| 疾病名称 |
别名 |
|
| Joubert Syndrome 32 |
|
|
| Basal Cell Nevus Syndrome |
|
Nevoid Basal Cell Carcinoma Syndrome
|
Gorlin Syndrome
|
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Nbccs
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BCNS
|
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Gorlin-Goltz Syndrome
|
Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
|
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Cerebral Gigantism Jaw Cysts
|
Cramer Niederdellmann Syndrome
|
|
Gorlin Syndrome Or Gorlin-Goltz Syndrome
|
Naevoid Basal Cell Carcinoma Syndrome
|
|
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| Medulloblastoma |
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MDB
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Cpnet
|
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Localized Primitive Neuroectodermal Tumor
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Classic Medulloblastoma
|
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Medulloblastoma Predisposition Syndrome
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Medulloblastoma, Somatic
|
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Brain Medulloblastoma
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Cns Pnet
|
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Infratentorial Primitive Neuroectodermal Tumor
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Neuroectodermal Tumors, Primitive
|
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Medulloblastomas
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Desmoplastic Medulloblastoma
|
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Medulloblastoma, With Extensive Nodularity
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Medulloblastoma Of Unspecified Site
|
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Medullomyoblastoma Of Unspecified Site
|
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| Meningioma, Familial |
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Meningioma
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Familial Meningioma
|
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Meningioma, Familial, Susceptibility To
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Meningeal Neoplasm
|
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Meningeal Neoplasms
|
Meningiomas
|
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Meningioma, Nf2-Related, Somatic
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Meningioma, Sis-Related
|
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Meningothelial Cell Tumor
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Neoplasm Of The Meninges
|
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Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
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MNGMA
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Meningioma, Benign, No Icd-O Subtype
|
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Intracranial Meningioma
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Meningothelial Cell Neoplasm
|
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Supratentorial Meningioma
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Primary Neoplasm Of Spinal Meninges
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Benign Intracranial Meningioma
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Benign Meningioma
|
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Meningeal Tumours
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Meningeal Sarcoma Of Unspecified Site
|
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Meningothelial Sarcoma Of Unspecified Site
|
|
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| Desmoplastic Nodular Medulloblastoma |
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Medulloblastoma With Extensive Nodularity
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Nodular Medulloblastoma
|
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Desmoplastic/Nodular Medulloblastoma
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Mben
|
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Medulloblastoma, With Extensive Nodularity
|
|
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| Oculomotor Apraxia |
|
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| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
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Cerebellooculorenal Syndrome 1
|
JBTS1
|
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Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
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Cpd4
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Cors1
|
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Joubert Syndrome And Related Disorders
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Jsrd
|
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
|
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Cerebello-Oculo-Renal Syndrome
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Cors
|
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Joubert-Bolthauser Syndrome
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Cpd Iv
|
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Classic Joubert Syndrome
|
Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
|
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Joubert Syndrome-1
|
Joubert Syndrome, Type 1
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Joubert'S Syndrome
|
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| Inherited Cancer-Predisposing Syndrome |
|
Hereditary Cancer-Predisposing Syndrome
|
|
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| Bap1 Tumor Predisposition Syndrome |
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Bap1-Related Tumor Predisposition Syndrome
|
Common Syndrome
|
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Bap1 Cancer Syndrome
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Bap1-Tpds
|
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Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms
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Tumor Predisposition Syndrome
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Tumor Susceptibility Linked To Germline Bap1 Mutations
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Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
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Tumor Predisposition
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| Microform Holoprosencephaly |
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Hpe, Minor Form
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Hpe-L
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Holoprosencephaly, Minor Form
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Holoprosencephaly-Like
|
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Microform Hpe
|
|
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| Basal Cell Carcinoma, Infundibulocystic |
|
Basal Cell Carcinoma With Follicular Differentiation
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Infundibulocystic Basal Cell Carcinoma
|
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Skin Infundibulocystic Basal Cell Carcinoma
|
|
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| Apraxia |
|
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| Ovary Leiomyosarcoma |
|
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| Basal Cell Carcinoma |
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Basal Cell Cancer
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Basal Cell Neoplasm
|
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Basal Cell Carcinoma Of Skin
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Malignant Basal Cell Tumor
|
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Basal Cell Tumor
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Epithelioma Basal Cell
|
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Malignant Basal Cell Neoplasm
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Rodent Ulcer
|
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Carcinoma Basal Cell
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Neoplasms, Basal Cell
|
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Basal Cell Carcinomas
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Experimental Organism Basal Cell Carcinoma
|
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Nodulo-Ulcerative Basal Cell Carcinoma
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Basalioma
|
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Basal Cell Epithelioma Of Skin
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Bcc - [Basal Cell Carcinoma] Of Skin
|
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Rodent Ulcer Of Skin
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Rodent Ulcer Of Unspecified Site
|
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Basal Cell Epithelioma Of Unspecified Site
|
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| Large Cell Medulloblastoma |
|
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| Primary Ovarian Insufficiency 6 |
|
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| Adult Medulloblastoma |
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Adult Brain Medulloblastoma
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Medulloblastoma, Adult
|
|
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| Focal Dermal Hypoplasia |
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Goltz Syndrome
|
Goltz-Gorlin Syndrome
|
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FDH
|
FODH
|
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Dhof
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Goltz Gorlin Syndrome
|
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Hypoplasia, Dermal, Focal
|
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| Cerebellar Medulloblastoma |
|
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| Bartholin'S Gland Adenoid Cystic Carcinoma |
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Bartholin Gland Adenoid Cystic Carcinoma
|
|
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| Infratentorial Cancer |
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Infratentorial Neoplasms
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Brain Neoplasm, Infratentorial
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Malignant Infratentorial Tumors
|
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| Clear Cell Meningioma |
|
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| Skin Carcinoma |
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Skin Cancer
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Carcinoma Of Skin
|
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Ca - Skin Cancer
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Cancer Of Skin
|
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Malignant Neoplasm Of Skin
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Melanoma And Non-Melanoma Skin Cancer
|
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Skin Cancers
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Cancer, Skin
|
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| Medullomyoblastoma |
|
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| Childhood Medulloblastoma |
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Medulloblastoma, Childhood
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Pediatric Medulloblastoma
|
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Medulloblastoma Childhood
|
|
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| Joubert Syndrome 8 |
|
JBTS8
|
Joubert Syndrome, Type 8
|
|
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| Neural Tube Defects |
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Spina Bifida
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Neural Tube Defect
|
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NTD
|
Neural Tube Defects, Susceptibility To
|
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Spinal Dysraphism
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Spina Bifida, Susceptibility To
|
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Rachischisis
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Cleft Spine
|
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Open Spine
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Hydrocele Spinalis
|
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Neural Tube Defect Nos
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Sb - [Spina Bifida]
|
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Spinal Hernia Nos
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Spinal Fissure Nos
|
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| Rhabdoid Meningioma |
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Papillary Meningioma
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Meningioma, Rhabdoid
|
|
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| Penis Carcinoma In Situ |
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Carcinoma In Situ Of Penis
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Bowen'S Disease Of Penis
|
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Grade Iii Squamous Intraepithelial Lesion Of Penis
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Penile Intraepithelial Neoplasia Grade Iii
|
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Queyrat'S Erythroplasia
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Erythroplasia Of Queyrat
|
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Pin - [Penile Intraepithelial Neoplasia]
|
|
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| Cerebral Falx Meningioma |
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Falcine Meningioma
|
Falx Cerebri Meningioma
|
|
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| Melanotic Medulloblastoma |
|
Medulloblastoma, Melanotic
|
|
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| Parasagittal Meningioma |
|
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| Meningothelial Meningioma |
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Meningotheliomatous Meningioma
|
|
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| Cerebral Convexity Meningioma |
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Cerebral Hemispheric Convexity Meningioma
|
|
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| Secretory Meningioma |
|
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| Cerebellum Cancer |
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Cerebellar Neoplasms
|
Cerebellar Cancer
|
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Malignant Tumor Of Cerebellum
|
Malignant Neoplasm Of Cerebellum
|
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| Polydactyly |
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Non-Syndromic Polydactyly
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Polydactyly, Postaxial
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Postaxial Polydactyly
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Supernumerary Digit
|
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Extra Digits
|
Hyperdactyly
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Polydactylia
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Polydactylism
|
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Supernumerary Digits
|
|
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| Pleomorphic Rhabdomyosarcoma |
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Adult Pleomorphic Rhabdomyosarcoma
|
Anaplastic Rhabdomyosarcoma
|
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Pleomorphic Rhabdomyosarcoma, Adult Type
|
|
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| Anterior Cranial Fossa Meningioma |
|
Meningioma Of The Anterior Fossa
|
|
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| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Severe Congenital Encephalopathy Due To Mecp2 Mutation
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Severe Neonatal-Onset Encephalopathy With Microcephaly
|
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Encephalopathy, Neonatal Severe
|
Neonatal Severe Encephalopathy Due To Mecp2 Mutations
|
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Mecp2-Related Severe Neonatal Encephalopathy
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Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
|
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Severe Neonatal Encephalopathy Due To Mecp2 Mutations
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ENS-MECP2
|
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Encephalopathy, Neonatal, Severe
|
|
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| Rhabdomyosarcoma |
|
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| Greig Cephalopolysyndactyly Syndrome |
|
GCPS
|
Polysyndactyly With Peculiar Skull Shape
|
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Polysyndactyly With Peculiars Skull Shape
|
Greig Syndrome
|
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Cephalopolysyndactyly Syndrome
|
Greig Cephalo-Poly-Syndactyly Syndrome
|
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Cephalopolysyndactyly, Greig Syndrome
|
Aarskog Syndrome
|
|
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| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
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| Neurilemmomatosis |
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Schwannomatosis
|
Neurofibromatosis Type 3
|
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Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
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Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
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Multiple Neurilemmomas
|
Multiple Schwannomas
|
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Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
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Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
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Nf3 - [Neurofibromatosis Type 3]
|
|
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| Acrocallosal Syndrome |
|
ACLS
|
Schinzel Acrocallosal Syndrome
|
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Joubert Syndrome 12
|
Schinzel Syndrome 1
|
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Acrocallosal Syndrome, Schinzel Type
|
Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
|
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Acs
|
Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
|
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Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum
|
JBTS12
|
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Acrocallosal Syndrome
|
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|
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| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
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Sdty1
|
Zygodactyly
|
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Syndactyly, Type I
|
Sd1
|
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Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
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Non-Syndromic Syndactyly
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Symphalangy
|
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Webbing Of Digits
|
Syndactyly, Type 1
|
|
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| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
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EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Li-Fraumeni Syndrome |
|
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
|
Li-Fraumeni Syndrome 1
|
|
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| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
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