| 疾病名称 |
别名 |
|
| Saul-Wilson Syndrome |
|
Microcephalic Osteodysplastic Dysplasia
|
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
|
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SWILS
|
Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
|
|
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| Congenital Disorder Of Glycosylation, Type Iij |
|
CDG2J
|
Congenital Disorder Of Glycosylation Type Iij
|
|
Cdg Iij
|
Cdgiij
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iij
|
Cdg Syndrome Type Iij
|
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Congenital Disorder Of Glycosylation Type 2j
|
Cog4-Cdg
|
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Cdg-Iij
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Cdgiidj
|
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Congenital Disorder Of Glycosylation 2j
|
Glycosylation, Congenital Disorder Of, Type Iij
|
|
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| Congenital Disorder Of Glycosylation, Type Iil |
|
CDG2L
|
Congenital Disorder Of Glycosylation Type Iil
|
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Cdg Iil
|
Cog6-Cgd
|
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Cdgiil
|
Cdg Syndrome Type Iil
|
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Congenital Disorder Of Glycosylation Type 2l
|
Cdg-Iil
|
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Cdgiidl
|
Congenital Disorder Of Glycosylation 2l
|
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Glycosylation, Congenital Disorder Of, Type Iil
|
|
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| Cone-Rod Dystrophy, X-Linked, 2 |
|
CORDX2
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Cod2
|
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X-Linked Cone-Rod Dystrophy 2
|
Cone Dystrophy 2, X-Linked
|
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Cone Dystrophy, Progressive X-Linked, 2
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X-Linked Cone Dystrophy 2
|
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Cone-Rod Dystrophy X-Linked 2
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Cone Dystrophy X-Linked 2
|
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Cone Dystrophy-2, X-Linked
|
|
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| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
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Congenital Disorder Of Glycosylation Type Iie
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IMD47
|
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Cdg2s
|
Cdg Iis
|
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Cdgiis
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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
|
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
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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
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
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Mannosyltransferase 2 Deficiency
|
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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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| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
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Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
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Club Foot
|
|
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| Congenital Disorder Of Glycosylation, Type Iii |
|
CDG2I
|
Congenital Disorder Of Glycosylation Type Iii
|
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Cdgiii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iii
|
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Congenital Disorder Of Glycosylation Type 2i
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Cog5-Cdg
|
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Cdgiidi
|
Congenital Disorder Of Glycosylation 2i
|
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Glycosylation, Congenital Disorder Of, Type Iii
|
Congenital Disorder Of Glycosylation, Type I-Iix
|
|
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| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal Spinal Muscular Atrophy Type 3
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DSMA3
|
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Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3
|
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Dhmn3 And Dhmn4
|
Distal Hereditary Motor Neuropathy Type 3 And Type 4
|
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Neuronopathy, Distal Hereditary Motor, Type Iv
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Hmn4
|
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Dhmn4
|
Neuropathy, Distal Hereditary Motor, Type Iv
|
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Hmn Iv
|
Neuronopathy, Distal Hereditary Motor, Type Iii
|
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Hmn3
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Dhmn3
|
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Hmn Iii
|
|
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| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
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Congenital Disorder Of Glycosylation, Type Is
|
Cdg1s
|
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Congenital Disorder Of Glycosylation, Type Ie
|
CDG1E
|
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Congenital Disorder Of Glycosylation Type 1e
|
DEE36
|
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Eiee36
|
Cdg Is
|
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Cdgis
|
Congenital Disorder Of Glycosylation Ie
|
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Congenital Disorder Of Glycosylation 1e
|
Cdg-Is
|
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Congenital Disorder Of Glycosylation Type Is
|
Developmental And Epileptic Encephalopathy, 36
|
|
Cdg Ie
|
Cdgie
|
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Early Infantile Epileptic Encephalopathy 36
|
Alg13-Cdg
|
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Cdg Syndrome Type Is
|
Congenital Disorder Of Glycosylation Type 1s
|
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Dpm1-Cdg
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Cdg Syndrome Type Ie
|
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Cdg-Ie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ie
|
|
Congenital Disorder Of Glycosylation Type Ie
|
Dol-P-Mannosyltransferase Deficiency
|
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Congenital Disorder Of Glycosylation 1s
|
Glycosylation, Congenital Disorder Of, Type I
|
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Glycosylation, Congenital Disorder Of, Type Ie
|
Congenital Disorder Of Glycosylation Type 1a
|
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Congenital Disorder Of Glycosylation, Type Iu
|
|
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| Congenital Disorder Of Glycosylation, Type Iih |
|
CDG2H
|
Congenital Disorder Of Glycosylation Type Iih
|
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Cdg Iih
|
Cdgiih
|
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Carbohydrate Deficient Glycoprotein Syndrome Type Iih
|
Congenital Disorder Of Glycosylation Type 2h
|
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Cog8-Cdg
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Cdg-Iih
|
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Cdgiidh
|
Cdg Syndrome Type Iih
|
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Congenital Disorder Of Glycosylation 2h
|
Glycosylation, Congenital Disorder Of, Type Iih
|
|
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| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Spondyloepiphyseal Dysplasia
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Chst3-Related Skeletal Dysplasia
|
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Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
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Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
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Hsd
|
Cdmd
|
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Humero-Spinal Dysostosis
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Kozlowski Celermajer Tink Syndrome
|
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Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
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Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
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Sed
|
Chst3 Deficiency
|
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Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
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Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
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Sed, Omani Type
|
Sdcd, Chst3 Type
|
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Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
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Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
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| Brachydactyly |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
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
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Marinesco-Sjogren Syndrome |
|
Marinesco-Sjögren Syndrome
|
MSS
|
|
Marinesco-Garland Syndrome
|
Garland-Moorhouse Syndrome
|
|
Hereditary Oligophrenic Cerebello-Lental Degeneration
|
Oligophrenic Cerebellolenticular Degeneration
|
|
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
|
Marinesco-Sjogren Syndrome-Myopathy
|
|
Marinesco-Sjogren-Garland Syndrome
|
Marinesco-Sjoegren Syndrome
|
|
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| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Sponastrime Dysplasia
|
Spondylar And Nasal Alterations With Striated Metaphyses
|
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SEMDSP
|
Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
|
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Spondylar And Nasal Alterations-Striated Metaphyses Syndrome
|
Spondyloepimetaphyseal Dysplasia Sponastrime Type
|
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Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
|
Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
|
|
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation
|
Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
|
|
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| Orbital Cellulitis |
|
|
| Acute Orbital Inflammation |
|
Acute Inflammation Of Orbit
|
|
|
| Larsen Syndrome |
|
LRS
|
Larsen Syndrome, Dominant Type
|
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
|
Larsens Syndrome
|
|
|
| Geroderma Osteodysplasticum |
|
Gerodermia Osteodysplastica
|
Geroderma Osteodysplastica
|
|
GO
|
Walt Disney Dwarfism
|
|
Type Of Gerodermia Osteodysplastica
|
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
Ighd Ia
|
Primordial Dwarfism
|
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Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
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Pituitary Dwarfism I
|
IGHD1A
|
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Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
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Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
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Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
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Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
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Dwarfism
|
|
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| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
