| 疾病名称 |
别名 |
|
| Stickler Syndrome, Type Ii |
|
Stickler Syndrome Type 2
|
STL2
|
|
Stickler Syndrome 2
|
Stickler Syndrome, Vitreous Type 2
|
|
Stickler Syndrome, Beaded Vitreous Type
|
Stickler Syndrome, Type 2
|
|
Stickler Syndrome Beaded Vitreous Type
|
Stickler Syndrome Type Ii
|
|
Stickler Syndrome Vitreous Type 2
|
|
|
| Marshall Syndrome |
|
MRSHS
|
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type
|
|
Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis
|
Pfapa Syndrome
|
|
Pfapa
|
Marshall Syndrome With Periodic Fever
|
|
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
|
|
|
| Fibrochondrogenesis 1 |
|
FBCG1
|
Fibrochondrogenesis, Type 1
|
|
|
| Deafness, Autosomal Dominant 37 |
|
DFNA37
|
Deafness, Autosomal Dominant, 37
|
|
|
| Fibrochondrogenesis |
|
Fbcg1
|
Fbcg2
|
|
Fibrochondrogenesis-1
|
Fibrochondrogenesis-2
|
|
Fibrochondrogenesis 1
|
Fibrochondrogenesis 2
|
|
|
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Deafness-Rhizomelic Dysplasia Syndrome
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Intervertebral Disc Disease |
|
Lumbar Disc Disease
|
Intervertebral Disc Disorder
|
|
IDD
|
Lumbar Disc Herniation
|
|
Lumbar Disc Degeneration
|
Intervertebral Disc Disease, Susceptibility To
|
|
Lumbar Disc Herniation, Susceptibility To
|
Lumbar Disc Disease, Susceptibility To
|
|
Intervertebral Disc Degeneration
|
Discogenic Disease
|
|
Discogenic Disorder
|
Disorder Of Intervertebral Disc
|
|
Intervertebral Disk Degeneration
|
Intervertebral Disk Disease
|
|
Ldd
|
Ldh
|
|
Lumbar Disc Degeneration, Susceptibility To
|
Degeneration Of Lumbar Intervertebral Disc
|
|
Intervertebral Disk Displacement
|
|
|
| Autosomal Recessive Stickler Syndrome |
|
|
| Megalocornea |
|
Isolated Congenital Megalocornea
|
Congenital Anterior Megalophthalmia
|
|
Anterior Megalophthalmos
|
Mgc1
|
|
Mgcn
|
Congenital Keratoglobus
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Telecanthus |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Retinal Detachment |
|
Retinal Detachments
|
Rhegmatogenous Retinal Detachment
|
|
Ruptured Retina With Detachment
|
Retinal Hole With Detachment
|
|
|
| Hypertelorism |
|
Eyes Wide Apart
|
Eyes Widely Set
|
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
|
Orbital Separation Excessive
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Spinal Stenosis |
|
Lumbar Spinal Stenosis
|
Cervical Spinal Stenosis
|
|
Spinal Stenosis Of Lumbar Region
|
Spinal Stenosis In Cervical Region
|
|
Spinal Canal Stenosis
|
|
|
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Dpd Deficiency
|
Familial Pyrimidinemia
|
|
Hereditary Thymine-Uraciluria
|
Dihydropyrimidinuria
|
|
Dpyd Deficiency
|
Thymine-Uraciluria, Hereditary
|
|
Pyrimidinemia, Familial
|
5-Fluorouracil Toxicity
|
|
Dihydrouracil Dehydrogenase Deficiency
|
Familial Pyrimidinaemia
|
|
Thymine-Uracilurea
|
Familial Pyrimidemia
|
|
Pyrimidinemia Familial
|
DPYDD
|
|
|
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Weissenbacher-Zweymuller Syndrome
|
Wzs
|
|
Pierre Robin Syndrome With Fetal Chondrodysplasia
|
OSMEDA
|
|
Weissenbacher-Zweymüller Syndrome
|
Heterozygous Osmed
|
|
Stickler Syndrome, Type 3
|
Osmed, Heterozygous
|
|
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
|
|
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
|
Ad Osmed
|
|
Stickler Syndrome Type 3
|
Stickler Syndrome, Non-Ocular Type
|
|
Stickler-Like Syndrome
|
Stickler Syndrome 3
|
|
Stickler Syndrome Non-Ocular Type
|
Stickler Syndrome Type Iii
|
|
Stl3
|
Weissenbacher-Zweymueller Syndrome
|
|
Stickler Syndrome, Type Iii
|
Pierre Robin Syndrome
|
|
Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
|
|
|
| Kniest Dysplasia |
|
Kniest Syndrome
|
Metatropic Dwarfism, Type Ii
|
|
Kniest Chondrodystrophy
|
Metatropic Dysplasia Type Ii
|
|
Swiss Cheese Cartilage Dysplasia
|
KD
|
|
Ks
|
Metatropic Dwarfism Type Ii
|
|
Dysplasia, Kniest
|
|
|
| Pontocerebellar Hypoplasia, Type 9 |
|
Pontocerebellar Hypoplasia Type 9
|
PCH9
|
|
Pontocerebellar Hypoplasia 9
|
Hypoplasia, Pontocerebellar, Type 9
|
|
|
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Osmed
|
Otospondylomegaepiphyseal Dysplasia
|
|
Chondrodystrophy With Sensorineural Deafness
|
Nance-Insley Syndrome
|
|
Nance-Sweeney Chondrodysplasia
|
OSMEDB
|
|
Insley-Astley Syndrome
|
Osmed Syndrome
|
|
Mega-Epiphyseal Dwarfism
|
Weissenbacher-Zweymuller Syndrome, Formerly
|
|
Wzs, Formerly
|
Nance Sweeney Chondrodysplasia
|
|
Oto-Spondylo-Mega-Epiphyseal Dysplasia
|
Oto-Spondylo-Megaepiphyseal Dysplasia
|
|
Megaepiphyseal Dwarfism
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Macroglossia |
|
Congenital Macroglossia
|
Enlarged Tongue
|
|
Giant Tongue
|
Acquired Macroglossia Nos
|
|
Congenital Hypertrophy Of Tongue
|
|
|
| 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
|
|
|
| Primary Angle-Closure Glaucoma |
|
Primary Angle Closure Glaucoma
|
Angle Closure Glaucoma
|
|
Acg - [Angle Closure Glaucoma]
|
Angle-Closure Glaucoma
|
|
Closed Angle Glaucoma
|
Acute Glaucoma
|
|
Prodromal Angle Closure Glaucoma
|
|
|
| Fibrochondrogenesis 2 |
|
FBCG2
|
Fibrochondrogenesis, Type 2
|
|
|
| Vitreous Syneresis |
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
|
Smd
|
Smed Strudwick Type
|
|
SEMDSTWK
|
Smed, Type I
|
|
Semdc
|
Smed Type 1
|
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Kohler'S Disease |
|
Kohler Disease
|
Aseptic Necrosis Of The Tarsal Bone
|
|
Osteochondrosis Of The Tarsal Bone
|
Juvenile Osteochondrosis Of Foot
|
|
Kohler'S Disease Of The Tarsal Navicular
|
Kohler'S Osteochondrosis Of The Tarsal Navicular
|
|
Navicular Osteochondrosis
|
Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone
|
|
Osteochondritis Of Tarsal/Metatarsal Bone
|
Avascular Necrosis Of The Tarsal Bone
|
|
Larsen-Johansson Syndrome
|
|
|
| Retinal Perforation |
|
Retinal Break
|
Retinal Perforations
|
|
Retinal Dialysis
|
Retinal Tear
|
|
Retinal Break Nos
|
Ruptured Retina
|
|
|
| Hypochondrogenesis |
|
Achondrogenesis Type Ii/Hypochondrogenesis
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Refractive Error |
|
|
| Achondrogenesis |
|
|
| Spondyloperipheral Dysplasia |
|
Spondyloperipheral Dysplasia With Short Ulna
|
Spondyloperipheral Dysplasia-Short Ulna Syndrome
|
|
SPD
|
Dysplasia, Spondyloperipheral
|
|
Spondyloperipheral Dysplasia Short Ulna
|
|
|
| Multiple Epiphyseal Dysplasia |
|
Med
|
Polyepiphyseal Dysplasia
|
|
Edm
|
Epiphyseal Dysplasia, Multiple, 1
|
|
Epiphyseal Dysplasia, Multiple, 2
|
Epiphyseal Dysplasia, Multiple, 3
|
|
Epiphyseal Dysplasia, Multiple, 4
|
Epiphyseal Dysplasia, Multiple, 5
|
|
Epiphyseal Dysplasia, Multiple
|
Edm1
|
|
Edm2
|
Edm3
|
|
Edm4
|
Edm5
|
|
Epiphyseal Dysplasia, Fairbank Type
|
Epiphyseal Dysplasia, Ribbing Type
|
|
Multiple Epiphyseal Dysplasia, Autosomal Dominant
|
Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
|
Rmed
|
Dysplasia, Epiphyseal, Multiple
|
|
Osteochondrodysplasias
|
|
|
| Spondyloepiphyseal Dysplasia Congenita |
|
SEDC
|
Sed Congenita
|
|
Spondyloepiphyseal Dysplasia, Congenital Type
|
Late Spondyloepiphyseal Dysplasia
|
|
Sed, Congenital Type
|
Congenital Spondyloepiphyseal Dysplasia
|
|
Spranger-Wiedemann Disease
|
Spondyloepiphyseal Dysplasia Congenital Type
|
|
Dysplasia, Spondyloepiphyseal, Congenita
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Caffey Disease |
|
Infantile Cortical Hyperostosis
|
CAFYD
|
|
Cortical Congenital Hyperostosis
|
Caffey-Silverman Syndrome
|
|
De Toni-Caffey Disease
|
Hyperostosis Cortical Infantile
|
|
Hyperostosis, Cortical, Congenital
|
|
|
| Vitreous Detachment |
|
Posterior Vitreous Detachment
|
Vitreous Syneresis
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Cleft Soft Palate |
|
Cleft Velum
|
Cleft Velum Palatinum
|
|
Soft Cleft Palate
|
Soft Palate Perforation
|
|
|
| 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
|
|
|
| Vitreous Disease |
|
Disorder Of Vitreous Body
|
|
|
| Persistent Hyperplastic Primary Vitreous |
|
Congenital Retinal Detachment
|
Ncrna Disease
|
|
Non-Syndromic Congenital Retinal Non-Attachment
|
Pfvs
|
|
Phpv
|
Persistent Fetal Vasculature Syndrome
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| 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
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Glaucoma, Primary Open Angle |
|
Glaucoma 1, Open Angle, E
|
Primary Open Angle Glaucoma
|
|
POAG
|
Adult-Onset Primary Open Angle Glaucoma
|
|
Chronic Simple Glaucoma
|
GLC1E
|
|
Primary Open Angle Glaucoma 1e
|
Glaucoma, Open Angle, Primary
|
|
|
| Nanophthalmos |
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
