| 疾病名称 |
别名 |
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| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
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MRXSCJ
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Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
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Mrxsj
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Intellectual Developmental Disorder, X-Linked Syndromic, Claes-Jensen Type
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Kdm5c-Related Syndromic X-Linked Intellectual Disability
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Kdm5c-Related X-Linked Syndromic Intellectual Disability
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| Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
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Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
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Mrxscj
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Mrxsj
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Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation
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Syndromic X-Linked Mental Retardation Jarid1c-Related
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| Plasma Cell Neoplasm |
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Plasma Cell Dyscrasia
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Paraproteinemias
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Plasma Cell Tumour
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Plasmacytic Tumor
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Multiple Myeloma
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Plasmacytoma
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Plasma Cell Tumours
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Plasma Cells Dyscrasia
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| Myeloma, Multiple |
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Multiple Myeloma
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Plasma Cell Myeloma
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Kahler Disease
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Myelomatosis
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Medullary Plasmacytoma
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Multiple Myeloma, Resistance To
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Myeloma
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Plasma Cell Dyscrasia
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Kahler'S Disease
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Multiple Myeloma, Susceptibility To
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Myeloma - Multiple
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Kahler-Bozzolo Disease
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Plasma Cell Myelomas
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MM
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Plasma Cell Neoplasm
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Primary Systemic Amyloidosis
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Primary Amyloidosis
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Immunoglobulin Deposition Disease
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Plasmacytic Myeloma
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Multiple Myelomata
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Multiple Myeloma Nos
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Multiple Myeloma Without Mention Of Remission
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Monostotic Plasma Cell Myeloma
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Mm - [Multiple Myeloma]
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| Partington Syndrome |
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X-Linked Reticulate Pigmentary Disorder
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PRTS
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Partington X-Linked Mental Retardation Syndrome
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Mrxs1
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Mrx36
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Intellectual Developmental Disorder, X-Linked, Syndromic 1
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Partington Disease
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Pdr
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Partington-Mulley Syndrome
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Russell-Silver Syndrome, X-Linked
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Mental Retardation, X-Linked, Syndromic 1
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Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
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Mental Retardation, X-Linked 36
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X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
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X-Linked Russell-Silver Syndrome
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Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
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Intellectual Disability, X-Linked, Syndromic 1
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Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
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Partington X-Linked Intellectual Disability Syndrome
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X-Linked Intellectual Deficit-Dystonia-Dysarthria
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X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
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Familial Cutaneous Amyloidosis
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X-Linked Cutaneous Amyloidosis
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Xlpdr
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X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
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Pigmentary Disorder, Reticulate, With Systemic Manifestations
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| Kleefstra Syndrome |
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9q34.3 Microdeletion Syndrome
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9q Subtelomeric Deletion Syndrome
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9q- Syndrome
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Chromosome 9q Deletion Syndrome
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9q34.3 Deletion Syndrome
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9qstds
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Chromosome 9q34.3 Deletion Syndrome
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Chromosome 9, Trisomy 9q
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| Syndromic X-Linked Intellectual Disability Siderius Type |
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Mrxssd
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Siderius-Hamel Syndrome
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Siderius X-Linked Mental Retardation Syndrome
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| Mohr-Tranebjaerg Syndrome |
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Deafness-Dystonia-Optic Neuronopathy Syndrome
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Jensen Syndrome
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Deafness Dystonia Syndrome
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MTS
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Dds
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Deafness-Dystonia-Optic Atrophy Syndrome
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Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
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Opticoacoustic Nerve Atrophy With Dementia
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Dystonia-Deafness Syndrome
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Ddp
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Ddon Syndrome
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Mohr-Tranebjærg Syndrome
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Deafness Dystonia Optic Atrophy Syndrome
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Deafness Dystonia Optic Neuronopathy Syndrome
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Dystonia Deafness Syndrome
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Ddon
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Deafness - Dystonia - Optic Neuronopathy Syndrome
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Deafness-Dystonia-Optic Neuronopathy Syndrome
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Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
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Dfn-1
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X-Linked Progressive Deafness Type 1
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| Kabuki Syndrome 1 |
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Kabuki Syndrome
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Niikawa-Kuroki Syndrome
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Kabuki Make-Up Syndrome
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Kms
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KABUK1
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Kabuki Make Up Syndrome
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Nks
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Kabuki Makeup Syndrome
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Kabuki Syndrome, Type 1
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| Weaver Syndrome |
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Wss
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Weaver-Smith Syndrome
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WVS
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Weaver-Like Syndrome
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Weaver-Williams Syndrome
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Camptodactyly-Overgrowth-Unusual Facies Syndrome
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Camptodactyly - Overgrowth - Unusual Facies
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Ezh2 Related Overgrowth
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Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly
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Weaver Smith Syndrome
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Weaver Like Syndrome
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Weaver Williams Syndrome
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Camptodactyly-Overgrowth-Unusual Facies
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Weaver Syndrome 1
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Weaver Syndrome 2
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Wvs1
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Wvs2
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| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Mrxs13
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Lindsay-Burn Syndrome
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Ppm-X
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Ppm-X Syndrome
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Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism
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Mental Retardation, X-Linked, Syndromic 13
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X-Linked Mental Retardation 79
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X-Linked Mental Retardation With Spasticity
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Intellectual Deficit, X-Linked - Psychosis - Macroorchidism
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Intellectual Disability Psychosis Macroorchidism
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Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism
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Intellectual Disability, X-Linked, Syndromic 13
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Ppmx
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X-Linked Mental Retardation, Syndromic 13
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| Borjeson-Forssman-Lehmann Syndrome |
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BFLS
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Borj
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Borjeson Syndrome
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Mrxsbfl
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Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
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Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
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Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
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Mental Retardation, Epilepsy, And Endocrine Disorders
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Mental Retardation, Epilepsy, And Endocrine Disorder
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Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
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Mental Deficiency, Epilepsy And Endocrine Disorders
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Boerjeson-Forssman-Lehmann Syndrome
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Borjeson-Forssman Syndrome
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Mental Deficiency-Epilepsy- Endocrine Disorders
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| Kleefstra Syndrome 1 |
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9q Subtelomeric Deletion Syndrome
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KLEFS1
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Chromosome 9q34.3 Deletion Syndrome
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9q- Syndrome
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9q34 Deletion Syndrome
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Kleefstra Syndrome Due To 9q34 Microdeletion
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Kleefstra Syndrome
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9q-Syndrome
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9qstds
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Kleefstra Syndrome Due To 9q Subtelomeric Deletion
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Kleefstra Syndrome Due To Del(9)(Q34)
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Kleefstra Syndrome Due To Monosomy 9q34
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Chromosome 9q Subtelomeric Deletion Syndrome
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Kleefstra Syndrome, Type 1
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| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
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Atr-X Syndrome
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Atr, Nondeletion Type
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Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
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Atrx Syndrome
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Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
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Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
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X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
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Xlmr Hypotonic Face Syndrome
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Alpha Thalassemia X-Linked Intellectual Disability Syndrome
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Alpha Thalassemia X-Linked Mental Retardation Syndrome
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Alpha Thalassemia/Mental Retardation, X-Linked
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Alpha-Thalassemia X-Linked Mental Retardation Syndrome
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Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
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X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
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Xlmr-Hypotonic Face Syndrome
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Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
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Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
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| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
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Proud Syndrome
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Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
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Acc With Abnormal Genitalia
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Proud-Levine-Carpenter Syndrome
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Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
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Corpus Callosum Agenesis With Abnormal Genitalia
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New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum
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Proud Levine Carpenter Syndrome
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Acc-Abnormal Genitalia Syndrome
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Agenesis Of The Corpus Callosum, With Abnormal Genitalia
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ACCAG
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Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
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Congenital Neurologic Anomalies
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| Renal Cell Carcinoma, Nonpapillary |
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Renal Cell Carcinoma
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RCC
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Nonpapillary Renal Cell Carcinoma
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Clear Cell Renal Cell Carcinoma
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Hypernephroma
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Adenocarcinoma Of Kidney
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Renal Carcinoma, Chromophobe, Somatic
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Clear Cell Carcinoma Of Kidney
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Clear-Cell Metastatic Renal Cell Carcinoma
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Clear Cell Renal Carcinoma
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Renal Cell Carcinoma, Somatic
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Conventional Renal Cell Carcinoma
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Conventional Renal Cell Carcinoma
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Renal Clear Cell Carcinoma
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Ccrcc
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Hereditary Clear Cell Renal Cell Carcinoma
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Carcinoma, Renal Cell
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Renal Cell Carcinoma, Clear Cell, Somatic
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Renal Cell Carcinoma, Clear Cell
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Clear Cell Kidney Carcinoma
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Clear Cell Rcc
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Cystic-Multilocular Variant
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Clear Cell Renal Cell Adenocarcinoma
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Hereditary Clear Cell Renal Cell Adenocarcinoma
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Common Renal Cell Carcinoma
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Crcc
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Renal Cell Carcinoma Non-Papillary
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Carcinoma Renal Cell
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Renal Cell Cancer
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Carcinoma, Renal Cell, Nonpapillary
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| Sotos Syndrome |
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Cerebral Gigantism
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SOTOS
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Chromosome 5q35 Deletion Syndrome
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Sotos Syndrome 1, Formerly
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Sotos1, Formerly
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Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
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Sotos Sequence
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Sotos' Syndrome
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Sotos1
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Sotos Syndrome 1
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| Autism Spectrum Disorder |
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Asd
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Autism Spectrum Disorders
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Autistic Continuum
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Pervasive Developmental Disorder
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Pervasive Development Disorder
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Autistic Behavior
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Autistic Disorder
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Autistic
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Childhood Autism
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Kanner Syndrome
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Pervasive Developmental Delay Nos
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Pervasive Developmental Disorder, Not Otherwise Specified
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| Syndromic X-Linked Intellectual Disability |
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X-Linked Syndromic Intellectual Disability
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| Developmental And Epileptic Encephalopathy 1 |
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Epileptic Encephalopathy, Early Infantile, 1
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Infantile Epileptic-Dyskinetic Encephalopathy
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DEE1
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Eiee1
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Issx1
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Xmesid
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X-Linked Infantile Spasm Syndrome 1
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X-Linked Infantile Spasm Syndrome
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X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
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Developmental And Epileptic Encephalopathy, 1
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Infantile Epileptic Dyskinetic Encephalopathy
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Infantile Spasm Syndrome, X-Linked 1
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West Syndrome, X-Linked
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Ohtahara Syndrome, X-Linked
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Early Infantile Epileptic Encephalopathy 1
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Early Infantile Epileptic Encephalopathy-1
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Issx
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X-Linked Ohtahara Syndrome
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X-Linked West Syndrome
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Infantile Spasm Syndrome X-Linked 1
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Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
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Ohtahara Syndrome X-Linked
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West Syndrome X-Linked
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Encephalopathy, Epileptic, Early Infantile, Type 1
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| Syndromic Intellectual Disability |
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| Autism |
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Autistic Disorder
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Autism Susceptibility 1
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Childhood Autism
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Kanner'S Syndrome
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Autistic
|
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| Chromosome 16p13.3 Deletion Syndrome, Proximal |
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Rubinstein-Taybi Syndrome
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Broad Thumb-Hallux Syndrome
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Chromosome 16p13.3 Deletion Syndrome
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Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
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Rubinstein Syndrome
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Broad Thumbs-Halluces Syndrome
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Rsts
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Rubinstein-Taybi Deletion Syndrome
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Rsts Deletion Syndrome
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Proximal Chromosome 16p13.3 Deletion Syndrome
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16p13.3 Deletion Syndrome
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Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
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Rts
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| Renal Cell Carcinoma, Papillary, 1 |
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Papillary Renal Cell Carcinoma
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Hereditary Papillary Renal Cell Carcinoma
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Papillary Renal Cell Carcinoma, Sporadic
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Papillary Renal Cell Adenocarcinoma
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RCCP
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RCCP1
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Renal Cell Carcinoma, Papillary
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Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
|
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Chromophil Carcinoma Of Kidney
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Papillary Kidney Carcinoma
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Sporadic Papillary Renal Cell Carcinoma
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Chromophil Renal Cell Carcinoma
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Papillary Renal Carcinoma, Malignant -
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Papillary Renal Cell Carcinoma, Bilateral -
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Papillary Renal Cell Carcinoma, Familial -
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Papillary Renal Cell Carcinoma, Multiple -
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Papillary Renal Cell Carcinoma, Sporadic -
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Renal Adenocarcinoma
|
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Chromophil Rcc
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Hprcc
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Renal Cell Carcinoma Papillary
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Chromophilic Renal Cell Carcinoma
|
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Prcc
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Carcinoma, Renal Cell, Papillary, Type 1
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Type 1 Papillary Renal Cell Carcinoma
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Renal Cell Carcinoma
|
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Hereditary Papillary Renal Carcinoma
|
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| Non-Syndromic X-Linked Intellectual Disability |
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X-Linked Non-Syndromic Intellectual Disability
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Non-Specific X-Linked Mental Retardation
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X-Linked Non-Specific Intellectual Disability
|
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| Alpha-Thalassemia |
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Alpha Thalassemia
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Alpha Thalassaemia
|
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Alpha Plus Thalassemia
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Thalassemia, Alpha-
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Thalassemias, Alpha-
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A-Thalassemia
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Α-Thalassemia
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A-THAL
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Thalassemia
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Alpha Thalassaemia Syndrome
|
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| Chromophobe Renal Cell Carcinoma |
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Chromophobe Adenocarcinoma
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Chromophobe Carcinoma Of Kidney
|
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Kidney Chromophobe
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Renal Cell Carcinoma, Chromophobe Cell
|
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Crcc
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Chrcc
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Chromophobe Renal Cell Adenocarcinoma
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Chromophobe Renal Carcinoma
|
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Chromophobe Carcinoma
|
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