| Diseases |
Alias |
|
| 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
|
|
|
| Macular Degeneration, Early-Onset |
|
|
| 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
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| 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
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| Csf1r-Related Brain Malformation And Osteopetrosis |
|
Osteoporosis And Infantile Neuroaxonal Dystrophy
|
|
|
| Scoliosis |
|
|
| 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
|
|
|
| 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]
|
|
|
| Arthrogryposis, Distal, Type 5 |
|
Oculomelic Amyoplasia
|
Distal Arthrogryposis Type 5
|
|
Distal Arthrogryposis Type Iib
|
DA5
|
|
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Daiib
|
|
Distal Arthrogryposis Type 2b
|
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Distal Arthrogryposis With Ophthalmoplegia
|
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Arthrogryposis, Distal, Type Iib
|
Da2b
|
|
Freeman-Sheldon Syndrome Variant
|
Sheldon-Hall Syndrome
|
|
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Arthrogryposis Ophthalmoplegia Retinopathy
|
|
Arthrogryposis, Distal, 5
|
Arthrogryposis, Distal, Type 2b
|
|
|
| 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
|
|
|
| Arthrogryposis, Distal, Type 7 |
|
Hecht Syndrome
|
Trismus-Pseudocamptodactyly Syndrome
|
|
Distal Arthrogryposis Type 7
|
Dutch-Kentucky Syndrome
|
|
DA7
|
Hecht-Beals Syndrome
|
|
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
|
Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
|
|
Arthrogryposis Distal Type 7
|
Trismus Pseudocamptodactyly Syndrome
|
|
Arthrogryposis, Distal, 7
|
|
|
| Stiff Skin Syndrome |
|
|
| Tricuspid Valve Prolapse |
|
|
| Arthrogryposis, Distal, Type 6 |
|
Distal Arthrogryposis Type 6
|
DA6
|
|
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
|
Arthrogryposis And Sensorineural Deafness
|
|
Familial Hand Abnormality And Sensori-Neural Deafness
|
Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness
|
|
Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome
|
|
|
| Arthrogryposis, Distal, Type 2a |
|
Freeman-Sheldon Syndrome
|
Craniocarpotarsal Dystrophy
|
|
Craniocarpotarsal Dysplasia
|
DA2A
|
|
Whistling Face-Windmill Vane Hand Syndrome
|
Fss
|
|
Distal Arthrogryposis Type 2a
|
Whistling Face Syndrome
|
|
Freeman-Burian Syndrome
|
Arthrogryposis Distal Type 2a
|
|
Distal Arthrogryposis, Type 2a
|
Fbs
|
|
Arthrogryposis, Distal, 2a
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Acromicric Dysplasia |
|
ACMICD
|
Acromicric Skeletal Dysplasia
|
|
Dysplasia, Acromicric
|
|
|
| Brachydactyly, Type A4 |
|
Brachymesophalangy Ii And V
|
Temtamy Type Brachydactyly
|
|
Brachydactyly Type A4
|
BDA4
|
|
Brachymesophalangy 2 And 5
|
Brachydactyly Temtamy Type
|
|
Brachydactyly, Temtamy Type
|
|
|
| Arthrogryposis, Distal, Type 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| 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
|
|
|
| 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
|
|
|
| Tibialis Tendinitis |
|
|
| Arthrogryposis, Distal, Type 4 |
|
Distal Arthrogryposis Type 4
|
DA4
|
|
Daiid
|
Arthrogryposis-Severe Scoliosis Syndrome
|
|
Distal Arthrogryposis Type Iid
|
Arthrogryposis With Severe Scoliosis
|
|
Arthrogryposis, Distal, Type Iid
|
|
|
| Achard Syndrome |
|
Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
|
|
|
| Geleophysic Dysplasia |
|
Geleophysic Dwarfism
|
Gphysd
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| 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
|
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| 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
|
|
|
| Arthrogryposis, Distal, Type 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| 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
|
|
|
| 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
|
|
|
| Fraser Syndrome 1 |
|
Fraser Syndrome
|
Cryptophthalmos With Other Malformations
|
|
Cryptophthalmos Syndrome
|
FRASRS1
|
|
Cryptophthalmos-Syndactyly Syndrome
|
Fraser-Francois Syndrome
|
|
Cyclopism
|
Meyer-Schwickerath'S Syndrome
|
|
Ulrich-Feichtiger Syndrome
|
Cryptophthalmos Syndactyly Syndrome
|
|
Fraser'S Syndrome
|
Meyer-Schwickerath Syndrome
|
|
Ullrich-Feichtiger Syndrome
|
|
|
| Lens Subluxation |
|
|
| Aortic Dissection |
|
|
| Duodenal Atresia |
|
Duodenal Stenosis
|
Familial Duodenal Atresia
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Bone Structure Disease |
|
|
| Enophthalmos |
|
|
| 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
|
|
|
| Rhabdomyosarcoma |
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| 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
|
|
|
