Gene: Aga MGI:104873

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

aspartylglucosaminidase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aga mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aga (2 diseases)
Human diseases predicted to be associated with Aga (815 diseases)

The table below shows human diseases associated to Aga by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Aspartylglucosaminuria		Aspartylglucosaminuria, Hepatomegaly, Cerebral atrophy, Spasticity	OMIM:208400
Aspartylglucosaminuria		Aspartylglucosaminuria, Hepatomegaly, Splenomegaly	ORPHA:93

The table below shows human diseases predicted to be associated to Aga by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Disorder Of Glycosylation, Type Iii	Cerebral atrophy, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atroph...	OMIM:613612
Autosomal Recessive Spastic Paraplegia Type 78	Cerebral cortical atrophy, Progressive cerebellar ataxia, Babinski sign, Abnormal pyramidal sign,...	ORPHA:513436
Adult Polyglucosan Body Disease	Urinary bladder sphincter dysfunction, Ataxia, Abnormality of extrapyramidal motor function, Abno...	ORPHA:206583
Polyglucosan Body Neuropathy, Adult Form	Distal sensory impairment, Tetraparesis, Gait disturbance, Spastic paraplegia, Abnormal upper mot...	OMIM:263570
Diaminopentanuria	Ataxia, Cystinuria, Neurodegeneration, Hyperlysinuria, Spasticity	OMIM:222350
Machado-Joseph Disease Type 3	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera...	ORPHA:276244
Urofacial Syndrome 2	Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u...	OMIM:615112
Machado-Joseph Disease Type 1	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski...	ORPHA:276238
Machado-Joseph Disease Type 2	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski...	ORPHA:276241
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism, Ne...	OMIM:615911
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ...	OMIM:600795
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements, Cerebellar atrophy, Neuroge...	OMIM:619780
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec...	ORPHA:93108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Mitochondrial h...	OMIM:500013
Dibasic Amino Aciduria I	Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria	OMIM:222690
Hemangioblastoma	Dysesthesia, Cerebellar edema, Neurogenic bladder, Cerebellar hemangioblastoma	ORPHA:252054
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Neuronal loss in central nervous system, Ataxia, Gliosis, Hepatomegaly, Micronodular ...	OMIM:203700
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ...	OMIM:191800
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Ataxia, Slowed slurred speech, Nephropathy, Astrocytosis	OMIM:172500
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Gait disturbance, Incoordination, Homocystinuria, Paresthesia	OMIM:236250
Wolfram Syndrome 1	Ataxia, Cerebral atrophy, Hydroureter, Tremor, Hydronephrosis, Neurogenic bladder	OMIM:222300
Familial Infantile Bilateral Striatal Necrosis	Hypertonia, Loss of ambulation, Ataxia, Atrophy/Degeneration involving the caudate nucleus, Myocl...	ORPHA:225154
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Urinary ur...	OMIM:612319
Cog5-Cdg	Hepatomegaly, Brain atrophy, Micropenis, Hepatosplenomegaly, Truncal ataxia, Atrophy/Degeneration...	ORPHA:263487
Camos Syndrome	Ataxia, Nephrotic syndrome, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extr...	ORPHA:83472
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	ORPHA:42062
Becker Muscular Dystrophy	Abnormal urinary color, Tip-toe gait, Myoglobinuria, Falls, Elevated hepatic transaminase, Diffic...	ORPHA:98895
Hyperprolinemia, Type I	Hydroxyprolinuria, Prolinuria, Ataxia, Motor stereotypy, Hyperglycinuria	OMIM:239500
Foix-Alajouanine Syndrome	Gait imbalance, Functional abnormality of the bladder, Somatic sensory dysfunction, Urinary reten...	ORPHA:79093
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Ataxia, Dysmetria, Increased urine succinate l...	OMIM:618384
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Peroxisome Biogenesis Disorder 10B	Spastic paraplegia, Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice	OMIM:617370
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis	OMIM:614196
Hartnup Disorder	Hypertonia, Neutral hyperaminoaciduria, Episodic ataxia	OMIM:234500
Pelizaeus-Merzbacher Disease In Female Carriers	Inability to walk, Spastic paraparesis, Hand apraxia, Abnormality of the lower urinary tract, Bab...	ORPHA:280229
X-Linked Adrenoleukodystrophy	Paraparesis, Urinary bladder sphincter dysfunction, Clumsiness, Hemiparesis, Gait disturbance, So...	ORPHA:43
Cystinuria	Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn...	OMIM:220100
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239510
Saccharopinuria	Histidinuria, Citrullinuria, Hyperlysinuria, Saccharopinuria	OMIM:268700
Endove Syndrome, Limb-Brain Type	Cerebellar agenesis, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hematuria, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Anuri...	OMIM:612925
Porphyria Variegata	Chronic kidney disease, Hypertrichosis, Respiratory paralysis, Increased urinary porphobilinogen,...	ORPHA:79473
Neuraminidase Deficiency	Hepatomegaly, Dysmetria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Myoclonu...	OMIM:256550
Stimmler Syndrome	Ataxia, Aminoaciduria	ORPHA:3199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hematuria, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Anuri...	OMIM:612922
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Cerebral cortical atrophy, Renal tubular atrophy, Decreased glomerular filtration rate, Impaired ...	OMIM:174000
Autosomal Recessive Spastic Paraplegia Type 77	Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp...	ORPHA:466722
Hsd10 Disease	Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Gait dist...	ORPHA:391417
Sialidosis Type 1	Ataxia, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Myoclonus,...	ORPHA:812
Sporadic Creutzfeldt-Jakob Disease	Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Myoclonus, Babinski s...	ORPHA:204
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hematuria, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Anuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hematuria, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Anuri...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hematuria, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Anuri...	OMIM:612926
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary bladder sphincter dysfunction, Ataxia, Impaired vibration sensation in the lower limbs, A...	OMIM:607565
Sulfite Oxidase Deficiency, Isolated	Hemiplegia, Hypertonia, Ataxia, Cerebral atrophy, Cerebellar hypoplasia, Decreased urinary sulfat...	OMIM:272300
Inherited Creutzfeldt-Jakob Disease	Senile plaques, Neuronal loss in central nervous system, Progressive extrapyramidal muscular rigi...	ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 14	Gliosis, Cerebral atrophy, Aminoaciduria, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:614946
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ...	ORPHA:976
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity, Neurogenic bladder	OMIM:618527
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Motor stereotypy, Ataxia, Cerebral cortical atrophy, Cataplexy, Hirsutism, Sparse eyebrow, Progre...	ORPHA:496641
Leukodystrophy, Progressive, Early Childhood-Onset	Thick eyebrow, Cerebral atrophy, Neurogenic bladder, Spasticity	OMIM:617762
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Nephrolithiasis, Megacystis, Recurrent urinary tract infections, Fetal pyelectasis	OMIM:619365
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia	OMIM:615889
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Inability to walk, Cerebral atrophy, Aminoaciduria, Methylmalonic aciduria, Hyperkinetic movement...	OMIM:612073
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Inability to walk, Nephrocalcinosis, Astrocytosis	OMIM:611087
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction, Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic pa...	OMIM:610357
Encephalopathy Due To Sulfite Oxidase Deficiency	Ataxia, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity, Spastic tetraparesis	ORPHA:833
Bardet-Biedl Syndrome 12	Obesity, Abnormality of the kidney, Cognitive impairment	OMIM:615989
X-Linked Intellectual Disability, Schimke Type	Cerebral cortical atrophy, Choreoathetosis, Spasticity, Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Arima Syndrome	Ataxia, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Aplasia/Hypoplasia of the cerebell...	OMIM:243910
Hereditary Coproporphyria	Dark urine, Extension of hair growth on temples to lateral eyebrow, Facial hirsutism, Increased u...	ORPHA:79273
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu...	OMIM:256100
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Ataxia, Recurrent urinary tract infections, Multicystic k...	OMIM:618161
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we...	OMIM:308990
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Spasticity, Oromotor apraxia, Neurogenic bladder, Cerebellar atrophy	ORPHA:466934
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,...	OMIM:604387
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Hypertrichosis, Low anterior hairline, Hepatomegaly, Cerebral atrophy, ...	OMIM:608779
Mitochondrial Complex I Deficiency, Nuclear Type 27	Neurogenic bladder, Spasticity	OMIM:618248
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:618913
Duplication Of Urethra	Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper...	ORPHA:237
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c...	OMIM:614723
Adrenomyodystrophy	Abnormality of the urinary system, Hepatic steatosis, Megacystis	ORPHA:977
Hartnup Disease	Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria	ORPHA:2116
Brain-Lung-Thyroid Syndrome	Ataxia, Clumsiness, Intention tremor, Hypospadias, Myoclonus, Falls, Chorea, Choreoathetosis, Inv...	ORPHA:209905
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ...	ORPHA:171695
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Myoclonus, Ataxia, Aminoaciduria, Dysmetria	OMIM:250620
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph...	OMIM:602114
Spastic Paraplegia 10, Autosomal Dominant	Urinary bladder sphincter dysfunction, Ataxia, Impaired vibration sensation in the lower limbs, A...	OMIM:604187
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Renotubular dysgenesis	OMIM:267430
Glutamate-Cysteine Ligase Deficiency	Ataxia, Jaundice, Aminoaciduria, Hepatosplenomegaly	ORPHA:33574
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci...	ORPHA:1652
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom...	ORPHA:85450
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Congenital Primary Megaureter	Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina...	ORPHA:617
Bardet-Biedl Syndrome 18	Obesity, Renal insufficiency, Cognitive impairment	OMIM:615995
Schindler Disease, Type I	Myoclonus, Spasticity, Increased urinary O-linked sialopeptides	OMIM:609241
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Low posterior hairline, Hydronephrosis	ORPHA:1450
Arnold-Chiari Malformation Type Ii	Paraparesis, Ataxia, Opisthotonus, Abnormal medulla oblongata morphology, Somatic sensory dysfunc...	ORPHA:1136
Spinocerebellar Ataxia 17	Broad-based gait, Neuronal loss in central nervous system, Ataxia, Gliosis, Bradykinesia, Limb at...	OMIM:607136
Glutathione Synthetase Deficiency	Intention tremor, Ataxia, Increased level of L-pyroglutamic acid in urine, Spastic tetraparesis	OMIM:266130
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Cerebellar hypoplasia, Incoordination, ...	OMIM:618060
Bardet-Biedl Syndrome 10	Cognitive impairment, Abnormality of the kidney, Renal cyst, Renal insufficiency, Obesity	OMIM:615987
Spastic Paraplegia 78, Autosomal Recessive	Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba...	OMIM:617225
Leukodystrophy, Hypomyelinating, 12	Spasticity, Neurogenic bladder, Cerebellar atrophy	OMIM:616683
Cockayne Syndrome Type 3	Hepatomegaly, Brain atrophy, Splenomegaly, Unilateral renal agenesis, Intention tremor, Hydrouret...	ORPHA:90324
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Myoclonus, Hypoplasia of the pons, Neurogenic bladder, Spasticity, Voc...	ORPHA:500144
Hyper-Beta-Alaninemia	Failure to thrive, Increased urinary taurine	OMIM:237400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ...	ORPHA:228302
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormality of the liver	ORPHA:234
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Incre...	OMIM:618892
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Porphyria	Abnormal urinary color, Cerebral palsy, Paresthesia	ORPHA:738
Maternal Uniparental Disomy Of Chromosome 4	Ataxia, Dysmetria, Impaired vibratory sensation, Chaddock reflex, Spastic gait, Impaired proprioc...	ORPHA:96180
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Elevated hepatic transaminase, Duplicated collecting system, Spasticity...	OMIM:617093
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro...	ORPHA:100070
Alport Syndrome	Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin...	ORPHA:63
Ichthyosis, Split Hairs, And Amino Aciduria	Abnormal hair morphology, Aminoaciduria	OMIM:242550
Genetic Recurrent Myoglobinuria	Dark urine, Recurrent myoglobinuria, Oliguria, Elevated hepatic transaminase, Difficulty walking,...	ORPHA:99845
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic...	ORPHA:105
Succinic Semialdehyde Dehydrogenase Deficiency	Ataxia, Elevated urinary 4-hydroxybutyric acid, Hyperkinetic movements, Increased level of gamma-...	OMIM:271980
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Inability to walk, Cerebral atrophy, Aminoaciduria, Loss of ability to walk in early childhood	OMIM:609560
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Macdermot-Winter Syndrome	Frontal upsweep of hair, Low anterior hairline, Highly arched eyebrow, Hydronephrosis	OMIM:247990
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu...	OMIM:606966
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis	OMIM:125800
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat...	OMIM:613496
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Renal cortical hyperechogenicity, Patent ductus arteriosus, Fetal megacystis, Pyelon...	OMIM:619351
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Aminoaciduria, Proximal tubulopathy	OMIM:612075
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis	OMIM:304800
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Renal cortical cysts, Hepatomegaly, Glycosuria, Generalized aminoaciduria, Polycystic ki...	OMIM:231680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemiparesis, Elevated circulating creatinine concentration, Acute kidney injury, Anuria, Hemolyti...	OMIM:235400
Webb-Dattani Syndrome	Spasticity, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis	OMIM:615926
Saccharopinuria	Citrullinuria, Cystinuria, Spastic diplegia, Distal sensory impairment, Tremor, Hyperlysinuria, G...	ORPHA:3124
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic aciduria, Homocystinuria, Chorea, Athetosis	OMIM:309541
Myopathy Due To Malate-Aspartate Shuttle Defect	Red urine	OMIM:254960
Cockayne Syndrome	Ataxia, Inability to walk, Gliosis, Hepatomegaly, Abnormal renal physiology, Limb hypertonia, Dry...	ORPHA:191
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi...	ORPHA:567548
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, Portal hypertension	OMIM:232500
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Green urine, Cholestasis	OMIM:614156
Blue Diaper Syndrome	Elevated hepatic transaminase, Nephrocalcinosis, Blue urine	ORPHA:94086
Renal Hypodysplasia/Aplasia 3	Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:617805
Dystonia-Aphonia Syndrome	Abnormal urinary odor, Cerebral atrophy, Abnormal mitochondrial shape, Myoclonus, Gait disturbanc...	ORPHA:412217
Threoninemia	Hyperthreoninuria	OMIM:273770
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Aminoaciduria	ORPHA:2278
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Dent Disease 2	Chronic kidney disease, Aminoaciduria, Elevated circulating aspartate aminotransferase concentrat...	OMIM:300555
Behavioral Variant Of Frontotemporal Dementia	Motor stereotypy, Fasciculations, Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy...	ORPHA:275864
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-...	ORPHA:157
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig...	ORPHA:340
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ...	OMIM:616795
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Progressive cerebellar ataxia, ...	ORPHA:98
5-Oxoprolinase Deficiency	Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine	OMIM:260005
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Hydroureter, Portal hypertension, Hydronephrosis, Megacystis	OMIM:619431
Dicarboxylic Aminoaciduria	Nephrolithiasis, Aminoaciduria, Aspartic aciduria	OMIM:222730
Acute Intermittent Porphyria	Dark urine, Dysuria, Pseudobulbar paralysis, Respiratory paralysis, Increased urinary porphobilin...	ORPHA:79276
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic tr...	ORPHA:79303
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:79238
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Ceroid Lipofuscinosis, Neuronal, 7	Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy	OMIM:610951
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Jaundice	OMIM:301015
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Valinemia	Failure to thrive, Valinuria	OMIM:277100
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly	ORPHA:56425
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Highly arched eyebrow, Neurogenic bladder, Trichorrhexis nodosa	OMIM:619173
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-...	ORPHA:228308
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Cerebral atrophy, Hepatic failure,...	OMIM:251880
Homocarnosinosis	Spastic paraplegia, Carnosinuria	OMIM:236130
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce...	ORPHA:368
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Inability to walk, Gliosis, Hepatomegaly, 3-Methylglutaric aciduria, Ac...	ORPHA:26791
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th...	OMIM:266900
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Hydronephrosis, Megacystis	OMIM:619362
Sarcosinemia	Ataxia, Hypersarcosinuria, Tetraparesis	ORPHA:3129
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d...	OMIM:602522
Carnosinemia	Carnosinuria	OMIM:212200
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hepatic failure, Myoglobinuria, Red-brown urine, Elevated hepatic transaminase, Hep...	ORPHA:228305
Spastic Paraplegia 26, Autosomal Recessive	Abnormal cerebellum morphology, Cerebral cortical atrophy, Ataxia, Dysmetria, Tip-toe gait, Babin...	OMIM:609195
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Gracile Syndrome	Aminoaciduria, Cholestasis	OMIM:603358
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Decreased liver function, Ataxia, Hepatomegaly, Aminoaciduria, Abnorma...	ORPHA:436271
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Oculodentodigital Dysplasia	Ataxia, Sparse hair, Spastic paraparesis, Brittle hair, Aplasia/Hypoplasia of the cerebellum, Gai...	ORPHA:2710
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria	OMIM:204750
Dysmyelination With Jaundice	Hypoplasia of penis, Cerebral palsy, Hydroureter, Hydronephrosis, Jaundice	OMIM:224250
Aspartylglucosaminuria	Aspartylglucosaminuria, Hepatomegaly, Cerebral atrophy, Spasticity	OMIM:208400
Hydroxykynureninuria	Jaundice, Aminoaciduria	OMIM:236800
Fucosidosis	Glycopeptiduria, Hepatomegaly, Cerebral atrophy, Oligosacchariduria, Splenomegaly, Thick eyebrow,...	OMIM:230000
Cystathioninuria	Nephrolithiasis, Tremor, Cystathioninuria	ORPHA:212
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:619386
Phenylketonuria	Aminoaciduria	ORPHA:716
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Familial Visceral Myopathy	Hydroureter, Vesicoureteral reflux, Megacystis, Abdominal situs inversus	ORPHA:2604
Porphyria Due To Ala Dehydratase Deficiency	Difficulty walking, Increased urinary porphobilinogen, Purple urine	ORPHA:100924
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Ataxia, Abnormal renal medulla morphology, Nephronophthis...	OMIM:609583
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci...	ORPHA:882
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Oculodentodigital Dysplasia	Paraparesis, Ataxia, Sparse hair, Dry hair, Tetraparesis, Spasticity, Fine hair, Slow-growing hai...	OMIM:164200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Ataxia, Microvesicular hepatic steatosis, Cerebral atrophy, Aminoacidur...	OMIM:124000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Methylmalonic aciduria, Aminoaciduria, Ataxia	ORPHA:1933
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Inability to walk, Cerebral atrophy, Renal agenesis, Cerebellar vermis hypoplasia, Renal hypoplas...	OMIM:618494
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
3-Hydroxyisobutyric Aciduria	Failure to thrive, Aminoaciduria	OMIM:236795
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Renal Hypoplasia	Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ...	ORPHA:93101
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr...	OMIM:617145
Adrenoleukodystrophy	Paraparesis, Urinary bladder sphincter dysfunction, Impaired vibration sensation at ankles, Limb ...	OMIM:300100
Autoimmune Hemolytic Anemia	Abnormal urinary color, Splenomegaly	ORPHA:98375
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Splenomegaly	ORPHA:90037
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hypertonia, Hepatomegaly, Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaci...	OMIM:604273
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd...	OMIM:615157
Leigh Syndrome	Hepatocellular necrosis, Ataxia, Gliosis, Hypertrichosis, Spasticity	OMIM:256000
Visceral Myopathy 1	Pancreatitis, Urinary retention, Hydronephrosis, Vesicoureteral reflux, Megacystis	OMIM:155310
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Gait disturbance, Homocystinuria, Cerebral atrophy, Poor coordination	OMIM:250940
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Frontal upsweep of hair, Patent ductus arteriosus, Cerebellar atrophy, Hydronep...	OMIM:619797
Intellectual Developmental Disorder, Autosomal Dominant 42	Hemiplegia, Inability to walk, Limb hypertonia, Cerebral palsy, Neurogenic bladder, Myoclonus, Ur...	OMIM:616973
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hemoglobinuria, Peritonitis, Elevated circulating creatinine concentration, Acute k...	ORPHA:90038
Wiedemann-Steiner Syndrome	Motor stereotypy, Generalized hirsutism, Thick eyebrow, Congenital, generalized hypertrichosis, D...	ORPHA:319182
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro...	OMIM:617672
Pediatric Systemic Lupus Erythematosus	Dark urine, Hemiplegia, Nephrotic syndrome, Nephritis, Alopecia, Abnormality of the urinary syste...	ORPHA:93552
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jaundice, Cholestatic ...	OMIM:613404
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis	OMIM:618270
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Patent ductus arteriosus, Fetal megacystis, St...	OMIM:618719
Myopathy, Congenital, Progressive, With Scoliosis	Gait disturbance, Renal atrophy, Hydronephrosis	OMIM:618578
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,...	ORPHA:98772
Bardet-Biedl Syndrome 16	Cognitive impairment, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren...	OMIM:615993
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Bladder diverticulum, Fair hair, Sparse eyebrow, Ureterocele, Micropenis, Rena...	OMIM:604292
Coach Syndrome 3	Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Oculomotor apra...	OMIM:619113
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color	ORPHA:90036
Chromosome 15Q25 Deletion Syndrome	Dilatation of renal calices, Polysplenia, Synophrys	OMIM:614294
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Bardet-Biedl Syndrome 5	Obesity, Cognitive impairment, Micropenis	OMIM:615983
Infection-Related Hemolytic Uremic Syndrome	Pancreatitis, Nephrotic range proteinuria, Hemiparesis, Oliguria, Acute kidney injury, Decreased ...	ORPHA:544482
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Jaundice, Splenomegaly	ORPHA:90033
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Decreased liver function, Ataxia, Hepatomegaly, Aminoaciduria, Glycosu...	OMIM:220110
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti...	OMIM:143400
Visceral Myopathy 2	Megacystis	OMIM:619350
Microscopic Polyangiitis	Pancreatitis, Peritonitis, Hematuria, Oliguria, Paresthesia, Renal insufficiency, Glomerulopathy	ORPHA:727
Hinman Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral...	ORPHA:84085
Bardet-Biedl Syndrome 11	Obesity, Abnormality of the kidney	OMIM:615988
Tbck-Related Intellectual Disability Syndrome	Hirsutism, Inability to walk, Thick eyebrow, Neurogenic bladder, Synophrys, Global brain atrophy	ORPHA:488632
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Gait disturbance, Cerebellar vermis hypoplasia, Horizontal eyebrow, Pa...	OMIM:609757
Aspartylglucosaminuria	Aspartylglucosaminuria, Hepatomegaly, Splenomegaly	ORPHA:93
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Cystinosis	Renal tubular dysfunction, Motor stereotypy, Aminoaciduria, Abnormal pyramidal sign, Nephropathy,...	ORPHA:213
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Hirsutism, Thick eyebrow, Dilatation of renal calices, Synophrys, Pelvic kidney	ORPHA:466950
Spinocerebellar Ataxia 2	Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos...	OMIM:183090
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Gait disturbance, Homocystinuria, Cerebral atrophy	OMIM:236270
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Leigh Syndrome	Ataxia, Gliosis, Hypertrichosis, Hepatic failure, Alopecia, Chorea, Athetosis, Spasticity, Renal ...	ORPHA:506
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pelvic kidney, Dilatation of renal calices, Synophrys, Poor coordination	ORPHA:466943
Galactosemia I	Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, Ci...	OMIM:230400
Hyperprolinemia Type 2	Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Distal sensory ...	ORPHA:79101
Argininosuccinic Aciduria	Ataxia, Oroticaciduria, Abnormal hair quantity, Aminoaciduria, Trichorrhexis nodosa	ORPHA:23
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Ataxia, Intention tremor, Polyuria, Hypocalciuria, Dysdiadochokinesis, Cerebellar atrophy, Renal ...	OMIM:612780
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Proteinuria, Aminoaciduria	OMIM:603585
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Multicystic kidney dysplasia, Megacystis	ORPHA:2241
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Vesicoureteral Reflux 3	Hydroureter, Vesicoureteral reflux, Hydronephrosis	OMIM:613674
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc...	OMIM:201475
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Cerebral atrophy, Aminoaciduria, Splenomegaly, Brittle hair, Nephrocalcinosis	OMIM:616084
Hsd10 Disease, Infantile Type	Loss of ambulation, Abnormal concentration of acylcarnitine in the urine, Cerebral atrophy, Poor ...	ORPHA:391428
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ataxia, Aminoaciduria	OMIM:249270
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis	OMIM:616963
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Pancreatitis, Oliguria, Renal insufficiency	ORPHA:188
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Abnormal cerebellum morphology, Spastic paraparesis, Impaired vibratory sensation, Ankle...	ORPHA:101000
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Hypertonia, Ataxia, Action tremor, Hirsutism, Sparse hair, Hypospadias, Limb h...	ORPHA:3455
Glutamate Formiminotransferase Deficiency	Aminoaciduria	OMIM:229100
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis	ORPHA:195
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici...	OMIM:619468
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Inability to walk, Aminoaciduria, Hydronephrosis	OMIM:617913
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonus, Hydroureter, Hydronephrosis	OMIM:618240
Kanzaki Disease	Cerebral atrophy, Aminoaciduria, Axonal degeneration, Distal sensory impairment, Increased urinar...	OMIM:609242
Urofacial Syndrome 1	Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc...	OMIM:236730
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertonia, Action tremor, Hepatomegaly, Micronodular cirrhosis, Spastic paraparesis, Splenomegal...	ORPHA:309854
Glycine Encephalopathy	Myoclonus, Hyperglycinuria	OMIM:605899
Argininemia	Diaminoaciduria, Hemiplegia/hemiparesis, Progressive spastic quadriplegia	ORPHA:90
Trisomy 5P	Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia, Ventriculomegaly	ORPHA:1742
Machado-Joseph Disease	Urinary bladder sphincter dysfunction, Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykines...	OMIM:109150
8P23.1 Duplication Syndrome	Highly arched eyebrow, Hydronephrosis	ORPHA:251076
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedulla...	OMIM:208085
Gapo Syndrome	Hepatomegaly, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Tubulointerstitial fibrosi...	OMIM:230740
Dent Disease 1	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-...	OMIM:300009
Zaki Syndrome	Sparse scalp hair, Hypertonia, Sparse eyebrow, Renal agenesis, Dilated fourth ventricle, Cerebell...	OMIM:619648
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Congenital Disorder Of Glycosylation, Type Iig	Cerebral atrophy, Hypospadias, Renal insufficiency, Cerebellar atrophy, Hydronephrosis	OMIM:611209
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hepatic failure, Oliguria, Dicarboxylic aciduria, Elevated hepatic transaminase	ORPHA:159
Isolated Biliary Atresia	Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir...	ORPHA:30391
Methionine Malabsorption Syndrome	Aminoaciduria, White hair	OMIM:250900
Ethylene Glycol Poisoning	Renal tubular dysfunction, Ataxia, Myoclonus, Hematuria, Renal insufficiency, Decreased urine out...	ORPHA:31826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Cerebellar hypoplasia, Renal dysplasia, Renal cyst, Spasticity, Hydronephrosis, Dandy...	OMIM:615287
Netherton Syndrome	Sparse scalp hair, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Trichorrhexis nodosa, Ectopic...	ORPHA:634
D-Glyceric Aciduria	Hyperglycinuria, Brain atrophy, Myoclonus, Chorea, Spasticity	ORPHA:941
Spastic Paraplegia 79, Autosomal Recessive	Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera...	OMIM:615491
Senior-Loken Syndrome 4	Polyuria, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:606996
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Increased urinary taurine, Cerebral atrophy, Opisthotonus, Absent urinary urothione, Xan...	OMIM:252150
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ...	ORPHA:93110
Fanconi-Bickel Syndrome	Renal tubular acidosis, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepato...	ORPHA:2088
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Argininemia	Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Spastic paraparesis, Diaminoaciduria, Chole...	OMIM:207800
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Tryptophanuria With Dwarfism	Gait disturbance, Ataxia, Tryptophanuria	OMIM:276100
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Joubert Syndrome 37	Hepatomegaly, Sparse hair, Micropenis, Cerebellar vermis hypoplasia, Hydronephrosis, Oculomotor a...	OMIM:619185
Fanconi Renotubular Syndrome 2	Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal tubulopathy	OMIM:613388
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy...	ORPHA:3467
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Split Cord Malformation	Paraparesis, Hypertrichosis, Tufted hairs, Hypospadias, Renal duplication, Functional abnormality...	ORPHA:573278
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Acute panc...	ORPHA:99829
Recombinant Chromosome 8 Syndrome	Hypertonia, Cerebral atrophy, Patent ductus arteriosus, Hydronephrosis, Low posterior hairline	OMIM:179613
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Hepatomegaly, Polyuria, Myoclonus, Proximal tubulopathy	OMIM:560000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrolithiasis, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular c...	ORPHA:79259
2P21 Microdeletion Syndrome	Nephrolithiasis, Long eyelashes, Cystinuria	ORPHA:163693
Multiple System Atrophy 1, Susceptibility To	Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Urinary urgency, Olivoponto...	OMIM:146500
Central Precocious Puberty	Increased body weight, Hydrocephalus, Obesity, Overgrowth	ORPHA:759
Bladder Diverticulum	Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he...	OMIM:109820
Combined Oxidative Phosphorylation Deficiency 24	Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Focal segmental glomeruloscl...	OMIM:616239
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Ventriculomegaly, Impaired histidine renal tubular absorption	ORPHA:2158
D-Glyceric Aciduria	Cerebral cortical atrophy, Aminoaciduria, Opisthotonus, Micropenis, Myoclonus, Tongue thrusting, ...	OMIM:220120
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve...	ORPHA:2704
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Gait ataxia, Neurodegeneration, Cerebellar atrophy	ORPHA:438134
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci...	OMIM:134600
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta...	ORPHA:731
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Elevated hepatic transaminase, Hepat...	ORPHA:71212
Leber Congenital Amaurosis 1	Hyperthreoninuria, Hepatomegaly, Eye poking	OMIM:204000
Lassa Fever	Oliguria, Jaundice	ORPHA:99824
Ornithine Transcarbamylase Deficiency	Hepatic failure, Aminoaciduria, Splenomegaly	ORPHA:664
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Currarino Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Neurogenic bladder, ...	OMIM:176450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Aminoaciduria, Glycosuria, Elevated hepatic transaminase, Proteinuria, Hyperphospha...	OMIM:616026
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S...	OMIM:615643
Wilson Disease	Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Hepatic failure, G...	OMIM:277900
Spinocerebellar Ataxia Type 8	Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop...	ORPHA:98760
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral hypoplasia, Cerebral atrophy, Bladder trabeculation, Ureteral duplication, Renal dysplas...	OMIM:614080
Neurodegeneration With Brain Iron Accumulation 2A	Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Abnormal pyramidal si...	OMIM:256600
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Gliosis, Increased urinary taurine, Cerebral atrophy, Opisthotonus, Xanthinuria, Myoc...	OMIM:252160
Distal Trisomy 6P	Abnormal hair quantity, Abnormality of the urinary system, Renal hypoplasia, Abnormal eyelash mor...	ORPHA:1745
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Dibasicaminoaciduria	OMIM:238750
Argininosuccinic Aciduria	Ataxia, Oroticaciduria, Hepatomegaly, Aminoaciduria, Brittle hair, Dry hair, Elevated circulating...	OMIM:207900
Hemochromatosis, Neonatal	Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo...	OMIM:231100
Tetraploidy	Renal hypoplasia/aplasia, Chiari malformation, Hydronephrosis	ORPHA:3305
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Alaninuria	OMIM:202900
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis	OMIM:613735
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Sparse hair, Spasticity, Hydronephrosis	OMIM:616449
Wolfram Syndrome 2	Neurogenic bladder	OMIM:604928
Dermotrichic Syndrome	Aminoaciduria, Nail dystrophy	ORPHA:99688
Mirizzi Syndrome	Dark urine, Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga...	ORPHA:521219
Supranuclear Palsy, Progressive, 1	Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Gliosis, Cereb...	OMIM:601104
Hepatoerythropoietic Porphyria	Splenomegaly, Loss of eyelashes, Purple urine, Red-brown urine, Facial hypertrichosis, Paresthesi...	ORPHA:95159
Renal Glucosuria	Polyuria, Glycosuria, Enuresis nocturna	OMIM:233100
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T...	OMIM:300894
Car T Cell Therapy-Associated Cytokine Release Syndrome	Decreased urine output, Elevated hepatic transaminase, Elevated circulating creatinine concentrat...	ORPHA:542323
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Micropenis, Myoclonus, Babinski sign, Cerebellar vermis hypoplasia, Spasticit...	ORPHA:364028
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia, 3-Methylglutaric aciduria	OMIM:250951
Fanconi Anemia, Complementation Group O	Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease	OMIM:613390
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Spondyloenchondrodysplasia With Immune Dysregulation	Spastic diplegia, Spasticity, Progressive spastic quadriplegia, Tubulointerstitial fibrosis	OMIM:607944
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Hypercalcemia, Infantile, 1	Nephrolithiasis, Polyuria, Nephrocalcinosis, Hypercalciuria	OMIM:143880
Peroxisome Biogenesis Disorder 1A (Zellweger)	Loss of ambulation, Cerebral cortical atrophy, Hepatomegaly, Aminoaciduria, Prolonged neonatal ja...	OMIM:214100
Takenouchi-Kosaki Syndrome	Ataxia, Cerebral cortical atrophy, Sparse eyebrow, Unilateral renal agenesis, Hypospadias, Cerebe...	OMIM:616737
Biemond Syndrome Type 2	Obesity, Hydrocephalus, Hypospadias	ORPHA:141333
Xanthinuria, Type I	Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis	OMIM:278300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Ataxia, Cerebral atrophy, Poor coordination, Spastic diplegia, Myoglobinuria, Neurodeg...	OMIM:616878
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Ureteral atresia, Hydronephrosis	OMIM:183802
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Acute Liver Failure	Hepatocellular necrosis, Ataxia, Pain insensitivity, Incoordination, Elevated hepatic transaminas...	ORPHA:90062
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic aciduria, Homocystinuria, Spastic ataxia, Cerebral cortical atrophy	OMIM:277410
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Motor stereotypy, Ataxia, Nephronophthisis, Dilated fourt...	OMIM:610688
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Diabetic Embryopathy	Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Aplasia/Hypoplasia of the cerebellum,...	ORPHA:1926
Sepsis In Premature Infants	Decreased liver function, Hepatomegaly, Splenomegaly, Reversible renal failure, Oliguria, Jaundice	ORPHA:90051
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Fetal pyelectasis, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia	OMIM:616531
Lethal Congenital Contracture Syndrome 2	Akinesia, Hydronephrosis	OMIM:607598
Frontometaphyseal Dysplasia 2	Hirsutism, Low anterior hairline, Thick eyebrow, Patent ductus arteriosus, Neurogenic bladder	OMIM:617137
Lujo Hemorrhagic Fever	Resting tremor, Fulminant hepatitis, Oliguria, Elevated hepatic transaminase, Renal insufficiency...	ORPHA:319213
Trisomy 13	Abnormality of the ureter, Multiple renal cysts, Abnormal eyelash morphology, Patent ductus arter...	ORPHA:3378
Canavan Disease	Abnormal pyramidal sign, Brain atrophy, Opisthotonus, Elevated urinary N-acetylaspartic acid level	OMIM:271900
Hereditary Orotic Aciduria	Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Patent ductus arteriosus,...	ORPHA:30
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Renal angiomyolipoma, Hematuria, Multiple renal cysts	ORPHA:538
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebral cortical atrophy, Supernumerary nipple, Highly arched eyebrow, Atrophy/Degeneration affe...	OMIM:618454
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Cerebral cortical atrophy, Abnormality of the ureter, Abnormality of th...	ORPHA:1834
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Limb hypertonia, Inability to walk, Hydronephrosis	ORPHA:488613
Diabetes Insipidus, Neurohypophyseal, X-Linked	Polyuria, Hydronephrosis	OMIM:304900
Micro Syndrome	Abnormal cerebellum morphology, Cerebral cortical atrophy, Generalized hirsutism, Hypoplasia of p...	ORPHA:2510
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hirsutism, Hepatomegaly, Micropenis, Hypospadias, Cerebellar hypoplasia, Elevated hepatic transam...	OMIM:301056
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Motor stereotypy, Gliosis, Micropenis, Hyperkinetic movements, Gait disturbance, Tremor, Cerebell...	ORPHA:457240
East Syndrome	Ataxia, Inability to walk, Action tremor, Renal magnesium wasting, Difficulty walking, Cerebellar...	ORPHA:199343
Richards-Rundle Syndrome	Gait disturbance, Hypertonia, Ketonuria, Ataxia	ORPHA:1399
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Blepharospasm, Bradykinesia, Abnormality of extrapyramidal motor function, Babi...	OMIM:234200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypertonia, Hypoplasia of penis, Abnormal hair pattern, Hydronephrosis, Highly arched eyebrow	ORPHA:2083
Prune Belly Syndrome	Hydroureter, Patent ductus arteriosus, Hydronephrosis, Urethral valve, Congenital posterior ureth...	OMIM:100100
Porphyria, Congenital Erythropoietic	Cholelithiasis, Hypertrichosis, Absent eyebrow, Alopecia, Splenomegaly, Loss of eyelashes, Pink u...	OMIM:263700
Hyperlysinemia	Argininuria, Clumsiness, Cystinuria, Dysmetria, Tip-toe gait, Opisthotonus, Spastic diplegia, Nec...	ORPHA:2203
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Aminoaciduria, Hypoplastic nipples	OMIM:273400
Congenital Erythropoietic Porphyria	Splenomegaly, Increased urinary porphobilinogen, Loss of eyelashes, Purple urine, Red-brown urine...	ORPHA:79277
Ritscher-Schinzel Syndrome 1	Hypospadias, Dandy-Walker malformation, Low posterior hairline, Hydronephrosis	OMIM:220210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif...	OMIM:608836
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Upper motor neuron dysfunction, Brain atrophy, Spastic paraparesis, Homocystinuria, Hemip...	ORPHA:395
Distal Renal Tubular Acidosis	Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei...	ORPHA:18
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Ventriculomegaly	ORPHA:521390
Gitelman Syndrome	Ataxia, Polyuria, Hypocalciuria, Nocturia, Paralysis, Paresthesia, Renal potassium wasting, Enure...	OMIM:263800
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder	ORPHA:137667
Histidinuria Due To A Renal Tubular Defect	Histidinuria, Impaired histidine renal tubular absorption	OMIM:235830
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa...	OMIM:613550
Gyrate Atrophy Of Choroid And Retina	Abnormal hair morphology, Aminoaciduria	ORPHA:414
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a...	OMIM:603471
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Spastic diplegia, Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Long eyelashes, Cystinuria	OMIM:606407
Hypomagnesemia 3, Renal	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,...	OMIM:248250
Desmoid Tumor	Abnormality of the upper urinary tract, Hydronephrosis	ORPHA:873
9Q21.13 Microdeletion Syndrome	Difficulty walking, Hydronephrosis	ORPHA:531151
Colchicine Poisoning	Oliguria, Renal insufficiency, Alopecia	ORPHA:31824
Trisomy 17P	Hypertonia, Generalized hirsutism, Hypoplasia of penis, Broad eyebrow, Polycystic kidney dysplasi...	ORPHA:261290
Erdheim-Chester Disease	Dysuria, Abnormal cerebellum morphology, Ataxia, Retroperitoneal fibrosis, Renal insufficiency, H...	ORPHA:35687
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Methylmalonic aciduria, ...	OMIM:277400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Jaundice, Aminoaciduria, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis	OMIM:214110
Trisomy 20P	Low anterior hairline, Thick eyebrow, Abnormality of the kidney, Abnormality of the ureter, Hypos...	ORPHA:261318
Intellectual Disability, Buenos-Aires Type	Spastic gait, Fine hair, Hydronephrosis	ORPHA:3079
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Bor Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal...	ORPHA:107
Suleiman-El-Hattab Syndrome	Hirsutism, Thick eyebrow, Frontal hirsutism, Synophrys, Hydronephrosis, Highly arched eyebrow	OMIM:618950
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevate...	OMIM:619534
Bardet-Biedl Syndrome 19	Obesity, Renal insufficiency	OMIM:615996
Senior-Loken Syndrome 3	Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease	OMIM:606995
8P Inverted Duplication/Deletion Syndrome	Hypertonia, Micropenis, Frontal balding, Abnormality of the urinary system, Cerebellar hypoplasia...	ORPHA:96092
Type 1 Diabetes Mellitus	Polyuria	OMIM:222100
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Hypercalciuria, Hyperphosphaturia	OMIM:239200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Failure to thrive, Ketonuria, Aminoaciduria	OMIM:614520
Cystinosis, Nephropathic	Nephrolithiasis, Exocrine pancreatic insufficiency, Medullary nephrocalcinosis, Hepatomegaly, Ami...	OMIM:219800
Junctional Epidermolysis Bullosa With Pyloric Atresia	Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp...	ORPHA:79403
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Ataxia, Hepatic failure, Oliguria, Acute kidney injury	ORPHA:466650
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Duplicated colle...	ORPHA:541423
Fumarase Deficiency	Cerebral atrophy, Aminoaciduria, Cholestasis, Hepatic failure	OMIM:606812
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Gliosis, Cerebral atrophy, Microvesicular hepatic steatosis, Hepatomegaly, Mic...	ORPHA:404454
Chromosome 2P16.1-P15 Deletion Syndrome	Cerebral atrophy, Micropenis, Hypoplasia of the pons, Spasticity, Hydronephrosis	OMIM:612513
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter...	ORPHA:49041
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Supernumerary nipple, Myoclonus, Gait disturbance, Hydronephrosis, Oculomotor apraxia, Hi...	ORPHA:247262
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertonia, Increased urinary taurine, Limb hypertonia, Hypoplasia of the pons, Cerebellar hypopl...	OMIM:615501
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Cerebellar hypoplasia, Patent ductus arterio...	ORPHA:261344
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal potassium wasting, Renal magnesium wasting	OMIM:618314
Cholera	Decreased urine output, Abnormality of renal excretion, Acute kidney injury	ORPHA:173
22Q11.2 Duplication Syndrome	Motor stereotypy, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Bardet-Biedl Syndrome 17	Poor coordination, Micropenis, Polyuria, Renal cyst, Stage 5 chronic kidney disease	OMIM:615994
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Intellectual Developmental Disorder, Autosomal Dominant 48	Motor stereotypy, Hypospadias, Dilated fourth ventricle, Dysgenesis of the cerebellar vermis, Cer...	OMIM:617751
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Chorea, Rigi...	OMIM:606159
Obesity Due To Sim1 Deficiency	Obesity, Memory impairment, Cognitive impairment	ORPHA:369873
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic aciduria, Homocystinuria, Patent ductus arteriosus, Cerebral atrophy	OMIM:614857
Propionic Acidemia	Hyperglycinuria, Pancreatitis, Hepatomegaly, Cerebral atrophy, Limb hypertonia, Increased level o...	OMIM:606054
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Hydrocephalus, Azoospermia	ORPHA:2183
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Sparse eyebrow, Multicystic kidney dysplasia, Cerebellar hypoplasia, Gait d...	ORPHA:261349
Macrosomia Adiposa Congenita	Large for gestational age, Obesity	OMIM:248100
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting	OMIM:613845
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Hepatomegaly, Elevated hepatic transaminase, Medium chain dicarboxylic aciduria,...	OMIM:201450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Cerebellar hypoplasia, Hydronephrosis, Micropenis	OMIM:616897
Neurodegeneration With Brain Iron Accumulation 4	Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneration, Abnormal pyramidal si...	OMIM:614298
Kleefstra Syndrome	Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of penis, Supernumerary nipple, Micropeni...	ORPHA:261494
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte...	ORPHA:449395
Tarp Syndrome	Cerebellar vermis hypoplasia, Horseshoe kidney, Cerebellar hypoplasia, Hydronephrosis	OMIM:311900
Distal Tetrasomy 15Q	Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Patent ...	ORPHA:314588
Sacral Defect With Anterior Meningocele	Urinary retention, Neurogenic bladder	OMIM:600145
Bilateral Frontoparietal Polymicrogyria	Gait imbalance, Abnormal cerebellum morphology, Abnormal pyramidal sign, Hypoplasia of the pons, ...	ORPHA:101070
Khan-Khan-Katsanis Syndrome	Hypertonia, Cerebellar vermis hypoplasia, Renal hypoplasia, Patent ductus arteriosus, Hydronephro...	OMIM:618460
Encephalocraniocutaneous Lipomatosis	Alopecia, Cerebellar hypoplasia, Hydronephrosis, Pelvic kidney, Dandy-Walker malformation	OMIM:613001
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass...	ORPHA:411634
Richards-Rundle Syndrome	Atrophy of the spinal cord, Ketonuria, Ataxia	OMIM:245100
Kury-Isidor Syndrome	Hypertrichosis, Hydronephrosis, Alopecia	OMIM:619762
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr...	ORPHA:158684
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver...	ORPHA:370022
Orofaciodigital Syndrome Type 1	Ataxia, Exocrine pancreatic insufficiency, Sparse hair, Brittle hair, Alopecia, Coarse hair, Mult...	ORPHA:2750
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Crome Syndrome	Renal tubular epithelial necrosis, Cerebellar dysplasia	OMIM:218900
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Sparse scalp hair, Inability to walk, Cerebral atrophy, Male urethral meatus sten...	ORPHA:464738
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria, Athetosis	OMIM:618857
7Q11.23 Microduplication Syndrome	Motor stereotypy, Dysmetria, Unilateral renal agenesis, Hypospadias, Cerebellar hypoplasia, Horiz...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Frontal upsweep of hair, Involuntary movements, Unsteady gait, Hydronephrosis	OMIM:617798
Proximal Renal Tubular Acidosis	Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol...	ORPHA:47159
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Inability to walk, Astrocytosis	ORPHA:258
Hyperphosphatemia, Polyuria, And Seizures	Polyuria	OMIM:239350
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Neurodegeneration With Brain Iron Accumulation 2B	Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi...	OMIM:610217
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair patt...	ORPHA:2315
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