| 疾病名称 |
别名 |
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| Spastic Paraplegia 9a, Autosomal Dominant |
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Hereditary Spastic Paraplegia 9a
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SPG9A
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Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
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Ad-Spg9a
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Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
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Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
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Autosomal Dominant Complex Spastic Paraplegia Type 9a
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Autosomal Dominant Spastic Paraplegia 9a
|
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Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
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Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
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Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
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Autosomal Dominant Spastic Paraplegia Type 9a
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Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
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Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
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Spastic Paraplegia 9, Autosomal Dominant
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| Spastic Paraplegia 9b, Autosomal Recessive |
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SPG9B
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Autosomal Recessive Complex Spastic Paraplegia Type 9b
|
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Hereditary Spastic Paraplegia 9b
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Autosomal Recessive Spastic Paraplegia 9b
|
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Autosomal Recessive Spastic Paraplegia Type 9b
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Ar-Spg9b
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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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| Cutis Laxa, Autosomal Dominant 3 |
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ADCL3
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Autosomal Dominant Cutis Laxa 3
|
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Cutis Laxa, Autosomal Dominant, 3
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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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| Spastic Paraplegia 9 |
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Autosomal Dominant Spastic Paraparesis
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Bilateral Cataracts, Gastroesophageal Reflux, And Spastic Paraparesis With Amyotrophy
|
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Cataracts, Motor Neuronopathy, Short Stature And Skeletal Abnormalities
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Spg9
|
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Spastic Paraplegia 9, Autosomal Dominant
|
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| Autosomal Dominant Spastic Paraplegia Type 9b |
|
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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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| Spastic Paraplegia 5a, Autosomal Recessive |
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SPG5A
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Hereditary Spastic Paraplegia 5a
|
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Autosomal Recessive Spastic Paraplegia 5a
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Autosomal Recessive Spastic Paraplegia Type 5a
|
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Spastic Paraplegia 5a
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Spastic Paraplegia Type 5a
|
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Spastic Paraplegia Type 5a, Recessive
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Autosomal Recessive Spastic Paraplegia
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Spastic Paraplegia-5a
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Paraplegia, Spastic, Autosomal Recessive, Type 5a
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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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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
|
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
|
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Hsp
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Spg
|
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
|
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French Settlement Disease
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Strumpell-Lorrain Syndrome
|
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Fsp
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Spastic Paraplegia, Familial
|
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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| Paraplegia |
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Paraplegia, Lower
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Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
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| Gastroesophageal Reflux |
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Gastroesophageal Reflux Disease
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Gerd
|
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GER
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Gastroesophageal Reflux, Pediatric
|
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Acid Reflux
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Gastresophageal Reflux
|
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Gastro-Esophageal Reflux
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Gerd - Gastro-Esophageal Reflux Disease
|
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| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
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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| Spastic Paraparesis |
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
|
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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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| Spastic Paraplegia 19, Autosomal Dominant |
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SPG19
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Hereditary Spastic Paraplegia 19
|
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Autosomal Dominant Spastic Paraplegia Type 19
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Autosomal Dominant Spastic Paraplegia 19
|
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Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
|
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Nervous System Disorder
|
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| Cutis Laxa, Autosomal Recessive, Type Iid |
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ARCL2D
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Autosomal Recessive Cutis Laxa Type Iid
|
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Autosomal Recessive Cutis Laxa Type 2d
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Cutis Laxa, Autosomal Recessive, 2d
|
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| Hyperprolinemia |
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Proline Oxidase Deficiency
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Hyperprolinemia Type 1
|
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Proline Hydrogenase Deficiency
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Prolinemia
|
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Pyrroline Carboxylate Dehydrogenase Deficiency
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Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
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Proline Dehydrogenase Deficiency
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Hyperprolinemia Type 2
|
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| Spastic Paraplegia 34, X-Linked |
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SPG34
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Hereditary Spastic Paraplegia 34
|
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X-Linked Spastic Paraplegia Type 34
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X-Linked Spastic Paraplegia 34
|
|
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| Spastic Paraplegia 14, Autosomal Recessive |
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SPG14
|
Hereditary Spastic Paraplegia 14
|
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Autosomal Recessive Spastic Paraplegia Type 14
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Autosomal Recessive Spastic Paraplegia 14
|
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Spastic Paraplegia 14
|
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| Mend Syndrome |
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Male Ebp Disorder With Neurological Defects
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MEND
|
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Male Ebp Disorder With Neurologic Defects
|
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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
|
Cutis Laxa Autosomal Recessive Type Iia
|
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| Cataract |
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Cataracts
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Cat - [Cataract]
|
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Cataract Form
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Lens Opacity
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Lens Opacities
|
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| Spastic Paraplegia 36, Autosomal Dominant |
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SPG36
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Hereditary Spastic Paraplegia 36
|
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Autosomal Dominant Spastic Paraplegia Type 36
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Autosomal Dominant Spastic Paraplegia 36
|
|
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| Gamma-Amino Butyric Acid Metabolism Disorder |
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Disorder Of Gamma-Aminobutyric Acid Metabolism
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Disorder Of Gaba Metabolism
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Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
|
|
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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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| 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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| Succinic Semialdehyde Dehydrogenase Deficiency |
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4-Hydroxybutyric Aciduria
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Ssadh Deficiency
|
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Gamma-Hydroxybutyric Aciduria
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Gaba Metabolic Defect
|
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SSADHD
|
Ssadh
|
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Succinate-Semialdehyde Dehydrogenase Deficiency
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Gamma-Hydroxybutyricaciduria
|
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4-Hydroxybutyricaciduria
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Gamma-Hydroxybutyric Acidemia
|
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Succinate Semialdehyde Dehydrogenase Deficiency
|
|
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| Leukodystrophy, Hypomyelinating, 10 |
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Hypomyelinating Leukodystrophy 10
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HLD10
|
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Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
|
Leukodystrophy, Hypomyelinating, Type 10
|
|
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| Hyperprolinemia, Type Ii |
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Hyperprolinemia Type 2
|
HYRPRO2
|
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Hpii
|
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
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Hyperprolinemia Type Ii
|
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
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Type 2 Hyperprolinemia
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Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
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Hyperprolinemia 2
|
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| Cutis Laxa, Autosomal Recessive, Type Ia |
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ARCL1A
|
Cutis Laxa, Autosomal Recessive
|
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Autosomal Recessive Cutis Laxa Type Ia
|
Cutis Laxa, Autosomal Recessive, Type 1a
|
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Arcl1
|
Cutis Laxa, Autosomal Recessive, 1a
|
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Cl Type I
|
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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| 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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| 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
|
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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| Wrinkly Skin Syndrome |
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WSS
|
Wrinkled Skin Syndrome
|
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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
|
Cutis Laxa, Autosomal Recessive Type 1
|
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Cutis Laxa, Autosomal Recessive
|
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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| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
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Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
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Cdg2s
|
Cdg Iis
|
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Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
|
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Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
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Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
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Cdg Ii
|
Cdgii
|
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Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
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Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
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Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
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Alg2-Cdg
|
Cdg-Ii
|
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Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
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Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
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Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2e
|
Congenital Disorder Of Glycosylation 2s
|
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Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
|
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Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
|
|
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| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hhh Syndrome
|
Ornithine Translocase Deficiency
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome
|
HHHS
|
|
Hhh
|
Triple H Syndrome
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
Ornithine Translocase Deficiency Syndrome
|
|
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome
|
Ornt1 Deficiency
|
|
Ornithine Carrier Deficiency
|
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
|
|
|
| Spastic Paraplegia 64, Autosomal Recessive |
|
SPG64
|
Hereditary Spastic Paraplegia 64
|
|
Autosomal Recessive Spastic Paraplegia Type 64
|
Autosomal Recessive Spastic Paraplegia 64
|
|
Paraplegia, Spastic, Type 64, Autosomal Recessive
|
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
SPG8
|
Hereditary Spastic Paraplegia 8
|
|
Autosomal Dominant Spastic Paraplegia Type 8
|
Autosomal Dominant Spastic Paraplegia 8
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 8
|
|
|
| Occipital Horn Syndrome |
|
OHS
|
Eds Ix
|
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Cutis Laxa X-Linked
|
Cutis Laxa, X-Linked
|
|
Cutis Laxa, X-Linked, Formerly
|
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
|
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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
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
|
Oat Deficiency
|
Okt Deficiency
|
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
