| 疾病名称 |
别名 |
|
| Pontocerebellar Hypoplasia, Type 4 |
|
Pontocerebellar Hypoplasia Type 4
|
PCH4
|
|
Olivopontocerebellar Hypoplasia
|
Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia
|
|
Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia
|
Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia
|
|
Pontocerebellar Hypoplasia 4
|
Young Mckeever Squier Syndrome
|
|
Hypoplasia, Pontocerebellar, Type 4
|
|
|
| Pontocerebellar Hypoplasia, Type 2a |
|
Pontocerebellar Hypoplasia Type 2a
|
PCH2A
|
|
Pch2
|
Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy
|
|
Volendam Neurodegenerative Disease
|
Pontocerebellar Hypoplasia 2a
|
|
Hypoplasia, Pontocerebellar, Type 2a
|
|
|
| Pontocerebellar Hypoplasia, Type 5 |
|
Pontocerebellar Hypoplasia Type 5
|
Olivopontocerebellar Hypoplasia, Fetal-Onset
|
|
PCH5
|
Olivopontocerebellar Hypoplasia Fetal-Onset
|
|
Pontocerebellar Hypoplasia 5
|
Hypoplasia, Pontocerebellar, Type 5
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Hypertonia |
|
|
| Non-Syndromic Pontocerebellar Hypoplasia |
|
Pontoneocerebellar Hypoplasia
|
Pch
|
|
Pontoneocerebellar Atrophy
|
|
|
| Amblyopia |
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
Pontocerebellar Hypoplasia Type 2
|
Pontocerebellar Hypoplasia Type 2e
|
|
Pch2
|
PCH2E
|
|
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
|
Pontocerebellar Hypoplasia 2e
|
|
Pcca2
|
Progressive Cerebello-Cerebral Atrophy Type 2
|
|
Doid:0112328
|
Hypoplasia, Pontocerebellar, Type 2e
|
|
Pontocerebellar Hypoplasia, Type 2d
|
Pontocerebellar Hypoplasia Type 2a
|
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Pontocerebellar Hypoplasia, Type 12 |
|
PCH12
|
Pontocerebellar Hypoplasia Type 12
|
|
Coasy-Related Pontocerebellar Hypoplasia
|
Pontocerebellar Hypoplasia 12
|
|
Doid:0112327
|
Hypoplasia, Pontocerebellar, Type 12
|
|
|
| Pontocerebellar Hypoplasia, Type 6 |
|
Pontocerebellar Hypoplasia Type 6
|
PCH6
|
|
Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
|
Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
|
|
Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
|
Pontocerebellar Hypoplasia 6
|
|
Hypoplasia, Pontocerebellar, Type 6
|
|
|
| Pontocerebellar Hypoplasia, Type 15 |
|
PCH15
|
Pontocerebellar Hypoplasia Type 15
|
|
Pontocerebellar Hypoplasia 15
|
Doid:0112326
|
|
|
| Pontocerebellar Hypoplasia, Type 2f |
|
PCH2F
|
Pontocerebellar Hypoplasia Type 2f
|
|
Pontocerebellar Hypoplasia 2f
|
Doid:0112329
|
|
Hypoplasia, Pontocerebellar, Type 2f
|
|
|
| Pontocerebellar Hypoplasia, Type 1d |
|
PCH1D
|
Pontocerebellar Hypoplasia Type 1d
|
|
Pontocerebellar Hypoplasia 1d
|
Doid:0112323
|
|
Hypoplasia, Pontocerebellar, Type 1d
|
|
|
| Pontocerebellar Hypoplasia, Type 1e |
|
Pontocerebellar Hypoplasia Type 1
|
PCH1E
|
|
Norman Disease
|
Pch1
|
|
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
|
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
|
|
Pontocerebellar Hypoplasia Type 1e
|
Pontocerebellar Hypoplasia 1e
|
|
Doid:0112322
|
Doid:0112330
|
|
|
| Pontocerebellar Hypoplasia, Type 2d |
|
Pontocerebellar Hypoplasia Type 2d
|
Pcca
|
|
PCH2D
|
Progressive Cerebello-Cerebral Atrophy
|
|
Cerebellocerebral Atrophy, Progressive
|
Pontocerebellar Hypoplasia 2d
|
|
Progressive Cerebellocerebral Atrophy
|
Hypoplasia, Pontocerebellar, Type 2d
|
|
|
| Syndromic X-Linked Intellectual Disability Najm Type |
|
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
|
Micpch
|
|
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
|
|
|
| Pontocerebellar Hypoplasia, Type 11 |
|
PCH11
|
Pontocerebellar Hypoplasia Type 11
|
|
Pontocerebellar Hypoplasia Due To Tbc1d23
|
Pontocerebellar Hypoplasia 11
|
|
Doid:0112324
|
|
|
| Pontocerebellar Hypoplasia, Type 16 |
|
PCH16
|
Pontocerebellar Hypoplasia Type 16
|
|
Pontocerebellar Hypoplasia 16
|
Doid:0112333
|
|
|
| Pontocerebellar Hypoplasia, Type 1c |
|
PCH1C
|
Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia
|
|
Pontocerebellar Hypoplasia Type 1c
|
Pontocerebellar Hypoplasia 1c
|
|
Doid:0112334
|
Hypoplasia, Pontocerebellar, Type 1c
|
|
|
| Anterior Horn Cell Disease |
|
|
| Phosphoserine Aminotransferase Deficiency |
|
Psat Deficiency
|
PSATD
|
|
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
|
Psat Deficiency, Infantile/Juvenile Form
|
|
Deficiency, Phosphoserine Aminotransferase
|
|
|
| Peho Syndrome |
|
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
|
PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
|
Progressive Encephalopathy-Optic Atrophy Syndrome
|
|
|
| Polyhydramnios |
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Leukoencephalopathy With Vanishing White Matter |
|
Cree Leukoencephalopathy
|
Vanishing White Matter Disease
|
|
Ovarioleukodystrophy
|
Vanishing White Matter Leukodystrophy
|
|
Childhood Ataxia With Central Nervous System Hypomyelinization
|
Cach
|
|
Cach Syndrome
|
Myelinosis Centralis Diffusa
|
|
VWM
|
Cle
|
|
Childhood Ataxia With Central Nervous System Hypomyelination
|
Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
|
|
Cach/Vwm
|
Cach/Vwm Syndrome
|
|
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter
|
Cree Leukoencehalopathy
|
|
Late Infantile Cach Syndrome
|
Juvenile Or Adult Cach Syndrome
|
|
Congenital Or Early Infantile Cach Syndrome
|
Leukodystrophy With Vanishing White Matter
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
