| 疾病名称 |
别名 |
|
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
|
Xgpt Deficiency
|
|
EDSSPD1
|
Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
|
|
Edssla
|
Proteodermatan Sulfate, Defective Biosynthesis Of
|
|
Pds, Defective Biosynthesis Of
|
Dermatan Sulfate Proteoglycan
|
|
Galactosyltransferase I Deficiency
|
Ehlers-Danlos Syndrome Spondylodysplastic Type 1
|
|
Spondylodysplastic Ehlers-Danlos Syndrome
|
Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly
|
|
Edsp1, Formerly
|
Ehlers-Danlos Syndrome, Progeroid Type
|
|
Galactosyltransferase 1 Deficiency
|
Spondylodysplastic Eds
|
|
Speds
|
Defective Biosynthesis Of Pds
|
|
Defective Biosynthesis Of Proteodermatan Sulfate
|
Edsp1
|
|
Ehlers-Danlos Syndrome, Progeroid Type, 1
|
Proteodermatan Sulfate Defective Biosynthesis Of
|
|
Ehlers-Danlos, Spondylodysplastic Syndrome
|
Ehlers-Danlos Syndrome, Progeroid Form
|
|
|
| B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
B4galt7-Related Spondylodysplastic Eds
|
Eds Progeroid Type 1
|
|
Eds With Short Stature And Limb Anomalies
|
Speds-B4galt7
|
|
|
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Ehlers-Danlos Syndrome Progeroid Type
|
Ehlers-Danlos Syndrome, Progeroid Type, 2
|
|
EDSSPD2
|
Ehlers-Danlos Syndrome Spondylodysplastic Type 2
|
|
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly
|
Edsp2, Formerly
|
|
Defective Biosynthesis Of Proteodermatan Sulfate
|
Xgpt Deficiency
|
|
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
|
B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
|
|
B3galt6-Related Speds
|
B3galt6-Related Spondylodysplastic Eds
|
|
Beta3galt6-Deficient Eds
|
Ehlers-Danlos Syndrome Progeroid Type 2
|
|
Speds-B3galt6
|
Edsp2
|
|
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2
|
Ehlers-Danlos Syndrome, Progeroid Form
|
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Spondyloepiphyseal Dysplasia
|
Chst3-Related Skeletal Dysplasia
|
|
Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
|
Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
|
Hsd
|
Cdmd
|
|
Humero-Spinal Dysostosis
|
Kozlowski Celermajer Tink Syndrome
|
|
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
|
Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
|
Sed
|
Chst3 Deficiency
|
|
Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
|
Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
|
Sed, Omani Type
|
Sdcd, Chst3 Type
|
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
|
Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
|
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
JDSCD
|
Larsen Syndrome, Autosomal Recessive, Formerly
|
|
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects
|
Autosomal Recessive Larsen Syndrome
|
|
Larsen-Like Syndrome
|
Larsen-Like Syndrome B3gat3 Type
|
|
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism Without Congenital Heart Defects
|
Larsen Syndrome, Recessive Type
|
|
|
| Larsen-Like Syndrome B3gat3 Type |
|
Larsen-Like Syndrome, B3gat3 Type
|
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
|
|
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects
|
Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Progeroid Syndrome |
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
SEMDJL1
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
|
|
Semdjl
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures
|
|
Semdjl-Beighton Type
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type
|
|
|
| Desbuquois Dysplasia |
|
Desbuquois Syndrome
|
Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
|
|
Dysplasia, Desbuquois
|
|
|
| Stickler Syndrome, Type I |
|
Stickler Syndrome 1
|
Stickler Syndrome Type 1
|
|
STL1
|
Aom
|
|
Stickler Syndrome, Type 1
|
Stickler Syndrome, Vitreous Type 1
|
|
Stickler Syndrome, Membranous Vitreous Type
|
Arthroophthalmopathy, Hereditary Progressive
|
|
Arthro-Ophthalmopathy Hereditary Progressive
|
Stickler Syndrome Membranous Vitreous Type
|
|
Stickler Syndrome Type I
|
Stickler Syndrome Vitreous Type 1
|
|
|
| Larsen Syndrome |
|
LRS
|
Larsen Syndrome, Dominant Type
|
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
|
Larsens Syndrome
|
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dysplasia, Spondyloepimetaphyseal, With Joint Laxity
|
Semdjl
|
|
Spondyloepimetaphyseal Dysplasia Joint Laxity
|
Semd-Jl
|
|
Semdjl1
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
|
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
|
|
|
| Radioulnar Synostosis |
|
Radio-Ulnar Synostosis Type 1
|
|
|
| Temtamy Preaxial Brachydactyly Syndrome |
|
Preaxial Brachydactyly Syndrome, Temtamy Type
|
TPBS
|
|
Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies
|
Preaxial Brachydactyly Syndrome Temtamy Type
|
|
|
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
DKCB2
|
Autosomal Recessive Dyskeratosis Congenita 2
|
|
Dyskeratosis Congenita, Autosomal Recessive, 2
|
Dyskeratosis Congenita, Autosomal Recessive, Type 2
|
|
|
| Boomerang Dysplasia |
|
BOOMD
|
Boomerang-Like Skeletal Dysplasia
|
|
Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies
|
Piepkorn Dysplasia
|
|
Dysplasia, Boomerang
|
|
|
| Collagen Disease |
|
Collagen Diseases
|
Collagen Disorder
|
|
|
| Caspase 8 Deficiency |
|
Autoimmune Lymphoproliferative Syndrome Type 2b
|
Caspase-8 Deficiency
|
|
Ceds
|
Alps2b
|
|
Autoimmune Lymphoproliferative Syndrome, Type Iib
|
Alps With Recurrent Viral Infections
|
|
Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections
|
Caspase 8 Deficiency Syndrome
|
|
Caspase 8 Lymphadenopathy Syndrome
|
Autoimmune Lymphoproliferative Syndrome Type Iib
|
|
Caspase Eight Deficiency State
|
CASP8D
|
|
|
| Vulto-Van Silfhout-De Vries Syndrome |
|
Vulto-Van Silfout-De Vries Syndrome
|
VSVS
|
|
Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures
|
Iddisbas
|
|
Mrd24
|
Mental Retardation, Autosomal Dominant 24
|
|
Autosomal Dominant Mental Retardation 24
|
Autosomal Dominant Non-Syndromic Intellectual Disability 24
|
|
Mental Retardation, Autosomal Dominant, Type 24
|
|
|
| Hypermobility Syndrome |
|
Benign Joint Hypermobility
|
|
|
| Spondyloepimetaphyseal Dysplasia |
|
Dysplasia, Spondyloepimetaphyseal
|
|
|
| Geroderma Osteodysplasticum |
|
Gerodermia Osteodysplastica
|
Geroderma Osteodysplastica
|
|
GO
|
Walt Disney Dwarfism
|
|
Type Of Gerodermia Osteodysplastica
|
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
