| 疾病名称 |
别名 |
|
| Epiphyseal Dysplasia, Multiple, 6 |
|
Multiple Epiphyseal Dysplasia 6
|
EDM6
|
|
Dysplasia, Epiphyseal, Multiple, Type 6
|
|
|
| Stickler Syndrome, Type Iv |
|
STL4
|
Stickler Syndrome, Type 4
|
|
Stickler Syndrome 4
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
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Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
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| Autosomal Recessive Stickler Syndrome |
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
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Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
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Central Hearing Loss
|
High Frequency Deafness
|
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High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
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Perceptive Deafness
|
Perceptive Hearing Loss
|
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Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
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Deafness Sensorineural
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Hearing Loss High-Frequency
|
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Hearing Loss, Central
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Hearing Loss, High-Frequency
|
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| Multiple Epiphyseal Dysplasia |
|
Med
|
Polyepiphyseal Dysplasia
|
|
Edm
|
Epiphyseal Dysplasia, Multiple, 1
|
|
Epiphyseal Dysplasia, Multiple, 2
|
Epiphyseal Dysplasia, Multiple, 3
|
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Epiphyseal Dysplasia, Multiple, 4
|
Epiphyseal Dysplasia, Multiple, 5
|
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Epiphyseal Dysplasia, Multiple
|
Edm1
|
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Edm2
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Edm3
|
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Edm4
|
Edm5
|
|
Epiphyseal Dysplasia, Fairbank Type
|
Epiphyseal Dysplasia, Ribbing Type
|
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Multiple Epiphyseal Dysplasia, Autosomal Dominant
|
Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
|
Rmed
|
Dysplasia, Epiphyseal, Multiple
|
|
Osteochondrodysplasias
|
|
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| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Pseudoachondroplasia |
|
PSACH
|
Pseudoachondroplastic Dysplasia
|
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Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
|
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
|
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Pseudoachondroplastic Spondyloepiphyseal Dysplasia
|
Spondyloepiphyseal Dysplasia Pseudoachondroplastic
|
|
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| Osteochondritis Dissecans |
|
Osteochondritis
|
Ocd
|
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Konig Disease
|
|
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| Osteoarthritis |
|
Osteoarthrosis
|
Degenerative Joint Disease
|
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Hypertrophic Arthritis
|
Arthropathy
|
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Degenerative Polyarthritis
|
Degenerative Arthritis
|
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Osteoarthrosis And Allied Disorder
|
Arthritis, Degenerative
|
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Oa
|
Osteoarthritis Deformans
|
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Osteoarthrosis Deformans
|
Kashin-Beck Disease
|
|
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| Spinal Stenosis |
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Lumbar Spinal Stenosis
|
Cervical Spinal Stenosis
|
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Spinal Stenosis Of Lumbar Region
|
Spinal Stenosis In Cervical Region
|
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Spinal Canal Stenosis
|
|
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| Vitreous Syneresis |
|
|
| Marshall Syndrome |
|
MRSHS
|
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type
|
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Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis
|
Pfapa Syndrome
|
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Pfapa
|
Marshall Syndrome With Periodic Fever
|
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Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
|
|
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| Epiphyseal Dysplasia, Multiple, 2 |
|
EDM2
|
Multiple Epiphyseal Dysplasia 2
|
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Dysplasia, Epiphyseal, Multiple, Type 2
|
|
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| Epiphyseal Dysplasia, Multiple, 4 |
|
EDM4
|
Multiple Epiphyseal Dysplasia 4
|
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Multiple Epiphyseal Dysplasia With Clubfoot
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Multiple Epiphyseal Dysplasia Type 4
|
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Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
Multiple Epiphyseal Dysplasia With Bilayered Patellae
|
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Med4
|
Polyepiphyseal Dysplasia Type 4
|
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Rmed
|
Autosomal Recessive Multiple Epiphyseal Dysplasia
|
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Multiple Epiphyseal Dysplasia With Bilateral Patellae
|
Epiphyseal Dysplasia Multiple 4
|
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Multiple Epiphyseal Dysplasia With Double-Layered Patella
|
Dysplasia, Epiphyseal, Multiple, Type 4
|
|
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| Epiphyseal Dysplasia, Multiple, 5 |
|
EDM5
|
Multiple Epiphyseal Dysplasia 5
|
|
Bhmed
|
Multiple Epiphyseal Dysplasia Type 5
|
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Multiple Epiphyseal Dysplasia, Matn3-Related
|
Microepiphyseal Dysplasia, Bilateral Hereditary
|
|
Bilateral Hereditary Microepiphyseal Dysplasia
|
Multiple Epiphyseal Dysplasia Matn3-Related
|
|
Epiphyseal Dysplasia Multiple 5
|
Multiple Epiphyseal Dysplasia, Matn3 Related
|
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Bilateral Hereditary Micro-Epiphyseal Dysplasia
|
Med5
|
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Polyepiphyseal Dysplasia Type 5
|
Dysplasia, Epiphyseal, Multiple, Type 5
|
|
|
| Kniest Dysplasia |
|
Kniest Syndrome
|
Metatropic Dwarfism, Type Ii
|
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Kniest Chondrodystrophy
|
Metatropic Dysplasia Type Ii
|
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Swiss Cheese Cartilage Dysplasia
|
KD
|
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Ks
|
Metatropic Dwarfism Type Ii
|
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Dysplasia, Kniest
|
|
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| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
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Strudwick Syndrome
|
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Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
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Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
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Smd
|
Smed Strudwick Type
|
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SEMDSTWK
|
Smed, Type I
|
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Semdc
|
Smed Type 1
|
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Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
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Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
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Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
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| Achondrogenesis, Type Ib |
|
ACG1B
|
Achondrogenesis Type Ib
|
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Achondrogenesis Type 1b
|
Achondrogenesis Ib
|
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Achondrogenesis Fraccaro Type
|
Achondrogenesis, Fraccaro Type
|
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Achondrogenesis, Parenti-Fraccaro Type
|
Achondrogenesis 1b
|
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Acg-Ib
|
Fraccaro Achondrogenesis
|
|
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| Retinal Detachment |
|
Retinal Detachments
|
Rhegmatogenous Retinal Detachment
|
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Ruptured Retina With Detachment
|
Retinal Hole With Detachment
|
|
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| Fibrochondrogenesis |
|
Fbcg1
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Fbcg2
|
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Fibrochondrogenesis-1
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Fibrochondrogenesis-2
|
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Fibrochondrogenesis 1
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Fibrochondrogenesis 2
|
|
|
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Weissenbacher-Zweymuller Syndrome
|
Wzs
|
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Pierre Robin Syndrome With Fetal Chondrodysplasia
|
OSMEDA
|
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Weissenbacher-Zweymüller Syndrome
|
Heterozygous Osmed
|
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Stickler Syndrome, Type 3
|
Osmed, Heterozygous
|
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Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly
|
Stickler Syndrome, Type Iii, Formerly
|
|
Stl3, Formerly
|
Piere-Robin Syndrome
|
|
Pierre Robin Malformation
|
Heterozygous Otospondylomegaepiphyseal Dysplasia
|
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Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
|
Ad Osmed
|
|
Stickler Syndrome Type 3
|
Stickler Syndrome, Non-Ocular Type
|
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Stickler-Like Syndrome
|
Stickler Syndrome 3
|
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Stickler Syndrome Non-Ocular Type
|
Stickler Syndrome Type Iii
|
|
Stl3
|
Weissenbacher-Zweymueller Syndrome
|
|
Stickler Syndrome, Type Iii
|
Pierre Robin Syndrome
|
|
Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
|
|
|
| Epiphyseal Dysplasia, Multiple, 1 |
|
EDM1
|
Multiple Epiphyseal Dysplasia 1
|
|
Multiple Epiphyseal Dysplasia Type 1
|
Med1
|
|
Multiple Epiphyseal Dysplasia Comp-Related
|
Polyepiphyseal Dysplasia Type 1
|
|
Multiple Epiphyseal Dysplasia, Comp-Related
|
Epiphyseal Dysplasia Multiple 1
|
|
Epiphyseal Dysplasia, Multiple 1
|
Dysplasia, Epiphyseal, Multiple, Type 1
|
|
|
| Macroglossia |
|
Congenital Macroglossia
|
Enlarged Tongue
|
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Giant Tongue
|
Acquired Macroglossia Nos
|
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Congenital Hypertrophy Of Tongue
|
|
|
| Waardenburg Syndrome, Type 4b |
|
Waardenburg Syndrome Type 4b
|
WS4B
|
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Waardenburg Syndrome Type Ivb
|
Waardenburg Syndrome With Hirschsprung Disease Type 4b
|
|
Waardenburg Syndrome, Type 4b, With Hirschsprung Disease
|
Waardenburg Syndrome, Type Ivb
|
|
Waardenburg Syndrome 4b
|
Hirschsprung Disease With Pigmentary Anomaly
|
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Shah-Waardenburg Syndrome
|
Waardenburg-Shah Syndrome
|
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Waardenburg Syndrome, Type 4a
|
|
|
| Spondyloepiphyseal Dysplasia Congenita |
|
SEDC
|
Sed Congenita
|
|
Spondyloepiphyseal Dysplasia, Congenital Type
|
Late Spondyloepiphyseal Dysplasia
|
|
Sed, Congenital Type
|
Congenital Spondyloepiphyseal Dysplasia
|
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Spranger-Wiedemann Disease
|
Spondyloepiphyseal Dysplasia Congenital Type
|
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Dysplasia, Spondyloepiphyseal, Congenita
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
|
|
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Osmed
|
Otospondylomegaepiphyseal Dysplasia
|
|
Chondrodystrophy With Sensorineural Deafness
|
Nance-Insley Syndrome
|
|
Nance-Sweeney Chondrodysplasia
|
OSMEDB
|
|
Insley-Astley Syndrome
|
Osmed Syndrome
|
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Mega-Epiphyseal Dwarfism
|
Weissenbacher-Zweymuller Syndrome, Formerly
|
|
Wzs, Formerly
|
Nance Sweeney Chondrodysplasia
|
|
Oto-Spondylo-Mega-Epiphyseal Dysplasia
|
Oto-Spondylo-Megaepiphyseal Dysplasia
|
|
Megaepiphyseal Dwarfism
|
|
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| Hypochondrogenesis |
|
Achondrogenesis Type Ii/Hypochondrogenesis
|
|
|
| Fibrochondrogenesis 1 |
|
FBCG1
|
Fibrochondrogenesis, Type 1
|
|
|
| Achondrogenesis |
|
|
| Spondyloperipheral Dysplasia |
|
Spondyloperipheral Dysplasia With Short Ulna
|
Spondyloperipheral Dysplasia-Short Ulna Syndrome
|
|
SPD
|
Dysplasia, Spondyloperipheral
|
|
Spondyloperipheral Dysplasia Short Ulna
|
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| Osteochondrosis |
|
Osteochondritis
|
Apophysitis
|
|
Epiphysitis
|
Osteochondritis Juvenilis
|
|
Epiphyseal Necrosis
|
Juvenile Osteochondrosis Of Tibial Tubercle
|
|
|
| Atelosteogenesis |
|
|
| 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
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Diastrophic Dysplasia |
|
Diastrophic Dwarfism
|
DTD
|
|
Dd
|
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
|
|
Dysplasia, Diastrophic
|
Diastrophic Dysplasia Variant
|
|
|
| Achondrogenesis, Type Ii |
|
Achondrogenesis Type Ii
|
ACG2
|
|
Achondrogenesis, Langer-Saldino Type
|
Achondrogenesis Type 2
|
|
Chondrogenesis Imperfecta
|
Achondrogenesis, Type Ib, Formerly
|
|
Achondrogenesis, Type Ii Or Hypochondrogenesis
|
Achondrogenesis 2
|
|
Acg-Ii
|
Achondrogenesis-Hypochondrogenesis Type Ii
|
|
Achondrogenesis Langer-Saldino Type
|
Achondrogenesis-Hypochondrogenesis, Type Ii
|
|
Hypochondrogenesis
|
|
|
| Donnai-Barrow Syndrome |
|
Faciooculoacousticorenal Syndrome
|
Dbs/Foar Syndrome
|
|
Foar Syndrome
|
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
|
|
Facio-Oculo-Acoustico-Renal Syndrome
|
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
|
Holmes-Schepens Syndrome
|
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
|
DBS
|
|
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
|
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
|
|
Donnai Barrow Syndrome
|
|
|
| Retinal Perforation |
|
Retinal Break
|
Retinal Perforations
|
|
Retinal Dialysis
|
Retinal Tear
|
|
Retinal Break Nos
|
Ruptured Retina
|
|
|
| Campomelic Dysplasia |
|
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
|
CMD1
|
Cmpd1
|
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Bone Development Disease |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Refractive Error |
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
