| 疾病名称 |
别名 |
|
| Hyperoxaluria, Primary, Type I |
|
Primary Hyperoxaluria Type 1
|
HP1
|
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Hepatic Agt Deficiency
|
Oxalosis I
|
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
|
Ph1
|
Primary Hyperoxaluria Type I
|
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Urolithiasis |
|
|
| Hyperoxaluria, Primary, Type Ii |
|
Primary Hyperoxaluria Type 2
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency
|
HP2
|
|
Oxalosis Ii
|
Glyceric Aciduria
|
|
L-Glyceric Aciduria
|
Primary Hyperoxaluria, Type Ii
|
|
Oxalosis 2
|
Hyperoxaluria Primary 2
|
|
Hyperoxaluria Primary Type Ii
|
Ph2
|
|
Primary Hyperoxaluria Type Ii
|
|
|
| Nephrolithiasis, Calcium Oxalate |
|
Kidney Stones
|
Calculus Of Kidney
|
|
Kidney Calculi
|
Nephrolithiasis
|
|
Renal Calculi
|
Calcium Oxalate Urolithiasis
|
|
CAON
|
Urolithiasis, Calcium Oxalate
|
|
Calcium Oxalate Nephrolithiasis
|
Kidney Stone
|
|
Nephrolith
|
Renal Calculus
|
|
Urinary Stones
|
Renal Stone
|
|
Calculus, Kidney
|
Calculus, Renal
|
|
Renal Lithiasis
|
Renal Stones
|
|
Urolithiasis
|
Renal Calculus Or Stone
|
|
Stone In Kidney
|
Nephritic Calculus
|
|
Multiple Kidney Calculi
|
Multiple Kidney Calculus
|
|
Nephrolithiasis Nos
|
Pelvic Nephrolithiasis
|
|
Pelviolithiasis
|
Pelvis Nephrolithiasis
|
|
|
| Anterior Cerebral Artery Infarction |
|
Infarction, Anterior Cerebral Artery
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| Hyperoxaluria, Primary, Type Iii |
|
Primary Hyperoxaluria Type 3
|
HP3
|
|
Ph Iii
|
Primary Hyperoxaluria Type Iii
|
|
Hyperoxaluria Primary 3
|
Hyperoxaluria Non-Hp1/Non-Hp2
|
|
Hyperoxaluria Non-Ph I/Ph Ii Form
|
Hyperoxaluria Primary Type Iii
|
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Adenine Phosphoribosyltransferase Deficiency |
|
Aprt Deficiency
|
2,8-Dihydroxyadenine Urolithiasis
|
|
APRTD
|
2,8-Dihydroxyadeninuria
|
|
Dihydroxyadeninuria
|
Urolithiasis, 2,8-Dihydroxyadenine
|
|
Urolithiasis, Dha
|
Nephrolithiasis, Dha
|
|
Dha Crystalline Nephropathy
|
Nephrolithiasis Dha
|
|
Urolithiasis Dha
|
|
|
| Ureterolithiasis |
|
Calculus Of Ureter
|
Ureteric Stone
|
|
Ureteral Calculi
|
Ureteric Calculus
|
|
Stone In The Ureter
|
Ureter Calculi
|
|
Ureteral Calculus Or Stone
|
Ureterolith
|
|
Ureterolithiasis Nos
|
|
|
| Xanthinuria |
|
Xanthine Dehydrogenase Deficiency
|
Xanthine Oxidase Deficiency
|
|
Hereditary Xanthinuria
|
Xanthic Urolithiasis
|
|
Xanthine Stone Disease
|
Xanthinuria, Type I
|
|
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase
|
Xdh Deficiency
|
|
Classic Xanthinuria
|
Xanthinuria, Type Ii
|
|
Classical Xanthinuria
|
Xanthine Calculus
|
|
|
| Renal Tuberculosis |
|
Tuberculosis, Renal
|
Tuberculosis Of Kidney
|
|
Tuberculosis Renal
|
|
|
| Lower Urinary Tract Calculus |
|
Calculus Of Lower Urinary Tract
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Chromosome 2q37 Deletion Syndrome |
|
Albright Hereditary Osteodystrophy-Like Syndrome
|
2q37 Microdeletion Syndrome
|
|
Brachydactyly-Intellectual Disability Syndrome
|
Deletion 2q37
|
|
2q37 Deletion Syndrome
|
Brachydactyly-Mental Retardation Syndrome
|
|
Bdmr
|
Albright Hereditary Osteodystrophy Type 3
|
|
Del(2)(Q37)
|
Monosomy 2q37qter
|
|
Albright'S Hereditary Osteodystrophy-Like Syndrome
|
Monosomy 2q37
|
|
Chromosome Deletion Syndrome 2q37
|
|
|
| Spinocerebellar Ataxia 7 |
|
Spinocerebellar Ataxia Type 7
|
SCA7
|
|
Opca3
|
Opca Iii
|
|
Olivopontocerebellar Atrophy Iii
|
Opca With Retinal Degeneration
|
|
Opca With Macular Degeneration And External Ophthalmoplegia
|
Adca, Type Ii
|
|
Autosomal Dominant Cerebellar Ataxia Type 2
|
Olivopontocerebellar Atrophy 3
|
|
Autosomal Dominant Cerebellar Ataxia, Type Ii
|
Autosomal Dominant Cerebellar Ataxia Type Ii
|
|
Adca2
|
Adcaii
|
|
Ataxia With Pigmentary Retinopathy
|
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome
|
|
Olivopontocerebellar Atrophy With Retinal Degeneration
|
Spinocerebellar Ataxia-7
|
|
Ataxia, Spinocerebellar, Type 7
|
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
Inborn Errors Of Purine-Pyrimidine Metabolism
|
Disorder Of Purine Or Pyrimidine Metabolism
|
|
|
| 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
|
|
|
| Galloway-Mowat Syndrome 1 |
|
Galloway Syndrome
|
Nephrosis-Neuronal Dysmigration Syndrome
|
|
Nephrosis-Microcephaly Syndrome
|
Camos
|
|
Scar5
|
GAMOS1
|
|
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
|
Microcephaly, Hiatal Hernia And Nephrotic Syndrome
|
|
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities
|
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
|
|
Scar5, Formerly
|
Spinocerebellar Ataxia Autosomal Recessive 5
|
|
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities
|
Camos Syndrome
|
|
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome
|
Galloway-Mowat Syndrome
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 5
|
Galloway Mowat Syndrome
|
|
Spinocerebellar Ataxia, Autosomal Recessive 5
|
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| 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
|
|
|
