| 疾病名称 |
别名 |
|
| Hartnup Disorder |
|
Hartnup Disease
|
HND
|
|
Neutral 1 Amino Acid Transport Defect
|
Neutral Amino Acid Transport Defect
|
|
Deficiency Of Tryptophan Oxygenase
|
Hartnup'S Disease
|
|
Aminoaciduria, Hartnup Type
|
Disorder Of Neutral Amino Acid Transport
|
|
|
| Dicarboxylic Aminoaciduria |
|
Glutamate-Aspartate Transport Defect
|
Dicarboxylicaminoaciduria
|
|
DCBXA
|
Renal Aminoacidurias
|
|
|
| Iminoglycinuria |
|
Iminoglycinuria, Digenic
|
IG
|
|
|
| Lysinuric Protein Intolerance |
|
LPI
|
Dibasic Amino Aciduria Ii
|
|
Hyperdibasic Aminoaciduria
|
Dibasic Aminoaciduria 2
|
|
Dibasicamino Aciduria Ii
|
Congenital Lysinuria
|
|
Lpi - Lysinuric Protein Intolerance
|
|
|
| Cystinuria |
|
CSNU
|
Cystinuria Type B
|
|
Cystinuria Type A
|
Cystinuria, Type I, Formerly
|
|
Csnu1, Formerly
|
Cystinuria, Type Ii, Formerly
|
|
Cystinuria, Type Iii, Formerly
|
Csnu3, Formerly
|
|
Cystinuria, Type Non-I, Formerly
|
Cystinuria-Lysinuria
|
|
Cystinuria-Lysinuria Syndrome
|
Csnu1
|
|
Csnu3
|
Cystinuria 1
|
|
Cystinuria Type A/B
|
Cystinuria Type I
|
|
Cystinuria Type Ii
|
Cystinuria Type Iii
|
|
Cystinuria Type Non-I
|
Cystinuria, Type A/B
|
|
Cystinuria Type 1
|
Cystinuria - Lysinuria
|
|
Csnu - [Cystinuria]
|
Cystine Disease
|
|
|
| Episodic Ataxia, Type 6 |
|
Episodic Ataxia Type 6
|
EA6
|
|
Episodic Ataxia 6
|
Ea-6
|
|
Ataxia, Episodic, Type 6
|
|
|
| Late Congenital Syphilis |
|
Juvenile Neurosyphilis
|
Neurosyphilis, Juvenile
|
|
|
| Hypotonia-Cystinuria Syndrome |
|
Cystinuria With Mitochondrial Disease
|
2p21 Microdeletion Syndrome
|
|
HCS
|
Homozygous 2p16 Deletion Syndrome, Formerly
|
|
2p21 Deletion Syndrome
|
Del(2)(P21)
|
|
Monosomy 2p21
|
Atypical Hypotonia-Cystinuria Syndrome
|
|
Atypical Hcs
|
|
|
| Allan-Herndon-Dudley Syndrome |
|
AHDS
|
Allan-Herndon Syndrome
|
|
Monocarboxylate Transporter 8 Deficiency
|
MCT8 DEFICIENCY
|
|
Mental Retardation, X-Linked, With Hypotonia
|
Triiodothyronine Resistance
|
|
T3 Resistance
|
Mental Retardation And Muscular Atrophy
|
|
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
|
Intellectual Disability And Muscular Atrophy
|
|
Monocarboxylate Transporter-8 Deficiency
|
T3 Resisitence
|
|
Triiodothyronine Resistence
|
X-Linked Intellectual Disability With Hypotonia
|
|
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency
|
Monocarboxylate Transporter 8 Deficiency
|
|
X-Linked Intellectual Disability-Hypotonia Syndrome
|
|
|
| Ureteral Disease |
|
Ureteral Diseases
|
Ureteral Disorders
|
|
Disorder Of Ureter
|
|
|
| Persistent Fetal Circulation Syndrome |
|
Persistent Fetal Circulation
|
Fetal Circulation
|
|
Persistent Pulmonary Hypertension Of The Newborn
|
Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
|
|
Persistent Foetal Circulation
|
Persistent Foetal Circulation Syndrome
|
|
Pfc - [Persistent Fetal Circulation] Syndrome
|
Pphn - [Persistent Pulmonary Hypertension Of The Newborn]
|
|
Newborn Pulmonary Hypertension
|
Primary Pulmonary Hypertension Of Newborn
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Placental Choriocarcinoma |
|
Choriocarcinoma Of The Placenta
|
|
|
| Early Congenital Syphilis |
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| Hyperekplexia |
|
Hereditary Hyperekplexia
|
Kok Disease
|
|
Congenital Stiff Man Syndrome
|
Familial Startle Disease
|
|
Sthe
|
Stiff-Baby Syndrome
|
|
Hereditary Hyperexplexia
|
Startle Disease
|
|
Exaggerated Startle Reaction
|
Hyperexplexia Hereditary
|
|
Startle Disease, Familial
|
Startle Reaction, Exaggerated
|
|
Stiff-Man Syndrome, Congenital
|
Stiff-Person Syndrome, Congenital
|
|
Congenital Stiff-Man Syndrome
|
Congenital Stiff-Person Syndrome
|
|
Familial Hyperekplexia
|
Startle Syndrome
|
|
Stiff Baby Syndrome
|
Hyperekplexia, Hereditary
|
|
Stiff-Person Syndrome
|
|
|
| Hypertension, Essential |
|
Essential Hypertension
|
Hypertension
|
|
High Blood Pressure
|
Hypertension, Essential, Susceptibility To
|
|
Hypertensive Disease
|
Primary Hypertension
|
|
EHT
|
Hypertension, Salt-Sensitive Essential, Susceptibility To
|
|
Hyperpiesia
|
Idiopathic Hypertension
|
|
Hypertensive Disorder
|
Hypertension, Essential, Susceptibility To, 3
|
|
Hypertension, Essential 3
|
Hypertension, Essential, Salt-Sensitive
|
|
Hypertension, Essential, Susceptibility To, 6
|
Hypertension, Essential 6
|
|
Hypertension, Salt-Sensitive Essential
|
Hypertension, Susceptibility To
|
|
Hypertension, Essential, Susceptibility To, 4
|
Hypertension, Essential 4
|
|
Hypertension, Essential, Susceptibility To, 2
|
Hypertension, Essential 2
|
|
Hypertension, Essential, Susceptibility To, 1
|
Hypertension, Essential 1
|
|
Hypertension, Essential, Susceptibility To, 5
|
Hypertension, Essential 5
|
|
Htn
|
Vascular Hypertensive Disorder
|
|
Systemic Primary Arterial Hypertension
|
Hbp - [High Blood Pressure]
|
|
Systemic Arterial Hypertensive Disorder
|
Elevated Blood Pressure
|
|
Arterial Hypertension Nos
|
Hypertension Nos
|
|
Benign Hypertension
|
Systemic Arterial Hypertension
|
|
Systemic Hypertension
|
Artery Htn
|
|
Benign Htn
|
Vascular Htn
|
|
Vascular Hypertension
|
Cholesterol Hypertension
|
|
Cholesterol Htn
|
Idiopathic Htn
|
|
Malignant Hypertension
|
Malignant Htn
|
|
Raised Blood Pressure
|
Cardiovascular Hypertension
|
|
Primary Htn - [Hypertension]
|
High Arterial Tension
|
|
High Blood Pressure Disorder
|
Ht - [Hypertension]
|
|
Htn - [Hypertension]
|
Hypertensive Vascular Disease
|
|
Hypertensive Vascular Degeneration
|
|
|
| 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
|
|
|
