| 疾病名称 |
别名 |
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
SPG42
|
Hereditary Spastic Paraplegia 42
|
|
Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
|
Paraplegia, Spastic, Type 42, Autosomal Dominant
|
|
|
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome
|
CCHLND
|
|
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome
|
Huppke-Brendel Syndrome
|
|
Lethal Neurodegenerative Disorder Due To Copper Transport Defect
|
Cataracts, Congenital, Hearing Loss, And Neurodegeneration
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Hypothyroidism |
|
Thyroid Diseases
|
Thyroid Disease
|
|
Thyroid Deficiency
|
Thyroid Insufficiency
|
|
Dysfunction Thyroid
|
Thyroid Dysfunction
|
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
PEOA1
|
Autosomal Dominant Progressive External Ophthalmoplegia 1
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1
|
Chronic Progressive External Ophthalmoplegia
|
|
Progressive External Ophthalmoplegia, Autosomal Dominant 1
|
Cpeo
|
|
Graefe Disease
|
Mitochondrial Ocular Myopathy
|
|
Ocular Myopathy Of Von Graefe-Fuchs
|
Progressive External Ophthalmoplegia Autosomal Dominant
|
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1
|
Kearns-Sayre Syndrome
|
|
|
| Spastic Paraplegia 19, Autosomal Dominant |
|
SPG19
|
Hereditary Spastic Paraplegia 19
|
|
Autosomal Dominant Spastic Paraplegia Type 19
|
Autosomal Dominant Spastic Paraplegia 19
|
|
Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
|
|
| Spastic Paraplegia 26, Autosomal Recessive |
|
SPG26
|
Hereditary Spastic Paraplegia 26
|
|
Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
|
Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 26
|
|
|
| Spastic Paraplegia 44, Autosomal Recessive |
|
SPG44
|
Hereditary Spastic Paraplegia 44
|
|
Autosomal Recessive Spastic Paraplegia 44
|
Autosomal Recessive Spastic Paraplegia Type 44
|
|
Paraplegia, Spastic, Type 44, Autosomal Recessive
|
|
|
| Spastic Paraplegia 53, Autosomal Recessive |
|
SPG53
|
Hereditary Spastic Paraplegia 53
|
|
Autosomal Recessive Spastic Paraplegia Type 53
|
Autosomal Recessive Spastic Paraplegia 53
|
|
Paraplegia, Spastic, Type 53, Autosomal Recessive
|
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Mednik Syndrome
|
Erythrokeratodermia Variabilis 3
|
|
MEDNIK
|
Ekv3
|
|
Erythrokeratodermia Variabilis, Kamouraska Type
|
Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
|
|
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
|
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
|
Erythrokeratodermia Variabilis Kamouraska Type
|
|
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| Spastic Paraplegia 34, X-Linked |
|
SPG34
|
Hereditary Spastic Paraplegia 34
|
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
SCAR10
|
Autosomal Recessive Spinocerebellar Ataxia 10
|
|
Adult-Onset Autosomal Recessive Cerebellar Ataxia
|
Autosomal Recessive Spinocerebellar Ataxia Type 10
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 10
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 10
|
|
|
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
SMAX3
|
Dsmax
|
|
X-Linked Distal Spinal Muscular Atrophy Type 3
|
X-Linked Distal Spinal Muscular Atrophy 3
|
|
Atp7a-Related Distal Motor Neuropathy
|
X-Linked Dhmn3
|
|
X-Linked Distal Hereditary Motor Neuropathy Type 3
|
X-Linked Dsma3
|
|
Spinal Muscular Atrophy, Distal, X-Linked Recessive
|
X-Linked Recessive Distal Spinal Muscular Atrophy
|
|
Distal Spinal Muscular Atrophy, X-Linked, 3
|
DSMAX3
|
|
Spinal Muscular Atrophy Distal X-Linked Recessive
|
Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
|
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
SPG13
|
Hereditary Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia Type 13
|
Spastic Paraplegia-13
|
|
Paraplegia, Spastic, Type 13
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
| Menkes Disease |
|
Copper Transport Disease
|
Menkes Syndrome
|
|
MNK
|
Kinky Hair Disease
|
|
Steely Hair Disease
|
Menkes Kinky-Hair Syndrome
|
|
Mk
|
Steely Hair Syndrome
|
|
Menkea Syndrome
|
Md
|
|
Menkes Kinky Hair Syndrome
|
Hypocupremia, Congenital
|
|
Kinky Hair Syndrome
|
X-Linked Copper Deficiency
|
|
Menkes Kinky Hair Disease
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| 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
|
|
|
| Spastic Ataxia |
|
|
