1. Gene
  2. FBN1 - fibrillin 1 Gene

FBN1 - fibrillin 1 Gene

Homo sapiens

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

Gene ID: 2200 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

TB

TB: TB domain (193 - 234)

EGF_CA

EGF_CA: Calcium-binding EGF domain (246 - 286)

EGF_CA

EGF_CA: Calcium-binding EGF domain (288 - 328)

TB

TB: TB domain (343 - 388)

EGF_CA

EGF_CA: Calcium-binding EGF domain (490 - 528)

EGF_CA

EGF_CA: Calcium-binding EGF domain (530 - 570)

cEGF

cEGF: Complement Clr-like EGF-like (593 - 616)

TB

TB: TB domain (668 - 710)

EGF_CA

EGF_CA: Calcium-binding EGF domain (723 - 763)

EGF_CA

EGF_CA: Calcium-binding EGF domain (765 - 805)

TB

TB: TB domain (860 - 898)

EGF_CA

EGF_CA: Calcium-binding EGF domain (910 - 943)

TB

TB: TB domain (966 - 1007)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1028 - 1068)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1070 - 1103)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1113 - 1153)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1155 - 1192)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (1201 - 1236)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1238 - 1278)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1280 - 1320)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1322 - 1357)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1363 - 1402)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1404 - 1444)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1446 - 1485)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1487 - 1525)

TB

TB: TB domain (1548 - 1588)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1606 - 1646)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1648 - 1687)

TB

TB: TB domain (1704 - 1747)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1766 - 1802)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1808 - 1845)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1849 - 1889)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1891 - 1921)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1930 - 1971)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1973 - 2011)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2013 - 2053)

TB

TB: TB domain (2068 - 2110)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2127 - 2158)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2166 - 2200)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2206 - 2245)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2247 - 2289)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2291 - 2331)

TB

TB: TB domain (2347 - 2389)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2402 - 2442)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2444 - 2483)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2485 - 2522)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2524 - 2565)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2567 - 2605)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2607 - 2641)

EGF_CA

EGF_CA: Calcium-binding EGF domain (2648 - 2679)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2871 a.a.
Protein Preferred Names Protein Names

fibrillin-1

asprosin

Recombinant FBN1 Proteins

Cat. No. Product Name Accession Purity
HY-P7612 Fibrillin-1/Asprosin Protein, Human (HEK293, His) P35555 (S2732-H2871) ≥95%

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

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