| 疾病名称 |
别名 |
|
| Spinocerebellar Ataxia 34 |
|
Erythrokeratodermia With Ataxia
|
Spinocerebellar Ataxia Type 34
|
|
SCA34
|
Erythrokeratodermia - Ataxia
|
|
Giroux Barbeau Syndrome
|
Spinocerebellar Ataxia And Erythrokeratodermia
|
|
Erythrokeratodermia Ataxia
|
|
|
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome
|
ISQMR
|
|
Congenital Ichthyosis-Intellectual Disability-Spastic Tetraplegia Syndrome
|
Elovl4-Related Neuro Ichthyosis
|
|
Ichthyosis, Spastic Quadriplegia, And Intellectual Disability
|
|
|
| Stargardt Disease 3 |
|
STGD3
|
Macular Dystrophy With Flecks, Type 3
|
|
Stargardt-Like Macular Dystrophy, Autosomal Dominant
|
Macular Dystrophy Autosomal Dominant Chromosome 6-Linked
|
|
Macular Dystrophy With Flecks Type 3
|
Stargardt-Like Macular Dystrophy
|
|
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked
|
|
|
| Stargardt Disease |
|
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
|
Fundus Flavimaculatus
|
Stargardt 1
|
|
Stargardts Disease
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Quadriplegia |
|
|
| Spastic Quadriplegia |
|
Spastic Quadriplegic Cerebral Palsy
|
Quadriplegic Infantile Cerebral Palsy
|
|
Tetraplegic Infantile Cerebral Palsy
|
Cerebral Palsy Spastic Quadriplegic
|
|
Quadriplegic Cerebral Palsy
|
Spastic Quadriplegia Cerebral Palsy
|
|
Spastic Tetraplegia Cerebral Palsy
|
Cerebral Palsy, Quadriplegic, Infantile
|
|
Cerebral Palsy With Spastic Tetraplegia
|
Congenital Spastic Quadriplegia
|
|
Spastic Tetraplegic Cerebral Palsy
|
Congenital Quadriplegia Nos
|
|
Tetraplegic Cerebral Palsy
|
|
|
| Toxic Maculopathy |
|
Toxic Maculopathy Of Retina
|
|
|
| Spastic Ataxia |
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Spastic Cerebral Palsy |
|
Palsy, Cerebral, Spastic
|
Infantile Hemiplegia Nos
|
|
Postnatal Infantile Hemiplegia Nos
|
Congenital Spastic Hemiplegia
|
|
Spastic Hemiplegic Cerebral Palsy
|
Congenital Hemiplegia Nos
|
|
Hemiplegic Cerebral Palsy
|
Hemiplegic Infantile Cerebral Palsy
|
|
|
| Retinal Degeneration |
|
|
| Macular Degeneration, Age-Related, 4 |
|
Age Related Macular Degeneration 4
|
ARMD4
|
|
Macular Degeneration, Age-Related, Type 4
|
|
|
| Cone-Rod Dystrophy 7 |
|
CORD7
|
Dystrophy, Cone-Rod, Type 7
|
|
Retinitis Pigmentosa 7
|
|
|
| Spinocerebellar Ataxia 38 |
|
Spinocerebellar Ataxia Type 38
|
SCA38
|
|
Ataxia, Spinocerebellar, Type 38
|
|
|
| 46,Xy Sex Reversal 6 |
|
SRXY6
|
46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related
|
|
46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related
|
46xy Sex Reversal 6
|
|
46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related
|
46,Xy Sex Reversal Partial Or Complete Map3k1-Related
|
|
|
| Sjogren-Larsson Syndrome |
|
Sjögren-Larsson Syndrome
|
SLS
|
|
Faldh Deficiency
|
Fatty Aldehyde Dehydrogenase Deficiency
|
|
Fatty Acid Alcohol Oxidoreductase Deficiency
|
Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
|
|
Sjogren Larsson Syndrome
|
Fatty Alcohol:Nad+ Oxidoreductase Deficiency
|
|
Sjogren-Larsson'S Syndrome
|
Fadh Deficiency
|
|
Fao Deficiency
|
Congenital Icthyosis Mental Retardation Spasticity Syndrome
|
|
Ichthyosis Oligophrenia Syndrome
|
Sjoegren-Larsson Syndrome
|
|
|
| Cowden Syndrome 5 |
|
CWS5
|
Cowden Syndrome, Type 5
|
|
|
| Retinitis Pigmentosa 19 |
|
RP19
|
Retinitis Pigmentosa-19
|
|
Retinitis Pigmentosa, Type 19
|
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythrokeratodermia Variabilis
|
Erythrokeratodermia Variabilis Et Progressiva
|
|
Greither Disease
|
Ekv
|
|
Ekvp
|
PSEK
|
|
Erythrokeratodermia Variabilis With Erythema Gyratum Repens
|
Keratosis Palmoplantaris Transgrediens Et Progrediens
|
|
Transgrediens Et Progrediens Palmoplantar Keratoderma
|
EKVP1
|
|
Erythrokeratodermia, Progressive Symmetric
|
Erythrokeratodermia Figurata, Congenital Familial, In Plaques
|
|
Keratoderma Palmoplantaris Transgrediens
|
Keratosis Extremitatum Hereditaria Progrediens
|
|
Erythrokeratodermia Variabilis, Mendes Da Costa Type
|
Progressive Symmetric Erythrokeratodermia
|
|
Erythrokeratodermia Figurata Variabilis
|
Greither'S Disease
|
|
Ekv-P
|
Erythrokeratodermia Variabilis Of Mendes Da Costa
|
|
Progressive Symmetrical Erythrokeratoderma Of Gottron
|
Progressive Diffuse Ppk
|
|
Progressive Diffuse Palmoplantar Keratoderma
|
Transgrediens Et Progrediens Ppk
|
|
Darier-Gottron Disease
|
Erythrokeratodermia Progressiva Symmetrica
|
|
Progressive Symmetric Erythrokeratodermia, Gottron Type
|
Congenital Familial Erythrokeratodermia Figurata In Plaques
|
|
Erythrokeratodermia Progressive Symmetric
|
Erythrokeratodermia Variabilis Mendes Da Costa Type
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
|
HSAN2A
|
Morvan Disease
|
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
|
Hsan Iia
|
Hsn2a
|
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
|
Hsanii
|
Congenital Sensory Neuropathy
|
|
Hsan Type Ii
|
Morvan Syndrome
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
|
Hsan2b
|
Hsan2c
|
|
Hsan2d
|
Hsn Type Ii
|
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Autosomal Recessive Spinocerebellar Ataxia 14
|
SCAR14
|
|
Sparca1
|
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
|
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
|
Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 14
|
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
|
|
Sparca
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 14
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
|
|
|
| Cone-Rod Dystrophy, X-Linked, 1 |
|
CORDX1
|
X-Linked Cone-Rod Dystrophy 1
|
|
Cod1
|
Cone Dystrophy X-Linked 1
|
|
X-Linked Cone Dystrophy 1
|
Cone-Rod Dystrophy X-Linked 1
|
|
Cone-Rod Dystrophy, X-Linked 1
|
Dystrophy, Cone-Rod, X-Linked, Type 1
|
|
Cone Dystrophy, X-Linked, 1
|
|
|
| Degeneration Of Macula And Posterior Pole |
|
Degeneration Of Macula And Posterior Pole Of Retina
|
Degeneration Of Macula Or Posterior Pole
|
|
Macular Degeneration Nos
|
Degenerative Disorder Of Macula
|
|
Drusen Macular Degeneration
|
Posterior Pole Macular Degeneration Of Eye
|
|
Macular Eye Degeneration
|
Macular Degeneration Of Retina, Unspecified
|
|
Pseudohole Degeneration Of Macula Of Retina
|
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Spastic Paraplegia 41, Autosomal Dominant |
|
SPG41
|
Hereditary Spastic Paraplegia 41
|
|
Autosomal Dominant Spastic Paraplegia Type 41
|
Autosomal Dominant Spastic Paraplegia 41
|
|
|
| Sorsby Fundus Dystrophy |
|
SFD
|
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
|
|
Sorsby'S Fundus Dystrophy
|
Macular Dystrophy, Hemorrhagic
|
|
Hemorrhagic Macular Dystrophy
|
Pseudoinflammatory Fundus Dystrophy Of Sorsby
|
|
Sorsby'S Pseudoinflammatory Macular Dystrophy
|
Sorsby Pseudoinflammatory Fundus Dystrophy
|
|
Dystrophy, Fundus, Sorsby
|
|
|
| Retinal Drusen |
|
|
| Acrokeratosis Verruciformis |
|
Acrokeratosis Verruciformis Of Hopf
|
Hopf Disease
|
|
AKV
|
Akv Of Hopf
|
|
|
| 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
|
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| Hereditary Retinal Dystrophy |
|
Hereditary Retinal Dystrophies
|
|
|
| Eye Degenerative Disease |
|
|
| Late-Onset Retinal Degeneration |
|
LORD
|
Retinal Degeneration, Late-Onset, Autosomal Dominant
|
|
Autosomal Dominant Late-Onset Retinal Degeneration
|
Pigmentary Retinopathy
|
|
Retinal Degeneration, Late-Onset
|
Retinitis Pigmentosa
|
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
