| 疾病名称 |
别名 |
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| Wrinkly Skin Syndrome |
|
WSS
|
Wrinkled Skin Syndrome
|
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| Cutis Laxa, Autosomal Recessive, Type Iia |
|
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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| Atp6v0a2-Related Cutis Laxa |
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Autosomal Recessive Cutis Laxa Type 2a
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Arcl2a
|
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Atp6v0a2-Cdg
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Cutis Laxa, Autosomal Recessive, Type Iia
|
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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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| Congenital Disorder Of Glycosylation, Type Il |
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Cdg Il
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CDG1L
|
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Cdgil
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Congenital Disorder Of Glycosylation Il
|
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Congenital Disorder Of Glycosylation 1l
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Cdg-Il
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Congenital Disorder Of Glycosylation Type Il
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Glycosylation, Congenital Disorder Of, Type Il
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Congenital Disorder Of Glycosylation Type 1l
|
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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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| 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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| Immunodeficiency 47 |
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Congenital Disorder Of Glycosylation Type Ii
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CDG2E
|
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Congenital Disorder Of Glycosylation Type Iie
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IMD47
|
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Cdg2s
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Cdg Iis
|
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Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
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Congenital Disorder Of Glycosylation, Type Ii
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CDG1I
|
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Congenital Disorder Of Glycosylation, Type Iie
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Cdg Iie
|
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Congenital Disorder Of Glycosylation Type 2e
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Congenital Disorder Of Glycosylation, Type Iis
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Cdg Ii
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Cdgii
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Cdgiie
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Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
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Cdg Syndrome Type Iie
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Congenital Disorder Of Glycosylation Ii
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Congenital Disorder Of Glycosylation 1i
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Cdg-Iie
|
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Alg2-Cdg
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Cdg-Ii
|
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Glycosylation, Congenital Disorder Of, Type Ii
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Cdgiide
|
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Congenital Disorder Of Glycosylation Type Iis
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Cog7-Cdg
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Cdg Syndrome Type Ii
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Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
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Congenital Disorder Of Glycosylation Type 1i
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Mannosyltransferase 2 Deficiency
|
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Congenital Disorder Of Glycosylation 2e
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Congenital Disorder Of Glycosylation 2s
|
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Congenital Disorders Of Glycosylation Type Ii
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Glycosylation, Congenital Disorder Of, Type Iie
|
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Immunodeficiency, Type 47
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Congenital Disorder Of Glycosylation Type 2a
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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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| 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 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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| 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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| Congenital Disorder Of Glycosylation, Type Iio |
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CDG2O
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Ccdc115-Cdg
|
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Cdg Iio
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Congenital Disorder Of Glycosylation Type Iio
|
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Cdgiio
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Carbohydrate Deficient Glycoprotein Syndrome Type Iio
|
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Cdg Syndrome Type Iio
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Congenital Disorder Of Glycosylation Type 2o
|
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Cdg-Iio
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Cdgiido
|
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Congenital Disorder Of Glycosylation 2o
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Glycosylation, Congenital Disorder Of, Type Iio
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| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
ARCL3A
|
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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| 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
|
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
|
Ehlers-Danlos Syndrome Occipital Horn Type
|
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| Congenital Disorder Of Glycosylation, Type Iip |
|
CDG2P
|
Tmem199-Cdg
|
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Cdg Iip
|
Congenital Disorder Of Glycosylation Type Iip
|
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Cdgiip
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iip
|
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Cdg Syndrome Type Iip
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Congenital Disorder Of Glycosylation Type 2p
|
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Cdg-Iip
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Cdgiidp
|
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Congenital Disorder Of Glycosylation 2p
|
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| Cutis Laxa, Autosomal Recessive, Type Ib |
|
ARCL1B
|
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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| Osteopetrosis, Autosomal Recessive 6 |
|
OPTB6
|
Autosomal Recessive Osteopetrosis 6
|
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Autosomal Recessive Osteopetrosis Intermediate Form
|
Osteopetrosis, Autosomal Recessive, Intermediate Form
|
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Osteopetrosis Autosomal Recessive 6
|
Autosomal Recessive Osteopetrosis Type 6
|
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Osteopetrosis Autosomal Recessive Intermediate Form
|
Intermediate Osteopetrosis
|
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Autosomal Recessive Intermediate Osteopetrosis
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Osteopetrosis, Autosomal Recessive, Type 6
|
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| Osteopetrosis |
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Marble Bone Disease
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Albers-Schonberg Disease
|
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Osteopetroses
|
Marble Bones
|
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Osteopetrosis And Related Disorders
|
Congenital Osteopetrosis
|
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Marble Bone
|
Albers-Schoenberg Disease
|
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Albers-Schonberg Osteopetrosis
|
Osteosclerosis Fragilis
|
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Ivory Bones
|
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| Autosomal Recessive Cutis Laxa Type I |
|
Autosomal Recessive Cutis Laxa Type 1
|
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
|
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
|
|
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| Osteopetrosis, Autosomal Recessive 4 |
|
Autosomal Recessive Osteopetrosis 4
|
OPTB4
|
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Infantile Malignant Osteopetrosis 2
|
Osteopetrosis, Infantile Malignant 2
|
|
Osteopetrosis, Autosomal Recessive, Type 4
|
|
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| Cutis Laxa, Autosomal Recessive, Type Ia |
|
ARCL1A
|
Cutis Laxa, Autosomal Recessive
|
|
Autosomal Recessive Cutis Laxa Type Ia
|
Cutis Laxa, Autosomal Recessive, Type 1a
|
|
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
|
Cutis Laxa, Autosomal Recessive, Type I
|
|
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| Congenital Disorder Of Glycosylation, Type Iik |
|
CDG2K
|
Congenital Disorder Of Glycosylation Type Iik
|
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Cdg Iik
|
Cdgiik
|
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Carbohydrate Deficient Glycoprotein Syndrome Type Iik
|
Cdg Syndrome Type Iik
|
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Congenital Disorder Of Glycosylation Type 2k
|
Tmem165-Cdg
|
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Cdg-Iik
|
Cdgiidk
|
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Congenital Disorder Of Glycosylation 2k
|
Glycosylation, Congenital Disorder Of, Type Iik
|
|
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| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
|
ARCL1C
|
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Urban-Rifkin-Davis Syndrome
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
|
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URDS
|
Autosomal Recessive Cutis Laxa Type Ic
|
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Autosomal Recessive Cutis Laxa Type 1c
|
Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
|
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| Cutis Laxa, Autosomal Dominant 1 |
|
Cutis Laxa, Autosomal Dominant
|
Autosomal Dominant Cutis Laxa
|
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ADCL1
|
Adcl
|
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Autosomal Dominant Cutis Laxa 1
|
Cutis Laxa, Autosomal Dominant, 1
|
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Cutis Laxa, Autosomal Dominant, Type 1
|
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| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
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Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
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Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
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Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
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Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
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Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
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Glycosylation, Congenital Disorder Of, Type In
|
|
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| Inguinal Hernia |
|
Hernia Inguinal
|
Hernia, Inguinal
|
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Inguinal Hernias
|
Bubonocele
|
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Indirect Inguinal Hernia
|
Direct Inguinal Hernia
|
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Oblique Inguinal Hernia
|
Scrotal Hernia
|
|
Ih - [Inguinal Hernia]
|
|
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| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
