndrome Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Gemss Syndrome Mesodermal Dysmorphodystrophy, Congenital Glaucoma, Ectopia, Microspherophakia, Stiff Joints And Short Stature Syndrome Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome Autosomal Dominant Weill-Marchesani Syndrome Congenital Mesodermal Dysmorphodystrophy Weill-Marchesani Syndrome Weill-Marchesani Syndrome, Autosomal Recessive
Isolated Ectopia Lentis	Familial Ectopia Lentis Ectopia Lentis Ectopia Lentis Syndrome Lens Subluxation Iel Congenital Ectopia Lentis Subluxation Of Lens Ectopia Lentis, Isolated Ectopia Lentis Isolated
Neonatal Marfan Syndrome	Neonatal Mfs
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
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
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Aortic Dissection
Lens Subluxation	Subluxation Of Lens
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
Pectus Carinatum	Carinatum Deformity Of The Chest
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
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
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
Perrault Syndrome 1	PRLTS1 Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis Xx Type Deafness Gonadal Dysgenesis, Xx Type, With Deafness Gonadal Dysgenesis Xx Type With Deafness
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
Brugada Syndrome 1	BRGDA1 Sudden Unexplained Nocturnal Death Syndrome Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sunds Brugada Syndrome, Type 1 Brugada Syndrome
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arc Syndrome ARCS1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Arcs Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, And Cholestasis Arthrogryposis-Renal Dysfunction-Cholestasis Arthrogryposis - Renal Dysfunction - Cholestasis Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1 Arthrogryposis Renal Dysfunction And Cholestasis 1 Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 Kidney Failure Renal Insufficiency
Aortic Aneurysm, Familial Thoracic 4	AAT4 Faa4 Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus Familial Aortic Aneurysm 4 Non-Syndromic Thoracic Aortic Aneurysms And Dissection Taad Thoracic Aortic Aneurysms And Dissection Thoracic Aortic Aneurysms And Dissections Aneurysm, Aortic, Thoracic, Familial, Type 4
Scoliosis
Hypermobile Ehlers-Danlos Syndrome	Heds Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Hypermobility Type Hypermobile Eds Joint Hypermobility Benign Joint Hypermobility Syndrome Eds Hypermobility Type Eds Type Iii Ehlers-Danlos Syndrome Type Iii Joint Hypermobility Syndrome Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
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
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
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
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
Protrusio Acetabuli
Aortic Disease	Aortic Diseases Aortic Disorder Disorder Of The Aorta
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Shprintzen-Goldberg Craniosynostosis Syndrome	Shprintzen-Goldberg Syndrome Marfanoid Craniosynostosis Syndrome SGS Craniosynostosis With Arachnodactyly And Abdominal Hernias Marfanoid-Craniosynostosis Syndrome Marfanoid Disorder With Craniosynostosis, Type I Marfanoid Disorder With Craniosynostosis Type 1 Shprintzen-Goldberg Marfanoid Syndrome Marfanoid Disorder With Craniosynostosis Type I
Beaulieu-Boycott-Innes Syndrome	BBIS Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Microcephaly, Mental Retardation, And Distinctive Facies, With Cardiac And Genitourinary Malformations
Progeroid Syndrome
Weill-Marchesani Syndrome 1	Spherophakia-Brachymorphia Syndrome WMS1 Weill-Marchesani Syndrome, Autosomal Recessive Mesodermal Dysmorphodystrophy, Congenital Weill-Marchesani Syndrome 1, Recessive Autosomal Recessive Weill-Marchesani Syndrome Congenital Mesodermal Dysmorphodystrophy Weill-Marchesani Syndrome Weill-Marchesani Syndrome, Autosomal Dominant
Bullous Keratopathy	Bk - [Bullous Keratopathy]
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Tracheal Stenosis	Stenosis Of Trachea
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
Pneumothorax	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Tricuspid Valve Prolapse
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]
Diaphragmatic Eventration
Idiopathic Scoliosis	Scoliosis Idiopathic
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
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
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
Achard Syndrome	Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
Phacolytic Glaucoma
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
Loeys-Dietz Syndrome 3	LDS3 Aneurysms-Osteoarthritis Syndrome Loeys-Dietz Syndrome With Osteoarthritis Aneurysm-Osteoarthritis Syndrome Lds1c Loeys-Dietz Syndrome, Type 3 Loeys-Dietz Syndrome, Type 1c, Formerly Lds1c, Formerly Loeys-Dietz Syndrome Type 1c Loeys-Dietz Syndrome Type 3 Aneurysm - Osteoarthritis Syndrome Loeys-Dietz Syndrome, Type 1c Aos Loeys-Dietz Syndrome 1c
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]
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
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Scleroderma, Familial Progressive	Systemic Sclerosis Systemic Scleroderma Systemic Sclerosis, Susceptibility To Sclerosis Systemic Crest Syndrome Progressive Scleroderma
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
Subclavian Artery Aneurysm	Aneurysm Of Subclavian Artery
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
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS Tortuosity, Arterial, Syndrome
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
Loeys-Dietz Syndrome 1	Furlong Syndrome Loeys-Dietz Aortic Aneurysm Syndrome LDS1 Aat5 Loeys-Dietz Syndrome Type 1 Aortic Aneurysm, Familial Thoracic 5 Familial Throacic Aortic Aneurysm 5 Loeys-Dietz Syndrome Aortic Aneurysm Syndrome, Loeys-Dietz Type Familial Thoracic Aortic Aneurysm 5 Ldas Marfanoid Disorder-Craniosynostosis Syndrome Aneurysm, Aortic, Thoracic, Familial, Type 5 Loeys-Dietz Syndrome, Type 1 Loeys-Dietz Syndrome, Type 2a
Geleophysic Dysplasia 1	GPHYSD1 Geleophysic Dwarfism Geleophysic Dysplasia
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Retinitis Pigmentosa 46	RP46 Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related Retinitis Pigmentosa Autosomal Recessive Idh3b-Related Retinitis Pigmentosa, Type 46
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Hemopericardium	Haemopericardium Pericardial Effusion Haematopericardium Pneumohemopericardium Pericardium Haemorrhage Haemorrhagic Pericarditis
Loeys-Dietz Syndrome 5	Rienhoff Syndrome LDS5 Rnhf Reinhoff Syndrome Loeys-Dietz Syndrome, Type 5
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
Enophthalmos
Loeys-Dietz Syndrome 2	LDS2 Aat3 Marfan Syndrome Type 2 Aortic Aneurysm, Familial Thoracic 3 Marfan Syndrome Type Ii Loeys-Dietz Syndrome Type 2 Mfs2 Marfan Syndrome, Type Ii, Formerly Familial Throacic Aortic Aneurysm 3 Familial Aortic Aneurysm Thoracic Type 3 Taad2 Thoracic Aortic Aneurysms And Dissection 2 Aneurysm, Aortic, Thoracic, Familial, Type 3 Loeys-Dietz Syndrome, Type 2
Varicose Veins	Varices Varix Venous Ectasia Venous Varices Varicosity
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
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
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Brachydactyly
Dental Anomalies And Short Stature	Brachyolmia-Amelogenesis Imperfecta Syndrome Platyspondyly With Amelogenesis Imperfecta DASS Verloes Bourguignon Syndrome Verloes-Bourguignon Syndrome Vbs Sthag6 Tooth Agenesis, Selective, 6 Tooth Agenesis, Selective, 6, Formerly Sthag6, Formerly Selective Tooth Agenesis 5 Amelogenesis Imperfecta And Platyspondyly Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly Platyspondyly-Amelogenesis Imperfecta Syndrome
Phacogenic Glaucoma
Megalocornea	Isolated Congenital Megalocornea Congenital Anterior Megalophthalmia Anterior Megalophthalmos Mgc1 Mgcn Congenital Keratoglobus
Geleophysic Dysplasia 3	GPHYSD3
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]
Calcinosis	Pathologic Calcification Pathologically Calcified Structure
Cornea Plana	Flat Cornea
Collagen Disease	Collagen Diseases Collagen Disorder
Telangiectasis	Telangiectasia
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
Bone Structure Disease
Refractive Error	Refractive Errors
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Systemic Scleroderma	Scleroderma Progressive Systemic Sclerosis Systemic Sclerosis Scleroderma, Systemic Scleroderma Syndrome Dermatosclerosis Familial Progressive Scleroderma Progressive Scleroderma Scleroderma Disease Scleroderma, Localized Diffuse Scleroderma Scleroderma, Familial Progressive
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
Heart Valve Disease	Heart Valve Diseases Valvular Heart Disease Valvular Heart Diseases Heart Valve Prolapse
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Cutis Laxa, Autosomal Recessive, Type Ic	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ARCL1C Urban-Rifkin-Davis Syndrome Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies URDS Autosomal Recessive Cutis Laxa Type Ic Autosomal Recessive Cutis Laxa Type 1c Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
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]
Ectopia Lentis 2, Isolated, Autosomal Recessive	ECTOL2 Ectopia Lentis, Isolated, Autosomal Recessive Autosomal Recessive Isolated Ectopia Lentis 2 Autosomal Recessive Isolated Ectopia Lentis Ectopia Lentis, Isolated Autosomal Recessive Ectopia Lentis, Isolated Autosomal Recessive, Type 2
Hypermobility Syndrome	Benign Joint Hypermobility
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Pneumothorax, Primary Spontaneous	Primary Spontaneous Pneumothorax Spontaneous Pneumothorax Familial Spontaneous Pneumothorax PSP Pneumothorax
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Morgagni Cataract	Hypermature Cataract Morgagnian Cataract
Arteriosclerosis	Arteriosclerotic Vascular Disease
Tricuspid Valve Disease	Rheumatic Tricuspid Valve Disease Disease Of Tricuspid Valve Rh. Tricuspid Valve Disease Rheumatic Disease Of Tricuspid Valve Tricuspid Disease Tricuspid Valve Disorder
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
Pulmonary Valve Insufficiency	Pulmonary Regurgitation Pulmonary Incompetence Pulmonary Incompetence, Non-Rheumatic Pulmonary Insufficiency Following Trauma And Surgery Pulmonary Regurg. Pulmonic Insufficiency Pulmonic Valve Regurgitation Pulmonary Valve Incompetence Pulmonary Valve Incompetency Pulmonary Valvular Insufficiency Pulmonary Valvular Regurgitation Pulmonary Valvular Incompetency Pulmonary Valve Incompetence Nos Annular Incompetency Pulmonary Valve Incompetent Pulmonary Valve Graham Steell Murmur Pulmonary Valvular Incompetence
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Localized Scleroderma	Morphea Localised Scleroderma Localized Fibrosing Scleroderma Circumscribed Scleroderma Localised Morphea Localised Morphoea Localized Morphea Scleroderma, Circumscribed Or Localised Scleroderma, Circumscribed Or Localized Scleroderma, Localized
Pulmonary Valve Disease	Pulmonary Valve Disorder
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Orbital Disease	Orbit Orbital Diseases
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
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
Ureteric Orifice Cancer	Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder Malignant Tumor Of Ureteric Orifice Orifice Of The Ureter
Lens Disease	Lens Diseases
Tricuspid Valve Insufficiency	Tricuspid Regurgitation Tricuspid Valve Regurgitation Tricuspid Incompetence Tr - [Tricuspid Regurgitation] Tricuspid Valve Incompetency Tricuspid Valve Annular Incompetency
Marshall-Smith Syndrome	MRSHSS Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome Mss
Iris Disease	Iris Diseases
Aortitis
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
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Bone Development Disease
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Scleredema Adultorum	Scleredema Buschke'S Scleredema Scleredema Adultorum Of Buschke Scleredema Diabeticorum Scleredema Diabeticorum Of Buschke Buschke Scleredema
Mitochondrial Dna Depletion Syndrome 12b
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
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
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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
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
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
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
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Orofacial Cleft	Cleft, Orofacial
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
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

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 (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS04776	FBN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17804	Fbn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24272	Fbn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FBN1	VGNC	VGNC:62169
Canis familiaris	FBN1	VGNC	VGNC:40754
Bos taurus	FBN1	VGNC	VGNC:28885
Rattus norvegicus	FBN1	RGD	RGD:620908
Macaca mulatta	FBN1	VGNC	VGNC:72623
Mus musculus	FBN1	MGD	MGI:95489
Others	FBN1	NCBI