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Gene: Rrm2b MGI:2155865

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms:

p53R2

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 Rrm2b mutations

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

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

Human diseases associated with Rrm2b (7 diseases)
Human diseases predicted to be associated with Rrm2b (1819 diseases)

The table below shows human diseases associated to Rrm2b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Cardiomyopathy, High palate, Weakness of facial musculature, Limb muscle...	ORPHA:329336
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers	ORPHA:480
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Elevated circulating creatine kinase concentration, Facial palsy, Goiter, Quad...	ORPHA:254892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077

The table below shows human diseases predicted to be associated to Rrm2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Galloway-Mowat Syndrome 6	Proteinuria, Short stature, Decreased response to growth hormone stimulation test, Growth delay, ...	OMIM:618347
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:616730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang...	OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue ...	ORPHA:94086
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem...	OMIM:608709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria	OMIM:614652
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Hypocalcemia, Autosomal Dominant 1	Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo...	ORPHA:99845
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Glycogen Storage Disease Ia	Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Hypoglycemia, Hepatocellular car...	OMIM:232200
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Proteinuria, Elevated circulating aspartate aminotransferase concent...	OMIM:620010
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carci...	OMIM:232220
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Patent ductus arteriosus, Flexion contracture, Neutr...	OMIM:617303
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Short stature, Ventricular septal defect, Minimal chang...	OMIM:618348
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Variant Abeta2M Amyloidosis	Intestinal perforation, Cardiac amyloidosis, Chronic kidney disease, Abnormality of the tongue, A...	ORPHA:314652
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos...	ORPHA:36913
Crome Syndrome	Short stature, Renal tubular epithelial necrosis	OMIM:218900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Proteinuria, Abnormality of the kidney, Short stature, Hypoglycemia, He...	ORPHA:369
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	OMIM:603233
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Nephrotic syndrome, Ca...	ORPHA:79327
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th...	ORPHA:85443
Pseudohypoparathyroidism, Type Ic	Short stature, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, ...	OMIM:612462
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Pseudohypoparathyroidism, Type Ia	Short stature, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Subcutaneous o...	OMIM:103580
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem...	OMIM:145600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect...	ORPHA:280062
Fanconi-Bickel Syndrome	Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Glycosuria, Postpr...	ORPHA:2088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short statur...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Proteinuria, Abnormal subcutaneous fat tissue distribution, Flexion con...	OMIM:212065
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Ste...	OMIM:602579
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Supern...	OMIM:614376
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ...	ORPHA:340
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Chorioretinal scar, Elevated circulating C-reactive protein concentration, Ele...	ORPHA:91500
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Short stature, Elevated h...	ORPHA:1667
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Ethylene Glycol Poisoning	Renal insufficiency, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular...	ORPHA:31826
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Patchy...	ORPHA:2323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibros...	ORPHA:79259
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Postnatal growth re...	OMIM:241410
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia...	ORPHA:79240
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Proteinuria, Thrombocytopenia	OMIM:189800
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Osteomalacia, Delayed epiphyseal ossificat...	OMIM:300009
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hepatosplenom...	OMIM:619858
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip...	OMIM:615382
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortica...	OMIM:611555
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:94090
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Severe short stature, Proteinuria	ORPHA:2820
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration, Centrally nucleated skel...	OMIM:620235
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s...	ORPHA:94089
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Osteomalacia, Delayed epiphyseal ossification, Chronic kidney...	OMIM:300554
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di...	OMIM:617729
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Short stature, Elevated circulating crea...	OMIM:619743
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep...	ORPHA:1830
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Small for gestational age, Increased mean platelet volume, Short statu...	OMIM:222470
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr...	ORPHA:79237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubine...	OMIM:617093
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Autosomal Recessive Primary Microcephaly	Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical ...	ORPHA:2512
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat...	OMIM:619644
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tons...	OMIM:613779
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus, Abnormal circulating...	ORPHA:225
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Small for gestational age, Unilateral renal age...	OMIM:101800
H Syndrome	Decreased testicular size, Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Short ...	ORPHA:168569
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Lar...	OMIM:616026
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Camos Syndrome	Nephrotic syndrome, Renal insufficiency, Optic atrophy	ORPHA:83472
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Myopathy, Lymphocytosis, Microscopi...	ORPHA:79087
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth ...	OMIM:232700
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia...	ORPHA:2298
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Rickets, Renal tubular dysf...	ORPHA:213
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric...	OMIM:209950
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Elevated circulating creatine...	ORPHA:36234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Autosomal Dominant Hypocalcemia	Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ...	ORPHA:428
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorch...	ORPHA:97362
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Osteomalacia, Increased circulating beta-C-terminal telopeptide...	ORPHA:157215
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Elevated circulating cr...	OMIM:608104
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, ...	ORPHA:134
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Delayed epiphyseal ossificat...	OMIM:241530
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, N...	ORPHA:1192
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Dilate...	ORPHA:367
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl...	OMIM:620366
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Growth delay, Nephrotic syndro...	OMIM:619428
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Acute rhabdomyolysis, A...	ORPHA:423
Gemignani Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Delayed puberty, Abnormal testis mor...	ORPHA:2074
Tuberculosis	Weight loss	ORPHA:3389
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundice, Lip...	ORPHA:20
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropathy	OMIM:256150
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc...	OMIM:613404
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunct...	OMIM:227810
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s...	OMIM:251300
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Elevated creatine kinase after exercise, Exercise-induce...	ORPHA:57
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Osteomalacia, Bone cyst, Nephrolithiasis, Osteolysis, Abnorma...	ORPHA:93160
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s...	ORPHA:79444
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Recurrent urinary...	OMIM:615559
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Flex...	ORPHA:505248
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness	OMIM:610250
Pulmonary Blastoma	Weight loss	ORPHA:64741
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Weakness of facial musculature, Nodular regenerative hyperplasia ...	ORPHA:247691
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Microc...	OMIM:619013
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy...	OMIM:261670
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	OMIM:610717
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia	OMIM:607250
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Short stature, Osteomalacia, Rickets, Generalized a...	OMIM:613388
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s...	ORPHA:79443
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G...	ORPHA:289916
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight, Increased total bilirubin	ORPHA:890
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Short stature, Increased mean platelet ...	ORPHA:84064
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,...	OMIM:235510
Avian Influenza	Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ...	ORPHA:454836
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Laron Syndrome	Hypoplasia of penis, Severe short stature, Hypoglycemia, Truncal obesity, Delayed puberty, Hyperc...	ORPHA:633
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes...	ORPHA:352479
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia	ORPHA:94124
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Pat...	ORPHA:2123
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p...	ORPHA:839
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Elevated circulating creatine kinas...	ORPHA:368
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog...	OMIM:300559
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o...	OMIM:608022
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Cednik Syndrome	Proteinuria, Short stature, Abnormality of the dentition, Optic atrophy, Nephrotic syndrome, Abno...	ORPHA:66631
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hypergly...	ORPHA:2089
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Pos...	ORPHA:508
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154275
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Lessel-Kubisch Syndrome	Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154276
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl...	OMIM:615605
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Absence of subcutaneous fat, Co...	OMIM:610965
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Renal phosphate was...	OMIM:612286
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Absent brainstem auditory responses, Renal insufficiency, Hepatome...	ORPHA:90321
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic ki...	OMIM:166300
Spinal Muscular Atrophy, Jokela Type	Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating c...	OMIM:615048
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Protei...	ORPHA:79320
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea...	OMIM:232240
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Renal phosphate wasting, Hypophosph...	OMIM:612287
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi...	ORPHA:347
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Senior-Loken Syndrome	Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas...	ORPHA:3156
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi...	OMIM:608612
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Severe short stature, Osteopenia, Hyperca...	OMIM:156400
Interstitial Lung And Liver Disease	Hepatomegaly, Intraalveolar phospholipid accumulation, Hyperammonemia, Cholestasis, Aminoaciduria...	OMIM:615486
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Analbuminemia	Lipodystrophy, Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentra...	OMIM:616000
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Patent ductus arteriosus, Renal tubular dysfunction, Growth delay, Hyperbilirubine...	OMIM:614886
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Short stature...	OMIM:203800
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Osteolysis...	ORPHA:464329
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic...	OMIM:193100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E...	OMIM:137920
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti...	ORPHA:79086
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate c...	ORPHA:31
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness...	OMIM:620068
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammon...	ORPHA:27
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Aminoaciduria, Albuminur...	OMIM:230400
Familial Reactive Perforating Collagenosis	Diabetes mellitus, Chronic kidney disease	ORPHA:79147
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Short stature, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Ne...	OMIM:215250
Brucellosis	Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating ...	ORPHA:1304
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Bilateral ...	OMIM:242900
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the ...	ORPHA:834
Thyrocerebrorenal Syndrome	Renal insufficiency, Abnormality of the musculature of the limbs, Euthyroid goiter, Nephritis, Th...	ORPHA:3327
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd...	ORPHA:713
Alg12-Cdg	Hyponatremia, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Abnormal b...	ORPHA:79324
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:276621
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Muckle-Wells Syndrome	Renal insufficiency, Short stature, Elevated circulating C-reactive protein concentration, Leukoc...	OMIM:191900
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton...	OMIM:617595
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr...	OMIM:614480
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Hypocalcemia, Hyp...	ORPHA:89937
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Amin...	OMIM:619055
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:616239
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam...	ORPHA:488650
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness	ORPHA:488594
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Short stature, Facial palsy, Elevated circulating creatine kinase concen...	OMIM:255600
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ...	OMIM:232600
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbuminemia, Macrovesicul...	OMIM:618329
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevate...	OMIM:616828
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypogl...	ORPHA:116
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati...	ORPHA:263455
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Neonatal hypoglycemia, Increased blood urea nitrogen...	OMIM:223360
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Bardet-Biedl Syndrome 19	Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hepatic steatosis, Hydr...	OMIM:615996
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc...	ORPHA:90301
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Megabladder, Congenital	Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non...	OMIM:618719
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine growth retardation, Micropenis, F...	OMIM:613861
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Ar...	OMIM:603471
Diamond-Blackfan Anemia	Acute myeloid leukemia, Abnormality of the thenar eminence, Renal agenesis, Hypospadias, Pure red...	ORPHA:124
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo...	OMIM:300653
Apparent Mineralocorticoid Excess	Renal insufficiency, Short stature, Left ventricular hypertrophy, Abnormal urine sodium concentra...	ORPHA:320
Pseudopseudohypoparathyroidism	Short stature, Ectopic ossification, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growt...	ORPHA:79445
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,...	ORPHA:2348
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Congenital hepatic fibro...	ORPHA:2377
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology, Hyperuricemia	ORPHA:3222
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia	ORPHA:375
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroperitoneal fibros...	ORPHA:449432
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorpti...	ORPHA:398063
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Growth del...	OMIM:264700
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobin...	OMIM:268200
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Glycogen Storage Disease Iii	Ventricular hypertrophy, Thin upper lip vermilion, Hepatomegaly, Elevated hepatic transaminase, S...	OMIM:232400
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormality of the kidney, Elevated circulating crea...	ORPHA:79333
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Diastasis recti, ...	OMIM:252500
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormali...	ORPHA:29073
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Oliguria, Hyper...	ORPHA:466650
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short statu...	OMIM:619127
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy, Short stature, Abnormality of the dentition	ORPHA:2380
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ...	ORPHA:324525
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno...	ORPHA:819
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat...	OMIM:600175
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy	ORPHA:254857
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Intramuscular hematoma, ...	ORPHA:324636
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormality of the uri...	ORPHA:2204
Castleman Disease	Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive ...	ORPHA:160
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Elevated circulating creat...	OMIM:158810
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Generalized amyotrophy, H...	ORPHA:171
Mccune-Albright Syndrome	Aneurysmal bone cyst, Osteomalacia, Hepatitis, Renal phosphate wasting, Renal tubular dysfunction...	ORPHA:562
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Jeune Syndrome	Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy	ORPHA:474
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp...	ORPHA:91138
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralizatio...	OMIM:307800
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep...	OMIM:615415
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Elevated circulatin...	OMIM:615980
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Growth delay, Re...	ORPHA:90362
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Sitosterolemia 2	Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia	OMIM:618666
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Myositis, Elevated circulating C-reactive protein con...	OMIM:615934
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Short stature, Diastasis recti, Portal hypertension, Flexio...	ORPHA:440713
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Nemaline Myopathy 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl...	OMIM:609273
Amyloidosis, Finnish Type	Cardiac amyloidosis, Nephrotic syndrome, Renal insufficiency, Cardiomyopathy	OMIM:105120
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight los...	OMIM:212750
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Renal tubular acidosis, Transient hyperlipid...	ORPHA:156
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteri...	OMIM:618188
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal o...	ORPHA:289157
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:29072
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Atypical scarri...	ORPHA:95455
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia...	ORPHA:292
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc...	ORPHA:824
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop...	ORPHA:119
Seckel Syndrome 10	Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated...	OMIM:617253
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Short stature, Bicuspid aortic valve, Growth delay, Decreased serum creatin...	OMIM:617744
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Majeed Syndrome	Glomerulopathy, Failure to thrive, Hepatomegaly, Proteinuria, Increased bone mineral density, Cac...	ORPHA:77297
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Optic atro...	OMIM:220110
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure...	ORPHA:79128
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Osteomalacia, Hypocitratur...	ORPHA:18
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Hypertriglyceridemia	OMIM:618010
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Short stature	ORPHA:401805
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Overweight, Renovascular hypertension, Type II diabetes mellitus, Hypercholesterol...	ORPHA:401923
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice...	ORPHA:549
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat...	ORPHA:71212
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hype...	OMIM:306000
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, ...	OMIM:201475
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli...	ORPHA:528
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Te...	ORPHA:281090
Mody	Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,...	ORPHA:552
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Hypoglycemia, Throm...	OMIM:617053
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Cleft palate, Renal hypoplasia/aplasia	ORPHA:971
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Joint contracture, High palate, Lower limb muscle weakness	OMIM:611225
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytope...	OMIM:105650
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Skeletal muscle steatosis, Renal tub...	ORPHA:436271
Prune Belly Syndrome	Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ...	ORPHA:2970
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Distal lower limb muscle weakness	OMIM:615025
Familial Expansile Osteolysis	Hydroxyprolinuria, Osteolysis, Thin bony cortex	OMIM:174810
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Throm...	ORPHA:77259
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:255125
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Growth delay, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal l...	OMIM:226300
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:301830
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ...	OMIM:606528
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Short stature, Ventricular septal defect, Dextroca...	OMIM:614294
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Ob...	OMIM:615630
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela...	OMIM:620211
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Idiopathic Achalasia	Weight loss	ORPHA:930
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small medu...	OMIM:118450
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the...	ORPHA:2484
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypo...	OMIM:618183
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Immunodeficiency 97 With Autoinflammation	Recurrent urinary tract infections, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regul...	OMIM:619802
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing enteropathy, Hypoalbuminemia,...	ORPHA:79319
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Elevated circulating aspart...	OMIM:610198
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Hepatoblastoma, ...	OMIM:130650
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Short stature	OMIM:615686
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Elevated circulating creatine k...	OMIM:619566
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp...	OMIM:618120
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem...	ORPHA:79506
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Oral mucosal blisters, Abnor...	ORPHA:158684
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Muscular Dystrophy, Congenital, 1B	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ge...	OMIM:604801
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo...	OMIM:616222
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Dysequilibrium Syndrome	Skeletal muscle atrophy, Short stature	ORPHA:1766
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, ...	OMIM:200995
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concent...	ORPHA:89842
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormalit...	OMIM:182290
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Ca...	ORPHA:275761
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, L...	OMIM:251900
Spastic Paraplegia 70, Autosomal Recessive	Growth delay, Skeletal muscle atrophy, Achilles tendon contracture, High palate	OMIM:620323
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Skeletal muscle atrophy, Elevated circulat...	ORPHA:98895
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid...	ORPHA:411543
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Lef...	OMIM:619048
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di...	OMIM:617661
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Pancytopenia, Elevated circulating C-reactive protein concen...	OMIM:615688
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure to thrive, Medu...	OMIM:143880
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu...	ORPHA:42
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Hypoglycemi...	OMIM:606054
Glycerol Kinase Deficiency	Increased urinary glycerol, Short stature, Hypertriglyceridemia, Small for gestational age, Hyper...	OMIM:307030
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co...	OMIM:208920
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98855
Marburg Hemorrhagic Fever	Reticulocytosis, Renal insufficiency, Lymphopenia, Hypoglycemia, Elevated circulating creatine ki...	ORPHA:99826
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent duc...	ORPHA:369837
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria, Bon...	ORPHA:445038
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the...	ORPHA:223
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph...	OMIM:612089
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Multiple lipomas, Calvarial hyperostosis, Lipoma, Lymphangioma...	OMIM:176920
19P13.12 Microdeletion Syndrome	Hypospadias, Craniosynostosis, Cryptorchidism, Hyperlipidemia, Obesity, Arthrogryposis multiplex ...	ORPHA:254346
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Exercise-induced rhabdomyolysis, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney di...	ORPHA:284426
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal autonomic nervous sy...	ORPHA:330001
Burkitt Lymphoma	Intestinal obstruction, Abnormality of the spleen, Abnormality of the pancreas, Decreased proport...	ORPHA:543
Melas	Hypoparathyroidism, Proteinuria, Intestinal pseudo-obstruction, Short stature, Dilated cardiomyop...	ORPHA:550
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Abnormal heart valve morphology, ...	ORPHA:36412
Ogden Syndrome	Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, Macrov...	OMIM:300855
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Nephropathy	ORPHA:87876
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Carpal osteoly...	ORPHA:2774
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Pineal cyst, Iron d...	OMIM:618885
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Elevated circulating cre...	OMIM:158900
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Cirrhosis, Hypercholesterolemia, ...	ORPHA:263501
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Rhyns Syndrome	Osteopenia, Renal insufficiency, Short stature, Decreased response to growth hormone stimulation ...	OMIM:602152
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Short stature, ...	OMIM:242150
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Aciduria, Hyperalaninemia, Failure to thrive, Lower limb muscle weakness	OMIM:617950
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat...	OMIM:616827
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Short stature, Pulmonary lymphangiectasia, Mitral valve ...	OMIM:247410
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Pericardial effusion, Oral ulcer, Lymphad...	ORPHA:93552
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98863
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Short stature, Ventricular septal defect, Postn...	OMIM:620210
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98853
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat...	OMIM:617478
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Cryptorchidism, Renal hypo...	ORPHA:85321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:601287
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizom...	OMIM:611209
3-Methylglutaconic Aciduria Type 4	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Autosomal Recessive Spastic Paraplegia Type 62	Skeletal muscle atrophy, Knee flexion contracture	ORPHA:401785
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy	OMIM:158650
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis	OMIM:134610
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st...	ORPHA:436182
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam...	OMIM:246450
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy	OMIM:612539
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	OMIM:615895
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Hypog...	ORPHA:95409
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy	OMIM:158500
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy	ORPHA:357043
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Small for gestational ag...	OMIM:260400
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Cortical thickening of long bone diaph...	ORPHA:93325
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Short...	OMIM:613658
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch...	ORPHA:2394
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Penoscrotal hypo...	OMIM:270400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Porphyria Variegata	Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Scarring, Abnormal cir...	ORPHA:79473
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo...	ORPHA:31824
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Uri...	OMIM:617114
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy	OMIM:616282
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Snakebite Envenomation	Hyponatremia, Rhabdomyolysis, Muscle fiber necrosis, Hypopituitarism, Acute kidney injury, Thromb...	ORPHA:449285
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Congenital Lethal Erythroderma	Hypoalbuminemia, Malabsorption	ORPHA:1954
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Flexion contracture	OMIM:611105
Ddost-Cdg	Osteopenia, Lipodystrophy, Nephrotic range proteinuria, Short stature, Failure to thrive, Hepatic...	ORPHA:300536
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega...	ORPHA:435660
Chronic Hiccup	Weight loss	ORPHA:396
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy...	ORPHA:3115
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations	OMIM:300816
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina...	OMIM:613327
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopath...	OMIM:232500
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ...	OMIM:619603
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Short stature, Glomerulonephritis, He...	ORPHA:2968
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic...	ORPHA:289504
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cleft lip, Patent ductus arteri...	OMIM:251290
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Facial palsy, Sali...	ORPHA:79493
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal...	ORPHA:90340
Isaacs Syndrome	Weight loss	ORPHA:84142
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Lymphadenopathy...	ORPHA:2905
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ...	ORPHA:98911
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend...	OMIM:607155
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Hepatome...	ORPHA:14
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Tented upper lip vermilion, Internally nucleated skeletal muscle fibers,...	ORPHA:98905
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra...	OMIM:617069
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Postnata...	ORPHA:96179
Spastic Paraplegia 62, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615681
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Torticollis, Hepatomegaly, Lipodystrophy, Ureteral hypopl...	ORPHA:79328
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Reduced bone min...	ORPHA:324
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Lymphadenopathy, Enlarg...	ORPHA:79078
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia	ORPHA:1307
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia,...	OMIM:229600
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Short stature, Mitral valve prolapse, Hypocalcemia, Neph...	ORPHA:1563
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,...	OMIM:613287
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Hypoglycemia, Elevated circulating creat...	ORPHA:26791
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Increased int...	ORPHA:280365
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis...	ORPHA:810
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Renal phosphate wasting, Hypocalcemia, Hypopho...	ORPHA:352540
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho...	ORPHA:67
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Celiac disease, Conjugated hyperbilirubinemia, Jaun...	ORPHA:186
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Patent ductus arteriosus, ...	ORPHA:86818
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Pr...	ORPHA:103910
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Short stature, Pancreatic fibrosis, C...	OMIM:208500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Myopathy...	OMIM:614922
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Failure to thrive, Hepatomegaly, Hypolysinemia, Short stature, Increased...	OMIM:222700
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Mulibrey Nanism	Cachexia	ORPHA:2576
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Gracile Bone Dysplasia	Short stature, Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia, Micropen...	OMIM:602361
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Growt...	OMIM:231530
Fanconi Anemia, Complementation Group O	Short stature, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnorm...	OMIM:613390
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the kidney, Elevated c...	ORPHA:54251
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Parathyroid hyperpla...	OMIM:617994
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Enamel hypomineralization, B...	ORPHA:47159
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hy...	ORPHA:2728
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, Hypercholesterolemia...	ORPHA:254531
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-...	OMIM:248370
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:615381
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Nephroblast...	ORPHA:276280
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Scarring, Hepat...	ORPHA:101330
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy	ORPHA:3416
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Horseshoe kidney,...	OMIM:608978
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp...	ORPHA:289176
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Elevated circulating creatine kinas...	OMIM:159950
Dyschondrosteosis-Nephritis Syndrome	Proteinuria, Short stature, Hematuria, Mesomelic short stature, Microdontia, Nephropathy, Intraut...	ORPHA:1765
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Decre...	ORPHA:1933
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Senior-Loken Syndrome 9	Osteopenia, Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, H...	OMIM:616629
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Growth delay, Hype...	OMIM:245400
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, High palate, Typ...	OMIM:609285
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Short stature, Elevated circulating creatine kinase concentration, Muscle fiber hyaline bodies, C...	OMIM:255160
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep...	OMIM:173900
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Neuromyotonia, Elevated circulating creatine kinase concentration, Foot ...	OMIM:137200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Proteinuria, Short stature, Ventricular septal defect, Hematuria, Tubulointerstitial...	OMIM:616901
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:604484
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Tongue fasciculations, Increased variability i...	ORPHA:238329
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce...	OMIM:603813
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive	OMIM:614739
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Fabry Disease	Renal insufficiency, Proteinuria, Ventricular septal hypertrophy, Urinary mulberry cells, Anemia,...	OMIM:301500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Papillary renal ce...	ORPHA:97290
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ...	ORPHA:500095
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Imbal...	ORPHA:330015
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Iron deficiency anemia, Urinary bladder sphi...	ORPHA:79408
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Enanthem...	ORPHA:139402
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Elevated circulating creatine kinase concentration, Ventricular septal hypert...	OMIM:612998
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Systemic Sclerosis	Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, Abnormality...	ORPHA:90291
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro...	OMIM:613027
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl...	ORPHA:79282
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ...	ORPHA:52430
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Ménétrier Disease	Abnormal gastric mucosa morphology, Multiple gastric polyps, Hypochromic microcytic anemia, Hypoa...	ORPHA:2494
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio...	OMIM:214100
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly,...	ORPHA:797
Nail-Patella Syndrome	Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Short stature, Absence of p...	OMIM:161200
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Short stature, Hypospadias, Gingival overgrowth, Cleft palate	ORPHA:2013
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet...	ORPHA:3027
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Uroli...	OMIM:300661
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital ...	ORPHA:449563
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Coach Syndrome 1	Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal...	OMIM:216360
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac...	ORPHA:3152
Raine Syndrome	Increased bone mineral density, Hydroureter, Short stature, Subperiosteal bone formation, Hypopho...	OMIM:259775
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Facial palsy, Elevated circulating creatine kinase co...	OMIM:606612
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Decreas...	ORPHA:812
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Myositis, Thrombocytopenia,...	OMIM:617591
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia	ORPHA:364
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Extramedullary hem...	ORPHA:79303
Ck Syndrome	Abnormal cortical bone morphology, Slender build	OMIM:300831
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Microcytic anemia, Lacticaciduria, Distal amyotrophy, Tongue fasciculations,...	OMIM:618811
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Abnormal muscle fi...	ORPHA:79102
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercho...	ORPHA:77296
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, High, narrow palate, Rectal prolapse, Adenomatous colonic polyp...	ORPHA:79076
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Papa Syndrome	Type I diabetes mellitus, Myositis, Proteinuria, Lymphadenopathy	ORPHA:69126
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, High, narrow palate, Flexion contracture, Facial diplegia,...	ORPHA:171433
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ...	ORPHA:2035
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Cryptorchidism, Flexion contracture, Failure to th...	ORPHA:98791
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Flexion contracture, Orofacial cleft, High palate, ...	ORPHA:261290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ...	OMIM:617070
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Obesity, Hyperglycemia	OMIM:615986
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept...	OMIM:614300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ...	ORPHA:96184
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T...	ORPHA:90051
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Wide mouth	ORPHA:2715
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Patent ductus arteriosus, Bili...	OMIM:306955
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Primary Hyperoxaluria	Elevated hepatic transaminase, Optic disc pallor, Hyperoxaluria, Aciduria, Calcium oxalate nephro...	ORPHA:416
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,...	OMIM:618578
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, H...	OMIM:616313
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Osteochondrosis Of The Metatarsal Bone	Thickened cortex of bones, Sclerosis of foot bone	ORPHA:564003
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Parathyroid hyp...	ORPHA:2237
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d...	ORPHA:79474
Agel Amyloidosis	Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Cardiomyop...	ORPHA:85448
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Protruding tongue, Cryptorchidism, Tetralogy of Fallot,...	ORPHA:96147
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias, Decreased testicular size	OMIM:610644
Ohdo Syndrome	Proteinuria, Short stature, Cryptorchidism, Hypoplasia of teeth, Thin vermilion border, Widely sp...	OMIM:249620
Microtriplication 11Q24.1	Hyperlipidemia, Short stature, Obesity	ORPHA:289522
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:243150
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr...	ORPHA:48435
Vitamin D-Dependent Rickets, Type 3	Growth delay, Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy	ORPHA:85162
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundi...	ORPHA:529808
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Myopathy, Skeletal muscle atrophy	ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundi...	ORPHA:529799
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Macroglossia, Myopathy, Enlarged kidney, Neonatal hypoglycemia	OMIM:261740
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Delayed puberty	OMIM:615683
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Flexion contracture, Optic atrophy	OMIM:613162
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Neurogenic bladder, Hepatomegaly, Short stature, Elevated circulating cr...	OMIM:608779
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Proportionate short ...	ORPHA:3208
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Severe short stature, Short stature, Diaphragmatic eventratio...	OMIM:601186
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Ri...	ORPHA:89936
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co...	ORPHA:261494
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis...	OMIM:616878
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Neutropenia, Intrauterine g...	OMIM:618253
Chylomicron Retention Disease	Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets,...	ORPHA:71
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Systemic Capillary Leak Syndrome	Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule mor...	ORPHA:188
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Bilateral cryptorc...	ORPHA:66634
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Skeletal muscle atrophy, Hypospadias, Short stature, Downturned corners of mouth, Wide mouth, Gro...	OMIM:619759
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b...	OMIM:616719
Complement Factor I Deficiency	Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis	OMIM:610984
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Urinary incontinence, Decreased nerve conduction velocity, Upper limb mu...	OMIM:615284
Refsum Disease	Splenomegaly, Renal insufficiency, Skeletal muscle atrophy, Cardiomyopathy	ORPHA:773
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Abnormality of the bladder	ORPHA:247604
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A...	ORPHA:412
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Meningococcal Meningitis	Renal insufficiency, Elevated circulating C-reactive protein concentration	ORPHA:33475
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Proximal muscle weakness in upper limbs, Urinary i...	ORPHA:79276
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat...	ORPHA:69076
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Skeletal muscle atrophy, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, ...	ORPHA:3260
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Skeletal muscle atrophy, Pos...	OMIM:615419
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple...	ORPHA:79644
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabeculae, Hypocalcemia, Hyp...	OMIM:600081
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Dysuria, Retroperitoneal fibrosis, Osteolysi...	ORPHA:35687
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Abnormal pericardium mo...	ORPHA:183
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Distal amyotrophy, Skeletal muscle at...	OMIM:618184
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Eos...	OMIM:253600
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:319487
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Cryptorchid...	OMIM:614736
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Renal insufficiency, Short stature, Ventricular septal defect, Cryptorchidi...	OMIM:617159
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Elevated urine acetoacetic acid lev...	OMIM:620089
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Tongue fasciculations, Type 1 muscle fiber predominance	OMIM:618276
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol...	ORPHA:77261
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis...	ORPHA:79500
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Pyloric stenosis, Ragged-red muscle fibers, L...	OMIM:616924
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia	OMIM:258480
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Short stature, Facial palsy, Decreased response to growth hor...	OMIM:615873
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Gaucher Disease	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Short statur...	ORPHA:355
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, Downturned corn...	OMIM:122470
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Osteogenesis Imperfecta, Type X	Osteopenia, Inguinal hernia, Rhizomelia, Short stature, Nephrolithiasis, Decreased calvarial ossi...	OMIM:613848
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Osteogenesis Imperfecta, Type Xxii	Short stature, Abnormal circulating calcium concentration, Reduced bone mineral density, Abnormal...	OMIM:619795
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabeculae,...	OMIM:277440
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ...	ORPHA:970
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Galloway-Mowat Syndrome	Proteinuria, Short stature, Camptodactyly of finger, Abnormality of the dentition, Hiatus hernia,...	ORPHA:2065
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d...	OMIM:615508
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidi...	ORPHA:191
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Dilated cardiomyopa...	ORPHA:352447
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Diabetes mellitus, Renal hypopl...	ORPHA:261265
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react...	ORPHA:900
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Joint contracture, Spinal muscular atrophy, Tongue fasciculations	OMIM:616081
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Pericarditis, Proteinuria, Malabsorption, Orchitis...	ORPHA:342
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Malabsorption, Celiac disease, Reduce...	ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Scarring, Craniosynostosis, Growth delay, Atrophic scars, Hypoalbum...	ORPHA:79396
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Short stature, Decreased response to grow...	ORPHA:1855
Nail-Patella Syndrome	Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular cirrhosis, Obesity, Abnormal gran...	ORPHA:98907
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Growth...	OMIM:615704
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Short stature, Intestinal malrotation, Ectopic kidney, Abnormality of th...	ORPHA:94063
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Short stature, ...	ORPHA:391641
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Long philtrum, Stage 1 chronic kidney disease, Patent foramen ovale, Smooth philtrum	OMIM:618821
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, ...	ORPHA:1655
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio...	ORPHA:31150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Elevated circulating creatine kinase concentration,...	OMIM:613723
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, ...	OMIM:257200
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes...	ORPHA:79085
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d...	ORPHA:411709
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Cryptorchidism, Chordee, Hypoplast...	OMIM:300519
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Rhabdomyolys...	ORPHA:90068
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Biliary at...	ORPHA:565899
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp...	ORPHA:66628
Microcephaly, Seizures, And Developmental Delay	Skeletal muscle atrophy	OMIM:613402
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Hypoalbuminemia, Hepatic fibrosis, Aplasia of the ovary,...	ORPHA:79318
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortica...	ORPHA:2635
Central Diabetes Insipidus	Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle atrophy, Elevated circulating creatine kinas...	ORPHA:101082
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp...	ORPHA:179494
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mic...	OMIM:613610
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr...	OMIM:615238
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Mediastinal lymphadenopathy, Optic atrophy, Hematuria, Aortic ...	ORPHA:397
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ...	ORPHA:587
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Perianal abscess, Lymphadeniti...	OMIM:618935
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Crypto...	ORPHA:110
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Furrowed tongue, Oligosacchariduria, Macroglossia, Lymphadenopathy, Abno...	ORPHA:2483
Moynahan Syndrome	Cachexia	ORPHA:2574
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hypoglycemia, Patent ductus arteriosus, Nephrocalcinosis, Neutropenia,...	OMIM:618005
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:98896
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Anemia	ORPHA:371
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocyt...	ORPHA:319213
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperamm...	OMIM:210210
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Increased hepatic ...	OMIM:261680
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence	OMIM:616907
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Skeletal muscle atrophy, Short stature, Elevated circulating creatine kin...	OMIM:612073
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality...	ORPHA:556
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Autosomal Dominant Spastic Paraplegia Type 6	Skeletal muscle atrophy, Urinary incontinence	ORPHA:100988
Mitochondrial Complex I Deficiency, Nuclear Type 23	Growth delay, Skeletal muscle atrophy	OMIM:618244
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of...	ORPHA:1764
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Short stature, Hamartoma of tongue, Cleft upper ...	OMIM:311200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Rhizomelic leg shortening,...	ORPHA:397715
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentra...	OMIM:212138
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney...	ORPHA:847
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy	OMIM:612300
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Focal Myositis	Weight loss	ORPHA:48918
Oculodentodigital Dysplasia	Neurogenic bladder, Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morphology, Cra...	ORPHA:2710
Renpenning Syndrome	Skeletal muscle atrophy, Severe short stature, Hypospadias, Macrodontia, High, narrow palate, Cle...	ORPHA:3242
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t...	ORPHA:231226
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Insulin-resistant diabetes mellitus, Osteoporos...	OMIM:226980
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Short stature	ORPHA:2097
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Postnatal growth retardation, Cleft lip, Nephrolithiasis...	ORPHA:91412
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Long...	OMIM:262190
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Che...	ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Macrocytic anemia, Methylmalonic aciduria, Intrauterine growth retardati...	OMIM:615578
Melioidosis	Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a...	ORPHA:31202
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Cryptorchidism, High palate, Camptodactyly, Arthrogryposis multiplex con...	OMIM:618393
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Short stature, Optic atrop...	ORPHA:477814
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Urinary bl...	OMIM:604360
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Fibrous Dysplasia Of Bone	Thin bony cortex, Diabetes mellitus, Short stature, Hypercalcemia, Elevated circulating growth ho...	ORPHA:249
Stevens-Johnson Syndrome	Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto...	ORPHA:36426
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dental malocclusion, High palate, A...	OMIM:608931
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Osteoporosis, Re...	OMIM:277700
Distal Deletion 10Q	Failure to thrive, Scapular winging, Short stature, Craniosynostosis, Postnatal growth retardatio...	ORPHA:96148
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Hand muscle weakness, Fatty...	ORPHA:98908
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoparathyroidism, Primar...	ORPHA:85138
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia/Hypoplasia of the tongue, Pierre-Ro...	ORPHA:1358
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, He...	OMIM:300972
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Ca...	OMIM:614921
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Severe short stature, Femoral hernia, Hypospadias, Ab...	ORPHA:2658
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive...	ORPHA:2162
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy...	ORPHA:101085
D-Glyceric Aciduria	Hypoglycemia, Patent ductus arteriosus, Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, ...	OMIM:220120
Fried Syndrome	Skeletal muscle atrophy, High palate, Short philtrum	ORPHA:85335
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydrou...	ORPHA:90324
Kawasaki Disease	Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy...	ORPHA:2331
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Pat...	OMIM:618280
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Hyperammonemia, Growth delay...	OMIM:615471
Severe Acute Respiratory Syndrome	Diabetes mellitus, Acute kidney injury	ORPHA:140896
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive	OMIM:615453
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Inguinal hernia, Membranoproliferative glomerulonephritis, Failure to thrive, Micro...	OMIM:619525
Donnai-Barrow Syndrome	Omphalocele, Diaphragmatic eventration, Proteinuria, Congenital diaphragmatic hernia, Non-acidoti...	OMIM:222448
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Tongue fasciculations	OMIM:253550
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorch...	OMIM:312870
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Diabetes mellitus, Pancreatitis, Leukocytosis, Hyperkalem...	ORPHA:544482
Lamellar Ichthyosis	Renal insufficiency, Short stature	ORPHA:313
Pure Mitochondrial Myopathy	Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyolysis, Proximal a...	ORPHA:254854
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Ragged...	OMIM:258450
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Benign Schwannoma	Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwanno...	ORPHA:252164
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism	ORPHA:90065
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu...	ORPHA:101081
Huntington Disease-Like 2	Weight loss	OMIM:606438
Nathalie Syndrome	Growth delay, Skeletal muscle atrophy	OMIM:255990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:613954
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Donohue Syndrome	Skeletal muscle atrophy, Postnatal growth retardation, Thick lower lip vermilion, Long penis, Gin...	OMIM:246200
Osteogenesis Imperfecta	Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Short ...	ORPHA:666
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Weight loss, Neutrope...	ORPHA:537
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Pro...	OMIM:133540
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral ref...	ORPHA:3455
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hypokalemia, Colon cancer, Hyp...	OMIM:174900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Abnormal heart morphology, Renal tubular dysfu...	ORPHA:99885
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:310300
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d...	ORPHA:2461
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu...	OMIM:619381
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta syn...	OMIM:301040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Hepatic ...	ORPHA:17
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Patent ductus...	ORPHA:33001
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Delayed menarche, Optic atrophy	ORPHA:330050
Orthostatic Hypotension 2	Anemia, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Pyle Disease	Thin bony cortex, Reduced bone mineral density	OMIM:265900
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Hepatomegaly, Proteinu...	OMIM:216400
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel morphology, A...	ORPHA:2750
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting	OMIM:201910
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, G...	ORPHA:90674
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy	ORPHA:654
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ...	ORPHA:3464
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Distal arthrogryposis, Skeletal muscle atrophy, Knee flexion contracture	OMIM:616286
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Cryptorchidism, Facial diplegia, High palate, Arthrogryposis multiplex c...	OMIM:611890
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria	OMIM:192315
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo...	ORPHA:477817
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Severe short stature, Anemia	ORPHA:3344
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Lymphopenia, Short stature, Polycystic ov...	ORPHA:100
Arteriosclerosis, Severe Juvenile	Short stature, Chronic kidney disease, Calcification of the aorta, Arteriosclerosis, Gastric ulce...	OMIM:208060
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Renal insufficiency	ORPHA:2165
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, Nephronophthisis, He...	OMIM:266920
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Flexion contracture, Osteolysis, Oliguria	ORPHA:220393
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis, Decreased liver function	OMIM:602199
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Del...	OMIM:140000
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Short stature, Dentinogenesis imperfecta	ORPHA:166277
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Hyperlipidemi...	ORPHA:293987
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc...	OMIM:231670
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Obesity, Hydronephrosis, Growth delay, Type I diabetes m...	OMIM:619269
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Short stature, Mitral atresia, Ect...	ORPHA:140952
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Arterial calcification, Coronary artery calcification	ORPHA:289601
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Urinary incontinence, Cardiomegal...	OMIM:268800
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Skeletal muscle atrophy, Abnormal palate morphology	ORPHA:1188
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hype...	ORPHA:348
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Neutropenia, Rena...	ORPHA:506
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystro...	ORPHA:90154
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil...	ORPHA:69663
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Pericarditis, Peritonitis, Oliguria, Hematuria, Pancreatitis	ORPHA:727
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Myositis, Parotitis, Abnormality of the kidney, Glomerulo...	ORPHA:289390
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Postnatal growth retardation, Patent ductus arteriosus afte...	ORPHA:251061
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Hypospadias, Short statu...	ORPHA:84
Pyomyositis	Myositis, Renal insufficiency, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis...	ORPHA:480864
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Dilated ca...	OMIM:619343
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spa...	OMIM:218330
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated...	ORPHA:653
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypospadias, Lipoatrophy, Small for ge...	OMIM:264090
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Mi...	OMIM:194050
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal cortical bone morphology, Short stature	ORPHA:1486
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Limb joint contracture, Urinary incontinence	ORPHA:309162
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Proxi...	OMIM:606408
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Lower limb muscle weakness	OMIM:312920
Gorham-Stout Disease	Osteopenia, Torticollis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis in...	ORPHA:73
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Diaphragmatic eventra...	OMIM:619488
Wagro Syndrome	Decreased testicular size, Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Cranioectodermal Dysplasia 4	Short stature, Stage 5 chronic kidney disease, Thin vermilion border, Taurodontia, Bone marrow hy...	OMIM:614378
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Cryptorchid...	ORPHA:457205
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Cardiomyopathy, High palate, Weakness of facial musculature, Limb muscle...	ORPHA:329336
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Short stature, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductu...	OMIM:620024
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Perry Syndrome	Weight loss	ORPHA:178509
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met...	OMIM:250790
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Short stature, Cleft palate, Brachial plexus neuropathy, Narrow mouth	OMIM:162100
Hypophosphatemic Bone Disease	Rickets, Short stature, Osteomalacia, Hypophosphatemia	OMIM:146350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni...	OMIM:620305
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly, Lymphadenopathy, Atheroscler...	ORPHA:79292
Follicular Lymphoma	Weight loss	ORPHA:545
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Proteinuria, Short stature, Congenital diaphragmatic hern...	ORPHA:1272
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Left ventricular hypertrophy, Hypertro...	OMIM:618228
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Skeletal muscle atrophy, Hepatomegaly, Hypospa...	OMIM:252010
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Increased circ...	ORPHA:556037
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ...	ORPHA:728
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Optic atrophy, Cardiomyopathy, Generalized amyotrophy, Long philtrum, In...	OMIM:617710
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, In...	ORPHA:2609
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short st...	ORPHA:77293
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Short stature, Cryptorchidism, Flexion contracture, Abnormality of prima...	ORPHA:75496
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia...	OMIM:619321
Lissencephaly 8	Skeletal muscle atrophy, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ...	ORPHA:101097
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Neuhauser Syndrome	Osteopenia, Hypercholesterolemia, Short stature	OMIM:249310
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent...	ORPHA:206569
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Short philtru...	ORPHA:2136
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Skeletal muscle atrophy, Hip contracture, Short stature, Elevated circulating creati...	OMIM:255800
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Recurrent urinary tract infections, Optic atrophy, Limb hypertonia	OMIM:619527
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H...	ORPHA:3008
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture	OMIM:613710
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Hyperlipidemia, Flexion contracture, Insulin resistance, Osteolysis, Breast aplasi...	ORPHA:90153
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Skeletal muscle atrophy, Growth delay	OMIM:614932
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypercholesterolemia, Short stature	ORPHA:2479
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Recurrent urinary tract infections, Flexion contracture of finger, Urina...	OMIM:609033
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Short stature, Limb joint contracture, Carious teeth, Small pituitary gl...	OMIM:612079
Pleural Mesothelioma	Weight loss	ORPHA:50251
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus, Decreased testicular size, Micropenis	OMIM:241080
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut...	ORPHA:99827
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, A...	ORPHA:391665
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Short stature, Urinary incontinence, Growth delay, Urinary retention, Fo...	OMIM:616586
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Short stature, Urinar...	OMIM:205100
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers	ORPHA:480
Pfapa Syndrome	Weight loss	ORPHA:42642
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, Cellular urinary casts, Jaundice, Rhabdomyolysis, Hepati...	ORPHA:509
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple...	ORPHA:567983
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Severe short stature, Optic atrophy, Myopathy, Abnormal circulating crea...	ORPHA:559
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Failure to thrive, ...	OMIM:230600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Facial palsy, Abnormal muscle fiber ...	ORPHA:3068
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Congenital diaphragmatic hernia, High palate, Coronary-pulmonary artery fis...	OMIM:619699
Gnathodiaphyseal Dysplasia	Osteopenia, Thickened cortex of long bones	ORPHA:53697
Liposarcoma	Weight loss	ORPHA:69078
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy...	OMIM:614895
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Jaundice...	ORPHA:39812
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Foam cells, Short stature	OMIM:230650
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Skeletal muscle atrophy	ORPHA:101078
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Osteopenia, Enlarged polycystic ovaries, Cryptor...	ORPHA:91
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Hypopl...	OMIM:254940
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Facial palsy, Abnormal autonomic nervous system physi...	ORPHA:97229
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Osteopenia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabete...	ORPHA:536532
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Type 1 ...	ORPHA:171430
Exstrophy-Epispadias Complex	Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma...	ORPHA:322
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Centr...	OMIM:248800
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Cap Polyposis	Weight loss	ORPHA:160148
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Urinary incontinence, Elevated circulating creatine kinase concentration...	OMIM:617193
Kennedy Disease	Skeletal muscle atrophy, Abnormal circulating lipid concentration, Testicular atrophy	ORPHA:481
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Hydroureter, Selective toot...	OMIM:305620
Behçet Disease	Glomerulopathy, Renal insufficiency, Pericarditis, Myositis, Malabsorption, Orchitis, Splenomegal...	ORPHA:117
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Coccidioidomycosis	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Abnormality of the spleen, Mediasti...	ORPHA:228123
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Papillary renal cell carcinoma, Abnormal intrahepatic bile duc...	ORPHA:363618
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai...	ORPHA:423479
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Sagittal craniosynostosis, Stage 5 chronic kidney disease, Cirrhosis, ...	OMIM:614099
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Joint contracture, Optic atrophy, Narrow palate	OMIM:617481
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Optic ...	ORPHA:899
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defect, High, narrow palate...	ORPHA:435638
Hermansky-Pudlak Syndrome	Renal insufficiency, Abnormality of thrombocytes, Abnormal dental enamel morphology, Weight loss,...	ORPHA:79430
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Urinary incontinence	OMIM:105300
Bullous Pemphigoid	Weight loss	ORPHA:703
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Rhabdoid Tumor	Hematuria, Weight loss	ORPHA:69077
Pachydermoperiostosis	Hepatomegaly, Elevated circulating growth hormone concentration, Splenomegaly, Osteoporosis, Oste...	ORPHA:2796
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Thickened cortex of long bones, Growth delay, Intraute...	OMIM:253250
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures, Gingival fibromatosis, Gingival overgr...	ORPHA:2028
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:183050
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Macroglossia, Macroorchidism...	ORPHA:93
Sézary Syndrome	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:3162
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ...	OMIM:181270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Limb muscle weakness	OMIM:607458
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria	ORPHA:761
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,...	OMIM:277460
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Cardiomyopathy, Inflammation of the large intestine, Colitis, Gingival bleeding	OMIM:203300
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexi...	OMIM:619183
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Cryptorchidism, Orofacial cleft, Cam...	ORPHA:127
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia	ORPHA:25
Mitochondrial Complex I Deficiency, Nuclear Type 17	High, narrow palate, Skeletal muscle atrophy	OMIM:618239
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal...	ORPHA:288
Zygomycosis	Renal insufficiency, Pericarditis, Gastritis, Mediastinal lymphadenopathy, Myocarditis, Peritonit...	ORPHA:73263
Au-Kline Syndrome	Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Chronic kidney...	OMIM:616580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati...	OMIM:616479
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve...	OMIM:218000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro...	ORPHA:97214
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Rhabdomyolysis, Inc...	ORPHA:466677
Eiken Syndrome	Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Abnormal bon...	ORPHA:79106
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:612577
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Craniosynostosis, Splenomegaly, Lymphadenopathy, Growth delay, Reduced bone mineral...	ORPHA:667
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Abnormality of the urinary system	ORPHA:101006
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v...	ORPHA:2926
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Growth delay, Tongue fasciculations	OMIM:614678
Coffin-Lowry Syndrome	Delayed eruption of teeth, Skeletal muscle atrophy, Abnormal dental morphology, Short stature, Ab...	ORPHA:192
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Tooth malposition, High palate, Cleft palate	OMIM:618603
Acute Liver Failure	Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Hep...	ORPHA:90062
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megalobl...	ORPHA:90045
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Optic atro...	OMIM:164400
Osteosarcoma	Weight loss	ORPHA:668
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Postnatal growth re...	OMIM:269150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle ...	OMIM:124000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia	OMIM:618213
Mcdonough Syndrome	Cachexia	ORPHA:2471
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Optic atrophy	OMIM:500001
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Pemphigus Vulgaris	Weight loss	ORPHA:704
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Camptodactyly of finger, Cryptorchid...	ORPHA:2990
Yao Syndrome	Nephrolithiasis, Weight loss	OMIM:617321
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen	ORPHA:89844
Thymic Carcinoma	Weight loss	ORPHA:99868
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Skeletal muscle atrophy, Unilateral cryptorchidism, Short stature, High...	OMIM:618862
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion contracture, Delaye...	OMIM:606631
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypospadias, Abnormality of the...	ORPHA:821
Serotonin Syndrome	Rhabdomyolysis, Acute kidney injury	ORPHA:43116
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Urinary incontinence, Elevated circulating creatine ...	ORPHA:496641
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Hepatomegaly, Short stature, Limb joint contr...	OMIM:301072
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis, Xanthelasma	OMIM:603776
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Optic atrophy, Tongue fasciculations	ORPHA:2254
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Exaggerated cupid...	ORPHA:2215
Tempi Syndrome	Polycythemia, Increased hematocrit, Abnormality of the kidney	ORPHA:284227
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio...	ORPHA:682
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature, Cryptorchidism, Abnormal heart morphology...	ORPHA:85323
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor...	OMIM:614527
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Hyperechogenic pancreas, Pa...	OMIM:617052
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Short stature, Enuresis nocturna, Thin vermilion border, Long philtrum, ...	OMIM:614856
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Short stature, Dysuria, Growth delay, Upper limb muscle weakness, Distal...	ORPHA:101000
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, CNS foam cells, Short stature, Intrahepat...	ORPHA:333
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy	OMIM:618251
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration	ORPHA:269
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Short stature, Anal atresia	OMIM:617695
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Hypokalemia, Nephrolithiasis	OMIM:219090
Cranio-Osteoarthropathy	Abnormal cortical bone morphology	ORPHA:1525
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen...	OMIM:608390
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Short stature, Cryptorchidism, Flexion contracture, Prolonged neonatal j...	ORPHA:59
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat...	OMIM:253800
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Growth delay, Increased...	OMIM:612561
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Mitochondrial Complex I Deficiency, Nuclear Type 37	Growth delay, High palate, Hypospadias, Skeletal muscle atrophy	OMIM:619272
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemi...	OMIM:615512
Listeriosis	Pericarditis, Liver abscess, Myocarditis, Jaundice, Rhabdomyolysis, Peritonitis, Endocarditis, Py...	ORPHA:533
Costello Syndrome	Renal insufficiency, Short stature, Ventricular septal defect, Rhabdomyosarcoma, Pyloric stenosis...	OMIM:218040
Christianson Syndrome	Cachexia	ORPHA:85278
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ...	OMIM:154500
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness	OMIM:620378
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Holocarboxylase Synthetase Deficiency	Organic aciduria, Weight loss	ORPHA:79242
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Diabetes mellitus, Decreased response to growth hormone stimulation test...	ORPHA:273
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy, Severe short stature	ORPHA:3239
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Cryptorchidism, Deep philtrum, Optic atrophy, High palate, Tongue fascic...	OMIM:614969
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Rett Syndrome	Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Abnormal autonomic nervous sys...	ORPHA:778
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Short stature, Growth delay, Generalized am...	OMIM:605013
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defec...	ORPHA:488632
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, High palate, Wrist f...	ORPHA:800
Chronic Beryllium Disease	Weight loss	ORPHA:133
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Camurati-Engelmann Disease	Delayed eruption of teeth, Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Carious teeth, Sp...	ORPHA:1328
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu...	OMIM:162400
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Stage 5 chronic kidney di...	ORPHA:2752
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Downturned corners of mouth, Widely spaced ...	ORPHA:199
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Abnormal nerve conduct...	ORPHA:98755
Takayasu Arteritis	Weight loss	ORPHA:3287
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy	OMIM:608627
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Hyperuricemia	ORPHA:2769
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Short stature, Elevated circulating...	OMIM:256810
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Villous atro...	OMIM:614162
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, L...	ORPHA:300605
Flynn-Aird Syndrome	Carious teeth, Skeletal muscle atrophy, Atherosclerosis	ORPHA:2047
Werner Syndrome	Renal neoplasm, Skeletal muscle atrophy, Short stature, Pulmonary artery stenosis, Ovarian neopla...	ORPHA:902
Igg4-Related Aortitis	Hydronephrosis, Weight loss	ORPHA:449400
Lacrimoauriculodentodigital Syndrome 1	Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Short stature, Growth delay, Pollakisuria, Urinary retention	ORPHA:447760
Choreoacanthocytosis	Skeletal muscle atrophy, Limb muscle weakness, Elevated circulating creatine kinase concentration...	OMIM:200150
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve prolapse	ORPHA:230839
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Centrally nucleated ske...	OMIM:607459
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Neurogenic bladder, Facial myokymia	ORPHA:513436
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Optic atrophy, Myopathy, Temporal o...	ORPHA:98673
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reac...	ORPHA:297
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short stature, Abnormality of the dentition, Secundum atrial septal defe...	OMIM:615802
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Malab...	ORPHA:1876
Kaposi Sarcoma	Weight loss	ORPHA:33276
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Polyarteritis Nodosa	Weight loss	ORPHA:767
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Moderate albuminuria	OMIM:614231
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy	OMIM:205250
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Open mouth, Short stature, Myopathy	ORPHA:85329
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Hiatus hernia, Cryptorchidism, Patent ductus arteriosus, Reduced bone mineral density	OMIM:616682
Rhizomelic Chondrodysplasia Punctata, Type 5	Growth delay, Skeletal muscle atrophy, Short stature, Contractures of the large joints	OMIM:616716
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Elevated circulating creatine kinase concentration, Facial palsy, Goiter, Quad...	ORPHA:254892
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Patent ductus arteriosus, Persistence of hemoglobin F, Increased size ...	OMIM:619769
Recon Progeroid Syndrome	Skeletal muscle atrophy, Short stature, Dental crowding, Thrombocytopenia, Growth delay, Anemia, ...	OMIM:620370
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega...	ORPHA:3385
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Thin vermilion border, Smooth philtrum, Long philtrum	OMIM:616420
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy	OMIM:617892
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Open mouth, Flexion contracture, Urinary incontinence	OMIM:300243
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy	OMIM:614808
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri...	OMIM:603387
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy	OMIM:616684
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Flexion contracture, Thin vermilion border, High palate, Long philtrum, ...	ORPHA:481152
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Weight loss	ORPHA:97289
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Optic atrophy, Paralytic ileus, Facial diplegia, Upper limb muscle weakn...	ORPHA:254930
Localized Scleroderma	Skeletal muscle atrophy, Abnormality of the kidney, Abnormality of the dentition, Flexion contrac...	ORPHA:90289
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Adenylosuccinase Deficiency	Thin upper lip vermilion, Skeletal muscle atrophy, Wide mouth, Growth delay, Long philtrum, Smoot...	OMIM:103050
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Type 2 muscle fibe...	ORPHA:98915
Tetrasomy 12P	Cachexia	ORPHA:884
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Hypokalemia, Increased circu...	ORPHA:786
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Quadriceps mus...	ORPHA:845
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Rheumatoid Arthritis	Weight loss	OMIM:180300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276241
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Optic atrophy, Paralytic ileus, Facial diplegia, Facial paralysis	OMIM:613559
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy	OMIM:612069
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy	OMIM:616437
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Decreased muscle mass, Short stature, Cryptorchidism, Osteoporosis, Thin bony cortex	OMIM:309583
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Caffey Disease	Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy	OMIM:105400
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Tongue fasciculations...	OMIM:211530
Perry Syndrome	Weight loss	OMIM:168605
Oromandibular Dystonia	Weight loss	ORPHA:93958
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Klatskin Tumor	Weight loss	ORPHA:99978
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Aplasia of the pectorali...	ORPHA:570
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mes...	ORPHA:2044
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Small for gestational age, Hypog...	OMIM:201750
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence	ORPHA:88644
Native American Myopathy	Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Cryptorchidism, Abnormality of skel...	ORPHA:168572
Wolman Disease	Cachexia	ORPHA:75233
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Stüve-Wiedemann Syndrome	Osteopenia, Short stature, Camptodactyly of finger, Flexion contracture, Elbow flexion contractur...	ORPHA:3206
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight...	ORPHA:1501
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276244
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:96
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Anal stenosis, Hemolytic anemia, Short stature, Autoimmune hemolytic ane...	ORPHA:647
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy	OMIM:105550
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy	ORPHA:98757
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Increased circulating gonadotropin level, Testicular dysge...	ORPHA:168563
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy, Short stature	OMIM:221350
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Thin bony cortex, Generalized osteoporosis	OMIM:617952
Loeffler Endocarditis	Weight loss	ORPHA:75566
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Upper limb mu...	ORPHA:320375
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Skeletal muscle atrophy, Short stature, Hepatocellular carcinoma	OMIM:616200
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Abnormal...	OMIM:146500
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Patent ductus arteriosus, Elbow flexion contracture, ...	OMIM:608328
Poliomyelitis	Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,...	ORPHA:2912
Gm1 Gangliosidosis	Failure to thrive, Weight loss	ORPHA:354
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Skeletal muscle atrophy, Short stature, Flexion contracture, High palate	OMIM:300232
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Weight loss	ORPHA:251071
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Familial Glucocorticoid Deficiency	Hypernatriuria, Failure to thrive, Renal salt wasting, Weight loss	ORPHA:361
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Micropenis, Thickened cortex of long bones, Sternocleidomastoid amyotrophy	ORPHA:488434
Camurati-Engelmann Disease	Skeletal muscle atrophy, Carious teeth, Cranial nerve compression, Bone marrow hypocellularity, D...	OMIM:131300
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Short stature, Proportionate short stature, Thin bony cortex	OMIM:277600
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cleft upper lip, Cleft...	OMIM:601701
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Skeletal muscle atrophy, Hypospadias, Short stature, Cryptorchidism, Na...	OMIM:309590
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Pneumocystosis	Weight loss	ORPHA:723
Cystic Echinococcosis	Membranous nephropathy, Renal cyst, Weight loss	ORPHA:400
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th...	ORPHA:2671
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Chronic kidney disease, Corneal scarring, Atypical scarring of skin, Growth delay, Apl...	ORPHA:642
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy	ORPHA:2840
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Cleft soft palate, Patent ductus arteriosus, Aortic rupture, Bladder div...	OMIM:614557
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Protein-losing enteropathy	ORPHA:95428
Felty Syndrome	Weight loss	ORPHA:47612
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Flexion...	OMIM:618291
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Supernumerary nipple	OMIM:617339
Short Syndrome	Weight loss	ORPHA:3163
Polymyositis	Weight loss	ORPHA:732
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Growth delay, Camptodactyly, Cortical irregularity	OMIM:249420
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	OMIM:614153
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Rhabdomyosarcoma, Osteoporosis, Osteolysis, Renovascular hypertension,...	ORPHA:97685
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	ORPHA:276198
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Abnormal B-type natriuretic peptide concentration, Coronary...	ORPHA:66529
Melorheostosis	Skeletal muscle atrophy	ORPHA:2485
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:300614
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy	OMIM:615157
Rett Syndrome	Skeletal muscle atrophy, Short stature, Abnormality of the dentition	OMIM:312750
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Short stature, Abnormal large intestine morphology...	ORPHA:109
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Obesity, Cachexia	ORPHA:85293
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Short stature, Bladder diverticulum...	ORPHA:536545
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature	OMIM:253310
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
L1 Syndrome	Skeletal muscle atrophy, Aganglionic megacolon	ORPHA:275543
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy	OMIM:617143
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Spondyloocular Syndrome	Osteopenia, Unilateral cryptorchidism, Short stature, Decreased body weight, Thin bony cortex	OMIM:605822
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Fatty replacement of skeletal muscle, Cryptorchidism, Fle...	OMIM:255995
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Macronodular adrenal hyperplasia	OMIM:219080
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Duane Retraction Syndrome	Skeletal muscle atrophy, Ectopic kidney, Cleft palate, Everted lower lip vermilion, Camptodactyly	ORPHA:233
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Skeletal muscle atrophy, Patent urachus	OMIM:618252
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyponatremia, Neutrophilia, F...	ORPHA:79139
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Skeletal muscle atrophy, Short hard palate, Short stature	ORPHA:1969
Late-Onset Isolated Acth Deficiency	Failure to thrive, Weight loss	ORPHA:199299
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Xerostomia	ORPHA:803
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Leprosy	Skeletal muscle atrophy, Abnormality of the spleen, Testicular mass, Abnormality of the seventh c...	ORPHA:548
Caroli Disease	Polycystic kidney dysplasia, Weight loss	ORPHA:53035
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Dental crowding, Open bite, High, narrow pal...	ORPHA:558
Polycythemia Vera	Weight loss	ORPHA:729
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Postpoliomyelitis Syndrome	Skeletal muscle atrophy	ORPHA:2942
Tropical Pancreatitis	Weight loss	ORPHA:103918
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Lynch Syndrome	Weight loss	ORPHA:144
Whipple Disease	Cachexia	ORPHA:3452
Alveolar Echinococcosis	Renal cyst, Weight loss	ORPHA:284
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Spinocerebellar Ataxia Type 18	Skeletal muscle atrophy	ORPHA:98771
Q Fever	Hematuria, Weight loss	ORPHA:781
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Microsporidiosis	Urethritis, Nephritis, Cachexia, Weight loss	ORPHA:2552
Riddle Syndrome	Enuresis nocturna, Weight loss	ORPHA:420741
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cleft upper lip, Open ...	ORPHA:828
Stuve-Wiedemann Syndrome 1	Short stature, Elbow flexion contracture, Osteoporosis, Knee flexion contracture, Camptodactyly, ...	OMIM:601559
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm of the...	ORPHA:99889
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Short stature, Thin bony cortex	OMIM:619727
Trisomy 18	Hydronephrosis, Cachexia	ORPHA:3380
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Cryptorchidism, Optic atrophy, High palate, Microphallus, Absent penis, ...	ORPHA:284339
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Malt Lymphoma	Weight loss	ORPHA:52417
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Seckel Syndrome	Cachexia	ORPHA:808
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Weight loss	ORPHA:60025
Aicardi-Goutieres Syndrome 7	Nephrotic syndrome, Weight loss	OMIM:615846
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Rat-Bite Fever	Weight loss	ORPHA:31205
Reactive Arthritis	Weight loss	ORPHA:29207
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Weight loss	ORPHA:913
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Long penis, Weight loss, Elevated urinary epinephrine level, Hypernatriuria, ...	ORPHA:90794
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Short stature, Elevated circulating alpha-fetoprotein c...	OMIM:259050
Ppoma	Weight loss	ORPHA:97278
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Somatostatinoma	Weight loss	ORPHA:97283
Grfoma	Weight loss	ORPHA:97261
Vipoma	Weight loss	ORPHA:97282
Glucagonoma	Weight loss	ORPHA:97280
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Nephrolithiasis, Weight loss	ORPHA:652
Dermatomyositis	Weight loss	ORPHA:221
Nocardiosis	Weight loss	ORPHA:31204
Chronic Graft Versus Host Disease	Hematuria, Urinary bladder inflammation, Phimosis, Weight loss	ORPHA:99921
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Choreoacanthocytosis	Weight loss	ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia	ORPHA:2072
Proteus Syndrome	Renal cyst, Long penis, Cachexia	ORPHA:744
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077

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 Rrm2b

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 Rrm2b.

No publications found that use IMPC mice or data for Rrm2b.

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
Rrm2b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rrm2b^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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