| 疾病名称 |
别名 |
|
| Interstitial Lung And Liver Disease |
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Severe Early-Onset Pulmonary Alveolar Proteinosis Due To Mars Deficiency
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ILLD
|
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Pulmonary Alveolar Proteinosis, Reunion Island
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Infantile Liver Failure Syndrome 2
|
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Infantile Liver Failure Syndrome 2, Formerly
|
Ilfs2, Formerly
|
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Hereditary Pulmonary Alveolar Proteinosis With Hepatic Involvement
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Pap, Reunion Island Type
|
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Pulmonary Alveolar Proteinosis, Reunion Island Type
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Ilfs2
|
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Lung And Liver Disease, Interstitial
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2u |
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CMT2U
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Charcot-Marie-Tooth Disease Axonal Type 2u
|
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Charcot-Marie-Tooth Neuropathy, Type 2u
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
|
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Charcot-Marie-Tooth Neuropathy Type 2u
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
|
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Charcot-Marie-Tooth Disease 2u
|
|
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| Trichothiodystrophy 9, Nonphotosensitive |
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TTD9
|
Trichothiodystrophy 9, Non-Photosensitive
|
|
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| Pulmonary Alveolar Proteinosis |
|
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| Autosomal Recessive Spastic Paraplegia Type 70 |
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
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CMT2S
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CMT2Y
|
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
|
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
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Charcot-Marie-Tooth Disease, Type 2e
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Hereditary Motor And Sensory Neuropathy Type 2
|
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
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Charcot-Marie-Tooth Neuropathy, Type 2y
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Charcot-Marie-Tooth Disease, Type 2y
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Neuropathy Type 2e
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
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Cmt2 Due To Vcp Mutation
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Charcot-Marie-Tooth Disease Type 2s
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
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Cmt2
|
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Charcot-Marie-Tooth Neuropathy, Type 2e
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Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
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Hereditary Motor And Sensory Neuropathy Okinawa Type
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Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
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Charcot-Marie-Tooth Neuropathy Type 2y
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Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
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Charcot-Marie-Tooth Neuropathy Type 2s
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Charcot-Marie-Tooth Type 2
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
|
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
|
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
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Charcot-Marie-Tooth Disease 2y
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Charcot-Marie-Tooth Disease, Type 2
|
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Hereditary Motor And Sensory-Neuropathy Type Ii
|
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| Trichothiodystrophy |
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Ttd
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Amish Brittle Hair Syndrome
|
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Bids Syndrome
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Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
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Ibids
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Pibids
|
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Trichothiodystrophy Syndromes
|
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| Infantile Liver Failure Syndrome 1 |
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ILFS1
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Acute Infantile Liver Failure-Multisystemic Involvement Syndrome
|
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Liver Failure Syndrome, Infantile, Type 1
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Liver Failure
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2w |
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CMT2W
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w
|
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Charcot-Marie-Tooth Neuropathy, Type 2w
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w
|
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Charcot-Marie-Tooth Disease, Axonal Type 2w
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w
|
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Charcot-Marie-Tooth Neuropathy Type 2w
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation
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Charcot-Marie-Tooth Disease 2w
|
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
|
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Hereditary Motor And Sensory Neuropathy
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Pma
|
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
|
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
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|
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| Spastic Ataxia 3 |
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
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Charcot-Marie-Tooth Disease Type 2d
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CMT2D
|
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Charcot-Marie-Tooth Disease, Type 2d
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
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Charcot-Marie-Tooth Disease Neuronal Type 2d
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Charcot-Marie-Tooth Neuropathy Type 2d
|
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Charcot-Marie-Tooth Disease, Neuronal, Type 2d
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Charcot-Marie-Tooth Neuropathy, Type 2d
|
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Charcot-Marie-Tooth Disease 2d
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Charcot-Marie-Tooth Disease Axonal Type 2d
|
|
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| Tooth Disease |
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Tooth Diseases
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Teeth Disease
|
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Tooth Disorders
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
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Charcot-Marie-Tooth Disease Axonal Type 2n
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CMT2N
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
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Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Disease 2n
|
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
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Charcot-Marie-Tooth Disease, Type 2n
|
|
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| Usher Syndrome, Type Iiib |
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Usher Syndrome Type 3b
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USH3B
|
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Usher Syndrome Type Iiib
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Usher Syndrome 3b
|
|
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| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
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CMTDIC
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Charcot-Marie-Tooth Disease Dominant Intermediate C
|
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Di-Cmtc
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Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
|
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Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
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Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
|
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Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C
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Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
|
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| Spastic Ataxia 2 |
|
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| Infantile Liver Failure Syndrome |
|
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| Liver Disease |
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Liver Failure
|
Liver Diseases
|
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Abnormality Of The Liver
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Liver Dysfunction
|
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Disorder Of Liver
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Hepatic Disorder
|
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Hepatic Disease
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Disease Of Bilirubin Metabolism
|
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Disorder Of Bilirubin Metabolism
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Liver Decompensation
|
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Liver Function Failure
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Hepatic Failure Nos
|
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Liver Failure Nos
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End Stage Liver Disease
|
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Decompensated Liver Failure
|
Decompensation Of Liver Function
|
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Hepatic Decompensation
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Hepatic Insufficiency
|
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Liver Cell Necrosis With Hepatic Failure
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Liver Insufficiency
|
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Decompensated Liver Disease
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End Stage Liver Failure
|
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Liver Necrosis With Hepatic Failure
|
|
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| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Charcot-Marie-Tooth Disease Recessive Intermediate B
|
CMTRIB
|
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Ri-Cmtb
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, B
|
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Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
|
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Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
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Ri-Cmt Type B
|
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Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
|
|
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| Aminoaciduria |
|
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| Charcot-Marie-Tooth Disease Intermediate Type |
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Intermediate Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Disease Dominant Intermediate
|
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Charcot-Marie-Tooth Disease Recessive Intermediate
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Intermediate Cmt
|
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Intermediate Hereditary Motor And Sensory Neuropathy
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Charcot-Marie-Tooth Disease, Intermediate Type
|
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Charcot-Marie-Tooth, Intermediate
|
|
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| Interstitial Lung Disease |
|
Ild
|
Lung Diseases, Interstitial
|
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Lung Diseases Interstitial
|
Interstitial Lung Diseases
|
|
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| Mehmo Syndrome |
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Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity
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MEHMO
|
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Mrxs20
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Mrxs25
|
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X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome
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Mrxsbrk
|
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Mental Retardation, X-Linked, Syndromic 20
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Mental Retardation, X-Linked, Syndromic 25
|
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Mental Retardation, X-Linked, Syndromic, Borck Type
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Syndromic X-Linked Mental Retardation 20
|
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Syndromic X-Linked Mental Retardation 25
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Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity
|
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X-Linked Mehmo Syndrome
|
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| Motor Neuron Disease |
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Anterior Horn Cell Disease
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Motor Neuron Diseases
|
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Mnd - [Motor Neurone Disease]
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Lou Gehrig Disease
|
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Creeping Palsy
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Creeping Paralysis
|
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Bulbar Motor Neuron Disease
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Bulbar Syndrome
|
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Anterior Horn Cell Disorder
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Hereditary Motor Neuron Disease
|
|
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| Lactic Acidosis |
|
Acidosis, Lactic
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Acidosis Lactic
|
|
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| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
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Autosomal Dominant Distal Hereditary Motor Neuropathy
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Autosomal Dominant Dhmn
|
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Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
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| Arthrogryposis, Distal, Type 1a |
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Distal Arthrogryposis Type 1
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Digitotalar Dysmorphism
|
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DA1A
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Da1
|
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Amcd1
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Arthrogryposis, Distal, Type 2b4
|
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Distal Arthrogryposis Type 1a
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Arthrogryposis, Distal, Type 1
|
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Arthrogryposis Multiplex Congenita Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal Type 1
|
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Arthrogryposis Multiplex Congenita, Distal, Type I
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Distal Arthrogryposis Type 1b
|
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Arthrogryposis, Distal, 1a
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Amc
|
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Arthrogryposis Multiplex Congenita
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Arthrogryposis, Distal, 2b4
|
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DA2B4
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Arthrogryposis Multiplex Congenita, Distal, Type 1
|
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Arthrogryposis
|
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
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Young Adult-Onset Distal Hereditary Motor Neuropathy
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Neuronopathy, Distal Hereditary Motor, Type V
|
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Distal Hereditary Motor Neuronopathy Type 5
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Dhmn5
|
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Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
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Hmn5
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Dhmn5a
|
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Dhmn Va
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Dsmava
|
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
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Distal Hmn V
|
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
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Young Adult-Onset Dhmn
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Dhmn-V
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Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
|
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Hmn 5a
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Neuropathy, Distal Hereditary Motor, Type Va
|
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Spinal Muscular Atrophy, Distal, Type Va
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Spinal Muscular Atrophy, Distal, Type V
|
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Distal Spinal Muscular Atrophy Type V
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Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
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Distal Hereditary Motor Neuronopathy Type 5a
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Distal Hmn Va
|
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Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
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Distal Hereditary Motor Neuronopathy, Type V
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Distal Spinal Muscular Atrophy, Type V
|
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Spinal Muscular Atrophy, Distal Type V
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Distal Hereditary Motor Neuropathy Type 5
|
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Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
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Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
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Dsma-V
|
Hmn Va
|
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Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
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Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
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Neuropathy, Motor, Distal, Hereditary, Type Va
|
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| Sleeping Sickness |
|
African Trypanosomiasis
|
African Sleeping Sickness
|
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Trypanosomiasis, Human East-African
|
Trypanosomiasis, East African
|
|
Trypanosomiasis African
|
Trypanosomiasis, African
|
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Human African Trypanosomiasis
|
|
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| Microcephaly |
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Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
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Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
|
