EFEMP2 - EGF containing fibulin extracellular matrix protein 2 Gene

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

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

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

DHRD

Doyne Honeycomb Degeneration Of Retina

Dhd

Malattia Leventinese

Ml

Mlvt

Dystrophy, Retinal, Doyne Honeycomb

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

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

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

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

Arterial Tortuosity

Ats

ATORS

Tortuosity, Arterial, Syndrome

Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder

Malignant Tumor Of Ureteric Orifice

Orifice Of The Ureter

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

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

ARCL2B

Cutis Laxa With Progeroid Features

Autosomal Recessive Cutis Laxa Type 2b

Autosomal Recessive Cutis Laxa Type Iib

Arcl2, Progeroid Type

Cutis Laxa, Autosomal Recessive Type 2b

Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

Cutis Laxa, Autosomal Recessive, 2b

Cl Type Iib

Cutis Laxa Autosomal Recessive Type Iib

Cutis Laxa, Autosomal Recessive, Type 2b

ADCL2

Autosomal Dominant Cutis Laxa 2

Cutis Laxa, Autosomal Dominant, 2

Cutis Laxa, Autosomal Dominant, Type 2

De Barsy Syndrome

Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome

Progeroid Syndrome, De Barsy Type

Corneal Clouding, Cutis Laxa And Intellectual Disability

Cutis Laxa Growth Deficiency Syndrome

Progeroid Syndrome Of De Barsy

ARCL2A

Cutis Laxa With Joint Laxity And Retarded Development

Cutis Laxa With Growth And Developmental Delay

Cutis Laxa, Debre Type

Cutis Laxa With Bone Dystrophy

Arcl2

Cutis Laxa With Congenital Disorder Of Glycosylation

Autosomal Recessive Cutis Laxa Type Iia

Cutis Laxa, Autosomal Recessive Type 2a

Cutis Laxa, Autosomal Recessive, 2a

Cl Type Iia

Cutis Laxa Autosomal Recessive Type Iia

ARCL3B

De Barsy Syndrome B

Pycr1-Related De Barsy Syndrome

Autosomal Recessive Cutis Laxa Type Iiib

Pycr1 Deficiency

Pyrroline-5-Carboxylate Reductase 1 Deficiency

Cutis Laxa, Autosomal Recessive, 3b

Cutis Laxa Autosomal Recessive Type Iiib

Cutis Laxa, Autosomal Recessive, Type 3b

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

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

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

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

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Diverticulum Of Bladder

Diverticulum - Bladder

Bladder Diverticula

Vesical Diverticulum

Bladder Sacculation

Aortic Diseases

Aortic Disorder

Disorder Of The Aorta

WSS

Wrinkled Skin Syndrome

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]

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

Geleophysic Dwarfism

Gphysd

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

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

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

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

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

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