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Gene: Clcn5 MGI:99486

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

chloride channel, voltage-sensitive 5

Synonyms:

Clc4-1, 5430408K11Rik, Clcn4-1, D930009B12Rik, ClC-5, DXImx42e, Sfc13, Clc5

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 Clcn5 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 Clcn5 (4 diseases)
Human diseases predicted to be associated with Clcn5 (1418 diseases)

The table below shows human diseases associated to Clcn5 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554

The table below shows human diseases predicted to be associated to Clcn5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Threoninemia	Hyperthreoninuria	OMIM:273770
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Stimmler Syndrome	Microdontia, Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology	ORPHA:3199
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Abnormality of the dentition	ORPHA:2278
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Carnosinemia	Carnosinuria	OMIM:212200
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r...	ORPHA:2197
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio...	OMIM:611555
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Phenylketonuria	Aminoaciduria	ORPHA:716
Cataract 47	Glycosuria	OMIM:612018
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Mercaptolactate-Cysteine Disulfiduria	High, narrow palate, Aminoaciduria, High palate	OMIM:249650
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis	OMIM:612286
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Homocarnosinosis	Carnosinuria	OMIM:236130
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth	OMIM:613312
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,...	OMIM:616026
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Pentosuria	Abnormal urine carbohydrate level	ORPHA:2843
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Gracile Syndrome	Increased circulating ferritin concentration, Aminoaciduria	OMIM:603358
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Galactosemia Iii	Aminoaciduria, Galactosuria	OMIM:230350
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Hartnup Disorder	Glossitis, Neutral hyperaminoaciduria	OMIM:234500
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Valinemia	Valinuria	OMIM:277100
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p...	ORPHA:839
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami...	ORPHA:2088
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Hereditary Renal Hypouricemia	Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi...	ORPHA:94088
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Argininemia	Diaminoaciduria	ORPHA:90
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria	OMIM:242050
Nephrotic Syndrome, Type 2	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:600995
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting	ORPHA:564178
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria	OMIM:602722
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Thick vermilion border, Long philtrum	ORPHA:833
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting	OMIM:618314
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri...	ORPHA:157215
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Methionine Malabsorption Syndrome	Aminoaciduria	OMIM:250900
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration	OMIM:605850
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Familial Expansile Osteolysis	Hydroxyprolinuria, Premature loss of teeth, Fragile teeth	OMIM:174810
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Hypotonia-Cystinuria Syndrome	Retrognathia, Nephrolithiasis, Cystinuria	ORPHA:163690
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic aciduria	OMIM:613646
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia	ORPHA:664
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Hyperparathyroidism, Neonatal Severe	Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria	OMIM:239200
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Micrognathia, Lacticaciduria, Renal hypoplasia, Wide mouth, Aminoaciduria, 3-Methylglutaconic aci...	OMIM:604273
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Thin upper lip vermilion, Histidinuria, Long philtru...	OMIM:235830
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Increased circulating renin level, Decreased g...	OMIM:601198
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Tooth abscess	ORPHA:89937
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria	OMIM:300971
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria	OMIM:222100
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Saccharopinuria	Citrullinuria, Hyperlysinuria, Abnormality of circulating enzyme level, Cystinuria	ORPHA:3124
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia, Long philtrum	ORPHA:2158
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy...	OMIM:608709
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric aciduria	OMIM:613657
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Abnormality of dental color, Kyphoscoliosis, Horseshoe kidney	OMIM:163200
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic kidney disease, Nep...	OMIM:301006
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
Blue Diaper Syndrome	Nephrocalcinosis	OMIM:211000
Dermotrichic Syndrome	Aminoaciduria, Abnormal vertebral morphology	ORPHA:99688
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentition, Nephrol...	ORPHA:93598
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Micrognathia, Hypercalciuria, Nephrocalcinosis, Tooth malposition	OMIM:156400
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Abnormality of the dentition, Vertebral clefting, Hypercalciuria, N...	OMIM:241500
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Micropenis, Hypospadias, Hypercalciuria	OMIM:614732
Myasthenic Syndrome, Congenital, 22	Tented upper lip vermilion, Cystinuria	OMIM:616224
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the dentition, Chronic k...	ORPHA:416
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Glycine Encephalopathy 1	Hyperglycinuria	OMIM:605899
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:250620
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:603278
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:612933
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Abnormality of the dentition	OMIM:193100
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypocalciuria	OMIM:154020
Acquired Partial Lipodystrophy	Glomerulopathy, Insulin resistance, Microscopic hematuria, Proteinuria	ORPHA:79087
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Cleft upper lip	OMIM:273400
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Elevated circulating creatine kinase concentration, ...	OMIM:272300
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Galloway-Mowat Syndrome 5	Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:617731
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:255100
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated...	OMIM:220150
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Micrognathia, Cleft ...	OMIM:616730
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalciuria, Hypocalciuria, Nephrolithiasis	OMIM:145980
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria	ORPHA:375
Oculoskeletodental Syndrome	Renal agenesis, Hypercalciuria, Macroglossia, Oligodontia, Mucopolysacchariduria, Thoracic kyphos...	OMIM:618440
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge...	OMIM:613845
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Hypercalciuria, Rena...	OMIM:615398
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Fasting hypoglycemia, Hyperins...	ORPHA:263455
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Premature l...	OMIM:239000
Oculoskeletodental Syndrome	Hyperlordosis, Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Thoracic kyphosis, Sc...	ORPHA:557003
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria	ORPHA:2239
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Kypho...	ORPHA:812
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb...	OMIM:271630
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Kyphoscoliosis, Delayed eruption of teeth	OMIM:617105
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,...	ORPHA:320
Orthostatic Intolerance	Elevated urinary norepinephrine level	OMIM:604715
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Narrow ...	ORPHA:261222
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph...	OMIM:211900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy	ORPHA:1192
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Abnormal vertebral morphology	ORPHA:352540
Lipoyltransferase 1 Deficiency	Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Micrognathia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Red...	OMIM:208085
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Short philtrum	OMIM:603585
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	ORPHA:2364
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria	OMIM:176200
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus	ORPHA:225
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Abnormality of the dentition	ORPHA:66631
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Galloway-Mowat Syndrome 6	Proteinuria, Downturned corners of mouth, Nephrotic syndrome, Focal segmental glomerulosclerosis,...	OMIM:618347
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Micr...	OMIM:618348
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia	ORPHA:1816
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes mellitus, Stage 5 chronic...	OMIM:219800
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Pyruvate Dehydrogenase Phosphatase Deficiency	Lacticaciduria	ORPHA:79246
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney...	OMIM:166300
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Abnormal sacroiliac...	ORPHA:289176
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:611590
Glycogen Storage Disease V	Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Type I diabetes melli...	ORPHA:213
Glutaric Acidemia Type 3	Glutaric aciduria, Sacral dimple, Ketonuria, Abnormality of circulating enzyme level	ORPHA:35706
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Chronic kidney disease, ...	ORPHA:85445
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Diabetes mellitus	OMIM:249270
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia	ORPHA:2056
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Renal tubular dysfunction, Hypercalciuria	OMIM:241530
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Renal insufficiency, Proteinuria, Stage 5...	ORPHA:650
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome	OMIM:123540
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Nephrocalcinosis, Wide mouth, Open mouth, Thick upper lip vermilion	OMIM:611087
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Hypoglycemia, Renal salt wasting	OMIM:201910
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Nephrolithiasi...	OMIM:277900
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva...	OMIM:614105
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Open mouth, Tented upper lip vermilion, Wide mouth	ORPHA:500533
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria, High palate	OMIM:614520
Hypokalemic Tubulopathy And Deafness	Renal salt wasting	OMIM:619406
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Hypophosphatasia, Childhood	Carious teeth, Elevated urine pyrophosphate, Phosphoethanolaminuria, Premature loss of primary teeth	OMIM:241510
Bruck Syndrome 2	Hydroxyprolinuria, Platyspondyly	OMIM:609220
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Increased circulating renin level, Renal s...	OMIM:612780
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Mccune-Albright Syndrome	Hyperphosphaturia, Dental malocclusion, Abnormal facial skeleton morphology, Renal phosphate wast...	ORPHA:562
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Seckel Syndrome 10	Microretrognathia, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insuli...	OMIM:617253
Teratoma, Pineal	Polyuria	OMIM:273120
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hypoglycemia	ORPHA:6
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria	OMIM:236270
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Short neck, Micrognathia, C...	OMIM:300990
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Renal tubular dysfunction, Enamel hypomineralization, Spinal canal stenosis	OMIM:307800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Red-brown urine, Stage 5...	ORPHA:228302
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria	OMIM:617184
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Hartnup Disease	Abnormal urinary color, Glossitis, Gingivitis, Neutral hyperaminoaciduria	ORPHA:2116
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:601678
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Lacticaciduria, Scoliosis	OMIM:618811
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Neonatal hypoglyc...	ORPHA:445038
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves...	OMIM:617271
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Oligosacchariduria, Macroglossia, Hig...	OMIM:616354
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Mitochondrial Pyruvate Carrier Deficiency	Thin upper lip vermilion, Organic aciduria, Hypoglycemia, Long philtrum	OMIM:614741
Helix Syndrome	Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria	OMIM:617671
Familial Hyperaldosteronism Type Iii	Hypercalciuria	ORPHA:251274
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis	OMIM:616901
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria, Microdontia	ORPHA:1765
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Retrognathia, High palate	OMIM:615330
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia	OMIM:201450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Insulin-Resistance Syndrome Type B	Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H...	ORPHA:2298
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Nephrolithiasis, Cystinuria, Cystine crystalluria, Neonatal hypoglycemia	OMIM:606407
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Macroglossia, Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Micrognathia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos...	OMIM:617913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Polyuria	OMIM:560000
Propionic Acidemia	Organic aciduria, Hypoglycemia	ORPHA:35
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Proteinuria, Malar prominence, Wide m...	ORPHA:2715
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Abnorm...	ORPHA:2260
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit...	ORPHA:405
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Stage 5 chron...	OMIM:617575
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Narrow mouth	OMIM:616539
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Mandibular prognathia, Glomerulonephritis, Chronic kidney disease, High palate, Thoracic kyphosis	ORPHA:2172
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria	OMIM:619063
Urocanase Deficiency	Urocanic aciduria	OMIM:276880
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, High, narrow palate, Hypercalc...	ORPHA:369837
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Paroxysmal Cold Hemoglobinuria	Back pain, Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Lesch-Nyhan Syndrome	Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Enuresis, Ren...	OMIM:619743
Brown-Vialetto-Van Laere Syndrome 2	Kyphoscoliosis, Organic aciduria, Tongue fasciculations, Scoliosis	OMIM:614707
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	ORPHA:2118
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia, Retrognathia	OMIM:191830
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis	OMIM:146200
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Downturned corners of mouth, Nephropathy, Proteinuria, Micrognathia	ORPHA:2774
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Renal insufficiency, Proteinuria, Hypoplasia of the maxilla, Renal hypoplasia,...	ORPHA:1307
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Ohdo Syndrome	Proteinuria, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narro...	OMIM:249620
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Ketotic hypoglycemia	ORPHA:79159
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Vertebral compression fracture, Prema...	OMIM:602080
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria	OMIM:125800
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal corticomedull...	OMIM:243910
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria	OMIM:304800
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria	OMIM:614265
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria	ORPHA:428
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Kyphosis, Thick lower lip vermilion, Widely spaced teeth, Scoliosis, H...	OMIM:619797
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hypoglycemia	ORPHA:369
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Nephrotic syndrome, Long philt...	OMIM:619428
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concen...	OMIM:614376
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Dental crowding, Kyphoscoliosis, Methioninuria, High palate, Scoliosis, Biconcave vertebral bodie...	OMIM:236200
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	OMIM:612073
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Increased circulating renin level, No...	OMIM:263800
Myasthenia Gravis	Glycosuria	ORPHA:589
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Aciduria	OMIM:617950
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary norepinephrine level, Hype...	ORPHA:653
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Thin vermilion border, Thi...	ORPHA:86818
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind...	OMIM:607155
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hyperlordosis, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplasia of denta...	ORPHA:73223
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology	ORPHA:2238
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality ...	ORPHA:1133
Seckel Syndrome 8	Micrognathia, Kyphoscoliosis, Ectopic kidney	OMIM:615807
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hypernatriuria, Hyposthenuria, Decreased circulating renin level	OMIM:300539
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypospadias, Scoliosis, Abnormality of the dentition	ORPHA:1548
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,...	OMIM:619055
Xanthinuria, Type Ii	Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria	OMIM:603592
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Kyphoscoliosis, Nephrocalcinosis, High palate, Retrognathia	OMIM:618005
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Renal hypoplasia/aplasia, T...	ORPHA:2863
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Proteinuria, Micrognathia, Abnormality of the dentition,...	ORPHA:2065
D-Glyceric Aciduria	Aminoaciduria, Hypoglycemia, Micropenis	OMIM:220120
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Urocanic Aciduria	Urocanic aciduria	ORPHA:210128
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula...	ORPHA:2728
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Retrognathia, Platyspondyly, Delayed eruption of permanent teeth, Peri...	OMIM:619269
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Aapoaiv Amyloidosis	Back pain, Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial ...	ORPHA:439232
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Papa Syndrome	Type I diabetes mellitus, Proteinuria	ORPHA:69126
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Micrognathia	OMIM:214110
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting	OMIM:612089
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Impaired glucose tolerance, Abnormality of the dentition,...	ORPHA:769
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome	ORPHA:69061
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Homocitrullinuria	OMIM:238970
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Familial Tumoral Calcinosis	Abnormality of the dentition, Abnormality of the gingiva, Gingivitis, Nephrocalcinosis, Abnormal ...	ORPHA:53715
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, High palate, Renal hypoplasia	OMIM:619053
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Increased circulating renin level, Abnorma...	ORPHA:199343
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Nephrocalci...	OMIM:268310
Riboflavin Deficiency	Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Heme Oxygenase 1 Deficiency	Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti...	OMIM:614034
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury	ORPHA:57
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Renal salt wasting	OMIM:203400
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating renin level, Renal salt wasting	OMIM:610600
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali...	ORPHA:582
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Micrognathia	OMIM:614857
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Micrognathia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, High palate, Al...	OMIM:620089
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Acute kidney injury, Proteinuria	OMIM:618886
Opsismodysplasia	Short neck, Hypoplasia of the odontoid process, Renal phosphate wasting, Hypoplastic vertebral bo...	OMIM:258480
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsuli...	OMIM:262190
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Hypoalbuminemia, Sc...	ORPHA:79327
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont...	OMIM:253000
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:145600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria	OMIM:264700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar...	ORPHA:2522
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Hypospadias, Dental crowding, Hyperlordosis, Micrognathi...	OMIM:615761
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Type...	OMIM:557000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, High palate, Scoliosis	OMIM:611225
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Wide mouth, Amino...	ORPHA:85276
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria	OMIM:210210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Hypoglycemia, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Oral u...	ORPHA:79259
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
X-Linked Hypophosphatemia	Odontodysplasia, Sacroiliac joint synovitis, Tooth abscess, Renal phosphate wasting, Hypocalciuri...	ORPHA:89936
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Renal insufficiency, Proteinuria, Renal i...	ORPHA:85450
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria	OMIM:277410
Leprechaunism	Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Thick vermili...	ORPHA:508
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Cryoglobulinemic Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:91138
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting	OMIM:264350
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Thick lower lip verm...	OMIM:609242
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc...	ORPHA:251004
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Baralle-Macken Syndrome	Kyphosis, Urinary incontinence, High, narrow palate	OMIM:619255
Familial Mediterranean Fever	Proteinuria, Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Oral leukoplakia	ORPHA:342
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis	OMIM:614473
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Intellectual Disability-Strabismus Syndrome	Hypospadias, Micrognathia, Short neck, Abnormality of the dentition, Wide mouth, High palate, Thi...	ORPHA:363528
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati...	OMIM:612462
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Chronic kidney disease, Acute kidney injury, Exercise-in...	ORPHA:284426
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Hypoglyc...	OMIM:210200
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Microscopi...	OMIM:274150
Hawkinsinuria	Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Thick lower lip vermilion, Dental malocclusion, W...	OMIM:300519
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Renal salt wasting	OMIM:614736
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l...	ORPHA:33001
Odontochondrodysplasia 1	Delayed eruption of teeth, Biconvex vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Sco...	OMIM:184260
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	OMIM:207900
Codas Syndrome	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho...	ORPHA:1458
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever...	OMIM:619736
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Thin upper lip vermilion, Cystathioninuria, Methylmalonic aciduria, High palate, Stoma...	OMIM:277380
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot...	OMIM:607426
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria, Hypoglycemia	OMIM:606054
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Schimke Immunoosseous Dysplasia	Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage...	OMIM:242900
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Minimal change glomerulonephritis, Sho...	ORPHA:1830
Alkaptonuria	Intervertebral disk calcification, Aminoaciduria, Nephrolithiasis	ORPHA:56
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Micrognathia, Protruding tongue, High, narrow palate, Macroglossia, Albuminuria, Ami...	OMIM:214100
Wagro Syndrome	Mandibular prognathia, Proteinuria, Dental crowding, Micrognathia, Malar flattening, Nephroblastoma	OMIM:612469
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati...	OMIM:103580
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Hypoalbuminemia, Scoliosis, Premature loss of teeth, Enamel hyp...	OMIM:610965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Micrognathia, Kyphosis, Nephroblastoma, Enlarged kidney	OMIM:618272
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria	ORPHA:289157
Ruvalcaba Syndrome	Dental crowding, Kyphosis, Abnormal localization of kidney, Hematuria, Thin vermilion border, Sco...	ORPHA:3121
Harderoporphyria	Increased urinary porphobilinogen, Red urine, Increased circulating ferritin concentration, Incre...	OMIM:618892
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Increase...	ORPHA:79644
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Abnormal dental enamel morphology, Ope...	ORPHA:10
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Enamel hypoplasia, Type I diabetes mellitus	OMIM:240300
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ...	OMIM:606812
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D...	OMIM:203500
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip vermilion, Macroglossia,...	ORPHA:583
Pearson Syndrome	Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria, Medi...	ORPHA:699
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Macroglossia, Highly elevated crea...	OMIM:251900
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypoglycemia, Micrognathia, Tooth agenesis, Micro...	ORPHA:633
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Cervical kyphosis, Abnormal dental enamel...	ORPHA:666
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Intraalveolar phosp...	OMIM:222700
Gaisböck Syndrome	Diabetes mellitus, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating reni...	ORPHA:90041
Mitochondrial Complex I Deficiency, Nuclear Type 26	Lacticaciduria	OMIM:618247
Corticosteroid-Binding Globulin Deficiency	Decreased urinary potassium	OMIM:611489
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid...	OMIM:246450
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi...	ORPHA:411536
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Hypoalbuminemia, Renal dysplasia, Micrognathia	OMIM:618183
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Short neck, Heparan sulfate excretion in urine, Kyphosis, Thick lower ...	OMIM:309900
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci...	OMIM:620300
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Scorpion Envenomation	Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M...	ORPHA:466677
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Nephrocalcinosis, Downturned corners of mouth, Widely spac...	ORPHA:79500
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine, Elevated circulating creatine kinase concentration, Hypoketotic h...	ORPHA:228305
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Scoliosis, Vesicoureteral ref...	ORPHA:2484
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal t...	ORPHA:904
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o...	OMIM:253010
Glycogen Storage Disease Vii	Hematuria, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:232800
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis	ORPHA:254854
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Cleft uppe...	OMIM:161200
Sialidosis Type 2	Nephropathy, Kyphosis	ORPHA:87876
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hypoglycemia, Generalized aminoaciduria, Elevated circulating alpha-fetoprotein ...	OMIM:251880
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Narrow mouth, Renal insufficiency, Long philtrum, Mild proteinuria	OMIM:619147
Pseudoxanthoma Elasticum	Nephrocalcinosis, High palate, Scoliosis	ORPHA:758
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Hurler-Scheie Syndrome	Micrognathia, Heparan sulfate excretion in urine, Kyphosis, Dermatan sulfate excretion in urine, ...	OMIM:607015
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormal...	ORPHA:2916
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyp...	OMIM:617140
Spondyloenchondrodysplasia	Delayed eruption of teeth, Proteinuria, Kyphosis, Chronic kidney disease, Dental malocclusion, He...	ORPHA:1855
Gaucher Disease Type 1	Proteinuria, Kyphosis, Hematuria, Gingival bleeding, Vertebral compression fracture	ORPHA:77259
Fabry Disease	Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria	OMIM:301500
Cockayne Syndrome Type 1	Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation	OMIM:615486
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Williams-Beuren Syndrome	Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kid...	OMIM:194050
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Hypoplasia of the maxilla, Persistence o...	ORPHA:2044
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Elevated creatine kinase after exercise, H...	ORPHA:159
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Oral ulcer, Hematuria, Nephrotic syndrome, Abnormal...	ORPHA:93552
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Elevated circul...	ORPHA:116
Glycogen Storage Disease Ia	Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce...	OMIM:232200
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Abnormality of the tongue, Urinary urgency, H...	ORPHA:556
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Hyperlordosis, R...	ORPHA:568
Familial Hypoaldosteronism	Decreased urinary potassium, Increased circulating renin level, Proximal renal tubular acidosis, ...	ORPHA:427
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Increased circulating renin level	ORPHA:556037
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Thi...	ORPHA:2614
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Lacticaciduria, Elevated urine a...	OMIM:615751
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H...	ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Red-brown urine, Stage 5 chronic kidney disea...	ORPHA:157
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Short neck, Nephrotic syndrome, Focal segmental glomerulosclerosis, Macroglossia, Th...	OMIM:617303
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio...	OMIM:201475
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Leigh Syndrome	Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dy...	ORPHA:506
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	ORPHA:352447
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Ves...	OMIM:130650
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Urinary incontinence, Scoliosis	OMIM:614409
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Stage 5 chronic kidney disease, Nephrotic...	OMIM:617729
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Increased circulating renin level	ORPHA:556030
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Carious teeth, Organic aciduria, High palate, Long philtrum, Smooth phi...	OMIM:620191
Hypocomplementemic Urticarial Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:36412
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Ovoid vertebral bodies	OMIM:260400
Cystic Fibrosis	Chronic sinusitis, Hypercalciuria	OMIM:219700
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:77297
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t...	ORPHA:85443
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc...	ORPHA:71212
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos...	ORPHA:261494
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96263
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Micrognathia, Short neck, Kyphosis, Abnormality...	ORPHA:3409
Joubert Syndrome 18	Kyphoscoliosis, Renal cyst, Horseshoe kidney, Cleft palate, Lobulated tongue, Retrognathia	OMIM:614815
Aspartylglucosaminuria	Mandibular prognathia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Gingi...	ORPHA:93
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Glycogen Storage Disease Ib	Proteinuria, Hypoglycemia, Nephrolithiasis, Oral ulcer, Focal segmental glomerulosclerosis, Decre...	OMIM:232220
Fucosidosis	Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae, Abnormality of the dentition	ORPHA:349
Hyperlysinemia	Argininuria, Cystinuria, Decreased urine alpha-ketoglutarate concentration, Hyperlysinuria, High ...	ORPHA:2203
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Micrognathia, Short neck, Scoliosis, Long philtrum, Medullary nephrocalcinosis	OMIM:618947
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Glutaric Aciduria Iii	Glutaric aciduria	OMIM:231690
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Dental malocclusion, High palate, Scoliosis,...	ORPHA:2115
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Fused cervical vertebrae, Cortical nephrocalcinosis, Medulla...	ORPHA:51608
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Gingival ove...	ORPHA:137834
Adrenal Hypoplasia, Congenital	Renal salt wasting	OMIM:300200
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Micrognathia, Insulin-resistant diabetes mellitus, Fasting hyp...	ORPHA:79474
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Downturned corners of mouth, Kyphosis, Urinary incontinence, Scoliosis	ORPHA:464282
Emanuel Syndrome	Broad jaw, Recurrent urinary tract infections, Sacral dimple, Dental crowding, Unilateral renal a...	OMIM:609029
Aspartylglucosaminuria	Aspartylglucosaminuria, Kyphosis, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mo...	OMIM:208400
Trisomy 8P	Sacral dimple, Short neck, Fetal pyelectasis, Cleft palate, Nephrocalcinosis, Bifid uvula, Thin v...	ORPHA:264450
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Lumbar kyphosi...	ORPHA:505248
Hellp Syndrome	Back pain, Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Hall-Riggs Syndrome	Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,...	OMIM:234250
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio...	ORPHA:2429
3M Syndrome	Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n...	ORPHA:2616
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Kyphoscoliosis, Hypoplasia of the maxilla, Nephrocalcinos...	OMIM:617402
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Kyphosis, Narrow palate, Short upper lip, Short philtrum, Thick vermilion ...	ORPHA:364028
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Increased circulating ferritin concentration	OMIM:194380
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Renal insufficiency, Oliguria	ORPHA:220393
8P Inverted Duplication/Deletion Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Abnorm...	ORPHA:96092
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Abnormal dental enamel morphology, Abnormali...	ORPHA:96169
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:616471
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology...	ORPHA:2750
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria, Malar flattening	OMIM:222448
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia	OMIM:615453
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Sacral dimple, Dental crowding, Unilateral renal agenesis, ...	ORPHA:96170
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Renal hypop...	ORPHA:819
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Downturned corners of mouth, Thin vermilion border, Sh...	ORPHA:2983
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Legionnaires Disease	Hematuria, Renal insufficiency, Proteinuria	ORPHA:549
Ck Syndrome	Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,...	OMIM:300831
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormality of th...	ORPHA:2315
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, St...	OMIM:232240
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Ectopic kidney, Gingival overgrowth, Horseshoe kidney, Retrognathia, N...	OMIM:235510
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A...	OMIM:305620
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia	OMIM:609015
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Increased circulating ferritin concentration, Argi...	ORPHA:470
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Hypoglycemia	OMIM:231670
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Sinusitis, Oliguria, Hematuria	ORPHA:727
Floating-Harbor Syndrome	Thin upper lip vermilion, Hypospadias, Kyphoscoliosis, Short neck, Carious teeth, Glandular hypos...	OMIM:136140
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Malar flattening, Retrognathia, Homocystinuria, Bifid uvula	OMIM:601552
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of pri...	OMIM:610253
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Micrognathia, Abnormality of the dentition, Kyphosis, Erup...	ORPHA:476126
Imerslund-Gräsbeck Syndrome	Glossitis, Proteinuria, Angular cheilitis	ORPHA:35858
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu...	OMIM:124000
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Kyphosis, Non-midline cleft lip, Cleft p...	ORPHA:2075
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:255125
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Micropenis, High palate, Short philtrum	OMIM:615433
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Hypoalbuminemia, Lacticaciduria	OMIM:613070
Fetal Akinesia Deformation Sequence 4	Micrognathia, Short neck, Kyphosis, High palate, Retrognathia	OMIM:618393
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Abnormality of the ur...	ORPHA:2311
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis	OMIM:112350
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Urinary incontinence, Short neck, Kyphosis, Cleft palate, Downturned corners o...	OMIM:301041
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Wide mouth, Polycystic kidney dysplasia, Long philtrum	OMIM:608776
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Proteinuria, Ectopic kidney, Sh...	OMIM:122470
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output	ORPHA:542323
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious t...	OMIM:311200
Amish Lethal Microcephaly	Organic aciduria, Cleft soft palate, Micrognathia	ORPHA:99742
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Elevated circulating creatinine concentration, Acute kidney in...	OMIM:235400
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Kyphosis, Dental malocclusion, Short philtrum, Sc...	ORPHA:2471
Winchester Syndrome	Kyphosis, Gingival overgrowth	OMIM:277950
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion in urine, Hyp...	OMIM:253220
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Hypercalciuria	OMIM:181000
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental maloccl...	ORPHA:61
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Increased urinary potassium	ORPHA:231580
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria	ORPHA:247691
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria	ORPHA:79086
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Unilateral renal agenesis, Micrognathia, Kyphosis, Deep philtrum, Sh...	OMIM:619951
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Thin upper lip vermilion	OMIM:609384
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Platyspondyly, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Trisomy 13	Median cleft lip, Abnormality of the dentition, Kyphosis, High, narrow palate, Abnormality of the...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrome, Proximal tubulop...	OMIM:212065
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Lassa Fever	Back pain, Oliguria	ORPHA:99824
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Open bite, Abnormality of dental eruption, Dental malocclus...	ORPHA:1327
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis	ORPHA:1858
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Increased insulin like growth factor binding protein acid labile subun...	OMIM:619489
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria	OMIM:253270
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Micrognathia, Wide mouth, Nephroti...	OMIM:251300
Agel Amyloidosis	Tongue atrophy, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Holocarboxylase Synthetase Deficiency	Organic aciduria	ORPHA:79242
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Narrow mouth, Nephrotic syndrome, Focal segmental glomeruloscle...	OMIM:614748
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati...	ORPHA:94089
Ramon Syndrome	Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma...	ORPHA:3019
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, High, narrow palate, Kyphosis, Thick lower lip vermilion, Elevated urinary epineph...	OMIM:162300
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Microdontia, ...	OMIM:619718
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Abnormal form of...	ORPHA:2067
Cdkl5-Deficiency Disorder	Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis	ORPHA:505652
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria	ORPHA:431361
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa...	OMIM:171400
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver...	ORPHA:261318
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Increased urinary potassium	ORPHA:231625
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Xeroderma Pigmentosum	Craniofacial hyperostosis, Aminoaciduria, Abnormality of the dentition	ORPHA:910
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum	ORPHA:2598
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria	ORPHA:395
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Oral ulcer, Cheilitis, Hematuria, Abnormal pigmentation of ...	ORPHA:536
Hemorrhagic Fever-Renal Syndrome	Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating ...	ORPHA:340
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Scoliosis, Narrow mouth, Malar flattening, ...	OMIM:613849
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Kyphosis, Abnormal palate m...	ORPHA:3082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Hypospadias, Kyphosis, Thick lower lip vermilion, Wide mouth, Macroglossia...	OMIM:300354
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr...	ORPHA:2035
Sarcoidosis	Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephri...	ORPHA:797
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury	ORPHA:423
Congenital Arthrogryposis With Anterior Horn Cell Disease	Micrognathia, Short neck, Kyphosis, High palate, Scoliosis, Retrognathia	OMIM:611890
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Tongue fasciculations, Narrow mouth	OMIM:620007
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Cleft upper lip, Abnormality of...	ORPHA:915
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Kyphosis, Scoliosis, Micropenis, Retrognathia...	OMIM:615547
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Kyphoscoliosis, Dental malocclusion, Irregular vertebral endplates, Pl...	OMIM:612350
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:616878
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seizur...	ORPHA:361
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Distal Triplication 15Q	Abnormality of the kidney, Micrognathia, Kyphosis, Dilatation of the renal pelvis, Horseshoe kidn...	ORPHA:314588
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Carious teeth, Insulin resistance, Thin ...	OMIM:214150
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Methylmalonic Aciduria, Cbla Type	Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level...	OMIM:251100
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma...	OMIM:101800
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior...	OMIM:253200
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Scoliosis, Long philtrum	OMIM:618825
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Combined Oxidative Phosphorylation Deficiency 19	Lacticaciduria	OMIM:615595
Marden-Walker Syndrome	Hypospadias, Short neck, Micrognathia, Kyphosis, High, narrow palate, Renal hypoplasia, Cleft pal...	OMIM:248700
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ...	ORPHA:261652
Hurler Syndrome	Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process, Kyphosis, Gin...	OMIM:607014
Glycogen Storage Disease Xii	Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Sh...	OMIM:611881
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Short neck, Deep philtrum, Uraciluria, High palate, Open mouth, Retrog...	ORPHA:1675
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria	OMIM:251110
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Nephrolithiasis, De...	ORPHA:521445
Carpenter Syndrome 1	Sacral dimple, Hydroureter, Short neck, Micrognathia, Hypoplasia of the maxilla, Persistence of p...	OMIM:201000
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe...	ORPHA:181
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Malar prominence, Micrognathia, Kyphosis, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Kyphosis, Carious teeth, Vertebral segmentation defect, Scoliosis, Abnor...	ORPHA:2617
15Q24 Microdeletion Syndrome	Hypospadias, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Abnormal palate m...	ORPHA:94065
Odontochondrodysplasia	Delayed eruption of teeth, Platyspondyly, Scoliosis, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,...	ORPHA:79240
Zimmermann-Laband Syndrome 3	Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula	OMIM:618658
Immunoglobulin A Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:761
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Micrognathia, Kyphosis, Cleft lip, Spinal canal sten...	ORPHA:1724
Cholera	Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury	ORPHA:173
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlordosis, Glutaric aciduri...	ORPHA:26791
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Pycnodysostosis	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Persistence of primary t...	OMIM:265800
Multiple Endocrine Neoplasia Type 1	Gingival fibromatosis, Hypercalciuria, Nephrolithiasis	ORPHA:652
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Hyperlordosis, Micrognathia, Kyphosi...	ORPHA:763
Shashi-Pena Syndrome	Thin upper lip vermilion, Hypoglycemia, Unilateral renal agenesis, Kyphosis, Scoliosis, Cervical ...	OMIM:617190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Congenital Muscular Dystrophy, Ullrich Type	Elevated circulating creatine kinase concentration, Spinal rigidity, Micrognathia, Kyphosis, Shor...	ORPHA:75840
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Kyphosis, Nephrolithiasis, Glucose intolerance, Biconcave vertebral b...	OMIM:219090
Bardet-Biedl Syndrome 20	Micropenis, Proteinuria	OMIM:619471
Systemic Sclerosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevated circula...	ORPHA:90291
Sotos Syndrome	Mandibular prognathia, Abnormality of the kidney, High, narrow palate, Narrow jaw, Narrow palate,...	OMIM:117550
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Scolio...	OMIM:615834
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Glomerulopathy, Insulin resistance, Diabetes mellitus	ORPHA:2348
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:615290
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc...	ORPHA:289
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Long penis, Nephrolithiasis, Gingival overgrowt...	OMIM:135500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Kyphosis	OMIM:610489
Alstrom Syndrome	Renal insufficiency, Abnormality of the dentition, Kyphosis, Insulin-resistant diabetes mellitus,...	OMIM:203800
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Short neck, Protruding tongue, Gin...	OMIM:259775
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Renal agenesis, Hypospadias, Kyphoscoliosis,...	OMIM:301040
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Kyphosis, Cleft palate, Furrowed tongue, High palate, Sh...	OMIM:616449
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Thick vermilion border, High palate, Short philtrum...	OMIM:615866
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused th...	ORPHA:97360
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Horseshoe kidney, Cleft palate, Hi...	OMIM:300867
Cockayne Syndrome A	Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario...	OMIM:216400
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,...	OMIM:272460
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Long penis, Increased urinary 11-deoxycorticosterone level, Re...	ORPHA:90795
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Short neck, Renal hypoplasia/aplasia, Kyphosis, Micrognathia, H...	ORPHA:958
Gitelman Syndrome	Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Insulin resist...	ORPHA:358
Micro Syndrome	Hypoplasia of penis, Micrognathia, Kyphosis, Abnormal localization of kidney, High palate, Short ...	ORPHA:2510
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec...	ORPHA:31826
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intolerance, Narrow mouth, Type...	OMIM:606721
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Increased circulating renin level, Neon...	ORPHA:90791
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney	ORPHA:2655
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria	OMIM:616457
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp...	ORPHA:2461
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth...	OMIM:619229
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna...	OMIM:619148
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Holoprosencephaly	Hypoplasia of penis, Median cleft lip, Proteinuria, Bilateral cleft lip, Hypoglycemia, Short neck...	ORPHA:2162
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Hyperlordosis, Short neck, Dental malocclusion, ...	OMIM:612921
Cockayne Syndrome B	Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario...	OMIM:133540
Lead Poisoning	Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Delayed eruption...	ORPHA:330015
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Fasting...	ORPHA:264580
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Elevated circulating creatinine concentration, Acute kidney injury	ORPHA:90038
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Micrognathia, Kyphosis, Cleft lip, Dental malocclusion, Gingival overg...	OMIM:616894
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis	OMIM:617768
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft ...	OMIM:130720
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Long philtrum, Hydronephrosis	ORPHA:85201
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent median palatal r...	OMIM:300602
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, A...	ORPHA:2785
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Autism Spectrum Disorder Due To Auts2 Deficiency	Micrognathia, Kyphosis, Short philtrum, Scoliosis, Narrow mouth, Retrognathia	ORPHA:352490
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
3C Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Micrognathia, Kyphosis, High, narrow palate, Hemive...	ORPHA:7
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Abnormality of the kidney	ORPHA:93274
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Short neck	OMIM:612463
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Abnormality of the urina...	OMIM:230500
Aymé-Gripp Syndrome	Thin upper lip vermilion, Proteinuria, Cleft palate, Oligodontia, Scoliosis, Narrow mouth, Long p...	ORPHA:1272
Melas	Diabetes mellitus, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Type II...	ORPHA:550
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Scoliosis	ORPHA:404454
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat...	ORPHA:900
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Dental crowding, Carious teeth, Kyphosis, Downturned corners of mouth, Thin vermilio...	OMIM:617602
Mandibuloacral Dysplasia Progeroid Syndrome	Proteinuria, Elevated hemoglobin A1c, Micrognathia, Intra-oral hyperpigmentation, Focal segmental...	OMIM:619127
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Urinary incontinence, Scoliosis	ORPHA:88644
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Narrow mouth...	ORPHA:77301
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Hyperlordosis, Carious teeth, ...	OMIM:190350
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis	OMIM:300676
Acrootoocular Syndrome	Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Grayish enamel, High, narrow palate, Sup...	ORPHA:2980
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Thick vermilion bor...	OMIM:300280
Acute Adrenal Insufficiency	Renal insufficiency, Hypoglycemia, Decreased urinary potassium, Renal salt wasting, Increased cir...	ORPHA:95409
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Scoliosis, Persistence of primary teeth	OMIM:147060
Sjögren-Larsson Syndrome	Kyphosis, Abnormal dental enamel morphology, Scoliosis	ORPHA:816
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Recurrent aphthous stomatitis	ORPHA:728
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Thick lower lip vermilion, Hematuria, Nephrotic...	ORPHA:324
Sandhoff Disease	Kyphosis	ORPHA:796
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border	OMIM:616455
Hypomelanosis Of Ito	Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis	OMIM:300337
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Scoliosis, Hypoplastic philtrum	OMIM:616682
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Cleft upper lip, Kyphosis, C...	OMIM:610443
Infection-Related Hemolytic Uremic Syndrome	Anuria, Diabetes mellitus, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased ...	ORPHA:544482
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Micrognathia, Kyphosis, High palate, Short philtrum, Malar flattening	OMIM:609944
Pelizaeus-Merzbacher Disease	Kyphosis, Abnormality of the urinary system, Scoliosis	ORPHA:702
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Kyphoscoliosis, Abnormal form of the vertebral bodies, Scoliosis, Long...	ORPHA:263463
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati...	ORPHA:79444
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Micrognathia, Cleft palate, P...	OMIM:247200
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Widely spaced primary teeth, ...	ORPHA:90322
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Citrullinemia, Classic	Oroticaciduria	OMIM:215700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Hypoplas...	OMIM:211380
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat...	OMIM:300373
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp...	OMIM:146510
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Cleft p...	ORPHA:2635
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentration, Myoglobinu...	ORPHA:94093
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Anterior concavity of tho...	OMIM:309350
Osteoglosphonic Dysplasia	Micrognathia, Abnormal form of the vertebral bodies, Tooth agenesis, Multiple unerupted teeth, Sc...	ORPHA:2645
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Submucous cleft hard...	ORPHA:2780
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Kyphosis, Narrow mouth, Abnormal mandible morphology, Cleft palate, Down...	ORPHA:2215
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis	OMIM:259440
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:300861
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
19P13.12 Microdeletion Syndrome	Hypospadias, Short neck, Kyphosis, Cleft palate, Thin vermilion border, Hypodontia, Scoliosis, Lo...	ORPHA:254346
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1782
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Kyphosis, Abnormal fo...	ORPHA:2050
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia	OMIM:614450
Beta-Ketothiolase Deficiency	Hyperglycemia, Ketonuria, Hypoglycemia	ORPHA:134
Cranioectodermal Dysplasia 1	Renal magnesium wasting, High, narrow palate, Chronic kidney disease, Stage 5 chronic kidney dise...	OMIM:218330
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Renal hypoplasia, Renal cyst, Cle...	OMIM:616300
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Mildly ele...	ORPHA:536516
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoglycemic seizures	ORPHA:480864
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Myofibrillar Myopathy 10	Mandibular prognathia, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:619040
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short neck, Open bite, Kyphosis, Thick lower lip vermilion, Wide mouth, High...	ORPHA:85293
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Ectopic k...	ORPHA:2136
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Camurati-Engelmann Disease	Delayed eruption of teeth, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial osteosclerosis, A...	ORPHA:1328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ma...	OMIM:606612
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Short neck, Kyphosis, Type II diabetes mellitus, Scoliosis, Microdontia	ORPHA:3191
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetoprotein concentra...	OMIM:619991
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti...	OMIM:157980
Rhizomelic Syndrome, Urbach Type	Micrognathia, Short neck, Kyphosis, Abnormality of the tongue, Abnormal form of the vertebral bod...	ORPHA:3098
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced er...	ORPHA:818
Crisponi Syndrome	Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum	ORPHA:1545
Wieacker-Wolff Syndrome	Hyperlordosis, Micrognathia, Kyphosis, Short neck, High palate, Broad alveolar ridges, Scoliosis,...	OMIM:314580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Short neck...	ORPHA:1798
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con...	ORPHA:319213
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt...	ORPHA:1507
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Scoliosis, Long p...	OMIM:230740
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, High palate, Scoliosis, Short neck	ORPHA:178148
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Hype...	OMIM:612651
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Kawasaki Disease	Glossitis, Proteinuria, Cheilitis, Sterile pyuria	ORPHA:2331
Postinfectious Vasculitis	Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria...	ORPHA:48435
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Flynn-Aird Syndrome	Carious teeth, Kyphosis, Type II diabetes mellitus, Scoliosis	ORPHA:2047
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Abnormal form of ...	ORPHA:3238
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Micrognathia, Kyphosis, Cleft palate, Scoliosis, ...	ORPHA:140
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Kyphosi...	ORPHA:85199
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria...	ORPHA:168558
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Kyphosis...	ORPHA:464738
Opitz Gbbb Syndrome	Natal tooth, Hypospadias, Micrognathia, Cleft lip, Cleft palate, Vertebral segmentation defect, A...	ORPHA:2745
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria...	ORPHA:289548
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Oroticaciduria	OMIM:620358
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Increased intervertebral space, Absent fron...	OMIM:224300
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis	OMIM:618484
4Q21 Microdeletion Syndrome	Short neck, Abnormality of the dentition, Kyphosis, Downturned corners of mouth, Thin vermilion b...	ORPHA:238750
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure	ORPHA:90051
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Spinal ca...	ORPHA:950
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, High, narrow palate, Scoliosis	OMIM:618124
Short Syndrome	Delayed eruption of teeth, Micrognathia, Insulin resistance, Insulin-resistant diabetes mellitus,...	OMIM:269880
Colchicine Poisoning	Renal insufficiency, Oliguria	ORPHA:31824
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria	OMIM:311250
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Sacrococcygeal teratoma, Hypospadias, Kyphoscoliosis, Short neck, Micr...	ORPHA:798
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Malar flattening, Scoliosis	OMIM:130060
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Short neck, Micrognathia, High palate, Pursed...	ORPHA:800
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Biotinidase Deficiency	Organic aciduria	OMIM:253260
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis	ORPHA:3085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Diabetes mellitus, Dental crowding, Micrognathia, Kyphosis, Insulin resistance, Scoliosis, Narrow...	OMIM:615381
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Deep phil...	OMIM:619194
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Kyphosis, High palate, Everted lower lip vermilion, Scoliosis, Narr...	ORPHA:261349
Helsmoortel-Van Der Aa Syndrome	Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Hyperlordosis, Car...	OMIM:615873
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Hypospadias, Micrognathia, Abnormality of the dentition...	ORPHA:235
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Tented upper lip vermilion, Diabetes mellitus, Gingival overgrowth, High palate, Moderate albumin...	OMIM:614231
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Micrognathia, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Short neck, Hypoplasia of the maxi...	OMIM:166250
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cervical C5/C6 vertebrae f...	OMIM:101200
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti...	ORPHA:2563
Myopathy, Centronuclear, 2	Kyphosis, High palate, Scoliosis, Hyperlordosis	OMIM:255200
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney	ORPHA:1860
Stickler Syndrome, Type I	Micrognathia, Kyphosis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Platysp...	OMIM:108300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Methylma...	ORPHA:79282
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Posterior wedging of vertebra...	OMIM:607812
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati...	ORPHA:79443
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Insulin resistance, Eruption failure, Hypodontia...	OMIM:619322
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent urinary tract infections, Hypospadias, Dental crowding, Carious teeth, Sup...	ORPHA:353281
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Hypospadias, Micrognathia, Carious teeth, Velopharyngea...	OMIM:223370
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Scoliosis, Persistence of primary teeth	OMIM:619752
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Increased circulating ferritin concentration, Dilatation of the ...	OMIM:619534
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Short hard palate	ORPHA:1393
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis, Urinary incontinence	OMIM:616482
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Thick lower lip vermilion, Hors...	ORPHA:1465
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Insulin resistance, Hypoglycemia, Micrognathia	ORPHA:73272
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl...	OMIM:123790
Cdags Syndrome	Hypospadias, Rectourethral fistula, Kyphosis, Cleft palate, Malar flattening	OMIM:603116
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Kyphosis, Scoliosis	ORPHA:1883
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyph...	OMIM:618443
Diastrophic Dysplasia	Micrognathia, Kyphosis, Abnormal form of the vertebral bodies, Cleft palate, Scoliosis, Hypoplast...	ORPHA:628
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi...	OMIM:615084
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Short neck, Renal hypoplasia, Lobulated tongu...	OMIM:269860
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Micrognathia, Oliguria, Stage 5 chronic ...	ORPHA:731
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho...	ORPHA:171436
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Dental crowding, Micrognathia, Kyphosis, Oligodontia, High palate, Shor...	OMIM:617061
Teeth Present At Birth	Natal tooth	OMIM:187050
Pitt-Hopkins Syndrome	Short neck, Tooth malposition, Wide mouth, Thick vermilion border, Short philtrum, Scoliosis, Fai...	ORPHA:2896
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Micrognathia, Kyphosis, Deep philtrum, Cleft palate, Downturned corners...	ORPHA:404440
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, 3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia	ORPHA:20
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Fountain Syndrome	Craniofacial hyperostosis, Kyphosis, Thick lower lip vermilion, Gingival overgrowth, Abnormal for...	ORPHA:3219
15Q14 Microdeletion Syndrome	Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S...	ORPHA:261190
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Micrognathia, Kyphosis, Dental malocclusion, Cl...	OMIM:265000
Addison Disease	Hypoglycemia, Decreased urinary potassium, Renal salt wasting, Increased circulating renin level,...	ORPHA:85138
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Cleft palate, Short philtrum, Advanced erupt...	ORPHA:949
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Kyphosis, High, narrow p...	OMIM:119600
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Micrognathia, Supernumerary toot...	OMIM:619525
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ...	ORPHA:2250
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Urinary retention, Mildly elevated creatine kinase, Decreased urinary...	ORPHA:79102
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Kyphosis, Abnormal ...	ORPHA:2769
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Hajdu-Cheney Syndrome	Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent frontal sinuses, Open...	ORPHA:955
Lysosomal Acid Lipase Deficiency	Hypernatriuria, Abnormal urine potassium concentration, Renal salt wasting	ORPHA:275761
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Hypospadias, Dental crowding, Kyphoscoliosis, Ectopic kidney, Kyphosis, Th...	ORPHA:3063
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, High, narrow palate, Scoliosis	ORPHA:2181
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, K...	ORPHA:90324
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cl...	OMIM:280000
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi...	ORPHA:2789
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Ruvalcaba Syndrome	Kyphosis, Dental crowding, Scoliosis	OMIM:180870
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Urinary retention, Dental crowding, Delayed eruption of primary teeth	OMIM:617799
Desbuquois Dysplasia 1	Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Narrow mouth, M...	OMIM:251450
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elevated circulating creatine kinase concentration	OMIM:618138
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Scoliosis, Ethylmalonic aciduria, Aciduria	OMIM:203700
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Autosomal Recessive Spastic Paraplegia Type 35	Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna	ORPHA:171629
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip verm...	ORPHA:261144
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, High palate, Scolio...	OMIM:620351
Poland Syndrome	Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Short nec...	ORPHA:2911
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Hydroureter, Hypospadias, Ect...	OMIM:135900
Arthrogryposis, Distal, Type 5	Kyphosis, High palate, Scoliosis	OMIM:108145
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, Hyperlordosis, High, narrow palate, Supernum...	OMIM:234100
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Scoliosis	ORPHA:2314
Gaucher Disease	Hematuria, Proteinuria, Gingival bleeding, Elevated circulating C-reactive protein concentration	ORPHA:355
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ...	ORPHA:2062
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Epispadias, Supernumerary toot...	OMIM:615948
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Micrognathia, Kyphosis, High palate, Thick vermilion border, Scoliosis, Micropenis	OMIM:619005
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Thin upper lip vermilion, Natal tooth, Renal agenesis, Short neck, Mic...	OMIM:249000
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Mandibular prognathia, Hypospadias, Abnormal dental enamel morphology,...	ORPHA:2658
Osteogenesis Imperfecta, Type Iii	Micrognathia, Kyphosis, Scoliosis, Biconcave vertebral bodies, Dentinogenesis imperfecta	OMIM:259420
Yellow Fever	Low back pain, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, E...	ORPHA:99829
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Hypoplastic f...	OMIM:607326
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Increased urinary glycerol, Ketonuria, Elevated circulating alpha-fetoprotein c...	ORPHA:247598
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtru...	ORPHA:1519
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Abnormality of the kidney, Abnormality of the philtrum, Cleft upper l...	ORPHA:280
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incontinence, Thick lower l...	ORPHA:404448
Mend Syndrome	Microretrognathia, Sacral dimple, Micrognathia, Kyphosis, High palate, Crossed fused renal ectopi...	OMIM:300960
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Dilatation of the renal pelvis, Absent uvula, Micrognathia	OMIM:619708
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Scoliosi...	OMIM:311300
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Hemivertebrae, Horse...	ORPHA:138
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Micrognathia, Kyphosis, Scoliosis, Spina bifida occulta	OMIM:618291
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosi...	ORPHA:93357
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne...	ORPHA:464311
Acromegaly	Mandibular prognathia, Broad jaw, Diabetes mellitus, Dysuria, Abnormality of the dentition, Kypho...	ORPHA:963
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Cleft lip, Cleft palate, Micropenis	OMIM:617925
Ullrich Congenital Muscular Dystrophy 1	Spinal rigidity, Kyphosis, High palate, Scoliosis, Mildly elevated creatine kinase	OMIM:254090
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosi...	ORPHA:98863
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Ureteral obstruction, Kyphosis, Bladder divert...	OMIM:304150
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky...	ORPHA:98855
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Neonatal hypoglycemia, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypern...	ORPHA:90794
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Dental c...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Dental c...	ORPHA:353277
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia	OMIM:617802
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc...	OMIM:300166
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Oligodontia	ORPHA:324737
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Orofacial cleft, Scoliosis	ORPHA:79107
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Urinary incontinence, Scoliosis	OMIM:619482
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, Kyphosis,...	ORPHA:193
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Supernumerary too...	OMIM:268400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Gingival over...	OMIM:259600
Pelger-Huet Anomaly	Kyphosis, Abnormality of the dentition, Median cleft palate, Gingival overgrowth	OMIM:169400
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Cleft upper...	ORPHA:828
Prader-Willi Syndrome	Thin upper lip vermilion, Carious teeth, Kyphosis, Hyperinsulinemia, Downturned corners of mouth,...	OMIM:176270
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Cole-Carpenter Syndrome 2	Microretrognathia, Kyphosis, Platyspondyly, High palate, Dentinogenesis imperfecta	OMIM:616294
Cornelia De Lange Syndrome	Delayed eruption of teeth, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia...	ORPHA:199
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Micropenis, Scoliosis	ORPHA:500055
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne...	ORPHA:464306
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky...	ORPHA:98853
Gm1 Gangliosidosis	Mandibular prognathia, Hyperlordosis, Kyphosis, Gingival overgrowth, Abnormal form of the vertebr...	ORPHA:354
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Diabetes mellitus, Dysuria, Abnormality of the dentition, Kypho...	ORPHA:314769
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:609008
Marinesco-Sjogren Syndrome	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:248800
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Spina bifida occulta, Dental ma...	OMIM:305600
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Sacrococcygeal teratoma, Hypospadias, Abnormality of t...	ORPHA:821
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, High palate, Malar flatten...	ORPHA:457359
Crimean-Congo Hemorrhagic Fever	Proteinuria, Elevated circulating creatine kinase concentration, Hematuria, Gingival bleeding, Pa...	ORPHA:99827
16Q24.3 Microdeletion Syndrome	Micrognathia, Kyphosis, Wide mouth, Thick vermilion border, High palate, Scoliosis, Long philtrum...	ORPHA:261250
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Proteinuria, Kyphoscoliosis, Insulin resistance,...	ORPHA:79318
Restrictive Dermopathy 1	Ureteral duplication, Natal tooth, Hypospadias, Kyphoscoliosis, Micrognathia, Submucous cleft har...	OMIM:275210
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615108
Megalocornea-Intellectual Disability Syndrome	Micrognathia, Kyphosis, High palate, Short philtrum, Scoliosis, Everted lower lip vermilion, Open...	ORPHA:2479
Wiedemann-Rautenstrauch Syndrome	Wide penis, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Vesicouret...	ORPHA:3455
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Elevated circulating creatine kinase concentration	ORPHA:466650
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular ...	OMIM:143095
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Kyphosis, Downturned corners of mouth, Type II diabetes mellitus, Scoli...	ORPHA:398069
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Codas Syndrome	Delayed eruption of teeth, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar sc...	OMIM:600373
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615109
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyph...	OMIM:223800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis	ORPHA:1005
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Sacral dimple, Hypospadias, Abnormal dental morphology, Hyper...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Sacral dimple, Hypospadias, Abnormal dental morphology, Hyper...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Delayed eruption of teeth, Dental...	OMIM:619503
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Long uvula, Diabetes mellitus, Kyphoscoliosis, Micrognathia, K...	ORPHA:536532
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Sacral dimple, Hypospadias, Cleft soft palate, Unilateral ren...	ORPHA:268261
De Barsy Syndrome	Delayed eruption of teeth, Kyphoscoliosis, Narrow mouth, High palate, Small, conical teeth	ORPHA:2962
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long...	OMIM:619244
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Short neck, Micrognathia, Long penis, Hypopl...	OMIM:264090
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Immunodeficiency 49	Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Incontinentia Pigmenti	Delayed eruption of teeth, Kyphoscoliosis, Conical tooth, Hemivertebrae, Oligodontia, Hypodontia	OMIM:308300
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Restrictive Dermopathy	Ureteral duplication, Thoracic kyphoscoliosis, Natal tooth, Hypospadias, Micrognathia, Submucous ...	ORPHA:1662
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Insulin resistance	ORPHA:199276
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Gingival overgrowth, Alveolar ridge overgrowth, Widely spaced teeth, S...	OMIM:301072
Cowden Syndrome	Abnormal penis morphology, Abnormality of the kidney, Kyphosis, Furrowed tongue, Macroglossia, Re...	ORPHA:201
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Oral mucosal blisters, Renal tubular epithelial necrosis, Hem...	ORPHA:95455
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ...	ORPHA:881
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Insulin resistance, Diabetes mellitus, Micrognathia	ORPHA:280365
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Thoracic scoliosis, Prominence of the premaxilla, Irregular dentitio...	OMIM:602535
Osteogenesis Imperfecta, Type Iv	Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Scoliosis, Micropenis, Hyd...	OMIM:606170
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:158350
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, Ver...	ORPHA:251014
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
Rett Syndrome	Kyphosis, Scoliosis, Abnormality of the dentition	OMIM:312750
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261537
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Diabetes mellitus, Carious teeth, Oral ulcer, Hypoamylasemi...	ORPHA:811
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te...	ORPHA:2152
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Craniofacial osteosclerosis, Plat...	OMIM:618476
Jaberi-Elahi Syndrome	Kyphosis, Triangular mouth, Scoliosis	OMIM:617988
Lacrimoauriculodentodigital Syndrome 1	Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221016
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Hyperinsulinemia, Dow...	OMIM:620185
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis	OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Sacral dimple, Short neck, Kyphosis, High, narrow pa...	OMIM:300966
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Thin upper lip vermilion, Hypospadias, Kyphosis, High, narrow palate, Short uvula, Abn...	OMIM:619475
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis	OMIM:266270
Noonan Syndrome 14	Short neck, Kyphosis, High, narrow palate, Wide mouth, Thick vermilion border, Long philtrum	OMIM:619745
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Kyphosis, Thick vermilion border, Scoliosis	OMIM:618493
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Malar...	OMIM:271700
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221008
Postencephalitic Parkinsonism	Kyphosis, Open mouth, Camptocormia	ORPHA:97349
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,...	OMIM:249420
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Micrognathia, Malar flattening, Hyperglycemia	OMIM:220111
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Hypospadias, Cleft upper lip, Micrognathia, Kyphosis, Abnormal f...	OMIM:194190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormal dental e...	ORPHA:2273
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Accessory...	ORPHA:672
Occipital Horn Syndrome	Recurrent urinary tract infections, Kyphosis, High, narrow palate, Bladder diverticulum, Platyspo...	ORPHA:198
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Platyspondyly, Long philtrum, Malar flattening	ORPHA:50945
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High palate, High, narrow palate, Scoliosis	OMIM:177850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Smooth philtrum	OMIM:617527
Osteogenesis Imperfecta, Type Viii	Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta	OMIM:610915
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Smooth philtrum	ORPHA:521426
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth	OMIM:300942
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Cleft upper lip, ...	OMIM:113620
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Thoracic scoliosis, Natal tooth, Micrognathia, Carious ...	OMIM:620186
Alexander Disease	Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis	ORPHA:58
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Submucous cleft hard palate, C...	OMIM:235730
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Kyphosis, Spinal canal stenosis, Ren...	ORPHA:1606
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Retrognathia, High palate, High, narrow palate	OMIM:616914
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
Weaver Syndrome	Mandibular prognathia, Kyphosis, Scoliosis, Long philtrum, Retrognathia	OMIM:277590
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, Kyphosis, High palate, Scoliosis, Lo...	OMIM:278250
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Cleft lip, Cleft palate, Micrognathia	OMIM:619123
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Cleft lip, Hemivertebrae, Narrow palate, Cleft palate, Scoliosis	OMIM:618223
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Downturned corners of mouth, Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:619557
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Kyphoscoliosis, High, narrow palate, Kyphosis, Wide mouth, Short philtrum, Widel...	OMIM:300967
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Kyphosis, High palate, Scoliosis, Narrow mouth	OMIM:618050
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening	OMIM:617011
Mgat2-Cdg	Kyphosis, Open mouth, Dental crowding, Scoliosis	ORPHA:79329
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Rett Syndrome, Congenital Variant	Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:613454
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth	ORPHA:508542
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Coffin-Lowry Syndrome	Mandibular prognathia, Kyphosis, Thick lower lip vermilion, Dental malocclusion, Narrow palate, L...	OMIM:303600
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, H...	OMIM:601803
Proteus Syndrome	Abnormal dental enamel morphology, Carious teeth, Kyphosis, Long penis, Renal cyst, Abnormal form...	ORPHA:744
Wrinkly Skin Syndrome	Delayed eruption of teeth, Kyphoscoliosis, Carious teeth, High palate, Small, conical teeth, Smoo...	ORPHA:2834
17Q11 Microdeletion Syndrome	Kyphosis, Renovascular hypertension, Abnormality of the sphenoid sinus, Abnormality of the verteb...	ORPHA:97685
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Marfan Syndrome	Dental crowding, Micrognathia, Open bite, Kyphosis, High, narrow palate, Abnormal zygomatic bone ...	ORPHA:558
Lymphedema-Distichiasis Syndrome	Kyphosis, Cleft palate, Cleft upper lip, Micrognathia	OMIM:153400
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Neurofibromatosis Type 1	Kyphosis, Scoliosis, Abnormality of the upper urinary tract	ORPHA:636
Classic Homocystinuria	Kyphosis, High palate, Dental crowding, Scoliosis	ORPHA:394
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Mend Syndrome	Sacral dimple, Asymmetry of the mouth, Micrognathia, Kyphosis, Cleft palate, High palate	ORPHA:401973
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Short hard palate, Scoliosis	ORPHA:1969
Viss Syndrome	Microretrognathia, Cleft soft palate, Micrognathia, Kyphosis, High, narrow palate, Retrognathia, ...	OMIM:619472
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Scoliosis, ...	OMIM:182250
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Functional abnormality of ...	ORPHA:64
Shprintzen Omphalocele Syndrome	Kyphosis, Thin vermilion border, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth	ORPHA:667
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis, Thin upper lip vermilion	ORPHA:2232
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Primrose Syndrome	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Hypoplasia of the maxill...	OMIM:259050
Mucolipidosis Type Ii	Kyphosis, Gingival overgrowth	ORPHA:576
Yunis-Varon Syndrome	Thin upper lip vermilion, Hypospadias, Anterior concavity of thoracic vertebrae, Premature loss o...	OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An...	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clcn5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clcn5.

No publications found that use IMPC mice or data for Clcn5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Clcn5^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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