| 疾病名称 |
别名 |
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| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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NEDCAS
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Neurodevelopmental Disorder With Cerebellar Atrophy, With/Without Seizures
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| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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RMFSL
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Rigidity And Multifocal Seizure, Lethal Neonatal Syndrome
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| Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome |
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Lethal Neonatal Rigidity-Multifocal Seizure Syndrome
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| Hypertonia |
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| Hyperekplexia 4 |
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| Syndromic X-Linked Intellectual Disability Hedera Type |
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Mental Retardation, X-Linked, Syndromic, Hedera Type
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Mrxe
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Mrxsh
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| Developmental And Epileptic Encephalopathy 94 |
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Epileptic Encephalopathy, Childhood-Onset
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Eeoc
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DEE94
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Childhood Onset Epileptic Encephalopathy
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Encephalopathy, Epileptic, Childhood-Onset
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| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
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Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
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EPRPDC
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Re-Ped-Wc
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Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp
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Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp
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Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
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Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia
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Rolandic Epilepsy Exercise-Induced Dystonia
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Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
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| Schindler Disease, Type I |
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Schindler Disease Type 1
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Alpha-N-Acetylgalactosaminidase Deficiency Type 1
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Schindler Disease Type 3
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Alpha-N-Acetylgalactosaminidase Deficiency Type 3
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Naga Deficiency Type 3
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Neuroaxonal Dystrophy, Schindler Type
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Naga Deficiency Type 1
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Alpha-N-Acetylgalactosaminidase Deficiency, Type I
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Naga Deficiency, Type I
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Schindler Disease, Type Iii
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N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii
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Alpha-N-Acetylgalactosaminidase Deficiency, Type 1
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Naga Deficiency, Type 1
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Schindler Disease Type I
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Schindler Disease
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SCHIND
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Schindler Disease, Type 3
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Schindler Disease, Type 1
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| Alacrima, Achalasia, And Mental Retardation Syndrome |
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AAMR
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Alacrima, Achalasia, And Intellectual Disability Syndrome
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Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
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Intellectual Disability
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| Astereognosia |
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Somatosensory Agnosia
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Tactile Agnosia
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| Cold-Induced Sweating Syndrome |
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Crisponi Syndrome
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Sohar-Crisponi Syndrome
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Ciss
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Cntf Receptor-Related Disorders
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Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death
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Sweating Syndrome, Cold-Induced
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| Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
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Cmt4x
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Cmtx4
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Cowchock Syndrome
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X-Linked Charcot-Marie-Tooth Disease Type 4
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Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
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Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
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Nadmr
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Namsd
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| Microcephaly |
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Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
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| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Jankovic-Rivera Syndrome
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SMAPME
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Sma-Pme
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Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
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Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome
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Hereditary Myoclonus With Progressive Distal Muscular Atrophy
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Jankovic Rivera Syndrome
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Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
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Myoclonus Hereditary Progressive Distal Muscular Atrophy
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Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
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| Myopathy, Myofibrillar, 8 |
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Myofibrillar Myopathy 8
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MFM8
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Myopathy, Myofibrillar, Type 8
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| Myopathy, Myofibrillar, 7 |
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Myofibrillar Myopathy 7
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MFM7
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Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome
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Myopathy, Myofibrillar, Type 7
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| Pitt-Hopkins Syndrome |
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PTHS
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Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
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Mental Retardation, Syndromal, With Intermittent Hyperventilation
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Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
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Pitt Hopkins Syndrome
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Phs
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Encephalopathy Severe Epileptic With Autonomic Dysfunction
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| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Pcwh Syndrome
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PCWH
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Neurologic Waardenburg-Shah Syndrome
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Waardenburg-Shah Syndrome, Neurologic Variant
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Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome
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Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
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Ws4 Plus
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Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
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Waardenburg-Shah Syndrome Neurologic Variant
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| Mowat-Wilson Syndrome |
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MOWS
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Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
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Hirschsprung Disease-Mental Retardation Syndrome
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Mowat-Wilson Syndrome Due To Monosomy 2q22
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Hirschsprung Disease Mental Retardation Syndrome
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Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
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Hirschsprung Disease - Intellectual Disability Syndrome
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Hirschsprung Disease Intellectual Disability Syndrome
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Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
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Mws
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Hirschsprung Disease-Intellectual Disability Syndrome
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Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
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Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
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Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
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Mowat-Wilson Syndrome Due To 2q22 Microdeletion
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Mowat-Wilson Syndrome Due To Del(2)Q(22)
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Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
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Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
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| Familial Febrile Seizures |
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Familial Febrile Convulsions
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Feb
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Febrile Seizures, Familial
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| Early Infantile Epileptic Encephalopathy |
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Early Infantile Epileptic Encephalopathy With Burst-Suppression
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Early Infantile Epileptic Encephalopathy With Suppression Bursts
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Eiee
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Early Infantile Epileptic Encephalopathy With Suppression-Bursts
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Ohtahara Syndrome
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Encephalopathy, Epileptic, Early Infantile
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| Early Myoclonic Encephalopathy |
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Myoclonic Epilepsy
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Myoclonic Seizure
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Epilepsies, Myoclonic
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Epileptic Seizures - Myoclonic
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Epileptic Seizures, Myoclonic
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Myoclonia Epileptica
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Myoclonic Seizure Disorder
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Early Myoclonic Encephalopathy With Suppression-Bursts
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| Breast Cancer |
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Breast Carcinoma
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Male Breast Cancer
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Breast Cancer, Familial
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Malignant Neoplasm Of Breast
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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
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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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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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| Benign Epilepsy With Centrotemporal Spikes |
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Rolandic Epilepsy
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Benign Rolandic Epilepsy
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Epilepsy, Rolandic
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Bcects
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Benign Childhood Epilepsy With Centrotemporal Spike
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Sylvan Seizures
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Becrs
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Bects
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Bre
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Benign Epilepsy Of Childhood With Centrotemporal Spikes
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Benign Familial Epilepsy Of Childhood With Rolandic Spikes
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Centrotemporal Epilepsy
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