| 疾病名称 |
别名 |
|
| Peroxisome Biogenesis Disorder 8b |
|
PBD8B
|
Peroxisome Biogenesis Disorder, Type 8b
|
|
|
| Peroxisome Biogenesis Disorder 8a |
|
PBD8A
|
Peroxisome Biogenesis Disorder Complementation Group 9
|
|
PBD-CG9
|
Cg9
|
|
Pbd-Cgd
|
Peroxisome Biogenesis Disorder Complementation Group D
|
|
Peroxisome Biogenesis Disorder, Type 8a
|
|
|
| Peroxisome Biogenesis Disorder 1b |
|
Peroxisome Biogenesis Disorder
|
Infantile Refsum Disease
|
|
Infantile Phytanic Acid Storage Disease
|
PBD1B
|
|
Refsum Disease, Infantile
|
Adrenoleukodystrophy, Autosomal Neonatal
|
|
Ird
|
Mild Pbd-Zsd
|
|
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
Pbd-Zsd
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
Autosomal Neonatal Adrenoleukodystrophy
|
Refsum Disease Infantile
|
|
Peroxisome Biogenesis Disorders
|
Peroxisome Biogenesis Disorder, Type 1b
|
|
|
| Zellweger Spectrum Disorder |
|
Zsd
|
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
|
|
Zellweger Spectrum
|
Cerebrohepatorenal Syndrome
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Zellweger Syndrome Spectrum
|
Zellweger Syndrome
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Neonatal Adrenoleukodystrophy |
|
Nald
|
Adrenoleukodystrophy Autosomal Neonatal Form
|
|
Intermediate Pbd-Zsd
|
Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
Adrenoleukodystrophy, Autosomal, Neonatal Form
|
Adrenoleukodystrophy Neonatal
|
|
Adrenoleukodystrophy, Neonatal
|
|
|
| Rhizomelic Chondrodysplasia Punctata |
|
Chondrodysplasia Punctata, Rhizomelic
|
Rcdp
|
|
Chondrodysplasia Punctata, Rhizomelic Form
|
Rcp
|
|
Chondrodysplasia Punctata Rhizomelic
|
|
|
| Spastic Paraplegia 46, Autosomal Recessive |
|
SPG46
|
Hereditary Spastic Paraplegia 46
|
|
Autosomal Recessive Spastic Paraplegia Type 46
|
Autosomal Recessive Spastic Paraplegia 46
|
|
Paraplegia, Spastic, Type 46, Autosomal Recessive
|
|
|
| Peroxisomal Biogenesis Disorder |
|
Zellweger Spectrum Disorders
|
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
|
|
Disorders Of Peroxisome Biogenesis
|
Zellweger Spectrum
|
|
Zellweger Syndrome Spectrum
|
Peroxisomal Biogenesis Disorders
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Pbd-Zss
|
Pbd-Zellweger Spectrum Disorder
|
|
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum
|
Peroxisome Biogenesis Disorder
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorders
|
|
Zellweger Spectrum Disorder
|
Hyperpipecolic Acidaemia
|
|
|
| Adrenoleukodystrophy |
|
X-Linked Adrenoleukodystrophy
|
ALD
|
|
Siemerling-Creutzfeldt Disease
|
X-Ald
|
|
X-Linked Cerebral Adrenoleukodystrophy
|
Bronze Schilder Disease
|
|
Melanodermic Leukodystrophy
|
Addison Disease And Cerebral Sclerosis
|
|
Adrenomyeloneuropathy, Adult
|
Diffuse Sclerosis
|
|
X-Cald
|
Adrenomyeloneuropathy
|
|
Encephalitis Periaxialis Concentrica
|
Encephalitis Periaxialis, Schilder'S
|
|
Sudanophilic Cerebral Sclerosis
|
Ald Childhood Cerebral Form
|
|
Adrenoleukodystrophy X-Linked Cerebral Form
|
Adrenoleukodystrophy Childhood Cerebral Form
|
|
Childhood Cerebral Ald
|
Schilder Disease
|
|
X-Linked Ald
|
Adrenoleukodystrophy, X-Linked
|
|
Amn
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
Systemic Scleroderma
|
Balo'S Concentric Sclerosis
|
|
Ald - [Adrenoleukodystrophy]
|
Addison-Schilder
|
|
|
| Frontonasal Dysplasia 2 |
|
FND2
|
Frontonasal Dysplasia With Alopecia And Genital Anomaly
|
|
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
|
Alx4-Related Fndag
|
|
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism
|
Frontonasal Dysplasia Type 2
|
|
Frontonasal Dysplasia With Alopecia And Genital Abnomality
|
Doid:0081046
|
|
Dysplasia, Frontonasal, Type 2
|
|
|
| Spastic Ataxia 4 |
|
|
| Mitochondrial Dna Depletion Syndrome 13 |
|
MTDPS13
|
Fbxl4 Deficiency
|
|
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome
|
Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
|
|
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy
|
Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
|
|
Bxl4-Related Early-Onset Mitochondrial Encephalopathy
|
Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
|
|
Fbxl4-Related Early Onset Mitochondrial Encephalopathy
|
Mitochondrial Dna Depletion Syndrome, Type 13
|
|
|
| Mitochondrial Dna Depletion Syndrome 3 |
|
Deoxyguanosine Kinase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
|
MTDPS3
|
Dguok Deficiency
|
|
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
Dguok-Related Mitochondrial Dna Depletion Syndrome
|
|
Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
Mtdna Depletion Syndrome, Hepatocerebral Form
|
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency
|
Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
|
|
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 3
|
|
|
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Midas Syndrome
|
Mcops7
|
|
Mls Syndrome
|
Microphthalmia, Syndromic 7
|
|
Microphthalmia With Linear Skin Defects Syndrome
|
Microphthalmia With Linear Skin Defects
|
|
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome
|
Syndromic Microphthalmia Type 7
|
|
LSDMCA1
|
Mls
|
|
Microphthalmia, Dermal Aplasia, And Sclerocornea
|
Microphthalmia With Linear Skin Defect Syndrome
|
|
Syndromic Microphthalmia 7
|
Linear Skin Defects With Multiple Congenital Anomalies
|
|
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome
|
Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
|
|
Micropthalmia Syndromic 7
|
Microphthalmia Syndromic 7
|
|
Microphthalmia With Linear Skin Lesions Syndrome
|
Syndromic Microphthalmia-7
|
|
Microphthalmia, Dermal Aplasia And Sclerocornea
|
Microphthalmia, Syndromic, 7
|
|
Midas
|
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| Chondrodysplasia Punctata Syndrome |
|
Chondrodysplasia Punctata
|
Chondrodysplasia Punctata Congenita
|
|
Toriello Higgins Miller Syndrome
|
Chondrodysplasia Punctata, Toriello Type
|
|
Toriello-Higgins-Miller Syndrome
|
Cdp
|
|
Chondrodysplasia Punctata, X-Linked Dominant Type
|
Chondrodysplasia Punctata Group
|
|
Dysplasia Punctata Epiphysis
|
Dysplasia Punctata
|
|
Dysplasia Epiphysealis Punctata
|
Chondrodystrophy Of Punctata
|
|
|
| Refsum Disease, Classic |
|
Refsum Disease
|
Heredopathia Atactica Polyneuritiformis
|
|
Phytanic Acid Oxidase Deficiency
|
Hmsn Iv
|
|
Refsum Disease, Adult, 1
|
Refsum'S Disease
|
|
Phytanic Acid Storage Disease
|
Hereditary Motor And Sensory Neuropathy Iv
|
|
Hmsn4
|
Hmsn Type Iv
|
|
Hmsn 4
|
Adult Refsum Disease
|
|
Classic Refsum Disease
|
Hereditary Motor And Sensory Neuropathy Type Iv
|
|
Refsum Syndrome
|
Hsmn Iv
|
|
Disorder Of Cornification 11
|
Doc 11
|
|
Hereditary Sensory And Motor Neuropathy Type 4
|
Hypertrophic Neuropathy Of Refsum
|
|
Ard
|
Crd
|
|
Hereditary Motor And Sensory Neuropathy Type 4
|
Phytanic-Coa Hydroxylase Deficiency
|
|
RD
|
|
|
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Ocular Albinism With Sensorineural Deafness
|
OASD
|
|
Deafness And Ocular Albinism
|
Ocular Albinism With Late-Onset Sensorineural Deafness
|
|
Albinism, Ocular, With Sensorineural Deafness
|
Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
|
|
Digenic Waardenburg Syndrome/Albinism
|
Digenic Waardenburg Syndrome/Ocular Albinism
|
|
Ws2-Oa
|
Albinism Ocular Late Onset Sensorineural Deafness
|
|
Ocular Albinism With Late-Onset Sensorineural Hearing Loss
|
Waardenburg Syndrome/Ocular Albinism, Digenic
|
|
Waardenburg Syndrome/Albinism, Digenic
|
Ocular Albinism And Sensorineural Deafness
|
|
|
| Developmental And Epileptic Encephalopathy 2 |
|
Epileptic Encephalopathy, Early Infantile, 2
|
DEE2
|
|
Eiee2
|
Issx2
|
|
Developmental And Epileptic Encephalopathy, 2
|
Infantile Spasm Syndrome, X-Linked 2
|
|
Early Infantile Epileptic Encephalopathy 2
|
X-Linked Infantile Spasm Syndrome 2
|
|
Atypical Rett Syndrome Cdkl5-Related
|
Atypical Rett Syndrome Hanefeld Variant
|
|
Infantile Spasm Syndrome X-Linked 2
|
Rett Syndrome Early-Onset Seizure Variant
|
|
Rett Syndrome Variant With Infantile Spasms
|
Encephalopathy, Epileptic, Early Infantile, Type 2
|
|
|
| Parietal Foramina |
|
Enlarged Parietal Foramina
|
Hereditary Cranium Bifidum
|
|
Symmetric Parietal Foramina
|
Catlin Marks
|
|
Foramina Parietalia Permagna
|
Caitlin Marks
|
|
Cranium Bifidum
|
Cranium Bifidum Occultum
|
|
Fenestrae Parietals Symmetricae
|
Fpp
|
|
Giant Parietal Foramina
|
Pfm
|
|
Fenestrae Parietales Symmetricae
|
Foramina, Parietal
|
|
|
| Constipation |
|
|
| Spastic Ataxia |
|
|
