| 疾病名称 |
别名 |
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| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Sesame Syndrome
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East Syndrome
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SESAMES
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Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
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Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
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Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
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Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
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Epilepsy Ataxia Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Enlarged Vestibular Aqueduct
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DFNB4
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Neurosensory Nonsyndromic Recessive Deafness 4
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Enlarged Vestibular Aqueduct Syndrome
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Nsrd4
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Autosomal Recessive Nonsyndromic Deafness 4
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Dilated Vestibular Aqueduct
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Dva
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Enlarged Vestibular Aqueduct, Digenic
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Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
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Large Vestibular Aqueduct Syndrome
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Deafness, Autosomal Recessive, 4
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Deafness Neurosensory Autosomal Recessive 4
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Eva
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
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Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
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| Pendred Syndrome |
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Goiter-Deafness Syndrome
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Deafness With Goiter
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PDS
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Thyroid Dyshormonogenesis 2b
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Tdh2b
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Autosomal Recessive Sensorineural Hearing Impairment And Goiter
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Pendred'S Syndrome
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Thyroid Hormonogenesis, Genetic Defect In, 2b
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Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
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Congenital Hypothyroidism Due To Dyshormonogenesis 2b
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Genetic Defect In Thyroid Hormonogenesis 2b
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Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
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Goiter-Hearing Loss Syndrome
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Goitre-Deafness Syndrome
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Goitre Deafness
|
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| Rare Renal Tubular Disease |
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| Spastic Diplegia |
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Diplegic Infantile Cerebral Palsy
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Little'S Disease
|
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Cerebral Palsy
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Cerebral Spastic Infantile Paralysis
|
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Infantile Diplegic Cerebral Palsy
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Infantile Spastic Cerebral Palsy
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Littles Disease
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Spastic Cerebral Palsy
|
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| Aceruloplasminemia |
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Cerebellar Ataxia
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Hypoceruloplasminemia
|
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Hemosiderosis, Systemic, Due To Aceruloplasminemia
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Familial Apoceruloplasmin Deficiency
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Hereditary Ceruloplasmin Deficiency
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Deficiency Of Ferroxidase
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Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
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ACERULOP
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| Microcephaly |
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Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
|
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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| Developmental And Epileptic Encephalopathy 35 |
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DEE35
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Epileptic Encephalopathy, Early Infantile, 35
|
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Eiee35
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Developmental And Epileptic Encephalopathy, 35
|
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Early Infantile Epileptic Encephalopathy 35
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Itpa-Related Encephalopathy
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Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement
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Martsolf-Like Syndrome
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| Hypokalemia |
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Potassium Deficiency
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Potassium Deficiency Disorder
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Hypopotassemia
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Potassium
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Potassium [K] Deficiency
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Hypokalaemic Syndrome
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Hypopotassaemia
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Hypopotassaemia Syndrome
|
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Hypokalaemic
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Potassium Depletion
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| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
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Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
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Mlc
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Van Der Knaap Disease
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Lvm
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Leukoencephalopathy With Swelling And Cysts
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Megalencephaly-Cystic Leukodystrophy
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Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome
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Infantile Leukoencephalopathy And Megalencephaly
|
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Leukoencephalopathy With Swelling And A Discrepantly Mild Course
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Vacuolating Leukoencephalopathy
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Megalencephalic Leukodystrophy
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Megalencephaly-Cystic Leukodystrophy Syndrome
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Van Der Knaap Syndrome
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Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
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| Epilepsy |
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Epilepsy Syndrome
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Epileptic Syndrome
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Epilepsies
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Symptomatic Epilepsies
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Post Traumatic Epilepsy
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Traumatic Epilepsy
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Traumatic Epileptic
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Epilepsy Due To Hippocampal Sclerosis
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Epilepsy With Ammon'S Horn Sclerosis
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Epilepsy Due To Cortical Dysplasia
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Epilepsy Due To Neuronal Migration Disorders
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| Temporal Lobe Epilepsy |
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Epilepsy, Temporal Lobe
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Epilepsy Temporal Lobe
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| Vestibular Disease |
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Vestibular Diseases
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Vertigo, Vestibular Disorder
|
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Vestibular Disorder
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Diseases Of Inner Ear
|
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| Vitreoretinal Degeneration, Snowflake Type |
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Snowflake Vitreoretinal Degeneration
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SVD
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Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
|
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| Bartter Disease |
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Bartter Syndrome
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Bartter'S Syndrome
|
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Aldosteronism With Hyperplasia Of The Adrenal Cortex
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Hypokalemic Alkalosis With Hypercalciuria
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Potassium Wasting
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Juxtaglomerular Hyperplasia With Secondary Aldosteronism
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Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
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Salt-Losing Tubular Disorder, Henle'S Loop Type
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Salt-Wasting Tubulopathy, Henle'S Loop Type
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Bartters Syndrome
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| Gitelman Syndrome |
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Familial Hypokalemia-Hypomagnesemia
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Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
|
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Potassium And Magnesium Depletion
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GTLMNS
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Gitelman'S Syndrome
|
Gs
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Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria
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Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria
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Bartter Syndrome Gitelman Variant
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Bartter Syndrome Hypocalciuric Variant
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Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
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| Deafness, Autosomal Dominant 7 |
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DFNA7
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Autosomal Dominant Nonsyndromic Deafness 7
|
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Autosomal Dominant Deafness 7
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Deafness, Autosomal Dominant, 7
|
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Deafness, Autosomal Dominant, Type 7
|
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| Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
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Van Der Knaap Disease
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Leukoencephalopathy With Swelling And Cysts
|
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MLC1
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Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
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Lvm
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Vl
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Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1
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Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
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Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
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| Hypomagnesemia 1, Intestinal |
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Intestinal Hypomagnesemia 1
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HOMG1
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Hypomagnesemia With Secondary Hypocalcemia
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Hsh
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Hypomagnesemic Tetany
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Intestinal Hypomagnesemia With Secondary Hypocalcemia
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Homg
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Hypomagnesemia Caused By Selective Magnesium Malabsorption
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Hypomagnesemia Intestinal Type 1
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Primary Hypomagnesemia With Secondary Hypocalcemia
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Phsh
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Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
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Familial Primary Hypomagnesemia With Hypocalcuria
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Hypomagnesemia 1
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Hypomagnesmic Tetany
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| Rett Syndrome |
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Atypical Rett Syndrome
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RTT
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Rett Disorder
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Rts
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
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Rett Syndrome, Preserved Speech Variant
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Rett Syndrome, Atypical
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Rett'S Disorder
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Rett Syndrome Variant
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Rett'S Syndrome
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Atypical Rtt
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
|
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| Auditory System Disease |
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Ear Diseases
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Ear And Mastoid Disease
|
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| Alexander Disease |
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Alexander'S Disease
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ALXDRD
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Alexanders Leukodystrophy
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Axd
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Demyelinogenic Leukodystrophy
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Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia
|
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Alx
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Dysmyelinogenic Leukodystrophy
|
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Fibrinoid Degeneration Of Astrocytes
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Leukodystrophy With Rosenthal Fibers
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Alexander Disease Type Ii
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Axd Type Ii
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Alexander Disease Type I
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Axd Type I
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Alexanders Disease
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Alexander'S Leukodystrophy
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| Inner Ear Disease |
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Labyrinthine Dysfunction
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Diseases Of Inner Ear
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Labyrinthine Disease
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Abnormality Of The Inner Ear
|
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Labyrinth Diseases
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Labyrinthine Disorder
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Nonfunctioning Labyrinth
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Labyrinthine Loss Of Function
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Labyrinthine Syndrome
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Labyrinthine Disorder Nos
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| Deafness, X-Linked 2 |
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Progressive Deafness With Stapes Fixation
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DFNX2
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Dfn3
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Nance Deafness
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Perilymphatic Gusher-Deafness Syndrome
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Stapedo-Vestibular Ankylosis
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Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
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X-Linked Deafness 2
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X-Linked Mixed Conductive And Neurosensory Deafness
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X-Linked Mixed Conductive And Sensorineural Deafness
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Deafness 3 Conductive With Stapes Fixation
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Deafness Conductive With Stapes Fixation
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Deafness Mixed With Perilymphatic Gusher
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Thies-Reis Syndrome
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Deafness, Conductive, With Stapes Fixation
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Deafness 3, Conductive, With Stapes Fixation
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Deafness, Mixed, With Perilymphatic Gusher
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Conductive Deafness 3 With Stapes Fixation
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Conductive Deafness With Stapes Fixation
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Mixed Deafness With Perilymphatic Gusher
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X-Linked Deafness Type 2
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X-Linked Mixed Conductive And Neurosensory Hearing Loss
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X-Linked Mixed Conductive And Sensorineural Hearing Loss
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X-Linked Sensorineural Deafness
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X-Linked Stapes Gusher Syndrome
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Deafness Mixed With Perilymphatic Gusher, X-Linked
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Dfn 3 Nonsyndromic Hearing Loss And Deafness
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Gusher Syndrome
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Thies Reis Syndrome
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Progressive Hearing Loss With Stapes Fixation
|
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Deafness, X-Linked, 2
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Deafness Mixed With Perilymph Gusher X-Linked
|
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Deafness, X-Linked, Type 2
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Progressive Hearing Loss Stapes Fixation
|
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| Autoimmune Disease Of Peripheral Nervous System |
|
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| Peripheral Vertigo |
|
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| Renal Tubular Transport Disease |
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Renal Tubular Transport, Inborn Errors
|
Inborn Renal Tubular Transport Disorder
|
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| Retinal Degeneration |
|
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| Jervell And Lange-Nielsen Syndrome 1 |
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Jervell And Lange-Nielsen Syndrome
|
Jervell-Lange Nielsen Syndrome
|
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Prolonged Qt Interval In Ekg And Sudden Death
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Cardioauditory Syndrome Of Jervell And Lange-Nielsen
|
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Surdo-Cardiac Syndrome
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JLNS1
|
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Deafness, Congenital, And Functional Heart Disease
|
Jlns
|
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Long Qt Interval-Deafness Syndrome
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Jervell And Lange-Nielson Syndrome
|
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Jervell Lange-Nielsen Syndrome
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Autosomal Recessive Long Qt Syndrome
|
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Cardio-Auditory-Syncope Syndrome
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Long Qt Interval-Hearing Loss Syndrome
|
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Congenital Deafness And Functional Heart Disease
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Long Qt Interval-Deafness
|
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| Epilepsy, Idiopathic Generalized |
|
Idiopathic Generalized Epilepsy
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Generalised Epilepsy
|
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Epilepsy, Generalized
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EIG
|
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Ige
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 1
|
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Epilepsy, Idiopathic Generalized 1
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Epilepsy, Idiopathic Generalized, Susceptibility To
|
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Epilepsy, Idiopathic, Generalized
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Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
|
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| Autism |
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Autistic Disorder
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Autism Susceptibility 1
|
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Childhood Autism
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Autistic Disorder Of Childhood Onset
|
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Infantile Autism
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Kanner'S Syndrome
|
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Autistic
|
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| Optic Nerve Disease |
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Optic Neuropathy
|
Disorder Of The Second Nerve
|
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Optic Nerve Disorder
|
Optic Nerve
|
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
|
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Neuropathy, Optic
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Disorder Of The Optic Nerve
|
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| Epilepsy, Myoclonic Juvenile |
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Juvenile Myoclonic Epilepsy
|
Janz Syndrome
|
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Jme
|
Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
|
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EJM
|
Myoclonic Epilepsy, Juvenile
|
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Petit Mal, Impulsive
|
Myoclonic Epilepsy, Juvenile 1
|
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Myoclonic Epilepsy, Juvenile, 1
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Adolescent Myoclonic Epilepsy
|
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Juvenile Myoclonus Epilepsy
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Juvenile Myoclonic Epilepsy 1
|
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EJM1
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Petit Mal Impulsive
|
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Susceptibility To Juvenile Myoclonic Epilepsy 1
|
Myoclonic Epilepsy Juvenile
|
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Epilepsy, Myoclonic, Juvenile
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Myoclonic Epilepsy Of Janz
|
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Jme - [Juvenile Myoclonic Epilepsy]
|
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| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
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Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
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Charcot Disease
|
ALS1
|
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Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
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Lou Gehrig'S Disease
|
Mnd
|
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Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
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Amyotrophic Lateral Sclerosis 1, Familial
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Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
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Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
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Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
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Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
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Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
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Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
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Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
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| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
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Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
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Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
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