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Gene: Ins2 MGI:96573

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulin II
Synonyms:
Mody4,  InsII,  Ins-2,  Mody

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 Ins2 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.

The table below shows human diseases associated to Ins2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885

The table below shows human diseases predicted to be associated to Ins2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
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
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Autoimmunity, Reactive hypoglycemia, Insulin-resistant diabetes mellitus... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity, Delayed puberty ORPHA:140941
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Hyperglycemia, Polydipsia, Polyphagia OMIM:222100
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... ORPHA:276575
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Hy... ORPHA:263455
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Obesity And Hypopigmentation
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Stage 5 chron... OMIM:617575
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Essential Fructosuria
Hyperglycemia ORPHA:2056
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Insulin resistance, Microscopic hematuria, Hepatic ste... ORPHA:79087
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Nephrogenic diabetes insipi... ORPHA:213
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Hypergon... OMIM:614963
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay, Irritability, Lethargy, Polydipsia, Diabetes insipidus ORPHA:30925
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:232700
Manganese Poisoning
Decreased female libido, Akinesia, Aggressive behavior, Hypersexuality, Abnormality of mitochondr... ORPHA:306682
Cataract 47
Glycosuria OMIM:612018
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride... ORPHA:2088
Glucose/Galactose Malabsorption
Failure to thrive, Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Hostility, We... ORPHA:399
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Central Diabetes Insipidus
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus, N... ORPHA:178029
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Schaaf-Yang Syndrome
Thick eyebrow, Failure to thrive in infancy, Short stature, Impulsivity, Inability to walk, Kypho... OMIM:615547
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... OMIM:520000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Bardet-Biedl Syndrome 9
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polydipsia,... OMIM:615986
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Jaundice, Nephro... OMIM:613404
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... ORPHA:369873
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... ORPHA:398079
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Short stature, Highly arched eyebrow, Abnormal repeti... ORPHA:228402
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Periglomerular fibrosis, Tubular l... OMIM:619468
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Abnormal circulating insulin co... ORPHA:293964
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98754
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98793
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetos... OMIM:300438
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight OMIM:618347
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... ORPHA:93111
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177904
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177901
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... OMIM:608709
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R... ORPHA:363400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... ORPHA:398069
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Myasthenia Gravis
Hyperthyroidism, Anti-acetylcholine receptor antibody positivity, Primary adrenal insufficiency, ... ORPHA:589
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe failure to th... OMIM:246200
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Increased circulating free T4 concentration, Small for gestational age, Anti-t... OMIM:274300
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Short stature, Kyphosis, Attention deficit hyperactivity disorder, Failure to thrive, Hyp... OMIM:620007
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Depression, Gait dist... ORPHA:352470
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridem... OMIM:610717
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Intrahepatic cholestasis, Hypercalciuria... OMIM:227810
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Fas... ORPHA:769
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st... ORPHA:436182
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Jaund... ORPHA:525731
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Insulin re... OMIM:615980
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia... OMIM:137920
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture,... ORPHA:206546
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive OMIM:230400
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Short statu... ORPHA:177910
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Postencephalitic Parkinsonism
Camptocormia, Akinesia, Diminished movement, Kyphosis, Depression, Bradykinesia, Dysphagia, Abnor... ORPHA:97349
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mell... OMIM:560000
Perry Syndrome
Akinesia, Weight loss, Bradykinesia, Depression, Inappropriate behavior, Disinhibition, Short ste... OMIM:168605
Renal Hypoplasia, Bilateral
Short stature, Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Rena... ORPHA:97362
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Irritability, Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Irritability, Polydipsia, Fa... OMIM:125800
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... ORPHA:453533
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity, Akinesia OMIM:618822
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Hypercalcemia, Infantile, 1
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... OMIM:143880
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Scoliosis, Intrau... ORPHA:994
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb... ORPHA:240094
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Enteric Anendocrinosis
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Dysphagia, Urinary urgency, Scoliosis, Attention deficit hyper... ORPHA:99013
Parathyroid Carcinoma
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:143
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in femal... ORPHA:528
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Short stature, Kyphosis, Increased serum serotonin, Hir... ORPHA:85288
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Obesity, Inappropriate laughte... ORPHA:411515
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Akinesia, Decreased activity of mitochondrial res... OMIM:619147
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:28
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Abnorm... ORPHA:320
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... ORPHA:168558
X-Linked Acrogigantism
Increased body mass index, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level,... ORPHA:300373
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
East Syndrome
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... ORPHA:199343
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... ORPHA:739
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration OMIM:614265
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration ORPHA:79159
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Depression, Glucose intolerance, Progr... ORPHA:411590
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Congenital contracture, Gait disturbance, Scoliosis, Dysphagia, Hy... OMIM:618578
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Primary hyperparath... OMIM:239200
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:99880
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... ORPHA:261229
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... OMIM:176270
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Intrauter... OMIM:618958
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Short stature, Anorexia, Nephrogenic diabetes insipidus, Functi... ORPHA:223
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Gait ataxia, Left ventricular hypertrophy, Crouch gait, Failure to thrive OMIM:620145
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Decreased liver function, Dehydration OMIM:602199
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... ORPHA:86812
Placental Insufficiency
Insulin resistance, Antiphospholipid antibody positivity, Small for gestational age, Systemic lup... ORPHA:439167
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Idiopathic Copper-Associated Cirrhosis
Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Scoliosis, Short stepped ... ORPHA:391411
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, Failure to thrive, Exocrin... OMIM:616539
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Spastic/hyperactive bladder, Weight loss, Bradykinesia, Depression, Agitat... ORPHA:411602
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopa... OMIM:618228
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Bradykinesia, Gait disturbance, Dysphagia, Hypokinesia OMIM:606693
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypog... ORPHA:465508
Spinocerebellar Ataxia 21
Ataxia, Impulsivity, Aggressive behavior, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Wolfram Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysuria, Joint stiffness, Abnormal... ORPHA:3463
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Short stature, Renal salt wasting, Enuresis, Dysdiadochokinesis, ... OMIM:612780
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Kyphoscoliosis, Ab... ORPHA:3077
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D... ORPHA:361
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi... ORPHA:90065
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha... ORPHA:562
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Micropenis, Hypogonadism, Polydipsia OMIM:615994
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia, Proximal amyotrophy OMIM:604484
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Int... ORPHA:26792
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Whipple Disease
Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Depression, Arthritis... ORPHA:3452
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Acute pancreatitis, Lipodystrophy, ... OMIM:608594
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Insulin resistance, Insulin-resistan... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Gitelman Syndrome
Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Chondrocalcinosi... OMIM:263800
Rotor Syndrome
Bilirubinuria, Jaundice, Porphyrinuria, Intermittent jaundice, Storage in hepatocytes ORPHA:3111
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Dehyd... ORPHA:289504
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contracture OMIM:611225
Cln3 Disease
Ataxia, Aggressive behavior, Increased circulating androgen concentration, Bradykinesia, T-wave i... ORPHA:228346
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Craniosynostosis, Cryptorchidism, Camptodactyly of toe, Umbilical h... OMIM:175700
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Aggressive behavior OMIM:300894
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, B... OMIM:619063
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Frontotemporal Dementia
Irritability, Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Congenita... ORPHA:2260
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Waddling gait, Left atrial enlargement, E... OMIM:300280
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Athetosis, Hyperaldosteronism, ... ORPHA:369929
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Short stature, Dorsocervical fat pad, Short neck, Osteoporosis, ... OMIM:616033
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Hydronephrosis, Akinesia OMIM:607598
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Hypoglycem... ORPHA:369
Erdheim-Chester Disease
Renal insufficiency, Increased bone mineral density, Ataxia, Dysuria, Hypogonadotropic hypogonadi... ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... ORPHA:280365
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Acute pancreatitis, Lipodystrophy, ... OMIM:269700
Wilson Disease
Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, ... OMIM:277900
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Fructose Intolerance, Hereditary
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Jaundice, Bicarbonaturia,... OMIM:229600
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal c... ORPHA:18
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Renal salt wasting, Dehydration, Growth delay, Increa... OMIM:610600
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Enamel hypomineralization, B... ORPHA:47159
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia, Left ventricular hyper... OMIM:614458
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Broad-based gait, Lumbar hyperlordosis, Osteopenia, Exte... ORPHA:251028
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
Man1B1-Cdg
Broad-based gait, Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair whorl, Tru... ORPHA:397941
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Abnormal pancreas morphology, Limb ataxia, Gait ataxia, Hepa... ORPHA:48818
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Impulsivity, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imbalance ORPHA:240071
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Decreased body weight, Intra... OMIM:608013
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Kyphoscoliosis, Aggressive behavior, Organic aciduria, Scoliosis, Dysphagia, Hypokinesia OMIM:614707
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Retrobulbar optic neuritis, Obesity, Hyperglycemia OMIM:619737
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Vaginal neoplasm, Weight loss, Neopl... ORPHA:2126
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... ORPHA:358
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Pancreatitis ORPHA:79312
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Ty... OMIM:615812
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Macdermot-Winter Syndrome
Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H... OMIM:247990
Familial Cold Urticaria
Arthritis, Polydipsia, Hyperhidrosis ORPHA:47045
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In... OMIM:300942
Glycogen Storage Disease Ia
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... OMIM:232200
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Hypospadias, Akinesia OMIM:619334
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus ORPHA:225
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal tubulointerstitial morpho... ORPHA:411629
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone ... OMIM:618392
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Akinesia, Flexion contracture, Increased susceptib... OMIM:253290
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Hypoplastic female external genitalia, Agitation, Low ... OMIM:612469
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Recurrent fract... ORPHA:251004
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Urinary incontinence, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Irregular menstruation, Obesity, Advanced ossification of car... OMIM:616831
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... ORPHA:35878
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Trisomy 18P
Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Attention deficit hyperactivity d... ORPHA:1715
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Lipodys... OMIM:613327
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mit... OMIM:609060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Inability to walk, Flexion contracture, Skel... OMIM:613156
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo... OMIM:617671
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Hyperglycemia, Hepatomegaly, Alopecia, Lipodystrophy, Insulin-re... OMIM:248370
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Depression, Progressive cerebellar ataxia, Disinhibition, Dysp... ORPHA:275872
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Ataxia, Diabetes insipidus, Hypothyroidism, G... OMIM:222300
Necrotizing Enterocolitis
Shock, Small for gestational age, Peritonitis, Abnormal heart morphology, Bradycardia, Abnormal g... ORPHA:391673
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl... ORPHA:85285
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Growth... OMIM:231530
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Abnormal... ORPHA:1192
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... OMIM:251300
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Dehydration, Elevated se... ORPHA:556030
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Hyperglycin... OMIM:606054
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Hyperinsu... ORPHA:3085
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Abnormali... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 6
Irritability, Decreased activity of mitochondrial complex IV, Hypokinesia OMIM:300816
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Left ventricular hypertro... ORPHA:93952
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Kyphoscoliosis, Akinesia, Short neck, Flexion contracture, Elbow flexion contrac... OMIM:618947
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Dysmetria, Abnormal repetitive manner... ORPHA:96121
Gracile Syndrome
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Intrauterine... ORPHA:53693
Chronic Hiccup
Dehydration ORPHA:396
Chylous Ascites
Pancreatitis ORPHA:1160
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Short st... ORPHA:1667
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Tenorio Syndrome
Osteopenia, Joint laxity, Hypoglycemia, Enuresis, Gait disturbance, Scoliosis, Emotional lability... OMIM:616260
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Growth de... OMIM:243910
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Growth delay, Gait disturbance, Inappropriate laughter, Difficulty walking, ... ORPHA:505652
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Short stature, Impulsivity, Aggressive behavior, Contracture of t... OMIM:620141
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Hypoglycemia, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Kyph... ORPHA:48431
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Fair hair, Aggressive beh... ORPHA:72
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Congenital Myopathy 12
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand OMIM:612540
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Abnormality of the kidney, Scleros... ORPHA:166119
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Decreased activity of mitochondrial ATP synthase complex, Decreased ac... OMIM:610498
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, ... OMIM:251000
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility OMIM:618323
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Ataxia, Anorexia, Weight loss, Agitation, Oral aversion, H... ORPHA:134
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Short stature, Decreased response to growth hormone stimulation t... ORPHA:79444
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Dpagt1-Cdg
Hepatomegaly, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Inability to walk, Flexion co... ORPHA:86309
Short Syndrome
Joint laxity, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin res... OMIM:269880
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, ... OMIM:156200
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, ... ORPHA:352490
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Failure to thrive, Biliary atresia, ... OMIM:600001
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... OMIM:613845
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture, Small for gestational age OMIM:616733
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
German Syndrome
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, ... ORPHA:2077
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Abno... ORPHA:1875
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Bradykinesia, Akinesia OMIM:619911
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Small for gestational age, Polyuria, Short stature, Renal salt wast... OMIM:241200
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-picking, Prolonged n... OMIM:618512
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Image Syndrome
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, H... ORPHA:85173
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism, Hirsutism OMIM:300434
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology... ORPHA:2849
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul... ORPHA:79237
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251120
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Noonan Syndrome 8
Left ventricular hypertrophy, Ventricular septal defect, Large for gestational age, Mitral regurg... OMIM:615355
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Postnatal growth r... ORPHA:79303
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Corticobasal Syndrome
Bradykinesia, Gait disturbance, Akinesia ORPHA:454887
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Kyphoscoliosis, Ectopic kidney, Recurrent fractures, Inability to wal... ORPHA:3063
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Choreoathetosis, Truncal ataxia, Decreased activity of mitochondrial complex I, Failure... OMIM:618249
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Cryptorchidism, Obesity, Hypoplasia of the prostate, Scoliosis, Delayed ... OMIM:301900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypopitui... OMIM:619013
Pituitary Gigantism
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... ORPHA:99725
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short stature, Inability to walk, ... OMIM:616756
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... OMIM:615418
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ... OMIM:261750
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Glycogen Storage Disease Ib
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232220
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... ORPHA:169186
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Tip-toe gait, ... OMIM:617404
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Hyperactivity, Hypospadias, Short stature, Aggressive behavior, Kyphosis, Cryptorch... OMIM:300354
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature ORPHA:457050
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Sta... ORPHA:1830
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He... ORPHA:440713
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v... ORPHA:199276
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Scoliosis, Hypokinesia OMIM:618184
Tangier Disease
Hepatomegaly, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Facial diplegia, Distal ... OMIM:205400
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... ORPHA:79474
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure t... ORPHA:95427
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis OMIM:209010
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Phonic tics, Depression, Choreoathetosis, ... OMIM:234200
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... ORPHA:1606
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Sparse eyelashes, K... ORPHA:35173
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Kyphosis, Cryptorchidism, Frontal upsweep of hair, Scoli... OMIM:619797
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Lumbar hyperlordosis, Short stature, Cryptorchidism, Obe... OMIM:619185
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Hypospadias, Aggressive behavior, Unste... ORPHA:17
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... ORPHA:40
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Tyrosinemia, Type I
Renal insufficiency, Hypoglycemia, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis... OMIM:276700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Severe X-Linked Mitochondrial Encephalomyopathy
Irritability, Hypokinesia, Increased connective tissue ORPHA:238329
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Dehyd... OMIM:619377
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... OMIM:557000
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Flexion contracture, Difficulty walking, Dysphagia, Arthrogryposis m... ORPHA:171433
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Athetosis, Hypertension, Second degree atri... OMIM:615474
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Failure to thrive, Small for gestational age OMIM:214150
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Irritability, Scoliosis, Abnormal co... OMIM:300831
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Diffuse hepatic steatosis, Elevated hepati... OMIM:264470
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin ... ORPHA:813
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility, Adrenocortical adenoma ORPHA:681
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Unsteady gait, Loss of ability to walk in early childhood, Ataxia ORPHA:401866
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Dehydration, Delayed pu... OMIM:300200
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Short stature, Aggressive behavior, Kyphosis, Self-mutilation, Cryptorchidism, Scol... ORPHA:364028
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Dehydration, Renal salt wasting OMIM:203400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Joint contracture, Akinesia OMIM:225790
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Stage 5 chronic kidney disease, Foca... OMIM:242900
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Low posterior hairline ORPHA:1450
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hepatic... OMIM:615238
Cole Disease
Hyperglycemia OMIM:615522
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, De... OMIM:232240
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Failure to thrive, Renal cortical microcysts, Hydronephr... OMIM:214100
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Dehydration, Renal salt wasting OMIM:264350
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Irritability, Decreased activity of mitochondrial complex I, Intra... OMIM:618237
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-... OMIM:271530
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Vertebral segmentation defect, Sc... ORPHA:531151
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:617872
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Dysphagia, Polydipsia, Abn... ORPHA:537
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, 3-Methylglutaconic aciduria, Intrauterine ... OMIM:616271
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ... ORPHA:335
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... OMIM:615952
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Reduced bone... ORPHA:2617
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Hypospadias, Ataxia,... ORPHA:209905
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Obesity, Renal hypoplasia, Hypogonadism, Hepati... OMIM:615996
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement, Bradykinesia, Dysphagia ORPHA:240103
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Hypoglycemia, I... ORPHA:264580
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Short sta... OMIM:601678
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Short stature, Splenomegaly, Kyphosis, Flexion contracture... ORPHA:87876
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... OMIM:219080
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria, Short stature ORPHA:300536
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
African Trypanosomiasis
Urinary incontinence, Choreoathetosis, Hepatomegaly, Alopecia, Abnormality of the endocrine syste... ORPHA:3385
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Proportionate short statur... ORPHA:171876
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Growth delay, Scoliosis, Ca... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac... OMIM:614922
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotr... OMIM:278000
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Vertebral fusion, Hypospadias, Short stature, Abnormal de... ORPHA:96169
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Inability to walk, Cryptorchidism, Renal hypoplasia, Scoliosis, Dyspha... OMIM:618494
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Leprechaunism
Nephrocalcinosis, Recurrent infantile hypoglycemia, Increased circulating renin level, Fasting hy... ORPHA:508
Weaver Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Limited elbow extension, Fine hair, Hydrocele testis, ... OMIM:277590
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Pyruvate Carboxylase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Ataxia, Anorexia, Lacticaciduria, Growth delay, Ti... ORPHA:3008
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ataxia, Left ventricular systolic dysfunction, Dilated car... OMIM:619167
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia OMIM:609161
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Failure to thrive, Adrenal hypopl... ORPHA:95496
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Weight loss, Bradykinesia, Depression, Gait disturbance, Hy... ORPHA:157941
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Decreased response to growth hormone stimulation test, ... ORPHA:64
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Winchester Syndrome
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis OMIM:277950
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia OMIM:605407
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Dend Syndrome
Hyperglycemia, Autoimmune antibody positivity ORPHA:79134
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Elevated hepatic transamina... ORPHA:20
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Renal salt w... ORPHA:275761
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger... ORPHA:261349
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
Adnp Syndrome
Joint laxity, Sparse scalp hair, Recurrent urinary tract infections, Inguinal hernia, Short statu... ORPHA:404448
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... OMIM:617303
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Hyperhidrosis, Glycosuria, Hyperglycemia, Acute kidney injury ORPHA:466677
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abno... OMIM:209900
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enuresis nocturna, Pineal cyst, Compulsive... OMIM:615873
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, Bone cys... ORPHA:2047
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... OMIM:613070
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Lopes-Maciel-Rodan Syndrome
Kyphosis, Unsteady gait, Bruxism, Bradykinesia, Agitation, Scoliosis, Dysphagia, Abnormal repetit... OMIM:617435
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Alopecia, Abnormal hair patte... ORPHA:2315
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Dysuria, Anorexia, Hashimoto thyroiditis, Varicocele, Renovas... ORPHA:49041
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... OMIM:618805
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate OMIM:601198
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... ORPHA:71212
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:615290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Failure to thrive OMIM:102700
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Sc... OMIM:619518
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... ORPHA:209902
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria... OMIM:124000
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Short stature, Kyphoscoliosis, Postnatal growth retardation, Cryptorch... OMIM:612513
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Craniosynostosis, Large for gestational a... ORPHA:314588
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Decreased acti... OMIM:618234
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, ... OMIM:219090
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, De... OMIM:251100
Kleefstra Syndrome
Hypoplasia of penis, Synophrys, Renal cyst, Hernia, Vesicoureteral reflux, Micropenis, Abnormal r... ORPHA:261494
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Congenital ... OMIM:239850
Supranuclear Palsy, Progressive, 2
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:609454
22Q11.2 Duplication Syndrome
Urethral stenosis, Growth delay, Aplasia/Hypoplasia of the thymus, Attention deficit hyperactivit... ORPHA:1727
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Renal insufficiency, Thoracic scoliosis, Failure to thrive in infancy, Hypospadias, K... OMIM:611209
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Unsteady gait, Abnormal urinary odor, Gait disturbance, Dysphagia ORPHA:412217
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Inguinal hernia, Short stature, Small for gestational age, Highly arched eyebrow, ... OMIM:615834
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Left ventricular hypertrop... OMIM:619355
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97282
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Flexion contracture of finger, Small for gestational age, Hypo... ORPHA:464311
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Inability to walk, Kyphosis, Cryptorchidism, Scoliosis, Difficulty walking, Arthrogry... OMIM:611890
Distal Deletion 12Q
Ectopic kidney, Short neck, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mutilation, ... ORPHA:96149
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Recurrent fractures, Camptodactyly of finger, Short neck, Kyp... ORPHA:3409
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251110
Actinic Prurigo
Glomerulonephritis OMIM:174770
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Short neck, A... ORPHA:2083
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Spinocerebellar Ataxia Type 12
Ataxia, Unsteady gait, Bradykinesia, Gait disturbance, Limb dysmetria, Hypokinesia ORPHA:98762
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Hypoplasia of penis, Broad-based gait, Short stature, Cachexia, Aggressive behavio... ORPHA:85293
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Short neck... ORPHA:1834
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... OMIM:618935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Vacterl/Vater Association
Bifid scrotum, Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal... ORPHA:887
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Methylmalonic aciduria, Dysmetria, Decreased activity of mitochon... OMIM:615578
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Elevated circulating alanine aminotransferase conce... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Tub... ORPHA:85450
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Hyper... ORPHA:568
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Difficulty walking OMIM:617087
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Hypocholesterolem... ORPHA:71
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Gait disturbance, Scoli... ORPHA:2429
Werner Syndrome
Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Myocardial infarction, Telangiectasia of the... ORPHA:902
Bullous Pemphigoid
Diabetes mellitus, Autoimmunity, Weight loss ORPHA:703
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Enuresis, Hepa... ORPHA:247585
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Kyphosis, Obesity, Depression, Scoliosis ORPHA:276630
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dilated cardiom... OMIM:616541
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Micro Syndrome
Hypoplasia of penis, Short stature, Joint stiffness, Kyphosis, Cryptorchidism, Hypoplastic labia ... ORPHA:2510
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Gait ataxia, Bradykinesia, Irritability, Lethargy, Hypokinesia ORPHA:101150
Barth Syndrome
Fair hair, Abnormal mitochondrial morphology, Growth delay, 3-Methylglutaconic aciduria, Gait dis... OMIM:302060
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Adrenomyodystrophy
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Short stature ORPHA:977
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Urinary incontinence, Short stature, Absent pubertal growth spurt, Puberty... ORPHA:464282
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Supranuclear Palsy, Progressive, 1
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:601104
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptor... ORPHA:500055
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hep... OMIM:201475
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Kyphosis, Tongue thrusting, Gait ataxia, Growth delay, A... ORPHA:3095
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Diabetic ketoacidosis, Pneumonia ORPHA:70578
Reticular Dysgenesis
Dehydration ORPHA:33355
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Muscular Hypertonia, Lethal
Umbilical hernia, Hypokinesia OMIM:254120
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... ORPHA:195
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, ... ORPHA:64744
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Koolen-De Vries Syndrome
Vertebral fusion, Hyperactivity, Recurrent urinary tract infections, Small for gestational age, S... OMIM:610443
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... OMIM:613090
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti... ORPHA:228426
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Melas
Diabetes mellitus, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Type II... ORPHA:550
Monosomy 13Q34
Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic s... ORPHA:96168
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Abnor... ORPHA:1926
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated ... OMIM:608747
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Cry... ORPHA:90791
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Hypokinesia OMIM:616981
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620126
Short Stature, Dauber-Argente Type
Osteopenia, Short stature, Postnatal growth retardation, Fasting hyperinsulinemia, Reduced bone m... OMIM:619489
Lamellar Ichthyosis
Renal insufficiency, Short stature, Dehydration ORPHA:313
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Netherton Syndrome
Short stature, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis ORPHA:634
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... ORPHA:228305
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Dyrk1A-Related Intellectual Disability Syndrome
Abnormality of the cervical spine, Hyperactivity, Multiple joint contractures, Small for gestatio... ORPHA:464306
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Hypospadias, Decreased response to growth hormone stimul... ORPHA:94065
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Atrophic scars, Scoliosis OMIM:616471
Kleefstra Syndrome 2
Kyphosis, Growth delay, Self-injurious behavior, Scoliosis, Thick eyebrow OMIM:617768
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, Short stature, Kyphosis, Unsteady gait, Obesity, Scolios... OMIM:618124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Renal dysplasia, Hypoglycemia... OMIM:608836
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620125
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Re... ORPHA:1745
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Diabetes insipidus, Hydronephrosis, Hydroureter OMIM:598500
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Inguinal hernia, Small for gestational age, Hypospadias, Hypoglycemia, Dysmenorrhe... ORPHA:397590
Fanconi Anemia, Complementation Group O
Short stature, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal... OMIM:613390
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abnormal liver sonography, Autoimmune antibody positivity, Biliary tract abnor... ORPHA:90003
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... OMIM:500013
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Osteoporosis, Depression... ORPHA:189427
Fetal Akinesia Syndrome, X-Linked
Hypokinesia OMIM:300073
Kury-Isidor Syndrome
Sacral dimple, Alopecia, Short neck, Growth delay, Scoliosis, Attention deficit hyperactivity dis... OMIM:619762
Alstrom Syndrome
Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hepatomegaly, Decreased respons... OMIM:203800
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy, Right bu... OMIM:619322
Hypermanganesemia With Dystonia 2
Limb joint contracture, Inability to walk, Achilles tendon contracture, Scissor gait, Hyperhidros... OMIM:617013
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Attention deficit hyperac... OMIM:617854
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia ORPHA:230
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal... ORPHA:230851
Zttk Syndrome
Absent gallbladder, Curly hair, Broad eyebrow, Short stature, Polyuria, Unilateral renal agenesis... OMIM:617140
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... ORPHA:101330
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Abnormality of the ureter, Multiple renal ... ORPHA:3378
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Small for gestational age, Hypospadias, Fractured radius, Short neck, Multiple prenat... OMIM:616897
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Micr... OMIM:617156
Carpenter Syndrome 1
Omphalocele, Sacral dimple, Hydroureter, Short stature, External genital hypoplasia, Sagittal cra... OMIM:201000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Small for gestational age, Hypospadias, Short stature... OMIM:301056
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Bicuspid aortic valve, Increased hepato... OMIM:220111
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis, Highly arched eyebrow ORPHA:251076
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Achalasia, De... ORPHA:324
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Kyphoscoliosis, Short neck, Postnatal growth retardation, Sparse ey... OMIM:302960
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Short neck, Precocious puberty, Cryptorchidism, Synophrys, Frontal balding, Contract... ORPHA:96092
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II... ORPHA:3191
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Ataxia, Hydronephrosis OMIM:618060
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... ORPHA:576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Left ventricular h... OMIM:618321
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis, Dehydration ORPHA:35710
Masa Syndrome
Kyphosis, Short stature, Shuffling gait, Hyperlordosis OMIM:303350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... OMIM:615962
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate ... OMIM:256810
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis,... OMIM:615761
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Cryptorchidism, Depression, Joint hyperflexibility, Scoliosis, At... ORPHA:250989
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Jaundice, Chronic kidney disease, Hemoglobinur... ORPHA:447
Congenital Short Bowel Syndrome
Dehydration, Steatorrhea OMIM:615237
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Dehydration, Cirrhosis, Stea... OMIM:219700
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scolios... OMIM:618484
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level,... OMIM:210200
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Decreased calvarial ossification, Decreased body weight, Vesicou... OMIM:618265
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis ORPHA:412057
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Parkinson Disease 1, Autosomal Dominant
Depression, Urinary urgency, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, Loss of a... OMIM:168601
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Cryptorch... ORPHA:254346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Tip-to... OMIM:606612
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Hypokinesia OMIM:249650
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Anorexia, Hypersplenism, K... ORPHA:77259
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco... OMIM:313420
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Kyphosis, Gait ataxia, Dysphagia ORPHA:500180
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... ORPHA:2232
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency, Insulin-resistant diabetes mellitus, Type I diabetes mellitus,... OMIM:226980
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multicystic kidney ... ORPHA:2461
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Irritability, Fasting hypoglycemia, Decreased circ... ORPHA:159
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Chromosome 17Q12 Deletion Syndrome
Pica, Renal cyst, Multicystic kidney dysplasia, Short stature, Highly arched eyebrow, Sparse eyeb... OMIM:614527
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:615926
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephr... OMIM:267000
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis, De... OMIM:615433
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:101075
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... OMIM:619127
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidi... OMIM:301040
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short stature, Short neck, Postnatal growth retardation, Delayed epiph... OMIM:613320
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Severe Congenital Nemaline Myopathy
Hypospadias, Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Dysph... ORPHA:171430
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Short neck, Urethral stenosis, Flexion contra... ORPHA:261290
Suleiman-El-Hattab Syndrome
Inguinal hernia, Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Frontal hirsuti... OMIM:618950
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro... OMIM:234250
Congenital Tufting Enteropathy
Cholestatic liver disease, Dehydration, Steatorrhea ORPHA:92050
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Mild postnatal growth retardation, Ectopic kidney, Thyroid lymphangiectasia, Crypt... OMIM:235510
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Ataxia, Short stature, Postnatal growth retardation,... OMIM:616113
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Highly arched eyebrow, ... OMIM:618161
Zaki Syndrome
Sparse scalp hair, Sacral dimple, Renal agenesis, Short stature, Congenital diaphragmatic hernia,... OMIM:619648
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating as... OMIM:614921
Baralle-Macken Syndrome
Urinary incontinence, Inability to walk, Kyphosis, Obesity, Hirsutism OMIM:619255
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hemiverte... OMIM:220210
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Renal steatosis, Xanth... ORPHA:412
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Mcdonough Syndrome
Short stature, Cachexia, Kyphosis, Cryptorchidism, Synophrys, Scoliosis ORPHA:2471
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Jaundice,... ORPHA:912
6P22 Microdeletion Syndrome
Hydronephrosis, Hernia, Short neck ORPHA:251046
Glycogen Storage Disease Ixd
Hypoglycemia, Exercise-induced myoglobinuria OMIM:300559
Alpha-Mannosidosis
Hepatomegaly, Craniofacial hyperostosis, Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Art... ORPHA:61
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Dehydration OMIM:177735
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Small thenar eminence, Pulmonic st... OMIM:619148
Typical Nemaline Myopathy
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Gait di... ORPHA:171436
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Penile freckling ORPHA:210548
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Cryptor... ORPHA:96191
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent eyelashes, Scoliosis, Failure to thrive, Hydronephrosis, Stereotypical h... OMIM:619179
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Hyperlipidemia, Red-brown urine, Hepati... ORPHA:228308
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Urinary incontinence, Short neck, Inability to walk, Kyphosis, Fl... OMIM:301041
Noonan Syndrome 4
Ureteral duplication, Curly hair, Short stature, Short neck, Large for gestational age, Cryptorch... OMIM:610733
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Postnatal growth retardation, Cryptorchidism, Splenome... ORPHA:1655
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, Abnormal me... ORPHA:2953
Mucopolysaccharidosis, Type Iva
Waddling gait, Hepatomegaly, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Short neck, H... OMIM:253000
Gabriele-De Vries Syndrome
Waddling gait, Sparse eyebrow, Cryptorchidism, Tip-toe gait, Distal arthrogryposis, Frontal upswe... OMIM:617557
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, 3... ORPHA:445038
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Hypertrichosis ORPHA:85317
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Scoliosis, Hypokinesia OMIM:615042
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Long eyelashes, Faci... OMIM:618658
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Broad-based gait, Small scrotum, Aggressive behavior, Short neck, Hair... OMIM:620330
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Ruvalcaba Syndrome
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Limited elb... OMIM:180870
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:101078
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Hepatic steatos... OMIM:212138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Cryptorchidism, Hypothyroidism, Vertebral segmentation defect, Scol... ORPHA:453499
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Intellectual Disability, Buenos-Aires Type
Short stature, Spastic gait, Reduced bone mineral density, Hydronephrosis, Fine hair, Umbilical h... ORPHA:3079
Infantile Dystonia-Parkinsonism
Bradykinesia, Irritability, Hypokinesia ORPHA:238455
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Generalized hirsutism, Ataxia, Short stature, Hyperlordosi... ORPHA:354
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2322
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Difficulty... OMIM:618653
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Tr... ORPHA:444077
Marchiafava-Bignami Disease
Ataxia, Urinary incontinence, Aggressive behavior, Gait ataxia, Depression, Addictive alcohol use... ORPHA:221074
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Hyperaldosteronism, Polyhydramnios, Dehydration OMIM:214700
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Short stature, Short neck, Splenomegaly, Jaundice... OMIM:608779
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Abnormal localization of kidney, Hematuria, Scoliosis,... ORPHA:3121
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Abnormal ci... ORPHA:3453
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Waddling gait... ORPHA:93314
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
3C Syndrome
Hypoplasia of penis, Inguinal hernia, Hypospadias, Short stature, Adrenal hypoplasia, Short neck,... ORPHA:7
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Jaundice... ORPHA:79282
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... ORPHA:89938
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Hypospadias, Aggressive behavior, Sparse eyebrow, Inability t... ORPHA:464738
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Short stature, Highly arched eyebrow, Trichiasis, Renal hypo... OMIM:618460
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Melnick-Needles Syndrome
Omphalocele, Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the... ORPHA:2484
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... ORPHA:363958
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Unsteady gait, Growth delay, Irritability, Frontal upsweep of hair, Micropenis, H... OMIM:617798
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Abnormality of connective tissue, Addictive alcohol use, Rheumatoid... ORPHA:399180
Gm1-Gangliosidosis, Type Iii
Ataxia, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Kyphosis, Infertility, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spa... OMIM:614409
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Dysphagia ORPHA:397744
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Short stature ORPHA:52430
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Abnormal fallopian tube morphology, Camptodactyly of finger... ORPHA:99776
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Short stature, Camptodacty... ORPHA:2311
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... ORPHA:740
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Osteoporosis, ... OMIM:259450
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Joint stiffness, Kyphosis, Choreoa... ORPHA:702
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordosis, Inability to walk, K... OMIM:618443
Mosaic Trisomy 8
Decreased testicular size, Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Li... ORPHA:96061
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome... ORPHA:79259
Papa Syndrome
Type I diabetes mellitus, Proteinuria ORPHA:69126
Marinesco-Sjogren Syndrome
Ataxia, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Limb ataxia... OMIM:248800
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Type I diabet... OMIM:619525
Aromatic L-Amino Acid Decarboxylase Deficiency
Diminished movement, Tongue thrusting, Emotional lability, Choreoathetosis, Athetosis, Irritabili... OMIM:608643
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... ORPHA:549
Shigellosis
Hypoglycemia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Cholestasis, Dehydration, Hepat... ORPHA:810
Endove Syndrome, Limb-Brain Type
Joint laxity, Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Umbilical he... OMIM:619218
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Short stature, Supernumerary nipple, Congenital diap... OMIM:618454
Autosomal Recessive Spastic Paraplegia Type 20
Short stature, Dysuria, Spastic gait, Growth delay, Dysphagia, Emotional lability, Hydronephrosis... ORPHA:101000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Inability to walk, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Am... OMIM:617913
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Scoliosis... ORPHA:238750
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Homocystinuria, Hepatic steatosis, Pancreatitis OMIM:236200
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Cryptorchidis... ORPHA:628
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Epididymal cyst, Compulsive behaviors, Hypospadias, Sho... ORPHA:2044
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... ORPHA:99901
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... ORPHA:847
Pelvis-Shoulder Dysplasia
Waddling gait, Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic... ORPHA:2839
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Short neck, Hyperlordosis, Kyphosis, Precocious puberty, D... ORPHA:58
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nonimmune hydrops fetalis, Edema, Peric... OMIM:212065
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature, Increased urinary O-link... ORPHA:812
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H... OMIM:156530
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Moderate albuminuria, Obesity OMIM:614231
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Autoimmunity, Pituitary a... ORPHA:199299
Mitochondrial Complex I Deficiency, Nuclear Type 18
Decreased activity of mitochondrial complex I, Hydroureter, Hydronephrosis OMIM:618240
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Sacral dimple, Hypospadias, Short stature, Craniosynostosi... ORPHA:235
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Flexion contracture, Xerostomia, Osteolysis, Oliguria, Arthriti... ORPHA:220393
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Abnormal... OMIM:309000
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Autoimmunity, Portal hypertension, Hepatocellular carcinoma, Sp... ORPHA:171
Cockayne Syndrome Type 2
Hepatomegaly, Ataxia, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Male hypogonadism,... ORPHA:90322
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Intracranial hemorrhage, Acut... ORPHA:3226
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Autoimmune antibo... ORPHA:424
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Inability to walk, Kyphosis, Depression, Scoliosis, D... OMIM:128100
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... OMIM:616564
Autoimmune Polyendocrinopathy Type 3
Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, Autoimmune hy... ORPHA:227982
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Peritonitis, Dehydration, Hemoglobinuria, Acute kidney injury, Pancreatitis ORPHA:90038
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Anorexia, Hyperlordosis, Kyphosis, Splenomegaly, C... ORPHA:1328
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Camptodactyly of finger, Abnormal external genitalia, Aggressive behavior, Ectopic k... OMIM:607872
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Left ventricular hypertrophy, Ven... ORPHA:466791
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal mitochondrial shape, Dysphagia ORPHA:485421
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... OMIM:245600
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst... ORPHA:33001
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... ORPHA:2552
Opitz Gbbb Syndrome
Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Short stature, Trache... ORPHA:2745
Vici Syndrome
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... OMIM:242840
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridem... ORPHA:98908
Tetraploidy
Renal hypoplasia/aplasia, Radial club hand, Hydronephrosis, Intrauterine growth retardation, Apla... ORPHA:3305
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... ORPHA:3464
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria, Anorexia, Weight loss ORPHA:514
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Short stature, Decre... OMIM:146510
Au-Kline Syndrome
Sacral dimple, Thoracolumbar scoliosis, Supernumerary nipple, Sagittal craniosynostosis, Craniosy... OMIM:616580
Autoimmune Polyendocrinopathy Type 4
Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, Autoimmune th... ORPHA:227990
Rett Syndrome
Short stature, Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Scoliosis, Truncal ataxia,... OMIM:312750
Shashi-Pena Syndrome
Hypoglycemia, Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Synophrys, Osteoporosis... OMIM:617190
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Fasting hy... ORPHA:348
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism OMIM:300861
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Short stature, S... OMIM:115150
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Increased ur... ORPHA:100924
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Harlequin Ichthyosis
Dehydration ORPHA:457
Lassa Fever
Back pain, Menometrorrhagia, Jaundice, Oliguria, Dysphagia ORPHA:99824
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Breast aplasia ORPHA:90153
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retar... OMIM:255200
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Short neck, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly... OMIM:235255
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria, Decreased activity of mitochon... OMIM:618250
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... ORPHA:98907
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Short stature, Sparse scalp hair, C... ORPHA:85201
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Joint stiffnes... ORPHA:98855
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Joint hyperflexibility, Scol... ORPHA:2115
Tetrasomy 15Q26
Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydronephrosis OMIM:614846
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Gait disturbance, Hypertrichosis, Joint hyperflexibility OMIM:614898
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Reduc... ORPHA:2983
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Ataxia, Gait ataxia, Ambiguous genitalia, Failure to thrive, Clitor... ORPHA:543470
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis, Delayed puberty ORPHA:2598
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Short stature, Joint stiffness, Umbilical hernia, Metatarsal synosto... ORPHA:2496
Mucopolysaccharidosis, Type Ivb
Joint laxity, Hepatomegaly, Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Joint... OMIM:253010
Schwartz-Jampel Syndrome
Short neck, Low anterior hairline, Wrist flexion contracture, Generalized hirsutism, Abnormally o... ORPHA:800
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Jo... ORPHA:98863
Mucopolysaccharidosis Type 4
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish en... ORPHA:582
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Joint hyperflexibility ORPHA:319199
Trisomy 1Q
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia... ORPHA:261344
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Cryptorchid... ORPHA:2075
Takenouchi-Kosaki Syndrome
Inguinal hernia, Ataxia, Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse ey... OMIM:616737
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Cryp... ORPHA:3082
Desbuquois Dysplasia 1
Waddling gait, Joint laxity, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoarth... OMIM:251450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... ORPHA:353281
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Short neck, Postnatal growth retardation, Kyphosis, Cryptorchidism,... OMIM:248700
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Ketotic hypoglycemia, Dysmenorrhea, Hepatocellular carcinoma, Postna... ORPHA:79240
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Inguinal h... ORPHA:444072
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten... ORPHA:75840
Toluene Embryopathy
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Short stature, Proteinuria, Cryptorchid... ORPHA:534
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Inability to walk, Failure to thrive, Hydronephrosis ORPHA:488613
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long b... OMIM:269150
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Frontometaphyseal Dysplasia 1
Hydroureter, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion c... OMIM:305620
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Short stature, Hypospadias, Insulin-resi... ORPHA:2959
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Alg11-Cdg
Ataxia, Abnormal adipose tissue morphology, Scoliosis, Failure to thrive, Hypokinesia ORPHA:280071
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia OMIM:609015
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Vertebral... ORPHA:373
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Cholera
Abnormality of renal excretion, Hypoglycemia, Irritability, Lethargy, Acute kidney injury, Decrea... ORPHA:173
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Hydronephrosis OMIM:235760
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achille... OMIM:607155
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl... OMIM:620366
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... ORPHA:652
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hepatic steatosis, Cholestasis, Elevated circulating alanine aminotransferase co... OMIM:614300
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Scoliosis OMIM:610743
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Joint hypermobility, Aggressive behavior, Inability to walk, Phonic tics, Con... OMIM:616973
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivity, Activating t... ORPHA:99819
Poliomyelitis
Stiff neck, Anorexia, Diminished movement, Inability to walk, Irritability, Agitation, Dysphagia ORPHA:2912
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Inab... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Inab... ORPHA:352665
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypopla... ORPHA:3455
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Small for gestational age, Tricuspid regurgitation, Cardiomegaly, Pericar... ORPHA:555874
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Microphthalmia, Syndromic 9
Renal malrotation, Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic... OMIM:601186
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Ataxia, Poliosis OMIM:141300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas... OMIM:618272
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Joint stiffnes... ORPHA:261
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism ORPHA:263297
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Joint stiffnes... ORPHA:98853
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Hepatoblastoma, Micropenis, Streak ovary, Hypospadias, Sclerosis of skull... ORPHA:798
Desmoid Tumor
Limitation of joint mobility, Osteolysis, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Methanol Poisoning
Type I diabetes mellitus, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Hepatomegaly,... OMIM:253220
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, C... OMIM:300707
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism OMIM:300602
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Joint stiffness, Heparan s... OMIM:607015
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Inability to w... OMIM:617988
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Papill... OMIM:180849
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Hirs... OMIM:616455
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Ureteral agenesis, Abnormality of t... ORPHA:2437
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Ambiguous genitalia, Short stature, Recurrent fractures, Shor... ORPHA:140
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Supernumerary nipple, Short neck, Highly arched eyebrow, Growth delay, Gait disturbance, ... ORPHA:247262
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... OMIM:618476
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:99014
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal pineal m... ORPHA:69665
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Nephrotic... ORPHA:79327
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Smith-Mccort Dysplasia 1
Waddling gait, Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of t... OMIM:607326
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Craniosynostosis, Cryptorchidism, Growth delay, Hydronephrosis ORPHA:457193
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Flexion contracture, Hypokinesia OMIM:310400
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Decrea... OMIM:615084
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Short sta... ORPHA:289176
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow move... ORPHA:94068
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorch... OMIM:619718
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Broad-based gait, Uterine prolapse, Short stature, Abnormality of the e... ORPHA:438213
Srd5A3-Cdg
Ataxia, Decreased response to growth hormone stimulation test, Abnormal hair morphology, Kyphosis... ORPHA:324737
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Short stature, Ataxia, Kyphosis, Hypothyroidism, Joint hyperflexibility, Scoliosis, A... ORPHA:2479
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Joint laxity, Sacral dimple, Short stature, Abnormality of thyroid physiology, S... OMIM:300968
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Limb joint contracture, Hydronephrosis, Intrauterine growth retardation OMIM:620327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... OMIM:614080
Emanuel Syndrome
Recurrent urinary tract infections, Sacral dimple, Inguinal hernia, Unilateral renal agenesis, Co... OMIM:609029
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis ORPHA:816
Pycnodysostosis
Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Rhizo... ORPHA:763
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Cockayne Syndrome Type 3
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retarda... ORPHA:90324
Cardiofaciocutaneous Syndrome
Brittle hair, Failure to thrive in infancy, Short stature, Slow-growing hair, Short neck, Abnorma... ORPHA:1340
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria OMIM:620300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral b... ORPHA:2636
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Joint hyperflexibility, Gait disturbance, Scoliosis, Umbilical hernia ORPHA:2181
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... OMIM:207800
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Hepatic steatosis, Self-mutilation, Penoscr... OMIM:270400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused... ORPHA:2522
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Robinow Syndrome
Fused thoracic vertebrae, Decreased serum testosterone concentration, Multicystic kidney dysplasi... ORPHA:97360
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral ... ORPHA:818
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Violent behavior, Broad-based gait, Hepatomegaly, Inguinal hernia, ... OMIM:280000
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Aggressive behavior, Kyphosis, Synophrys, Gait ataxia, Attention deficit hy... ORPHA:476126
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... ORPHA:2771
Jacobsen Syndrome
Multicystic kidney dysplasia, Inguinal hernia, Short stature, Short neck, Cryptorchidism, Abnorma... ORPHA:2308
Pseudoachondroplasia
Waddling gait, Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odont... OMIM:177170
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocarditis, Peritonit... ORPHA:73263
Brain Malformations With Or Without Urinary Tract Defects
Inguinal hernia, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis OMIM:613735
Charge Syndrome
Bifid scrotum, Hemivertebrae, Abnormality of bone mineral density, Compulsive behaviors, Vesicour... ORPHA:138
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Biliary ... OMIM:613610
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Kyphosis, Cryptorchidism, Long eyelashes, Attention deficit ... OMIM:619005
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Autoimmunity, Retroperitoneal fibros... ORPHA:449432
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Renal tubular epithelial necrosis, Euphoria, Renal tubular dysfuncti... ORPHA:31826
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Postnatal growth retardation,... ORPHA:83617
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Short stature, Tarsal synostosis, Renal hypopla... ORPHA:2473
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Mitochondrial hypertrophy OMIM:602541
Tarp Syndrome
Broad-based gait, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Scoliosis, Intrauterin... ORPHA:2886
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Increased urinary glycerol, Hypercholeste... ORPHA:247598
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Gait ataxia, Compulsive behaviors, Spi... OMIM:135900
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Hep... OMIM:188400
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hyperlordosis, Increased connective tissue, Inability to walk, Flexion contracture, Dysphagia, Sc... ORPHA:258
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Thoracic hemivertebrae, Micrope... OMIM:268310
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys... ORPHA:93360
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Joint contracture of the... OMIM:214110
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... OMIM:618050
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... OMIM:606812
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Waddling gait, Ureteral duplication, Endometrial carcinoma, Aggressive behavior, Inability to wal... ORPHA:457212
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... ORPHA:183
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... OMIM:183900
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Unilateral renal agenesis, Supernumerary nipple, H... OMIM:619951
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Dehydration, Myoglobinuria, Acu... ORPHA:94093
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, Short neck, Reduced bone mineral density, Glucose intolerance, Hepati... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Ectopic kidney, Short neck, Reduced bone mineral density, Glucose intolerance, Hepati... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, Short neck, Reduced bone mineral density, Glucose intolerance, Hepati... ORPHA:99226
Turner Syndrome
Osteopenia, Ectopic kidney, Short neck, Reduced bone mineral density, Glucose intolerance, Hepati... ORPHA:881
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Hypospadias, Kyphosis, Scoliosis, Sparse hair, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Unilateral renal agenesis, Adrenal hypoplasia, Flexion contracture, Hydr... OMIM:308050
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to t... OMIM:608776
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Kyphosis, Splen... OMIM:230500
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... OMIM:618329
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi... OMIM:254090
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Ataxia, Oral-pharyngeal dysphagia, Short neck, Kyphosis, Postnatal gro... OMIM:300966
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture ORPHA:85193
Encephalocraniocutaneous Lipomatosis
Alopecia, Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydrone... OMIM:613001
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... ORPHA:353277
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial... ORPHA:470
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Aggressive behavior, Kyphosis, Synophrys, Low anterior hairline, Self-injurious be... OMIM:617061
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Short neck, Synophrys, Hypertrophy of the urinary bladder, Unilateral renal dysplasi... ORPHA:280633
White-Kernohan Syndrome
Joint laxity, Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Rectovagin... OMIM:619426
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Disproportionate sho... ORPHA:583
3Mc Syndrome 1
Omphalocele, Sacral dimple, Supernumerary nipple, Highly arched eyebrow, Postnatal growth retarda... OMIM:257920
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Telangiect... ORPHA:125
Alg9-Cdg
Omphalocele, Hypoplasia of the bladder, Hepatomegaly, Rhizomelia, Ureteral hypoplasia, Hepatic cy... ORPHA:79328
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis OMIM:112350
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Polyhydramn... OMIM:261515
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Hydronephrosis, Sex reversal, Go... OMIM:154230
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone ... OMIM:259050
Fucosidosis
Hepatomegaly, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacch... ORPHA:349
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Floating-Harbor Syndrome
Joint laxity, Inguinal hernia, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, ... OMIM:136140
Thanatophoric Dysplasia
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint... ORPHA:2655
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short statur... OMIM:239000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Kyphosis, Low anterior... OMIM:619244
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Tarsal synostosis, Brittl... ORPHA:2750
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Omphalocele, Inguinal hernia, Postnatal growth retardation, Flexion contracture, Um... ORPHA:254528
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Visceral Myopathy 1
Pancreatitis, Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Pelvic kidney, Abnormal repetitive mannerisms, Hypospad... OMIM:619522
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Omphalocele, Ectopic pancreatic tissue, Hypospadias, Renal a... OMIM:229850
Baller-Gerold Syndrome
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... ORPHA:1225
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Cousin Syndrome
Rhizomelia, Short neck, Disproportionate short stature, Prominent protruding coccyx, Humeroradial... OMIM:260660
Otopalatodigital Syndrome Type 2
Carpal synostosis, Omphalocele, Increased bone mineral density, Hypospadias, Tarsal synostosis, C... ORPHA:90652
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Short neck, Joint stiffness, Highly arched e... ORPHA:2995
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Omphalocele, Hydroureter, Renal agenesis, Bi... OMIM:258040
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Short stature, Hypoglycemia, P... OMIM:613658
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Elbow flexion contracture OMIM:618138
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hyp... OMIM:619991
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Joi... ORPHA:314585
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis OMIM:252605
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... OMIM:133540
Staphylococcal Necrotizing Pneumonia
Lethargy, Diabetes mellitus, Addictive alcohol use, Increased circulating procalcitonin concentra... ORPHA:36238
Poland Syndrome
Duplicated collecting system, Diabetes mellitus, Hypospadias, Congenital diaphragmatic hernia, Re... ORPHA:2911
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures ORPHA:3454
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Ca... OMIM:609128
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Limitation of joint mobi... ORPHA:3098
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Attention deficit hyperac... ORPHA:404440
Developmental And Epileptic Encephalopathy 28
Hypokinesia OMIM:616211
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Umbil... ORPHA:137834
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Hemive... OMIM:271520
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Hyperhidros... ORPHA:1545
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... OMIM:216400
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip... OMIM:101200
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Failure to thrive, Wrist flexio... OMIM:609465
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia OMIM:610965
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormality of the cervical spine, Sacral dimple, Lumbar hyperlordosis, Hepatomegaly, Limited elb... ORPHA:508533
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cach... ORPHA:3380
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel morphology, Abnormality o... ORPHA:2916
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Abnormal verteb... ORPHA:821
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine... OMIM:162300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of... ORPHA:1883
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Sacral dimple, Camptodactyly of finger, Alopec... ORPHA:1507
Cockayne Syndrome
Dry hair, Urinary incontinence, Progressive gait ataxia, Congenital contracture, Hepatomegaly, At... ORPHA:191
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Short ne... ORPHA:2059
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... OMIM:620351
Trisomy 8P
Sacral dimple, Multiple joint contractures, Short neck, Cryptorchidism, Fetal pyelectasis, Annula... ORPHA:264450
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Inguinal hernia, Cryptorchidism, Urachus fistul... OMIM:612541
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis ORPHA:565612
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Tricuspid regurgitation, Small for ges... OMIM:612289
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Inguinal hernia, Short stature, Short neck, Kyphosis, Crypt... OMIM:130720
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Heparan sulfate excretion in urine, Hyp... OMIM:607014
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morpholo... OMIM:314390
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Neonatal hypoglycemia, Renal salt wasting, L... ORPHA:90794
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Inflammatory a... ORPHA:900
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Colchicine Poisoning
Renal insufficiency, Oliguria, Dehydration ORPHA:31824
Tarp Syndrome
Horseshoe kidney, Athetosis, Intrauterine growth retardation, Failure to thrive, Hydronephrosis OMIM:311900
Focal Dermal Hypoplasia
Omphalocele, Multicystic kidney dysplasia, Alopecia, Inguinal hernia, Camptodactyly of finger, Co... ORPHA:2092
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum... ORPHA:64755
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, Atypical ... ORPHA:1297
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Short stature, Congenital diaphragmatic hernia, Kypho... OMIM:617602
Igg4-Related Aortitis
Low back pain, Hydronephrosis, Weight loss ORPHA:449400
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavior, Short stature ORPHA:309246
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod... ORPHA:1005
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Short stature, Scoliosis, Dysphagia ORPHA:79107
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... ORPHA:1896
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 ... ORPHA:1780
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Short neck, Heparan sulfate e... OMIM:309900
Weismann-Netter Syndrome
Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ... ORPHA:3344
Arthrogryposis, Distal, Type 5
Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, Scoliosis, Congenital fi... OMIM:108145
Ohdo Syndrome
Proteinuria OMIM:249620
Tetrasomy 9P
Short neck, Biliary atresia, Inappropriate behavior, Micropenis, Amelogenesis imperfecta, Absent ... ORPHA:3310
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Umbilical hernia, Hypoplastic labia majora, Hydronephrosis OMIM:619217
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Bloom Syndrome
Postnatal growth retardation, Cryptorchidism, Growth delay, Type II diabetes mellitus, Intrauteri... OMIM:210900
Thanatophoric Dysplasia Type 2
Short stature, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Joint hyperflex... ORPHA:93274
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Occipital Horn Syndrome
Joint laxity, Ureteral obstruction, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporosis... OMIM:304150
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia,... OMIM:613177
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Hyperhidrosis, Scoliosis OMIM:609541
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon... OMIM:616294
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Growth delay, Aminoaciduria, Elevated hepatic iron concentration, I... OMIM:614946
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... ORPHA:955
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, ... OMIM:607323
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Antinuclear antibody posit... ORPHA:449563
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Hemivertebrae, Scoliosis, Umbilical hernia, Ureteral triplication, Hydronephrosis OMIM:104350
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Melnick-Needles Syndrome
Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Osteoly... OMIM:309350
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Sho... OMIM:223800
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Maternal diabetes OMIM:300855
Carey-Fineman-Ziter Syndrome
Short stature, Glandular hypospadias, Growth delay, Scoliosis, Hydronephrosis ORPHA:1358
Monosomy 22Q13.3
Renal dysplasia, Hyperactivity, Sacral dimple, Hair-pulling, Obesity, Hypohidrosis, Long eyelashe... ORPHA:48652
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Joint laxity, Thoracic scoliosis, Absent sternal ossification... OMIM:114290
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormality of the kidney, ... ORPHA:2273
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... ORPHA:15
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Dysphagia OMIM:617143
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... OMIM:615989
Teebi-Shaltout Syndrome
Ureteral stenosis, Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline... OMIM:272950
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Synophrys, Abnormal curvature of the vertebral column, Tics, Compulsive... OMIM:619475
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Abnormality of the kidney, Short statur... ORPHA:201
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas, Abnormal vertebral morphology, Hydronephrosis ORPHA:210122
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Wieacker-Wolff Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camp... OMIM:314580
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
3M Syndrome
Hypospadias, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increas... ORPHA:2616
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Short stature, Recurrent fractures, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:2785
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Intrauterine growth retardation, Low anterior hairline, Dysphagia OMIM:619909
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Kyphosis, Dysphagia, Gait imbalance, Scoliosis, Truncal ataxia OMIM:211530
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Ventral hernia, Thoracic scoliosis, Diabetes mellitus, Sacral dimple, Widened atrophi... ORPHA:536532
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur... ORPHA:3042
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Cohen Syndrome
Failure to thrive in infancy, Short stature, Thick hair, Abnormal eyelash morphology, Kyphosis, C... ORPHA:193
Occipital Horn Syndrome
Osteopenia, Coarse hair, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis, Hep... ORPHA:198
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Johanson-Blizzard Syndrome
Hepatic fibrosis, Micropenis, Hypothyroidism, Joint laxity, Hepatomegaly, Hypospadias, Short stat... OMIM:243800
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Postnatal growth ... ORPHA:487796
Williams Syndrome
Osteopenia, Hypoplasia of penis, Abnormal tubulointerstitial morphology, Dysmetria, Nephrocalcino... ORPHA:904
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Abnormal vertebra... ORPHA:280
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Pancreatitis, Oliguria, Acute kidney injury, Nephrotic range proteinur... ORPHA:544482
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Kyphosis, Dilatation of the renal pelvis, Dysmetria, Knee flexion contracture, Rectovagin... OMIM:619708
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Craniosynostosis, Short neck, Camptodactyly of finger,... DECIPHER:81
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hepatitis, Nephrotic syndrome, Intrauter... OMIM:615846
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Severe short stature, Hypospadias, Ext... ORPHA:2658
Kabuki Syndrome 1
Crossed fused renal ectopia, Short stature, Premature thelarche, Highly arched eyebrow, Postnatal... OMIM:147920
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, ... ORPHA:2789
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... ORPHA:3260
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contrac... OMIM:618493
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Short stature, Kyphosis, Chro... ORPHA:1855
Raine Syndrome
Increased bone mineral density, Hydroureter, Short stature, Highly arched eyebrow, Short neck, Su... OMIM:259775
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Orchitis, Jaundice, Dehydration... ORPHA:99826
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... OMIM:618268
Mgat2-Cdg
Osteopenia, Abnormality of the endocrine system, Kyphosis, Hirsutism, Long eyelashes, Hypoplastic... ORPHA:79329
Lujo Hemorrhagic Fever
Renal insufficiency, Stiff neck, Fulminant hepatitis, Oliguria, Hyperhidrosis, Dysphagia, Microsc... ORPHA:319213
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse scalp hair, Enlarged labia m... OMIM:606170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Intrauterine growth retardation, Hepa... OMIM:615356
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion... ORPHA:88628
Fountain Syndrome
Craniofacial hyperostosis, Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bod... ORPHA:3219
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Radio... OMIM:192350
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Hemivertebrae... OMIM:214800
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Cat Eye Syndrome
Renal agenesis, Short stature, Biliary atresia, Horseshoe kidney, Vesicoureteral reflux, Umbilica... OMIM:115470
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Broad eyebrow, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Spa... ORPHA:457359
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Kyphosis, Abnormal repetitive mannerisms, Scoliosis ORPHA:261144
Acute Promyelocytic Leukemia
Metrorrhagia, Anorexia, Weight loss, Hematuria, Addictive alcohol use ORPHA:520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Autosomal Recessive Ataxia, Beauce Type
Ataxia, Urinary incontinence, Kyphosis, Dysmetria, Gait disturbance, Scoliosis ORPHA:88644
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Craniosynostosis, Highly arched eyebrow, Bilateral cryptorchi... OMIM:616268
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, He... ORPHA:116
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Facial hypotonia, Limb jo... ORPHA:404454
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Anorexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis ORPHA:1969
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... OMIM:610915
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ataxia, Impulsivity, Aggressive behavior, Kyphoscoliosis, Kyphosis, Cryptorchidism,... OMIM:300967
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Self-i... ORPHA:192
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... OMIM:211900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Short stature, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abn... ORPHA:363700
Noonan Syndrome 14
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Hyperhidrosis, L... OMIM:619745
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Autoimmunity, Hepatitis, Hypoplasia of the thymus, Type I diabetes m... ORPHA:436252
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Limited elbow movement, Sho... OMIM:261540
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Inguinal hernia, Camptodactyly of fi... ORPHA:284984
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Athetosis, Irritability, Scoliosis, Bruxism, Abnormal repetitive mann... OMIM:613454
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retardation, ... OMIM:300712
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Scoliosis, Dysphagia ORPHA:261250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Oliguria, Reversible renal failu... ORPHA:90051
Peters Plus Syndrome
Ureteral duplication, Short neck, Clitoral hypoplasia, Spina bifida occulta, Renal duplication, M... ORPHA:709
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Osteopenia, Sacral dimple, Hyperextensible thumb, Short stature, Thoracolumbar s... ORPHA:480880
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Target cells, Inc... OMIM:603903
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Cryptorchidism, Enamel hypoplasia, Xerostomia, Renal hypoplasi... ORPHA:2363
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Cockayne Syndrome Type 1
Renal insufficiency, Failure to thrive, Proteinuria ORPHA:90321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Congenital Myopathy 17
Failure to thrive in infancy, Renal hypoplasia, Distal arthrogryposis, Ureteropelvic junction obs... OMIM:618975
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi... OMIM:166220
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature, Cryptorc... ORPHA:163979
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Kyphosis, Cryptorchidism, Spinal canal stenosis, Hor... ORPHA:1724
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria, Hypoglycemia OMIM:616878
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Neurofibromatosis Type 1
Abnormal hair quantity, Ataxia, Short stature, Abnormality of the upper urinary tract, Recurrent ... ORPHA:636
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism, Contractures of the large joints, Palmoplantar hyperhidrosis... OMIM:617527
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hypocholes... ORPHA:14
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Short neck, Large for gestational age, Kyphosis, Joint hyperflexi... ORPHA:77301
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, U... ORPHA:958
Pfeiffer Syndrome Type 3
Tracheomalacia, Limitation of joint mobility, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... ORPHA:93260
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi... OMIM:108300
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Abnormal repetitive mannerisms, Accessory spleen, Vertebra... OMIM:194190
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Umbilical hernia, Mild short stature OMIM:169400
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Multiple prenatal fractures, Dentinog... OMIM:610682
Dysostosis, Stanescu Type
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ... ORPHA:1798
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Obesity OMIM:619471
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Ataxia, Lipodystrophy, ... ORPHA:79318
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic ... OMIM:617821
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Scarring, Hiatus hernia, Cryptorchidism, Generalized joint laxity, Nephrotic syndro... OMIM:601776
Classic Homocystinuria
Hepatomegaly, Sparse scalp hair, Recurrent fractures, Anorexia, Joint stiffness, Kyphosis, Osteop... ORPHA:394
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... ORPHA:2152
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria ORPHA:48435
Nijmegen Breakage Syndrome
Hyperactivity, Recurrent urinary tract infections, Short stature, Premature ovarian insufficiency... OMIM:251260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Focal Dermal Hypoplasia
Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Sparse ... OMIM:305600
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Okamoto Syndrome
Omphalocele, Urinary incontinence, Bifid uterus, Splenomegaly, Extension of hair growth on temple... ORPHA:2729
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Microves... OMIM:300868
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Uterine prolapse, Atrial fibrillation, Bicuspid aortic valve, Inguinal h... OMIM:613795
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence OMIM:619934
Mend Syndrome
Hyperactivity, Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Crossed fused renal ectopi... OMIM:300960
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Severe short stature, Small scrotum, Camptodactyly of finger, Kyphosis, Cryptorc... ORPHA:2215
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... ORPHA:391641
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... ORPHA:261537
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Broad-based gait, Scoliosis, Hyperlordosis OMIM:181405
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Cole-Carpenter Syndrome
Short stature, Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal form of... ORPHA:2050
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury ORPHA:90068
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Kyphosis, Hyperhidrosis, Contractures of the large joint... ORPHA:521426
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Cryptorchidism, Clitoral hypopla... OMIM:616894
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Otopalatodigital Syndrome, Type Ii
Omphalocele, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation... OMIM:304120
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platy... ORPHA:1860
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, Increased serum serotonin, Hydr... ORPHA:100078
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Severe short stature, Kyphosis, Dispropor... OMIM:616482
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Abnormal hair morphology, Cr... ORPHA:251014
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Hepat... OMIM:312870
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Supernumerary nipple, Kyphos... OMIM:619194
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibr... ORPHA:93271
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Sacral dimple, Inguinal hernia, Short stature, Rhizomelia... OMIM:180700
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Hypokinesia OMIM:149400
Lysinuric Protein Intolerance
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:222700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, Microp... OMIM:619321
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Mend Syndrome
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Kyphosis, Cryptorchidism, Failu... ORPHA:401973
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... ORPHA:261552
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis OMIM:307030
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard... ORPHA:99827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury OMIM:235400
Triosephosphate Isomerase Deficiency
Kyphosis, Jaundice, Unsteady gait, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Chol... OMIM:615512
Cdags Syndrome
Sparse scalp hair, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rectourethral fistul... OMIM:603116
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:619534
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Waddling g... OMIM:143095
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Failure to thrive in infancy, ... ORPHA:2162
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of th... OMIM:265380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension OMIM:619431
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio... OMIM:616914
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis ORPHA:261190
Knobloch Syndrome 1
Duplicated collecting system, Ataxia, Spina bifida occulta, Alopecia of scalp, Horizontal eyebrow... OMIM:267750
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased... OMIM:259770
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Camptodactyly OMIM:619123
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin OMIM:614008
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis... ORPHA:79500
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Mesomelic short stature, Tarsometatarsal synostosis, Metacarpal synos... OMIM:600383
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Short stature, Kyphosis, Platyspondyly, Spond... OMIM:208400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Kyphosis, Dysphagia, Scoliosis, Difficulty walking OMIM:619482
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Joint laxity, Sparse scalp hair... OMIM:619472
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Isolated Posterior Meningocele
Enuresis, Thoracic hemivertebrae, Hypokinesia, Difficulty walking ORPHA:268810
Chime Syndrome
Abnormality of the kidney, Osteolysis, Fine hair, Sparse hair, Hydronephrosis ORPHA:3474
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Marfanoid Habitus With Situs Inversus
Kyphosis, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Jaundice, Pancreatic hyperplasia, Acute kidney i... ORPHA:99829
Marfan Syndrome
Osteopenia, Inguinal hernia, Arthralgia/arthritis, Cachexia, Limited elbow movement, Kyphosis, Os... ORPHA:558
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Kyphosis, Dysmetria, Enuresis nocturna, Pollakisuria, Dysdiadochokinesis, D... ORPHA:171629
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness ORPHA:392
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Proteus Syndrome
Neoplasm of the thymus, Renal cyst, Abnormal form of the vertebral bodies, Generalized hirsutism,... ORPHA:744
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Portal hypertension, Unilateral renal agen... OMIM:619503
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Intrauterine ... OMIM:236680
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, Gait ataxia, Sc... OMIM:617011
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Gro... OMIM:249420
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis OMIM:619557
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Holoprosencephaly 3
Central diabetes insipidus, Hydronephrosis OMIM:142945
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
17Q11 Microdeletion Syndrome
Osteopenia, Short stature, Precocious puberty, Kyphosis, Thickened cortex of long bones, Osteopor... ORPHA:97685
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Short stature, Short nail, Kyphosis, Cryptorchidism, Umbilical herni... OMIM:278250
Ramon Syndrome
Short stature, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheuma... OMIM:266270
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Increased susc... OMIM:119600
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorch... OMIM:113620
Danon Disease
Hypokinesia OMIM:300257
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Ataxia, Oliguria, Lethargy, Acute kidney injury ORPHA:466650
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Hypospadias, Tarsal synostosis, Abnormal dental enamel morphology, Absent eyelash... ORPHA:85199
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Osteoarthritis, Spinal cana... ORPHA:828
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Cardiogenic Shock
Oliguria ORPHA:97292
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Short stature, Kyphosis, Tracheomalacia, Intrauterine growth retard... ORPHA:1393
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Renal artery stenosis, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Highly arched eyebrow, K... OMIM:303600
Yunis-Varon Syndrome
Anterior concavity of thoracic vertebrae, Micropenis, Decreased skull ossification, Absent sterna... OMIM:216340
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Inguinal hernia, Hydroureter, Hydronephrosis OMIM:212093
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:300106
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis, Cellulitis OMIM:153400

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 Ins2

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 Ins2.

No publications found that use IMPC mice or data for Ins2.

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
Ins2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ins2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ins2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ins2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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