| 疾病名称 |
别名 |
|
| 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
|
|
|
| Heimler Syndrome 1 |
|
Deafness Enamel Hypoplasia Nail Defects
|
Heimler Syndrome
|
|
HMLR1
|
Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
|
|
Peroxisome Biogenesis Disorder 1c
|
Pbd1c
|
|
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
|
Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
|
|
Peroxisomal Biogenesis Disorder 1c
|
Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
|
|
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome
|
Heimler, Syndrome
|
|
Heimler Syndrome, Type 1
|
|
|
| Peroxisome Biogenesis Disorder 1a |
|
PBD1A
|
Zs
|
|
Zws
|
Cerebrohepatorenal Syndrome
|
|
Chr
|
Zellweger Syndrome
|
|
Cerebro-Hepato-Renal Syndrome
|
Chr Syndrome
|
|
Zellweger'S Syndrome
|
Peroxisome Biogenesis Disorder Complementation Group 1
|
|
PBD-CG1
|
Cg1
|
|
Pbd-Cge
|
Peroxisome Biogenesis Disorder Complementation Group E
|
|
Peroxisome Biogenesis Disorder, Complementation Group 1
|
Cerebrohepatorenal Syndrome, Variant Types
|
|
Peroxisome Biogenesis Disorder Type 1a
|
Peroxisome Biogenesis Disorder, Type 1a
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| 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
|
|
|
| Zellweger Spectrum Disorder |
|
Zsd
|
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
|
|
Zellweger Spectrum
|
Cerebrohepatorenal Syndrome
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Zellweger Syndrome Spectrum
|
Zellweger Syndrome
|
|
|
| Refsum Disease, Infantile Form |
|
Infantile Refsum Disease
|
Ird
|
|
Infantile Form Of Phytanic Acid Storage Disease
|
|
|
| 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
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| Mulibrey Nanism |
|
MUL
|
Muscle-Liver-Brain-Eye Nanism
|
|
Pericardial Constriction And Growth Failure
|
Perheentupa Syndrome
|
|
Mulibrey Growth Disorder
|
Mulibrey Nanism Syndrome
|
|
Pericardial Constriction With Growth Failure
|
Nanism Mulibrey
|
|
|
| Rhizomelic Chondrodysplasia Punctata |
|
Chondrodysplasia Punctata, Rhizomelic
|
Rcdp
|
|
Chondrodysplasia Punctata, Rhizomelic Form
|
Rcp
|
|
Chondrodysplasia Punctata Rhizomelic
|
|
|
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Rhizomelic Chondrodysplasia Punctata Type 1
|
RCDP1
|
|
Peroxisome Biogenesis Disorder 9
|
Pbd9
|
|
Chondrodysplasia Punctata, Rhizomelic Form
|
Cdpr
|
|
Chondrodystrophia Calcificans Punctata
|
Rhizomelic Chondrodysplasia Punctata 1
|
|
Chondrodysplasia Punctata, Rhizomelic, Type 1
|
Chondrodysplasia Punctata, Rhizomelic
|
|
|
| D-Bifunctional Protein Deficiency |
|
Bifunctional Peroxisomal Enzyme Deficiency
|
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
|
|
Dbp Deficiency
|
Peroxisomal Bifunctional Enzyme Deficiency
|
|
Pbfe Deficiency
|
Bifunctional Enzyme Deficiency
|
|
Pseudo-Zellweger Syndrome
|
Zellweger-Like Syndrome
|
|
DBPD
|
Protein Deficiency, D-Bifunctional
|
|
|
| Epidermolysis Bullosa, Junctional 1b, Severe |
|
Epidermolysis Bullosa, Junctional, Herlitz Type
|
Epidermolysis Bullosa Letalis
|
|
JEB1B
|
Epidermolysis Bullosa Junctionalis, Herlitz Type
|
|
Jeb-Herlitz Type
|
Herlitz-Pearson-Type Epidermolysis Bullosa
|
|
Junctional Epidermolysis Bullosa Herlitz Type
|
Jeb-H
|
|
Junctional Epidermolysis Bullosa Generalisata Gravis
|
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
|
|
Epidermolysis Bullosa, Junctional, Generalized Severe
|
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
|
|
Herlitz Type Epidermolysis Bullosa Junctionalis
|
Severe Generalized Junctional Epidermolysis Bullosa
|
|
Junctional Epidermolysis Bullosa, Herlitz Type
|
Severe Generalized Jeb
|
|
Epidermolysis Letalis
|
Junctional Epidermolysis Bullosa Gravis
|
|
Junctional Epidermolysis Bullosa Herlitz-Pearson Type
|
Herlitz Disease
|
|
|
| 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
|
|
|
| Amelogenesis Imperfecta |
|
Ai
|
Congenital Enamel Hypoplasia
|
|
Al - [Amelogenesis Imperfecta]
|
|
|
| Hypomagnesemia 1, Intestinal |
|
Intestinal Hypomagnesemia 1
|
HOMG1
|
|
Hypomagnesemia With Secondary Hypocalcemia
|
Hsh
|
|
Hypomagnesemic Tetany
|
Intestinal Hypomagnesemia With Secondary Hypocalcemia
|
|
Homg
|
Hypomagnesemia Caused By Selective Magnesium Malabsorption
|
|
Hypomagnesemia Intestinal Type 1
|
Primary Hypomagnesemia With Secondary Hypocalcemia
|
|
Phsh
|
Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
|
|
Familial Primary Hypomagnesemia With Hypocalcuria
|
Hypomagnesemia 1
|
|
Hypomagnesmic Tetany
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
