| 疾病名称 |
别名 |
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemic Periodic Paralysis
|
Hokpp
|
|
Hypopp
|
Westphall Disease
|
|
HOKPP1
|
Familial Hypokalemic Periodic Paralysis
|
|
Familial Periodic Paralysis
|
Westphal Disease
|
|
Hypokalemic Periodic Paralysis Type 1
|
Hypokalemic Familial Periodic Paralysis
|
|
Periodic Hypokalemic Paralysis
|
Periodic Paralysis I
|
|
Hypokpp
|
Primary Hypokalemic Periodic Paralysis
|
|
Periodic Paralysis Hypokalemic 1
|
Paralysis, Hypokalemic, Periodic
|
|
Paralysis, Hypokalemic, Periodic, Type 1
|
|
|
| Malignant Hyperthermia 5 |
|
Malignant Hyperthermia, Susceptibility To, 5
|
MHS5
|
|
Malignant Hyperthermia Susceptibility 5
|
Malignant Hyperthermia Susceptibility Type 5
|
|
Hyperthermia, Malignant, Susceptibility, Type 5
|
|
|
| Thyrotoxic Periodic Paralysis 1 |
|
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
|
TTPP1
|
|
Thyrotoxic Hypokalemic Periodic Paralysis
|
Tpp
|
|
|
| Periodic Paralysis With Transient Compartment-Like Syndrome |
|
|
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxic Hypokalemic Periodic Paralysis
|
|
|
| Periodic Paralysis |
|
Westphal Disease
|
Periodic Myotonia
|
|
Myoplegic Dystrophy
|
Familial Recurrent Paralysis
|
|
Familial Myoplegia
|
Cavare Disease
|
|
Cavarre Disease
|
Familial Paralysis
|
|
Familial Periodic Paralysis
|
Myotonic Periodic Paralysis
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| Malignant Hyperthermia Of Anesthesia |
|
Hyperthermia Of Anesthesia
|
|
|
| Malignant Hyperthermia Susceptibility |
|
Malignant Hyperpyrexia
|
Hyperthermia, Malignant, Susceptibility
|
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
|
| Central Core Disease Of Muscle |
|
Central Core Disease
|
Central Core Myopathy
|
|
CCD
|
Cco
|
|
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
|
Myopathy, Central Core
|
|
Shy-Magee Syndrome
|
Muscle Core Disease
|
|
Muscular Central Core Disease
|
Myopathy, Central Fibrillar
|
|
Shy'S Disease
|
Moderate Multiminicore Disease With Hand Involvement
|
|
|
| Hypokalemia |
|
Potassium Deficiency
|
Potassium Deficiency Disorder
|
|
Hypopotassemia
|
Potassium
|
|
Potassium [K] Deficiency
|
Hypokalaemic Syndrome
|
|
Hypopotassaemia
|
Hypopotassaemia Syndrome
|
|
Hypokalaemic
|
Potassium Depletion
|
|
|
| Familial Periodic Paralysis |
|
Genetic Periodic Paralysis
|
Paralyses, Familial Periodic
|
|
|
| Hyperkalemic Periodic Paralysis |
|
HYPP
|
Gamstorp Disease
|
|
Gamstorp Episodic Adynamy
|
Adynamia Episodica Hereditaria With Or Without Myotonia
|
|
Familial Hyperkalemic Periodic Paralysis
|
Hyperkpp
|
|
Hyperpp
|
Adynamia Episodica Hereditaria
|
|
Primary Hyperkalemic Periodic Paralysis
|
Hyperkalemic Periodic Paralysis, Type 2
|
|
Sodium Channel Muscle Disease
|
Familial Hyperpp
|
|
Hyperkalemic Pp
|
Primary Hyperpp
|
|
Periodic Paralysis Hyperkalemic
|
Periodic Paralysis Normokalemic
|
|
NKPP
|
Periodic Paralysis Eukalemic
|
|
Paralysis, Hyperkalemic Periodic
|
Paralysis, Periodic, Hyperkalemic
|
|
Potassium Aggravated Myotonia
|
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
Paramyotonia Congenita
|
PMC
|
|
Paralysis Periodica Paramyotonica
|
Eulenburg Disease
|
|
Myotonia Congenita Intermittens
|
Von Eulenburg Paramyotonia Congenita
|
|
Paralysis Periodica Paramyotonia
|
Von Eulenberg'S Disease
|
|
Paramyotonia Congenita Without Cold Paralysis
|
Eulenburg Syndrome
|
|
Paramyotonia
|
|
|
| King-Denborough Syndrome |
|
King Denborough Syndrome
|
King Syndrome
|
|
Kousseff Nichols Syndrome
|
KDS
|
|
Noonan Like Contracture Myopathy Hyperpyrexia
|
Anesthetic-Induced Malignant Hyperpyrexia In Children
|
|
Koussef-Nichols Syndrome
|
|
|
| Myopathy, Congenital, Bailey-Bloch |
|
Native American Myopathy
|
Nam
|
|
MYPBB
|
Myopathy, Congenital, Baily-Bloch
|
|
Anti-Hmg-Coa Myopathy
|
Anti-Srp Myopathy
|
|
Autoimmune Necrotizing Myositis
|
Imnm
|
|
Immune Myopathy With Myocyte Necrosis
|
Immune-Mediated Necrotizing Myopathy
|
|
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
|
Necrotizing Autoimmune Myopathy
|
|
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
|
Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
|
|
|
| Multiminicore Disease |
|
Multiminicore Myopathy
|
Mmd
|
|
Minicore Disease
|
Minicore Myopathy
|
|
Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
|
Multi-Minicore Disease
|
Multicore Disease
|
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
|
| Myotonia Congenita |
|
Congenital Myotonia, Autosomal Dominant Form
|
Congenital Myotonia
|
|
Thomsen And Becker Disease
|
Thomsen Disease
|
|
Thomsen'S Disease
|
Generalized Myotonia Of Thomsen
|
|
Congenital Myotonic Muscular Dystrophy
|
Myotonia Congenita Nos
|
|
|
| Timothy Syndrome |
|
Long Qt Syndrome With Syndactyly
|
TS
|
|
Lqt8
|
Long Qt Syndrome 8
|
|
Long Qt Syndrome Type 8
|
Long Qt Syndrome-Syndactyly Syndrome
|
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Andersen Syndrome
|
Andersen-Tawil Syndrome
|
|
LQT7
|
Long Qt Syndrome 7
|
|
Ats
|
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
|
|
Long Qt Syndrome Type 7
|
Andersen Tawil Syndrome
|
|
Potassium-Sensitive Cardiodysrhythmic Type
|
Lqts Type 7
|
|
Long Qt Syndrome-7
|
|
|
| Brugada Syndrome 3 |
|
BRGDA3
|
Brugada Syndrome, Type 3
|
|
|
| Episodic Ataxia, Type 2 |
|
Episodic Ataxia Type 2
|
EA2
|
|
Apca
|
Capa
|
|
Cerebellopathy, Hereditary Paroxysmal
|
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
|
|
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
|
Episodic Ataxia With Nystagmus
|
|
Ataxia, Episodic, With Nystagmus
|
Episodic Ataxia, Nystagmus-Associated
|
|
Ataxia, Familial Paroxysmal
|
Acetazolamide-Responsive Episodic Ataxia Syndrome
|
|
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia
|
Ataxia, Familial, Paroxysmal
|
|
Nystagmus-Associated Episodic Ataxia
|
Familial Paroxysmal Ataxia
|
|
Episodic Ataxia 2
|
Ea-2
|
|
Episodic Ataxia Nystagmus-Associated
|
Hereditary Paroxysmal Cerebellopathy
|
|
Ataxia, Episodic, Type 2
|
|
|
| Metal Metabolism Disorder |
|
Metal Metabolism, Inborn Errors
|
Inborn Metal Metabolism Disorder
|
|
|
| Congenital Structural Myopathy |
|
|
| Familial Hemiplegic Migraine |
|
Hemiplegic Migraine, Familial
|
Hemiplegic-Ophthalmoplegic Migraine
|
|
Fhm
|
Hemiplegic Migraine Familial
|
|
|
| Graves Disease 1 |
|
Thyrotoxicosis
|
Graves Disease, Susceptibility To, 1
|
|
GRD1
|
Grd
|
|
Hyperthyroidism, Autoimmune
|
Hyperthyroidism
|
|
Hyperactive Thyroid Gland
|
Overactive Thyroid
|
|
Toxic Diffuse Goitre
|
Toxic Primary Thyroid Hyperplasia
|
|
Stokes Disease
|
Thyrotoxicosis With Goitre
|
|
Thyrotoxicosis Struma
|
Graves Disease
|
|
Goitre With Hyperthyroidism
|
Basedow Disease
|
|
Exophthalmic Goitre
|
Exophthalmic Struma
|
|
Flajani Disease
|
Graves Disease With Exophthalmos
|
|
Hyperthyroid Goitre
|
Hyperthyroidism Struma
|
|
Thyroid Exophthalmos
|
Malignant Exophthalmos
|
|
Parry Disease
|
Toxic Diffuse Goitre With Exophthalmos
|
|
Toxic Goitre
|
Toxic Goitre Nos
|
|
Thyrotoxicosis Due To Uninodular Goitre
|
Toxic Thyroid Nodule
|
|
Toxic Uninodular Goitre
|
Uninodular Toxic Struma
|
|
Uninodular Toxic Struma With Hyperthyroidism
|
Thyrotoxicosis Due To Single Thyroid Nodule
|
|
Toxic Uninodular Goitre With Hyperthyroidism
|
Hyperthyroidism With Thyroid Nodule
|
|
Thyrotoxicosis With Toxic Uninodular Goitre
|
Uninodular Goitre In Hyperthyroidism
|
|
Uninodular Goitre In Thyrotoxicosis
|
Toxic Multinodular Goitre
|
|
Multinodular Goitre With Thyrotoxicosis
|
Thyrotoxicosis Nodular Goitre
|
|
Nodular Goitre With Thyrotoxicosis
|
Adenomatous Goitre With Hyperthyroidism
|
|
Multinodular Goitre With Hyperthyroidism
|
Nodular Goitre With Hyperthyroidism
|
|
Nodular Struma With Hyperthyroidism
|
Plummer Disease
|
|
Thyrotoxicosis Adenomatous Goitre
|
Thyrotoxicosis Adenomatous Struma
|
|
Toxic Adenomatous Goitre
|
Toxic Adenomatous Struma
|
|
Toxic Nodular Goitre Nos
|
Toxic Struma Nodosa
|
|
Toxic Nodular Struma
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Spinocerebellar Ataxia 6 |
|
Spinocerebellar Ataxia Type 6
|
SCA6
|
|
Type 6 Spinocerebellar Ataxia
|
Spinocerebellar Ataxia-6
|
|
Ataxia, Spinocerebellar, Type 6
|
|
|
| Glycogen Storage Disease V |
|
Mcardle Disease
|
Myophosphorylase Deficiency
|
|
Glycogen Storage Disease Type V
|
Muscle Glycogen Phosphorylase Deficiency
|
|
Pygm Deficiency
|
Gsd V
|
|
Glycogen Storage Disease, Type V
|
Glycogenosis Type V
|
|
Glycogen Storage Disease Type 5
|
GSD5
|
|
Pygmy
|
Mcardle'S Disease
|
|
Mcardle Type Glycogen Storage Disease
|
Gsd Type V
|
|
Pygmy, African
|
Gsdv
|
|
Gsd 5
|
Glycogenosis 5
|
|
Mcardle Syndrome
|
Muscle Phosphorylase Deficiency
|
|
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
|
Gsd Due To Muscle Glycogen Phosphorylase Deficiency
|
|
Gsd Type 5
|
Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
|
|
Glycogenosis Type 5
|
Glycogen Storage Disease 5
|
|
Gsd-V
|
Mcardles Disease
|
|
Storage Disease, Glycogen, Type V
|
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Long Qt Syndrome |
|
Romano-Ward Syndrome
|
Long Q-T Syndrome
|
|
Lqt
|
Qt Syndrome, Long
|
|
Congenital Long Qt Syndrome
|
Familial Long Qt Syndrome
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular 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
|
|
|
| Brugada Syndrome |
|
Sudden Unexpected Nocturnal Death Syndrome
|
Sudden Unexplained Nocturnal Death Syndrome
|
|
Bangungut
|
Brugada Type Idiopathic Ventricular Fibrillation
|
|
Pokkuri Death Syndrome
|
Sunds
|
|
Idiopathic Ventricular Fibrillation, Brugada Type
|
Sudden Unexplained Death
|
|
Dream Disease
|
Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
|
|
Sudden Unexplained Death Syndrome
|
Suds
|
|
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Migraine With Or Without Aura 1 |
|
Migraine
|
Migraine With Or Without Aura, Susceptibility To, 1
|
|
Migraine Disorder
|
Migraine Variant
|
|
Migraines
|
Migraine Disorders
|
|
Mgr1
|
Mgau
|
|
Ma
|
Migraine With Or Without Aura
|
|
Classic Migraine
|
Common Migraine
|
|
Disorder, Migraine
|
Headache Migraine
|
|
Headache Migrainous
|
Migraine Headache
|
|
Migraine Syndrome
|
Headache Including Migraine
|
|
Migraine, Susceptibility To
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
