| 疾病名称 |
别名 |
|
| Larsen Syndrome |
|
LRS
|
Larsen Syndrome, Dominant Type
|
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
|
Larsens Syndrome
|
|
|
| Boomerang Dysplasia |
|
BOOMD
|
Boomerang-Like Skeletal Dysplasia
|
|
Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies
|
Piepkorn Dysplasia
|
|
Dysplasia, Boomerang
|
|
|
| Atelosteogenesis, Type Iii |
|
Aoiii
|
Atelosteogenesis Type Iii
|
|
AO3
|
Atelosteogenesis Type 3
|
|
Atelosteogenesis 3
|
|
|
| Atelosteogenesis, Type I |
|
Aoi
|
Atelosteogenesis Type I
|
|
Giant Cell Chondrodysplasia
|
Spondylohumerofemoral Hypoplasia
|
|
AO1
|
Atelosteogenesis Type 1
|
|
Infantile Apnea
|
Apnea Of Infancy
|
|
Spondylo-Humero-Femoral Dysplasia
|
Apnea In Full-Term Infants
|
|
Atelosteogenesis 1
|
Atelosteogenesis, Type 1
|
|
Infant Apnea
|
|
|
| Spondylocarpotarsal Synostosis Syndrome |
|
SCT
|
Spondylocarpotarsal Syndrome
|
|
Vertebral Fusion With Carpal Coalition
|
Congenital Scoliosis With Unilateral Unsegmented Bar
|
|
Congenital Synspondylism
|
Spondylocarpotarsal Synostosis
|
|
Synspondylism, Congenital
|
Scoliosis, Congenital, With Unilateral Unsegmented Bar
|
|
Scoliosis, Congenital With Unilateral Unsegmented Bar
|
Synspondylism Congenital
|
|
Sct Syndrome
|
Synspondylism
|
|
|
| Atelosteogenesis |
|
|
| Synostosis |
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Lethal Chondrodysplasia |
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Cardiospondylocarpofacial Syndrome |
|
Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Of Carpal And Tarsal Bones
|
Forney Robinson Pascoe Syndrome
|
|
CSCF
|
Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And
|
|
Congenital Heart Disease, Deafness, And Skeletal Malformations
|
Forney Syndrome
|
|
Forney-Robinson-Pascoe Syndrome
|
Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome
|
|
Mitral Regurgitation-Hearing Loss-Skeletal Anomalies Syndrome
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Subacute Lymphocytic Thyroiditis |
|
|
| Melnick-Needles Syndrome |
|
MNS
|
Melnick-Needles Osteodysplasty
|
|
Osteodysplasty Of Melnick And Needles
|
Osteochondrodysplasias
|
|
|
| Otopalatodigital Syndrome, Type Ii |
|
Otopalatodigital Syndrome Type 2
|
Faciopalatoosseous Syndrome
|
|
OPD2
|
Opd Ii Syndrome
|
|
Opd Syndrome 2
|
Cranioorodigital Syndrome
|
|
Fpo
|
Oto-Palato-Digital Syndrome, Type Ii
|
|
Andre Syndrome
|
Oto-Palato-Digital Syndrome Type 2
|
|
Otopalatodigital Syndrome Type Ii
|
Cranio-Oro-Digital Syndrome
|
|
Opd 2 Syndrome
|
Opd Syndrome, Type 2
|
|
Taybi Syndrome
|
Otopalatodigital Syndrome 2
|
|
Oto-Palato-Digital Syndrome, Type 2
|
Oto-Palato-Digital Syndrome Type 1
|
|
|
| Scoliosis |
|
|
| Otopalatodigital Syndrome Spectrum Disorder |
|
Opd Spectrum Disorder
|
Opsd
|
|
Fronto-Otopalatodigital Osteodysplasia
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Graves' Disease |
|
Graves Disease
|
Exophthalmic Goiter
|
|
Basedow'S Disease
|
Grave'S Disease
|
|
Basedow Disease
|
Toxic Diffuse Goiter
|
|
Graves' Hyperthyroidism
|
Parry Disease
|
|
Autoimmune Hyperthyroidism
|
Toxic Multinodular Goiter
|
|
|
| Frontometaphyseal Dysplasia |
|
Fmd
|
Dysplasia, Frontometaphyseal
|
|
|
| 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
|
|
|
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar Myopathy 5
|
MFM5
|
|
Myopathy, Myofibrillar, Filamin C-Related
|
Filaminopathy, Autosomal Dominant
|
|
Filaminopathy
|
Muscle Filaminopathy
|
|
Autosomal Dominant Filaminopathy
|
Mfm Filamin C-Related
|
|
Myopathy Myofibrillar Filamin C-Related
|
Myopathy, Myofibrillar, Type 5
|
|
|
| Shox-Related Short Stature |
|
Idiopathic Familial Short Stature
|
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Terminal Osseous Dysplasia |
|
Terminal Osseous Dysplasia And Pigmentary Defects
|
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
|
|
Todpd
|
TOD
|
|
Odpd
|
Odpf Syndrome
|
|
Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula
|
Odpf
|
|
Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula
|
Terminal Osseous Dysplasia With Pigmentary Defects
|
|
Dcd
|
Digitocutaneous Dysplasia
|
|
Terminal Osseous Dysplasia And Pigmentary Defect Syndrome
|
Osseous Dysplasia And Pigmentary Defects
|
|
|
| Otopalatodigital Syndrome, Type I |
|
Otopalatodigital Syndrome Type 1
|
Taybi Syndrome
|
|
OPD1
|
Opd Syndrome 1
|
|
Oto-Palato-Digital Syndrome Type 1
|
Opd I Syndrome
|
|
Oto-Palato-Digital Syndrome, Type I
|
Otopalatodigital Syndrome Type I
|
|
Opd Syndrome
|
Cranioorodigital Syndrome
|
|
Faciopalatoosseous Syndrome
|
Fpo
|
|
Opd Syndrome, Type 1
|
Otopalatodigital Syndrome 1
|
|
|
| Heel Spur |
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Scheuermann Disease |
|
Scheuermann'S Disease
|
Spinal Osteochondrosis
|
|
Juvenile Osteochondrosis Of Spine
|
Familial Scheuermann Disease
|
|
Familial Scheuermann Juvenile Kyphosis
|
Familial Spinal Osteochondrosis
|
|
Scheuermann Juvenile Kyphosis
|
Juvenile Osteochondritis Of The Spine
|
|
Juvenile Osteochondrosis Of Scheurermann
|
Scheuermann'S Kyphosis
|
|
Sherman'S Disease
|
Juvenile Kyphosis
|
|
Scheuermann Kyphosis
|
[X]Spinal Osteochondrosis, Unspecified
|
|
|
| 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
|
|
|
| Type 1 Diabetes Mellitus |
|
Diabetes Mellitus, Insulin-Dependent
|
Diabetes Mellitus Type 1
|
|
IDDM
|
Type 1 Diabetes
|
|
Insulin-Dependent Diabetes Mellitus
|
T1D
|
|
Juvenile-Onset Diabetes
|
Jod
|
|
Diabetes Mellitus, Type 1
|
Diabetes Mellitus, Insulin-Dependent-1
|
|
Type I Diabetes Mellitus
|
Autoimmune Diabetes
|
|
Juvenile Diabetes
|
Juvenile-Onset Diabetes Mellitus
|
|
Diabetes, Insulin Dependent
|
Insulin-Dependent Diabetes Mellitus-1
|
|
Diabetes Mellitus Insulin-Dependent
|
Diabetes Autoimmune
|
|
Diabetes Mellitus, Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 1, Susceptibility To
|
|
Diabetes Type 1
|
Type I Diabetes
|
|
Diabetes, Autoimmune
|
T1dm - [Type 1 Diabetes Mellitus]
|
|
Iddm - [Insulin Dependent Diabetes Mellitus]
|
Type 1 Iddm
|
|
Juvenile Diabetes Mellitus Without Compications
|
Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
|
|
Juvenile-Onset Diabetes Mellitus Without Compications
|
Ketosis-Prone Diabetes Mellitus Without Compications
|
|
Juvenile-Onset-Type Diabetes Mellitus Without Compications
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Osteogenesis Imperfecta, Type Ii |
|
Vrolik Type Of Osteogenesis Imperfecta
|
Osteogenesis Imperfecta Type 2
|
|
OI2
|
Oi, Type Ii
|
|
Osteogenesis Imperfecta Congenita
|
Oic
|
|
Osteogenesis Imperfecta Type Ii
|
Lethal Osteogenesis Imperfecta
|
|
Oi Type 2
|
Osteogenesis Imperfecta Congenita Perinatal Lethal Form
|
|
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form
|
Perinatal Lethal Osteogenesis Imperfecta Congenita
|
|
Perinatally Lethal Oi
|
Osteogenesis Imperfecta 2
|
|
Oi-Ii
|
Oi-Iia
|
|
Oi Type Iia
|
Osteogenesis Imperfecta Type Iia
|
|
Osteogenesis Imperfecta Type Ii Autosomal Dominant
|
Oi Type Ii
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
|
|
| Bone Development Disease |
|
|
| Myofibrillar Myopathy |
|
Desmin Related Myopathy
|
Myotilinopathy
|
|
Myopathy, Myofibrillar
|
Alpha Beta Crystallinopathy
|
|
Desmin Storage Myopathy
|
Desminopathy
|
|
Filaminopathy
|
Protein Surplus Myopathy
|
|
Zaspopathy
|
Myofibrillar Myopathies
|
|
Myopathy, Myofibrillar, Desmin-Related
|
Myopathy, Desmin Storage
|
|
Mfm - [Myofibrillar Myopathy]
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
