| Diseases |
Alias |
|
| Congenital Heart Defects, Multiple Types, 4 |
|
CHTD4
|
Complete Atrioventricular Septal Defect-Tetralogy Of Fallot
|
|
Cavc-Tetralogy Of Fallot
|
Complete Avsd-Tetralogy Of Fallot
|
|
Complete Atrioventricular Canal Defect-Tetralogy Of Fallot
|
Complete Atrioventricular Septal Defect With Ventricular Hypoplasia
|
|
Cavc With Ventricular Hypoplasia
|
Complete Avsd With Ventricular Hypoplasia
|
|
Complete Atrioventricular Canal Defect With Ventricular Hypoplasia
|
Complete Atrioventricular Septal Defect With Ventricular Imbalance
|
|
Unbalanced Complete Atrioventricular Canal
|
Heart Defects, Congenital, Multiple Types, Type 4
|
|
|
| 46,Xx Sex Reversal 5 |
|
|
| Right Atrial Isomerism |
|
Ivemark Syndrome
|
Asplenia With Cardiovascular Anomalies
|
|
RAI
|
Asplenia Syndrome
|
|
Asplenia
|
Right Isomerism
|
|
Splenic Agenesis Syndrome
|
Bilateral Right-Sidedness Sequence
|
|
Right Sided Atrial Isomerism
|
Isomerism Of Right Atrial Appendage
|
|
Heterotaxy, Visceroatrial, Autosomal Recessive
|
Polyasplenia
|
|
Vah, Autosomal Recessive
|
Atrial Isomerism, Right
|
|
Congenital Absence Of Spleen
|
Bilateral Right-Sidedness
|
|
|
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
BBSOAS
|
Optic Atrophy-Intellectual Disability Syndrome
|
|
|
| 46,Xx Sex Reversal |
|
46,Xx Testicular Disorder Of Sex Development
|
46,Xx Testicular Dsd
|
|
De La Chapelle Syndrome
|
Srxx
|
|
Xx, Male Syndrome
|
46, Xx Testicular Disorders Of Sex Development
|
|
|
| Chromosome 20q11-Q12 Deletion Syndrome |
|
Intellectual Developmental Disorder, Autosomal Dominant 11
|
Autosomal Dominant Non-Syndromic Intellectual Disability 11
|
|
MRD11
|
Intellectual Developmental Disorder, Autosomal Dominant 11, Included
|
|
Mrd11, Included
|
Mental Retardation, Autosomal Dominant 11, Included
|
|
Autosomal Dominant Intellectual Developmental Disorder 11
|
Autosomal Dominant Mental Retardation 11
|
|
Mental Retardation, Autosomal Dominant, Type 11
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Ventricular Septal Defect |
|
Ventricular Septal Defects
|
Interventricular Septal Defect
|
|
Heart Septal Defects, Ventricular
|
Ventricular Septal Abnormality
|
|
Interventricular Septum Defect
|
Ventricular Septum Defect
|
|
Vsd - [Ventricular Septum Defect]
|
Congenital Ventricular Septal Defect
|
|
Single Ventricular Septal Defect
|
|
|
| Endometriosis |
|
Endometriosis, Site Unspecified
|
Endometrial Ectopia
|
|
|
| Fallopian Tube Clear Cell Adenocarcinoma |
|
Clear Cell Carcinoma Of The Fallopian Tube
|
|
|
| Pulmonic Stenosis |
|
Valvular Pulmonic Stenosis
|
Congenital Pulmonary Valvar Stenosis
|
|
Congenital Stenosis Of Pulmonary Valve
|
Pulmonary Valve Stenosis
|
|
Pulmonary Stenosis
|
Congenital Pulmonary Valve Stricture
|
|
Congenital Pulmonary Valve Stenosis
|
|
|
| Lymphangioleiomyomatosis |
|
Lymphangiomyomatosis
|
LAM
|
|
Lung Lymphangioleiomyomatosis
|
Pulmonary Lymphangioleiomyomatosis
|
|
Lymphangioleiomyomatosis, Somatic
|
Lymphangio-Myomatosis
|
|
|
| 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]
|
|
|
| Blepharophimosis |
|
|
| Mucocele Of Appendix |
|
Appendicele Mucocele
|
Appendicular Mucocele
|
|
Appendiceal Mucocele
|
|
|
| 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
|
|
|
| Diaphragmatic Eventration |
|
|
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
HLTS
|
Hypotrichosis Lymphedema Telangiectasia Syndrome
|
|
Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome
|
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
|
|
|
| Cerebral Cavernous Malformations |
|
Cerebral Cavernous Malformation
|
Cavernous Malformations Of Cns And Retina
|
|
Cerebral Cavernous Malformation 1
|
Cavernous Angiomatous Malformations
|
|
Cerebral Capillary Malformations
|
CCM
|
|
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
|
Familial Cavernous Angioma
|
|
Cavernous Angioma
|
Familial Cerebral Cavernous Malformation
|
|
Cerebral Cavernous Malformations 1
|
Cavernous Angioma, Familial
|
|
Cam
|
Cerebral Cavernous Malformations-1
|
|
Cavernoma
|
Central Nervous System Cavernous Hemangioma
|
|
Cerebral Cavernous Hemangioma
|
Familial Cavernous Hemangioma
|
|
Familial Cavernous Malformation
|
Familial Cerebral Cavernous Angioma
|
|
Intracerebral Cavernous Hemangioma
|
CCM1
|
|
Cavernous Hemangioma Of The Brain
|
Cerebral Cavernoma
|
|
Cerebral Cavernous Malformations, Type 1
|
Hemangioma, Cavernous, Central Nervous System
|
|
Hemangioma, Cavernous
|
Angioma, Cavernous
|
|
|
| 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
|
|
|
| Hereditary Lymphedema I |
|
Lymphedema
|
Hereditary Lymphedema Type I
|
|
Congenital Primary Lymphedema
|
Lmph1
|
|
Milroy Disease
|
Nonne-Milroy Lymphedema
|
|
Pcl
|
Lymphedema Hereditary Type 1
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
|
Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
|
Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
|
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
|
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
|
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
| 46,Xy Sex Reversal |
|
Swyer Syndrome
|
Pure Gonadal Dysgenesis 46,Xy
|
|
Gonadal Dysgenesis, Xy Female Type
|
Gonadal Dysgenesis, 46,Xy
|
|
46,Xy Cgd
|
46,Xy Complete Gonadal Dysgenesis
|
|
46,Xy Pure Gonadal Dysgenesis
|
46 Xy Gonadal Dysgenesis
|
|
46, Xy Cgd
|
46, Xy Complete Gonadal Dysgenesis
|
|
46, Xy Pure Gonadal Dysgenesis
|
Xy Pure Gonadal Dysgenesis
|
|
Female With 46,Xy Karyotype
|
Xy Females
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
