| 疾病名称 |
别名 |
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| Epicanthus |
|
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| Brachydactyly, Type E2 |
|
Brachydactyly Type E2
|
BDE2
|
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Brachydactyly E2
|
|
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| Proximal Symphalangism |
|
Cushing'S Symphalangism
|
Symphalangism, Proximal
|
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Hereditary Absence Of Proximal Interphalangeal Joints
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Strasburger-Hawkins-Eldridge Syndrome
|
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Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome
|
Symphalangism, Proximal, 1a
|
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Symphalangism, Proximal, 1b
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Vessel'S Syndrome
|
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Symphalangism, Cushing Type
|
|
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| Diffuse Midline Glioma, H3 K27m-Mutant |
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Diffuse Intrinsic Pontine Glioma
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Dipg
|
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Infiltrative Brainstem Glioma
|
|
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| Hereditary Hemorrhagic Telangiectasia |
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Rendu-Osler-Weber Disease
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Hht
|
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Osler-Weber-Rendu Disease
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Telangiectasia, Hereditary Hemorrhagic
|
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Osler Hemorrhagic Telangiectasia Syndrome
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Orw Disease
|
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Osler Weber Rendu Syndrome
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Osler-Rendu-Weber Disease
|
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Osler-Weber-Rendu Syndrome
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Rendu-Osler Disease
|
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Telangiectasia Hereditary Hemorrhagic
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Telangiectasia Hemorrhagic, Hereditary
|
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Hht - [Hereditary Haemorrhagic Telangiectasia]
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Osler Haemorrhagic Telangiectasia Syndrome
|
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| Hyperostosis |
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Hypertrophy Of Bone
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Bone Hypertrophy
|
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Bone Thickening
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Periosteum Thickening
|
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| Persistent Mullerian Duct Syndrome |
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Persistent Müllerian Duct Syndrome
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Pmds
|
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Persistent Oviduct Syndrome
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Persistent Muellerian Duct Syndrome
|
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Female Genital Ducts In Otherwise Normal Male
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Hernia Uteri Inguinale
|
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Persistent Mullerian Duct Syndrome, Types 1 And 2
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Persistent Mullerian Derivatives
|
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| Brain Stem Cancer |
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Brain Stem Neoplasms
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Malignant Neoplasm Of Brain Stem
|
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Malignant Neoplasm Of Brainstem
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Neoplasm Of Adult Brain Stem
|
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Neoplasm Of Brain Stem
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Primary Brain Stem Neoplasm
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Primary Brain Stem Tumor
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Brain Stem Neoplasm
|
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Brain Stem--Cancer
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Brain Stem Neoplasms, Primary
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| Craniometaphyseal Dysplasia, Autosomal Dominant |
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Craniometaphyseal Dysplasia
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CMDD
|
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Cmdj
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Cmd
|
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Autosomal Dominant Craniometaphyseal Dysplasia
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Craniometaphyseal Dysplasia, Jackson Type
|
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Craniometaphyseal Dysplasia Jackson Type
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Autosomal Recessive Craniometaphyseal Dysplasia
|
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Cmdr
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Dysplasia, Craniometaphyseal, Autosomal Dominant
|
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Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
|
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| Fibrodysplasia Ossificans Progressiva |
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Myositis Ossificans Progressiva
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Progressive Myositis Ossificans
|
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FOP
|
Progressive Ossifying Myositis
|
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Myositis Ossificans
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Stone Man Syndrome
|
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Man Of Stone
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Myositis Ossificans Progressive
|
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Diffuse Progressive Ossifying Polymyositis
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Fibrodysplasia Ossificans Congenita
|
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Myositis Ossificans Progressiva, Site Unspecified
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Münchmeyer Disease
|
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Fop - [Fibrodysplasia Ossificans Progressiva]
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Progressive Myositis Ossificans Calcification
|
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| Diffuse Idiopathic Skeletal Hyperostosis |
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Hyperostosis, Diffuse Idiopathic Skeletal
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Ankylosing Vertebral Hyperostosis
|
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Dish
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Disseminated Idiopathic Skeletal Hyperostosis
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Forestier Disease
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Forestier'S Disease
|
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Hyperostosis Diffuse Idiopathic Skeletal
|
|
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| Leber Congenital Amaurosis 17 |
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LCA17
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Leber Congenital Amaurosis, Type 17
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|
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| Microphthalmia, Syndromic 6 |
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MCOPS6
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Microphthalmia And Pituitary Anomalies
|
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Microphthalmia With Brain And Digit Anomalies
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Microphthalmia With Brain And Digit Developmental Anomalies
|
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Syndromic Microphthalmia Type 6
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Syndromic Microphthalmia 6
|
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Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia
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Bakrania-Ragge Syndrome
|
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Orofacial Cleft 11
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Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
|
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Microphthalmia Syndromic 6
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Microphthalmia, Syndromic, 6
|
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Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia
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Microphthalmia Syndromic, Type 6
|
|
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| Childhood Brain Stem Glioma |
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Pediatric Glioma Of The Brainstem
|
|
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| Breast Cancer |
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Breast Carcinoma
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Breast Cancer, Familial
|
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Malignant Neoplasm Of Breast
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Male Breast Cancer
|
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Breast Cancer, Susceptibility To
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Breast Cancer, Early-Onset
|
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Malignant Tumor Of Breast
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Carcinoma Of Male Breast
|
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Breast Cancer, Invasive Ductal
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Breast Cancer, Protection Against
|
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Breast Cancer, Somatic
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Breast Cancer, Male
|
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Breast Cancer, Lobular, Somatic
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Breast Tumor
|
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Mammary Cancer
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Mammary Tumor
|
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Malignant Neoplasm Of Male Breast
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Mammary Carcinoma
|
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Male Breast Carcinoma
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Familial Cancer Of Breast
|
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Invasive Ductal Breast Carcinoma
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Breast Cancer Susceptibility
|
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Breast Cancer, Male, Susceptibility To
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Breast Cancer, Early-Onset, Susceptibility To
|
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Malignant Tumor Of The Breast
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Mammary Neoplasm
|
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Primary Breast Cancer
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Neoplasm Of Male Breast
|
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Carcinoma Of Breast
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Breast Cancer In Men
|
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Familial Breast Cancer
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Cancer Of Breast
|
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BC
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Breast Cancer Familial
|
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Breast Cancer Familial Male
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Breast Cancer, Familial Male
|
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Breast Male Carcinoma
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Breast Neoplasms
|
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Breast Neoplasms, Male
|
Mammary Tumors
|
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Mammary Carcinomas
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Cancer, Breast
|
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Cancer, Breast, Susceptibility
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Invasive Breast Ductal Carcinoma
|
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Breast Neoplasm
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Susceptibility To Breast Cancer
|
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Mammary Neoplasms
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Animal Mammary Neoplasms
|
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Primary Malignant Neoplasm Of Breast
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Infiltrating Ductal Carcinoma Of Breast
|
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Infiltrating Duct Carcinoma Of Unspecified Site
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Infiltrating Ductular Carcinoma Of Unspecified Site
|
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Invasive Breast Carcinoma Of No Special Type
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Microinvasive Carcinoma Of Breast
|
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Carcinoma With Apocrine Differentiation
|
|
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| Atrioventricular Septal Defect |
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AVSD
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Atrioventricular Canal Defect
|
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Avcd
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Endocardial Cushion Defect
|
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Ecd
|
Avc Defect
|
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Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
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Endocardial Cushion Defects
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Septal Defect, Atrioventricular
|
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Atrioventricular Defect With Atrial Shunting Only
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Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
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Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
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Primum Atrial Septal Defect
|
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Partial Atrioventricular Canal Defect With Isolated Atrial Component
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Partial Atrioventricular Septal Defect, Ostium Primum Type
|
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Ostium Primum Atrial Septal Defect
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Partial Atrioventricular Canal Defect
|
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Partial Atrioventricular Septal Defect
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Atrial Septum Primum Defect
|
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Atrioventricular Canal Defect With Isolated Ventricular Component
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Atrioventricular Canal Defect With Isolated Ventricular Communication
|
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Atrioventricular Septal Defect With Isolated Ventricular Component
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Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
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Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
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Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
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Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
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Intermediate Atrioventricular Canal Defect
|
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Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
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Intermediate Atrioventricular Septal Defect
|
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Transitional Atrioventricular Canal Defect
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Transitional Atrioventricular Septal Defect
|
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Complete Atrioventricular Canal With Atrial And Ventricular Components
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Complete Atrioventricular Canal Defect
|
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Complete Atrioventricular Septal Defect
|
|
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| Pseudohypoparathyroidism, Type Ia |
|
Albright'S Hereditary Osteodystrophy
|
Albright Hereditary Osteodystrophy
|
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Pseudohypoparathyroidism Type 1a
|
PHP1A
|
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Albright Hereditary Osteodystrophy With Multiple Hormone Resistance
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Pseudohypoparathyroidism Ia
|
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AHO
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Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
|
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Pseudo-Pseudohypoparathyroidism
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Pseudohypoparathyroidism Type I A
|
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Php Ia
|
Pseudopseudohypoparathyroidism
|
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Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance
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Pphp
|
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Pseudopseudo-Hypoparathyroidism
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Aho-Php Syndrome Ia
|
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Albright Hereditary Osteodystrophy-Php Syndrome Ia
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Pseudohypoparathyroidism 1a
|
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Pseudohypoparathyroidism
|
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| Aortic Valve Disease 1 |
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Aortic Valve Disease
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Bicuspid Aortic Valve
|
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Aortic Valve Disorder
|
AOVD1
|
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Bav
|
Bicuspid Aortic Valve Disease
|
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Familial Bicuspid Aortic Valve
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Aortic Valve Calcification
|
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Aovd
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Aortic Valve, Bicuspid
|
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Aortic Valve, Calcification Of
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Aortic Stenosis, Calcific
|
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Familial Bav
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Calcific Aortic Stenosis
|
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Calcification Of Aortic Valve
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Abnormality Of The Aortic Valve
|
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Aortic Valve Disease, Type 1
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Aortic Valve Disease 2
|
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Bicommissural Aortic Valve
|
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| Pulmonary Hypertension |
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Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
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Hypertension, Pulmonary
|
Idiopathic Pulmonary Hypertension
|
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Idiopathic Pulmonary Arterial Hypertension
|
Pulmonary Htn - [Hypertension]
|
|
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| Heel Spur |
|
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| Brain Stem Glioma |
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Brainstem Neuroglial Tumor
|
Brainstem Glioma
|
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Glioma Of Brainstem
|
|
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| Chronic Pulmonary Heart Disease |
|
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| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome
|
JPHT
|
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Jp/Hht Syndrome
|
Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
|
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Jps/Hht
|
Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
|
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Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
|
Jp-Hht
|
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JP/HHT
|
Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome
|
|
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| Camurati-Engelmann Disease |
|
Progressive Diaphyseal Dysplasia
|
Ced
|
|
Engelmann Disease
|
Diaphyseal Dysplasia 1, Progressive
|
|
Pdd
|
Diaphyseal Dysplasia
|
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Dpd1
|
Camurati-Engelmann Syndrome
|
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CAEND
|
Engelman'S Disease
|
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Diaphyseal Hyperostosis
|
Diaphyseal Osteosclerosis
|
|
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| Ankylosis |
|
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| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
Multiple Pterygium Syndrome, Autosomal Dominant
|
CPSFS1A
|
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Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a
|
Autosomal Dominant Disease
|
|
Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a
|
Cpskf1a
|
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Pterygium Syndrome, Multiple
|
Autosomal Dominant
|
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Arthrogryposis, Distal, Type 8, Formerly
|
Da8, Formerly
|
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Autosomal Dominant Multiple Pterygium Syndrome
|
Distal Arthrogryposis Type 8
|
|
Arthrogryposis, Distal, Type 8
|
Da8
|
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Pterygium Syndrome, Multiple, Autosomal Dominant
|
Autosomal Dominant Disorder
|
|
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| Myositis Ossificans |
|
Myisitis Ossificans
|
Ossification - Muscle
|
|
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| Synostoses, Tarsal, Carpal, And Digital |
|
Calcaneonavicular Coalition
|
Multiple Synostosis Syndrome
|
|
Synostoses, Tarsal, Carpal And Digital
|
|
|
| Histone Mutated Tumor |
|
|
| Joubert Syndrome 21 |
|
JBTS21
|
Joubert Syndrome, Type 21
|
|
|
| Gastric Adenocarcinoma |
|
Adenocarcinoma Of Stomach
|
Stomach Adenocarcinoma
|
|
Adenocarcinoma Gastric
|
Intestinal Type Adenocarcinoma Of Unspecified Site
|
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Diffuse Type Adenocarcinoma Of Unspecified Site
|
|
|
| Osseous Heteroplasia, Progressive |
|
Progressive Osseous Heteroplasia
|
POH
|
|
Osteoma Cutis
|
Familial Ectopic Ossification
|
|
Ectopic Ossification Familial Type
|
Ectopic Ossification
|
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Heterotopic Ossification
|
Ectopic Ossification, Familial
|
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Cutaneous Ossification
|
Myositis Ossificans Progressiva
|
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Osteodermia
|
Osteosis Cutis
|
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Ossification Heterotopic
|
Heteroplasia, Osseous, Progressive
|
|
Fibrodysplasia Ossificans Progressiva
|
|
|
| Tarsal-Carpal Coalition Syndrome |
|
TCC
|
Tarsal Carpal Coalition Syndrome
|
|
Nog-Related-Symphalangism Spectrum Disorder
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Brachydactyly, Type B2 |
|
Brachydactyly Type B2
|
BDB2
|
|
Brachydactyly B2
|
|
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| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Hemochromatosis Type 2 |
|
Juvenile Hemochromatosis
|
Juvenile Hereditary Hemochromatosis
|
|
Hfe2
|
Jhh
|
|
Hemochromatosis Juvenile
|
Iron Overload Disease Juvenile
|
|
Hemochromatosis, Juvenile
|
Hemochromatosis, Type 2
|
|
Hemochromatosis
|
Hemochromatosis, Type 1
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
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