| 疾病名称 |
别名 |
|
| 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
|
|
|
| Urolithiasis |
|
|
| Lesch-Nyhan Syndrome |
|
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
LNS
|
|
Hprt Deficiency
|
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
|
X-Linked Hyperuricemia
|
|
Choreoathetosis Self-Mutilation Syndrome
|
Hprt1 Deficiency
|
|
Hprt Deficiency, Complete
|
Deficiency Of Imp Pyrophosphorylase
|
|
Hgprt Deficiency
|
Lesch-Nyhan Disease
|
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
|
Hg-Prt Deficiency
|
|
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
|
Lesch - Nyhan Syndrome
|
|
Hprt1 Disorders
|
Lesch Nyhan Syndrome
|
|
Complete Hprt Deficiency Complete
|
Lesch Nyhan Disease
|
|
Complete Hprt Deficiency
|
Deficiency Of Guanine Phosphoribosyltransferase
|
|
Deficiency Of Hypoxanthine Phosphoribosyltransferase
|
Hypoxanthine Phosphoribosyltransferase Deficiency
|
|
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
|
Juvenile Hyperuricemia Syndrome
|
|
Lnd
|
Primary Hyperuricemia Syndrome
|
|
Total Hprt Deficiency
|
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
|
|
X-Linked Primary Hyperuricemia
|
X-Linked Uric Aciduria Enzyme Defect
|
|
Hprt Complete Deficiency
|
Hprt Deficiency Grade Iv
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
|
|
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
|
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
|
|
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
|
|
|
| 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
|
|
|
| Gout |
|
Gouty Arthritis
|
Articular Gout
|
|
Gouty Arthropathy
|
Arthritis, Gouty
|
|
Arthritis Gouty
|
Idiopathic Gout
|
|
Idiopathic Gout, Unspecified Site
|
Gouty Bursitis
|
|
Uratic Arthritis
|
Gout Nos
|
|
Gouty
|
Gouty Diathesis
|
|
|
| Hyperuricemia, Hprt-Related |
|
Hprt-Related Gout
|
Kelley-Seegmiller Syndrome
|
|
Hprt Deficiency, Partial
|
HRH
|
|
Gout, Hprt-Related
|
Hprt1 Deficiency, Partial
|
|
Hrpt-Related Hyperuricemia
|
Hprt Deficiency, Grade I
|
|
Hprt Partial Deficiency
|
Hprt-Related Hyperuricemia
|
|
Hprt1 Partial Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I
|
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
|
|
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
|
|
Hyperuricemia, Hrpt-Related
|
|
|
| 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
|
|
|
| Disorder Of Purine Metabolism |
|
Purine Metabolism Disorder
|
|
|
| Mucopolysaccharidosis Iv |
|
Morquio Syndrome
|
Mucopolysaccharidosis Type 4
|
|
Mucopolysaccharidosis Type Iv
|
Morquio Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Mps4
|
|
Mpsiv
|
Morquio-Brailsford Disease
|
|
Chondroosteodystrophy
|
Deficiency Of Chondroitinsulphatase
|
|
Deficiency Of N-Acetylgalactosamine-6-Sulphatase
|
Mucopolysaccharidosis, Mps-Iv
|
|
Osteochondrodystrophy
|
Morquio'S Disease
|
|
Morquio'S Syndrome
|
Mps Iv
|
|
Mucopolysaccharidosis Iv
|
Morquios Syndrome
|
|
Mucopolysaccharidosis, Mps-Iv-A
|
Mucopolysaccharidosis Type Ivb
|
|
Galns Deficiency
|
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
Inborn Errors Of Purine-Pyrimidine Metabolism
|
Disorder Of Purine Or Pyrimidine Metabolism
|
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Interstitial Nephritis |
|
Nephritis, Interstitial
|
Renal Tubulo-Interstitial Disease
|
|
Nephritis Interstitial
|
Nephritis, Tubulointerstitial
|
|
|
| Purine Nucleoside Phosphorylase Deficiency |
|
Purine-Nucleoside Phosphorylase Deficiency
|
Pnp Deficiency
|
|
Nucleoside Phosphorylase Deficiency
|
Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency
|
|
Deficiency Of Inosine Phosphorylase
|
Pnpase Deficiency
|
|
PNPD
|
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
|
MPSPS
|
Mucopolysaccharidoses
|
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
| Retinitis Pigmentosa 56 |
|
RP56
|
Maculopathy, Impg2-Related
|
|
MACLP-IMPG2
|
Retinitis Pigmentosa, Type 56
|
|
|
| Arts Syndrome |
|
ARTS
|
Mrxsarts
|
|
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision
|
Mrxs18
|
|
Lethal Ataxia With Deafness And Optic Atrophy
|
Fatal X-Linked Ataxia With Deafness And Loss Of Vision
|
|
Mental Retardation, X-Linked, Syndromic, Arts Type
|
Mental Retardation, X-Linked, Syndromic 18
|
|
Syndromic X-Linked Mental Retardation 18
|
Syndromic X-Linked Mental Retardation Arts Type
|
|
Lethal Ataxia-Deafness-Optic Atrophy
|
X-Linked Fatal Ataxia With Deafness And Loss Of Vision
|
|
Ataxia-Deafness-Optic Atrophy, Lethal
|
Lethal Ataxia With Hearing Loss And Optic Atrophy
|
|
Art
|
|
|
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Diabetes Insipidus, Nephrogenic, Autosomal
|
NDI2
|
|
Diabetes Insipidus, Nephrogenic, Type Ii
|
Diabetes Insipidus, Nephrogenic, 2
|
|
Nephrogenic Diabetes Insipidus Type 2
|
Autosomal Nephrogenic Diabetes Insipidus-2
|
|
Diabetes Insipidus, Nephrogenic Type 2
|
ANDI
|
|
Diabetes Insipidus Nephrogenic Type 2
|
Doid:0081061
|
|
Nephrogenic Diabetes Insipidus
|
Congenital Nephrogenic Diabetes Insipidus
|
|
Adh-Resistant Diabetes Insipidus
|
|
|
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
PRPS1 SUPERACTIVITY
|
Prpp Synthetase Superactivity
|
|
Gout, Prps-Related
|
Prpp Synthetase Deficiency
|
|
Prpp Synthetase Overactivity
|
Prs Overactivity
|
|
Prs Superactivity
|
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
|
|
Mild Prpp Synthetase Superactivity
|
Mild Prps1 Superactivity
|
|
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
|
Severe Prpp Synthetase Superactivity
|
|
Severe Prps1 Superactivity
|
Prps-Related Gout
|
|
Superactivity, Phosphoribosylpyrophosphate Synthetase
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
MRD46
|
Mental Retardation, Autosomal Dominant 46
|
|
Autosomal Dominant Mental Retardation 46
|
Autosomal Dominant Intellectual Developmental Disorder 46
|
|
Mental Retardation, Autosomal Dominant, Type 46
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11
|
Mddga11
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
|
|
|
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
MOCODA
|
Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
|
|
Molybdenum Cofactor Deficiency A
|
Molybdenum Cofactor Deficiency Type A
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A
|
Mocod Type A
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
|
|
Molybdenum Cofactor Deficiency Complementation Group A
|
Molybdenum Cofactor Deficiency, Type A
|
|
Deficiency, Molybdenum Cofactor, Complementation Group A
|
|
|
| Molybdenum Cofactor Deficiency |
|
Combined Molybdoflavoprotein Enzyme Deficiency
|
Mocod
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
|
|
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency
|
Deficiency Of Molybdenum Cofactor
|
|
Deficiency, Molybdenum Cofactor
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
CMTX5
|
Rosenberg-Chutorian Syndrome
|
|
Charcot-Marie-Tooth Disease X-Linked Recessive 5
|
Optic Atrophy, Polyneuropathy, And Deafness
|
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5
|
Cmt5x
|
|
X-Linked Charcot-Marie-Tooth Disease Type 5
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
|
|
Optic Atrophy Polyneuropathy Deafness
|
Optic Atrophy With Polyneuropathy And Deafness
|
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
|
|
|
| Mucopolysaccharidosis, Type Iva |
|
Mps Iva
|
Galns Deficiency
|
|
MPS4A
|
Morquio A Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Morquio Syndrome A
|
|
Mucopolysaccharidosis Iva
|
Mucopolysaccharidosis Type Iva
|
|
Mpsiva
|
Morquio Disease Type A
|
|
Mucopolysaccharidosis Type 4a
|
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
|
|
Morquio Syndrome Type A
|
Mps 4a
|
|
Morquio Disease, Type A
|
Mucopolysaccharidosis 4a
|
|
Morquio'S Syndrome A
|
Mps Iv A
|
|
Mucopolysaccharidosis Iv
|
Mucopolysaccharidosis, Mps-Iv-A
|
|
|
| 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
|
|
|
| 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
|
|
|
