| 疾病名称 |
别名 |
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| Cutis Laxa, Autosomal Recessive, Type Ic |
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Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
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ARCL1C
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Urban-Rifkin-Davis Syndrome
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Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
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URDS
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Autosomal Recessive Cutis Laxa Type Ic
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Autosomal Recessive Cutis Laxa Type 1c
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Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
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| Cutis Laxa |
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Generalized Elastolysis
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Loose Skin
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Dermatolysis
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Dermatomegaly
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Cutis Laxa Syndrome
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| Muscular Dystrophy, Duchenne Type |
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Duchenne Muscular Dystrophy
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DMD
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Muscular Dystrophy, Duchenne
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Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
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Severe Dystrophinopathy, Duchenne Type
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Muscular Dystrophy Duchenne
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Dystrophy, Muscular, Duchenne Type
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Benign Duchenne Muscular Dystrophy
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Duchenne Motor Neuron Disease
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Duchenne Type Dystrophy
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Duchenne-Griesinger Disease
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| Autosomal Recessive Cutis Laxa Type I |
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Autosomal Recessive Cutis Laxa Type 1
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Cutis Laxa, Type 1
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Cutis Laxa, Autosomal Recessive, Type I
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Cutis Laxa, Autosomal Recessive Type 1
|
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Cutis Laxa, Autosomal Recessive
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Arcl1
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Autosomal Recessive Cutis Laxa With Severe Systemic Involvement
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Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
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| Cutis Laxa, Autosomal Recessive, Type Ia |
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ARCL1A
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Cutis Laxa, Autosomal Recessive
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Autosomal Recessive Cutis Laxa Type Ia
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Cutis Laxa, Autosomal Recessive, Type 1a
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Arcl1
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Cutis Laxa, Autosomal Recessive, 1a
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Cl Type I
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Cutis Laxa Autosomal Recessive Type I
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Cutis Laxa Autosomal Recessive Type Ia
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Cutis Laxa, Autosomal Recessive, Type I
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| Scoliosis |
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| Cutis Laxa, Autosomal Recessive, Type Ib |
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ARCL1B
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Cutis Laxa, Autosomal Recessive, Type 1b
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Autosomal Recessive Cutis Laxa Type Ib
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Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
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Cutis Laxa, Autosomal Recessive, 1b
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Cutis Laxa Autosomal Recessive Type Ib
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| Muscular Dystrophy |
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Muscular Dystrophies
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Congenital Md
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Congenital Muscular Dystrophy
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Cmd
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Mdc
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Dystrophy, Muscular
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Gower'S Muscular Dystrophy
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Progressive Musclular Dystrophy
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Pseudohypertrophic Atrophy
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Pseudohypertrophic Muscle Paralysis
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Pseudohypertrophic Muscular Atrophy
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Pseudohypertrophic Muscular Dystrophy
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Pseudohypertrophic Paralysis
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Pseudomuscular Hypertrophy
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| Cutis Laxa, Autosomal Recessive, Type Iiib |
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ARCL3B
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De Barsy Syndrome B
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Pycr1-Related De Barsy Syndrome
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Autosomal Recessive Cutis Laxa Type Iiib
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Pycr1 Deficiency
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Pyrroline-5-Carboxylate Reductase 1 Deficiency
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Cutis Laxa, Autosomal Recessive, 3b
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Cutis Laxa Autosomal Recessive Type Iiib
|
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Cutis Laxa, Autosomal Recessive, Type 3b
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| Cutis Laxa, Autosomal Recessive, Type Iiia |
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ARCL3A
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De Barsy Syndrome A
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Aldh18a1-Related De Barsy Syndrome
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Progeroid Syndrome Of De Barsy
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Autosomal Recessive Cutis Laxa Type Iiia
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P5cs Deficiency
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De Barsy Syndrome
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Cutis Laxa, Corneal Clouding, And Mental Retardation
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Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency
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Neurocutaneous Syndrome, Bicknell Type
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Cutis Laxa Corneal Clouding Mental Retardation
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Progeroid Syndrome De Barsy Type
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Cutis Laxa, Autosomal Recessive, 3a
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Cutis Laxa Autosomal Recessive Type Iiia
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Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin
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Neurocutaneous Syndrome Bicknell Type
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Corneal Clouding Cutis Laxa Mental Retardation
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| Autosomal Recessive Cutis Laxa Type Iii |
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De Barsy Syndrome
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Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome
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Progeroid Syndrome, De Barsy Type
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Corneal Clouding, Cutis Laxa And Intellectual Disability
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Cutis Laxa Growth Deficiency Syndrome
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Progeroid Syndrome Of De Barsy
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| Cutis Laxa, Autosomal Recessive, Type Iib |
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ARCL2B
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Cutis Laxa With Progeroid Features
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Autosomal Recessive Cutis Laxa Type 2b
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Autosomal Recessive Cutis Laxa Type Iib
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Arcl2, Progeroid Type
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Cutis Laxa, Autosomal Recessive Type 2b
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Autosomal Recessive Cutis Laxa Type 2, Progeroid Type
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Cutis Laxa, Autosomal Recessive, 2b
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Cl Type Iib
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Cutis Laxa Autosomal Recessive Type Iib
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Cutis Laxa, Autosomal Recessive, Type 2b
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| Cutis Laxa, Autosomal Recessive, Type Iia |
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ARCL2A
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Cutis Laxa With Joint Laxity And Retarded Development
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Cutis Laxa With Growth And Developmental Delay
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Cutis Laxa, Debre Type
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Cutis Laxa With Bone Dystrophy
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Arcl2
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Cutis Laxa With Congenital Disorder Of Glycosylation
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Autosomal Recessive Cutis Laxa Type Iia
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Cutis Laxa, Autosomal Recessive Type 2a
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Cutis Laxa, Autosomal Recessive, 2a
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Cl Type Iia
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Cutis Laxa Autosomal Recessive Type Iia
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| Bladder Diverticulum |
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Diverticulum Of Bladder
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Diverticulum - Bladder
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Bladder Diverticula
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Vesical Diverticulum
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Bladder Sacculation
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| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
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Arcl2, Classic Type
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Arcl2, Debre Type
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Autosomal Recessive Cutis Laxa Type 2, Classic Type
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Autosomal Recessive Cutis Laxa Type 2, Debre Type
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| Dental Anomalies And Short Stature |
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Brachyolmia-Amelogenesis Imperfecta Syndrome
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Platyspondyly With Amelogenesis Imperfecta
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DASS
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Verloes Bourguignon Syndrome
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Verloes-Bourguignon Syndrome
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Vbs
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Sthag6
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Tooth Agenesis, Selective, 6
|
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Tooth Agenesis, Selective, 6, Formerly
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Sthag6, Formerly
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Selective Tooth Agenesis 5
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Amelogenesis Imperfecta And Platyspondyly
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Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly
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Platyspondyly-Amelogenesis Imperfecta Syndrome
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| Aortic Aneurysm |
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Aortic Rupture
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Thoracoabdominal Aortic Aneurysm, Ruptured
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Ruptured Aortic Aneurysm
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Aortic Aneurysms
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Aortic Aneurysm Without Mention Of Rupture Nos
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Ruptured Abdominal Aortic Aneurysm
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Aortic Aneurysm, Ruptured
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Ruptured Thoracic Aortic Aneurysm
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| Geroderma Osteodysplasticum |
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Gerodermia Osteodysplastica
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Geroderma Osteodysplastica
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GO
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Walt Disney Dwarfism
|
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Type Of Gerodermia Osteodysplastica
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| Arterial Tortuosity Syndrome |
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Arterial Tortuosity
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Ats
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ATORS
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Tortuosity, Arterial, Syndrome
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| Stiff Skin Syndrome |
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| Occipital Horn Syndrome |
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OHS
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Eds Ix
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Cutis Laxa X-Linked
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Cutis Laxa, X-Linked
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Cutis Laxa, X-Linked, Formerly
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Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
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Eds Ix, Formerly
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Eds9, Formerly
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Ehlers-Danlos Syndrome Type 9
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Ehlers-Danlos Syndrome Type Ix
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X-Linked Cutis Laxa
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Ehlers-Danlos Syndrome, Occipital Horn Type
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Eds9
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Ehlers-Danlos Syndrome Occipital Horn Type
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| Tracheomalacia |
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Congenital Tracheomalacia
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Congenital Major Airway Collapse
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Tracheomalacia, Congenital
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Type 1 Tracheomalacia
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| Contractural Arachnodactyly, Congenital |
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Congenital Contractural Arachnodactyly
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Beals Syndrome
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CCA
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Beals-Hecht Syndrome
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Distal Arthrogryposis Type 9
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Arthrogryposis, Distal, Type 9
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Da9
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Arachnodactyly, Contractural Beals Type
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Contractures, Multiple With Arachnodactyly
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Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis
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Arthrogyroposis, Distal, Type 9
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Distal Arthrogyropsis Type 9
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Cca Syndrome
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Arachnodactyly
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| Inguinal Hernia |
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Hernia Inguinal
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Hernia, Inguinal
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Inguinal Hernias
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Bubonocele
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Indirect Inguinal Hernia
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Direct Inguinal Hernia
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Oblique Inguinal Hernia
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Scrotal Hernia
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Ih - [Inguinal Hernia]
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| Supravalvular Aortic Stenosis |
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SVAS
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Supravalvar Aortic Stenosis
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Supravalvar Aortic Stenosis, Eisenberg Type
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Aortic Supravalvular Stenosis
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Aortic Stenosis, Supravalvular
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Supra-Valvular Aortic Stenosis
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Stenosis, Aortic Supravalvular
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Stenosis, Supravalvular Aortic
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Supravalvular Stenosis, Aortic
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Aortic Stenosis Supravalvular
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| Cutis Laxa, Autosomal Dominant 1 |
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Cutis Laxa, Autosomal Dominant
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Autosomal Dominant Cutis Laxa
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ADCL1
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Adcl
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Autosomal Dominant Cutis Laxa 1
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Cutis Laxa, Autosomal Dominant, 1
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Cutis Laxa, Autosomal Dominant, Type 1
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| Geleophysic Dysplasia |
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Geleophysic Dwarfism
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Gphysd
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| Loeys-Dietz Syndrome |
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Loeys-Dietz Aortic Aneurysm Syndrome
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Lds
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Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
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Furlong Syndrome
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| Diaphragmatic Hernia, Congenital |
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Congenital Diaphragmatic Hernia
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Diaphragmatic Hernia
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Cdh
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Congenital Diaphragmatic Defect
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Hernia, Diaphragmatic
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Dih
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Hernia, Congenital Diaphragmatic
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Hcd
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Diaphragmatic Defect, Congenital
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Diaphragm, Unilateral Agenesis Of
|
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Hemidiaphragm, Agenesis Of
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Diaphragmatic Hernia 1
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Agenesis Of Hemidiaphragm
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Unilateral Agenesis Of Diaphragm
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Hernia Diaphragmatic
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Hernia Diaphragmatic Congenital
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Hernia, Diaphragmatic, Type 1
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Hiatus Hernia
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Oesophageal Hiatus Hernia
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Paraoesophageal Hernia
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Sliding Hiatus Hernia
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Congenital Diaphragm Hernia
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Congenital Diaphragm Defect With Hernia
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Gross Congenital Diaphragm Defect
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| Aortic Aneurysm, Familial Thoracic 1 |
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Thoracic Aortic Aneurysm
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Annuloaortic Ectasia
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Familial Thoracic Aortic Aneurysm And Aortic Dissection
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Familial Aortic Dissection
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Familial Taad
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Familial Thoracic Aortic Aneurysm
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Congenital Aneurysm Of Ascending Aorta
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Familial Aortic Aneurysm
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Familial Thoracic Aortic Aneurysm And Dissection
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Aortic Aneurysm, Thoracic
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AAT1
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Faa1
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Aortic Dissection, Familial
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Aortic Aneurysm, Familial Thoracic
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Aneurysm, Thoracic Aortic
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Faa
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Ftaad
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Taa
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Taad
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Cystic Medial Necrosis Of Aorta
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Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection
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Aortic Aneurysm Thoracic
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Familial Aortic Aneurysms
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Aneurysm, Aortic, Thoracic, Familial, Type 1
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Aneurysm Of Thoracic Aorta
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Intrathoracic Aneurysm
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Thoracic Aorta Aneurysm
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Thoracic Aortic Aneurysm Without Rupture
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Thoracic Aneurysm
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Thorax Arterial Aneurysm
|
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Thoracic Artery Aneurysm
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Thoracic Arterial Aneurysm
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Thorax Aneurysm
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Thorax Aortic Aneurysm
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Dissection Of Thoracic Aorta
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
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| Patent Foramen Ovale |
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Atrial Septal Defect Within Oval Fossa
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Foramen Ovale Patent
|
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Ostium Secundum Atrial Septal Defect
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Atrial Septal Defect, Ostium Secundum Type
|
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Foramen Ovale, Patent
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Defect, Patent Or Persistent, Ostium Secundum
|
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Ostium Secundum Type Atrial Septal Defect
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Persistent Ostium Secundum
|
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Asd Ostium Secundum Type
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Ostium Secundum Asd
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Osasd
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Asd, Ostium Secundum Type
|
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Pfo - [Patent Foramen Ovale]
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Open Foramen Ovale
|
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Open Oval Foramen
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Persistent Foramen Ovale
|
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Secundum Atrial Septal Defect
|
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