| 疾病名称 |
别名 |
|
| Peroxisome Biogenesis Disorder 4a |
|
PBD4A
|
Peroxisome Biogenesis Disorder Complementation Group 4
|
|
PBD-CG4
|
Cg4
|
|
Pbd-Cg6
|
Pbd-Cgc
|
|
Peroxisome Biogenesis Disorder Complementation Group 6
|
Peroxisome Biogenesis Disorder Complementation Group C
|
|
Peroxisome Biogenesis Disorder, Type 4a
|
|
|
| Heimler Syndrome 2 |
|
HMLR2
|
Peroxisome Biogenesis Disorder 4c
|
|
Pbd4c
|
Peroxisomal Biogenesis Disorder 4c
|
|
Heimler Syndrome, Type 2
|
|
|
| Peroxisome Biogenesis Disorder 4b |
|
PBD4B
|
Peroxisome Biogenesis Disorder, Type 4b
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
SCAR3
|
Scabd
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 3
|
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
|
|
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome
|
Spinocerebellar Ataxia With Blindness And Deafness
|
|
Autosomal Recessive Spinocerebellar Ataxia 3
|
Spinocerebellar Ataxia Autosomal Recessive 3
|
|
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
|
Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Paroxysmal Dystonia |
|
Paroxysmal Dyskinesia
|
Pxd - [Paroxysmal Dyskinesia]
|
|
|
| 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
|
|
|
| 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
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Premature Menopause |
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
|
Menopause - Premature
|
Menopause Praecox
|
|
Menopause Premature
|
Menopause, Premature
|
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
|
Premature Menopause Nos
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| 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
|
|
|
| Rhizomelic Chondrodysplasia Punctata |
|
Chondrodysplasia Punctata, Rhizomelic
|
Rcdp
|
|
Chondrodysplasia Punctata, Rhizomelic Form
|
Rcp
|
|
Chondrodysplasia Punctata Rhizomelic
|
|
|
| Amelogenesis Imperfecta |
|
Ai
|
Congenital Enamel Hypoplasia
|
|
Al - [Amelogenesis Imperfecta]
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Kohlschutter-Tonz Syndrome |
|
Amelocerebrohypohidrotic Syndrome
|
KTZS
|
|
Epilepsy And Yellow Teeth
|
Kohlschutter Tonz Syndrome
|
|
Kohlschutter Syndrome
|
Epilepsy Dementia Amelogenesis Imperfecta
|
|
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome
|
Epilepsy, Dementia, And Amelogenesis Imperfecta
|
|
Kohlschutter'S Syndrome
|
Kohlschütter-Tönz Syndrome
|
|
Kohlschuetter-Toenz Syndrome
|
Presenile Dementia
|
|
Dementia
|
|
|
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
|
| 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
|
|
|
| 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
|
|
|
| Open-Angle Glaucoma |
|
Glaucoma Simplex
|
Pigmentary Glaucoma
|
|
Wide-Angle Glaucoma
|
Glaucoma, Open-Angle
|
|
Open Angle Glaucoma
|
Glaucoma Open-Angle
|
|
Chronic Simple Glaucoma
|
Coag - [Chronic Open-Angle Glaucoma]
|
|
Csg - [Chronic Simple Glaucoma]
|
Poag - [Primary Open-Angle Glaucoma]
|
|
Oag - [Open-Angle Glaucoma]
|
Chronic Glaucoma
|
|
Chronic Open Angle Glaucoma
|
Simple Glaucoma
|
|
Chronic Noncongestive Glaucoma
|
Ltg - [Low Tension Glaucoma]
|
|
Noncongestive Glaucoma
|
Nonobstructive Glaucoma
|
|
Normal Pressure Glaucoma
|
Primary Low Tension Glaucoma
|
|
Low-Tension Glaucoma
|
Residual Stage Low Tension Glaucoma
|
|
Open Cleft Glaucoma
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| 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
|
|
|
| Leukodystrophy |
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| Usher Syndrome |
|
Deafness-Retinitis Pigmentosa Syndrome
|
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
|
|
Graefe-Usher Syndrome
|
Hallgren Syndrome
|
|
Usher'S Syndrome
|
Retinitis Pigmentosa-Deafness Syndrome
|
|
Retinitis Pigmentosa-Hearing Loss Syndrome
|
Ush
|
|
Usher Syndromes
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
