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Gene: Rrm2b MGI:2155865

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria OMIM:612075
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
High palate, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrophy, Weakness of facial mu... ORPHA:329336
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Anterior hypopituitarism ORPHA:480
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, Elevated circulating cre... 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 Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, ... OMIM:603278
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul... OMIM:618349
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys... ORPHA:157
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Distal upper limb amyotrophy, Elevated circulating creatine kinase concentra... OMIM:614455
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Decreased body weight, Focal segmental glo... OMIM:618347
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:616730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Hypoke... ORPHA:228308
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foot process eff... OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Growth dela... OMIM:256300
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re... OMIM:618176
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci... ORPHA:49041
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Blue Diaper Syndrome
Blue urine, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Hypercal... ORPHA:94086
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Loss of truncal subcutaneous adipose tissue,... OMIM:608709
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Elevated circulating ... OMIM:614817
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Oral ulcer, Abnormal glomerular mesangium morpholo... ORPHA:567544
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kid... OMIM:617056
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Proximal muscle weakness in upper limbs, Exercise-induced myog... ORPHA:99845
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... OMIM:232200
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Abnormality of the dentition, E... OMIM:613752
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, I... ORPHA:251004
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ... OMIM:614034
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia OMIM:146200
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactiv... OMIM:620632
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:618348
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Left ventricular hypertrophy, Intrauterine growth retardation, Stage 5 chr... OMIM:619487
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Patent ductus arteriosus, Macrovesicular hepatic steatosis... OMIM:617303
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Crome Syndrome
Short stature, Renal tubular epithelial necrosis OMIM:218900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Osteopenia, Cirrhosis, Portal fibrosis, Hepatomegaly,... ORPHA:369
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidis... ORPHA:36913
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Pseudohypoparathyroidism, Ob... OMIM:603233
Al Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal heart morphology, Abnormal cardiac atrium ... ORPHA:85443
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:94089
Alg1-Cdg
Decreased liver function, Abnormality of the kidney, Protein-losing enteropathy, Cardiomyopathy, ... ORPHA:79327
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Cardiac amyloidosis, Abnormal skeletal muscle morphology, Int... ORPHA:314652
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Osteoporosis, Pseudohypopara... OMIM:612462
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-... OMIM:612925
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:301006
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Osteoporosis, Subcutaneous ossification, P... OMIM:103580
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal tubu... OMIM:602114
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated circulating creatinine concentration, Ab... ORPHA:275555
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Anemia, Ci... OMIM:276700
Bardet-Biedl Syndrome 10
Obesity, Renal insufficiency, Renal cyst OMIM:615987
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Abnormal renal corticomedullary di... OMIM:616733
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoal... OMIM:608776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Rhizomelia, ... OMIM:614376
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:254900
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Rhabdomyolysis, ... OMIM:145600
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc... OMIM:239000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Impaired glucose tolerance, Nephrocalcinosis, Hy... ORPHA:2088
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Proteinuria, Renal insufficiency ORPHA:2613
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Hepatomegaly, Proximal tu... OMIM:212065
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Anemia, Decreased glomerular filtration rate, Acute tubulointe... ORPHA:340
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po... OMIM:617006
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Stage 5 chron... ORPHA:280062
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Lymphangiectasis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatomegaly, Proximal t... OMIM:602579
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperos... OMIM:211900
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Nonketotic hypoglycemia, Hyperammonemia, Cardiomegaly, Ele... OMIM:608836
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi... ORPHA:91500
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Nephrotic syndrome, Proteinuria,... OMIM:613913
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick... ORPHA:1652
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... ORPHA:1667
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion cont... ORPHA:206549
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... ORPHA:31826
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Achilles tendon calcification, P... OMIM:617994
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Delayed puberty, Hepatocellular adenoma, Tubu... ORPHA:79259
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Anemia, Hydroureter, Duplicated collecting system, Abnormality... ORPHA:79404
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemic... OMIM:241410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:85450
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia, Proteinuria OMIM:189800
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Hepatic fibrosis, Growth delay, Failur... OMIM:619858
Dent Disease 1
Low-molecular-weight proteinuria, Rickets, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Sanjad-Sakati Syndrome
Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of pe... ORPHA:2323
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Myoglobinuria, Ketotic hypoglycemia, Increased body... ORPHA:79240
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Decreased level of coenzyme ... OMIM:607426
Malaria
Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi... ORPHA:673
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hyp... OMIM:617021
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Short stature, Obesity, Renal dysplasia, Stage 5 chronic kidney disea... OMIM:615993
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:231111
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Severe short stature ORPHA:2820
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicit... OMIM:611555
Trichohepatoenteric Syndrome 1
Cholestasis, Renal cortical microcysts, Splenomegaly, Intrauterine growth retardation, Jaundice, ... OMIM:222470
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Camptodactyly, Nephrotic syndrome, Failure to thrive, Short stature, Diffus... OMIM:617729
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease... ORPHA:470
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating hepatic transaminase concentration, Myoglobinuria, Elevated circulating crea... OMIM:620138
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Del... OMIM:300554
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Jaundice, Intrahepatic cholestasis, Duplicated collecting system, H... OMIM:617093
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Incre... ORPHA:79237
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Bone marrow hypocellularity, Lymphopenia, Intrauterine growth retardation, Stage ... ORPHA:1830
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, In... ORPHA:264580
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology, Unilateral renal agenesis, Vesicoureteral reflux, Growth delay... ORPHA:2512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Type 2 mu... OMIM:619743
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hepatomegaly, Hypouricemia, Short stature, Glycosuria, Hyperp... OMIM:616026
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalciuria, Primary hyperparathyroidism, Generalized osteoporosis, Hyperphosphatu... ORPHA:99879
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalcemia, Hypomagnesemi... ORPHA:2239
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea... OMIM:274150
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Decreased growth hormone responses to growth hormone-releasing hormone... OMIM:101800
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Delayed puberty, Lymphadenopath... ORPHA:168569
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Hemophagocytosis, Elevated circulating ... OMIM:619644
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Recurrent tonsillitis, Membranoproliferative glomerulone... OMIM:613779
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Failure to thrive, Hyperammonemia, Renal insufficiency ORPHA:28
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hy... OMIM:613095
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen cont... OMIM:232700
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Camos Syndrome
Nephrotic syndrome, Optic atrophy, Renal insufficiency ORPHA:83472
Acquired Partial Lipodystrophy
Lipoatrophy, Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin resistanc... ORPHA:79087
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Jaundice, Anemia, Lymphadenopathy, Hemophagocyto... ORPHA:540
Cholestasis-Lymphedema Syndrome
Cirrhosis, Reduced bone mineral density, Jaundice, Hepatomegaly, Abnormality of the lymphatic sys... ORPHA:1414
Cystinosis
Delayed puberty, Rickets, Hypokalemia, Nephropathy, Portal hypertension, Short stature, Failure t... ORPHA:213
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Enterocolitis, Focal segmental glomerulosclerosis OMIM:620425
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma OMIM:618272
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Protein... OMIM:608104
Bacterial Toxic-Shock Syndrome
Fasciitis, Renal insufficiency, Hypocalcemia, Recurrent urinary tract infections, Myositis, Incre... ORPHA:36234
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Elevated circulating creatinine con... ORPHA:2260
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight l... OMIM:209950
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycem... ORPHA:134
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Growth delay, Glycosuria, Hyperphosphaturia, Short stature, Ele... OMIM:615605
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Splenomegaly, Abnormal blood ion concentration, Type I diabetes mellitus, Neutropenia, ... ORPHA:37042
Gne Myopathy
Hip flexor weakness, Fatty replacement of skeletal muscle, Muscle fiber inclusion bodies, Lower l... ORPHA:602
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Postnatal growth retardation, Stage 3 chronic kidney disease, Osteopetrosis, Anemia... OMIM:620366
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, H... ORPHA:428
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Coronary artery atherosclerosis, Cerebral artery atherosclerosis, Nephrotic syndrome, Abn... ORPHA:1192
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Reduced bone mineral density, Increased circulating beta-C-terminal tel... ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Delayed epiphyseal ossification, Hype... OMIM:241530
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Postprandial hyperglycemia, Rickets, Intrahepatic ch... OMIM:227810
Gemignani Syndrome
Delayed puberty, Hypoplasia of penis, Abnormal testis morphology, Short stature, Skeletal muscle ... ORPHA:2074
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Abnormal renal physiology, Ele... OMIM:223900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Pulmonary Blastoma
Weight loss ORPHA:64741
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Gingival overgrowth, Nephrotic syndrome, Growth delay, Protein... OMIM:619428
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Hyperuricemia, Acute pancreatitis, Leukocytosis, Nonketotic hypog... ORPHA:20
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst... ORPHA:449395
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, ... OMIM:613404
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... OMIM:242530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Failure to thrive, Hyperammonemia, Thrombocytopenia, Splenome... ORPHA:79312
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastric varix, Jaundice, Anemia, Elevated circulating hepat... ORPHA:64743
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotiz... ORPHA:423
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Short stature, Dec... OMIM:619013
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Mi... OMIM:614065
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Porta... OMIM:251880
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concent... ORPHA:91547
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Or... ORPHA:93126
Nephrosialidosis
Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Pericardial effusion, Nephropathy OMIM:256150
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Wilson Disease
Portal fibrosis, Splenomegaly, High nonceruloplasmin-bound serum copper, Hepatic steatosis, Chond... OMIM:277900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyr... ORPHA:2668
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Abnormality of the hepatic vasculat... ORPHA:247691
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Short stature, Proteinuria... OMIM:251300
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithi... ORPHA:93160
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, EMG: myopathic abnormalities, Elevated creatine... ORPHA:57
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Short stat... OMIM:617730
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula... OMIM:613070
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Scapular winging, EMG: myopathic ab... OMIM:617158
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Urinary urgency OMIM:610250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent ductus arteriosus, Nephrotic syndrome, Bone marrow hypocellularit... ORPHA:505248
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Coach Syndrome 3
Nephronophthisis, Anemia, Portal fibrosis, Renal interstitial inflammation, Renal tubular atrophy... OMIM:619113
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Increased body weight, Increased total bilirubin, Renal insufficiency ORPHA:890
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:79444
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Decreased motor nerve conduction velocity OMIM:607250
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Anemia, Hemolytic-uremic syndrome, Reduced haptoglobin level, Sch... OMIM:301110
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Elevated circulating... ORPHA:90060
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Growth delay, Hyperammonemia, Thrombocytopenia, ... ORPHA:289916
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Glycogen Storage Disease X
Myoglobinuria, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Renal insuffic... OMIM:261670
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Elbow flexion contracture, H... OMIM:604416
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Avian Influenza
Acute kidney injury, Elevated circulating C-reactive protein concentration, Elevated circulating ... ORPHA:454836
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Calf muscle pseudohypert... ORPHA:352479
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Narrow palate, Oligodontia, Camptodactyly, Cryptorchidism, Pulmonary lymphangiect... OMIM:235510
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidne... OMIM:219800
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Rhab... OMIM:612933
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Patent ductus arteriosus, Inguinal hern... ORPHA:84064
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia ORPHA:94124
Laron Syndrome
Delayed puberty, Truncal obesity, Hypoplasia of penis, Severe short stature, Hypoglycemia, Hyperc... ORPHA:633
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Short stature,... OMIM:134600
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:79443
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, Proteinuria, Stag... OMIM:136680
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia, Patent ductus ar... ORPHA:2123
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, S... OMIM:612526
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Anemia, Renal insufficiency ORPHA:510
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Increased muscle glycogen content, Exercise-induced myoglobinuria, Glycogen ... ORPHA:368
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo... OMIM:301108
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Myopathy, Short stature ORPHA:366
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Short stature, Glycosuria, Failure to thrive, Postprandial ... ORPHA:2089
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Ne... OMIM:608022
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Exercise-indu... OMIM:300559
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k... ORPHA:611
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Increased body weight, Increased urinary cortisol level, Nephro... ORPHA:189427
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Short stature, Urin... OMIM:256550
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Cednik Syndrome
Optic atrophy, Abnormality of the dentition, Nephrotic syndrome, Short stature, Proteinuria, Abno... ORPHA:66631
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Colitis ORPHA:88643
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase... OMIM:230400
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Abnormality of peripheral nerve conduction, Hepatome... ORPHA:90321
Glycogen Storage Disease V
Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Exercise-induce... OMIM:232600
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Xfe Progeroid Syndrome
Cachexia, Corneal scarring, Failure to thrive, Enamel hypoplasia, Absence of subcutaneous fat, Se... OMIM:610965
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Elevated circulating creatinine concentration, Tubulointersti... OMIM:266900
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Elevated circulating creatine kinase concentration, Exercise-induced rhabdomyolysis... OMIM:154275
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Hypoglycemia, Elevated urinary dopamine level, Increased blood urea nit... ORPHA:230
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Cholelithiasis, Hyperbilirubinemia, Decreased body weight, Ele... OMIM:614886
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Leprechaunism
Postnatal growth retardation, Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Long ... ORPHA:508
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chro... OMIM:232240
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria, Delayed eruption of permanent ... ORPHA:839
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Elevated circulating creatine kinase concentration, Exercise-induced rhabdomyolysis... OMIM:154276
Alg6-Cdg
Jaundice, Protein-losing enteropathy, Decreased LDL cholesterol concentration, Abnormality of the... ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thromboc... OMIM:603552
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Failure to... OMIM:615486
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Metatarsal... OMIM:166300
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... OMIM:615048
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Senior-Loken Syndrome
Nephronophthisis, Abnormality of bone mineral density, Short stature, Congenital hepatic fibrosis... ORPHA:3156
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... ORPHA:347
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipose tissue, L... OMIM:608612
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Biliary tract a... OMIM:137920
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein... ORPHA:261222
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hypera... OMIM:620454
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Increased LDL c... OMIM:615703
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Oxoglutaric Aciduria
Short stature, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentrati... ORPHA:31
Paroxysmal Nocturnal Hemoglobinuria
Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugated hyperbilirub... ORPHA:447
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro... ORPHA:79086
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Rhabdomyo... ORPHA:713
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia, Oste... OMIM:193100
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Complement Factor H Deficiency
Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos... OMIM:609814
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Lymphadenopathy,... OMIM:267700
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammone... ORPHA:27
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Hypercalciuria, Hyperphosphaturia, Hip contracture, Nephrocalcino... OMIM:156400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci... OMIM:618886
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Abnormal circulating... ORPHA:88618
Coach Syndrome 2
Elevated circulating creatinine concentration, Portal fibrosis, Elevated circulating hepatic tran... OMIM:619111
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Sh... OMIM:215250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Alg12-Cdg
Abnormal bone ossification, Hypospadias, Abnormal adipose tissue morphology, B lymphocytopenia, C... ORPHA:79324
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Bilateral cryptorchidism, Focal seg... OMIM:242900
Hypocalcemic Vitamin D-Dependent Rickets
Postnatal growth retardation, Rickets, Hypocalcemic seizures, Hepatomegaly, Generalized aminoacid... ORPHA:289157
Free Sialic Acid Storage Disease
Reduced bone mineral density, Hepatomegaly, Nephrotic syndrome, Proteinuria, Splenomegaly, Aplasi... ORPHA:834
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration, Increased blood urea nitrogen... OMIM:223360
Brucellosis
Liver abscess, Anemia, Lymphadenopathy, Small for gestational age, Elevated circulating C-reactiv... ORPHA:1304
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Rhab... ORPHA:2364
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El... ORPHA:276621
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Hepatic fibro... OMIM:614480
Thyrocerebrorenal Syndrome
Euthyroid goiter, Abnormality of the musculature of the limbs, Nephritis, Thrombocytopenia, Renal... ORPHA:3327
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s... OMIM:610205
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... ORPHA:64753
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo... OMIM:616307
Glycogen Storage Disease Vii
Increased muscle glycogen content, Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelith... OMIM:232800
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Growth delay, Failure to thrive, Hypoglycemia, Cystinuria ORPHA:163693
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Failure ... OMIM:239200
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Short stature, Renal amyloid... OMIM:191900
Myosclerosis, Autosomal Recessive
Facial palsy, Elevated circulating creatine kinase concentration, Short stature, Achilles tendon ... OMIM:255600
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hypophosphatemic rickets, Hyperinsulinemia, Hep... ORPHA:263455
Pearson Syndrome
Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Pancre... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u... ORPHA:228305
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hepatosplenomegaly, Hy... OMIM:307800
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Foca... OMIM:616239
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Growth delay, Hyperphosphaturia, Hypophosphatemia,... ORPHA:89937
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Macrovesicular hepatic steatosis, Hyperalaninemia, Bile duct prolife... OMIM:618329
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Limb hypertonia, Facial hypotonia, Growth delay, Re... OMIM:617595
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... OMIM:154230
Nemaline Myopathy 6
Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodies, Limb muscle we... OMIM:609273
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth re... OMIM:619055
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Hydronephrosis, Patent ductus arteriosus, Hepatic steatosis, Renal ins... OMIM:615996
Retinitis Pigmentosa 59
Hepatomegaly, Failure to thrive, Micropenis, Intrauterine growth retardation, Cryptorchidism, Ren... OMIM:613861
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Splenom... ORPHA:116
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Generalized muscular appear... OMIM:269700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Iii
Thin vermilion border, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dis... OMIM:232400
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Pancreatitis, Portal... OMIM:603471
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph... OMIM:162000
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Reticulocytosis, Rhabdomyolysis, Erythroid hyperplasia, Renal ins... OMIM:300653
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral meatus, Type II diabete... ORPHA:2377
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Acute myeloid... ORPHA:124
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Renal insufficiency, Hyperuricemia ORPHA:3222
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s... ORPHA:29073
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Glomerulopathy, Hepatomegaly, Pancreatitis, Abnormality of ske... ORPHA:2348
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm... OMIM:194080
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangi... ORPHA:449432
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... OMIM:264700
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Inguinal hernia, Severe postnatal growth retardation, ... OMIM:252500
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Growth delay, F... OMIM:619147
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Proteinuria, Renal insufficiency ORPHA:375
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized muscular appearance ... OMIM:608594
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Cog7-Cdg
Postnatal growth retardation, Abnormality of the kidney, Jaundice, Hepatomegaly, Elevated circula... ORPHA:79333
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati... ORPHA:324525
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatome... OMIM:603553
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Acute rhabdomyolysis, Myoglobinuria, Elevated circulating crea... OMIM:268200
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Short ... ORPHA:320
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De... ORPHA:3467
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency OMIM:611773
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Megaloblastic anemia, Proteinuria OMIM:261100
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Autoerythrocyte Sensitization Syndrome
Hematuria, Impaired platelet adhesion, Intramuscular hematoma, Autoimmune thrombocytopenia, Throm... ORPHA:324636
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Elevated circulating C... ORPHA:160
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Renal insufficiency, Hemolyti... ORPHA:108
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Short... ORPHA:819
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Short stature, S... ORPHA:2204
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Postnatal growth retardation, Osteopenia, Generalized lipodystrophy, Osteol... OMIM:619127
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... ORPHA:171
Legg-Calvé-Perthes Disease
Short stature, Abnormality of the dentition, Skeletal muscle atrophy ORPHA:2380
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Short stature, Growth delay, Bic... OMIM:617744
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Dicarboxylic aciduria, Hepatomegaly, Increased circulating free fatty acid level, Hy... OMIM:605911
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Disproportionate short-limb short stature, Delayed epiphyseal os... OMIM:618618
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Spinal muscular ... OMIM:600175
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,... ORPHA:562
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Transient ... OMIM:255120
Bethlem Myopathy 1A
Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur... OMIM:158810
Parathyroid Carcinoma
Parathyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Hypercalciuria, Renal hamartoma... ORPHA:143
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Short stature, Proximal renal tubular acidosis, Osteomalacia, Elevated c... OMIM:179830
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Flexion contracture, Skeletal muscle atrophy OMIM:614915
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Grow... OMIM:246700
Jeune Syndrome
Nephronophthisis, Nephropathy, Short stature, Abnormality of the liver, Renal insufficiency ORPHA:474
Glycogen Storage Disease Xii
Muscle fiber splitting, Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased ery... OMIM:611881
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... ORPHA:824
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega... ORPHA:91138
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Hyperphosphat... ORPHA:94090
Goodpasture Syndrome
Anemia, Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Macroscopic he... OMIM:233450
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Uric aci... ORPHA:411536
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Skeletal muscle atrophy, Hypoglyc... ORPHA:156
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Thrombocy... OMIM:620603
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Myositis, Failure to thrive, Parat... OMIM:615934
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple... OMIM:185070
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Cholestatic liver disease, Steatorrhea, Hypochromic microcytic ... ORPHA:440713
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Anemia, Hematuria, Dysuria, Moderate albu... ORPHA:95455
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... OMIM:618188
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Decreased HDL choles... OMIM:203800
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El... ORPHA:29072
Distal Renal Tubular Acidosis
Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Prox... ORPHA:18
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, ... ORPHA:292
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia, Failure to thrive i... ORPHA:6
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cach... ORPHA:77297
Senior-Boichis Syndrome
Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,... ORPHA:84081
Idiopathic Achalasia
Weight loss ORPHA:930
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria... ORPHA:79101
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow... ORPHA:549
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas... OMIM:201475
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Rickets, Iron deficiency anemia, Macr... OMIM:212750
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatin... OMIM:604286
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase conc... ORPHA:119
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Short stature, Cryptorchidism, Re... ORPHA:281090
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Patent ductus arteriosus, Radial club hand, Recurrent urinary ... OMIM:617053
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Diabetes mellit... OMIM:617253
Autosomal Recessive Spastic Paraplegia Type 63
Short stature, Skeletal muscle atrophy ORPHA:401805
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Cheilitis, Elevated circulating C-reactive prote... ORPHA:2331
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Hydroureter, Intestinal atresia, Renal insufficiency, ... ORPHA:2970
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Fai... ORPHA:79128
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, De... ORPHA:71212
9Q31.1Q31.3 Microdeletion Syndrome
Short stature, Renovascular hypertension, Type II diabetes mellitus, Overweight, Hypercholesterol... ORPHA:401923
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Optic atrophy, Hepatomegaly, Anemia, High palate, Hypertrophic cardiomy... OMIM:220110
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Growt... OMIM:226300
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Lipoma, Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Prim... ORPHA:99880
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Porta... OMIM:619377
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circulating creatine kin... OMIM:300696
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Growth delay, Splenomegaly, Hypoglycemia, Hype... OMIM:306000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Esophageal varix, Cardiomyopathy, Portal hypertension, Ar... OMIM:232500
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia OMIM:606996
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stag... OMIM:613824
Spastic Paraplegia 18B, Autosomal Recessive
Joint contracture, High palate, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Skeletal musc... ORPHA:528
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Macrocytic anemia, Coronary... OMIM:614294
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Loss of facial adipose tissue, Abnorm... ORPHA:79083
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency, Cleft palate ORPHA:971
Mody
Hepatocellular adenoma, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Intrauteri... ORPHA:552
Familial Expansile Osteolysis
Thin bony cortex, Hydroxyprolinuria, Osteolysis OMIM:174810
Beckwith-Wiedemann Syndrome
Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicou... OMIM:130650
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Urinary incontinence, Renal potassium wasting, Parathy... ORPHA:358
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency ORPHA:526
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Hyperammonemia, Increased C-peptide level,... OMIM:620211
Myopathy With Lactic Acidosis, Hereditary
Anemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Sideroblastic anemia, ... OMIM:255125
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anemia, Anal fissure, Decreased circulating carnitine concentration, Esophageal ... ORPHA:89842
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Optic atrophy, Hepatomegaly, Anemia, Renal tubular dysfunction, Hypertr... ORPHA:436271
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
3-Methylglutaconic Aciduria, Type V
Optic atrophy, 3-Methylglutaconic aciduria, Atrial septal defect, Postnatal growth retardation, H... OMIM:610198
Beta-Thalassemia Intermedia
Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly... ORPHA:231222
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Ankle flexion contracture, Elevated circulating creatine kinase conc... OMIM:618120
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:203330
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Loss of gluteal ... OMIM:604367
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bilateral clef... OMIM:301068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Cholestasis, Impaired glucose tolerance, Short stature, Obesity, ... OMIM:615630
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Reticulocytosis, Unconjugat... ORPHA:90038
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... ORPHA:2484
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... OMIM:606528
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Vesicouret... OMIM:118450
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Increased circulating ferritin concentrati... ORPHA:829
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Mpi-Cdg
Decreased liver function, Hepatomegaly, Protein-losing enteropathy, Portal hypertension, Hypoalbu... ORPHA:79319
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine k... ORPHA:158684
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism,... OMIM:616222
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Myoglobinuria, Cholestasis, Elevated circulating creatine kinase concen... OMIM:609015
Spastic Paraplegia 63, Autosomal Recessive
Short stature, Skeletal muscle atrophy OMIM:615686
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Reduc... ORPHA:363400
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Crystalluria,... ORPHA:411543
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Dysequilibrium Syndrome
Short stature, Skeletal muscle atrophy ORPHA:1766
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Recurrent urinary tract infe... ORPHA:93598
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Hypoglycemia, Failure to thr... OMIM:251000
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Anemia, Steatorrhea, Jaundic... ORPHA:275761
Spastic Paraplegia 70, Autosomal Recessive
Growth delay, Achilles tendon contracture, High palate, Skeletal muscle atrophy OMIM:620323
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circu... OMIM:616829
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Failure to thrive, Left ventricular hypertrophy, Increased urine s... OMIM:619048
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Omphalocele, Craniosynostosis, Hepatic fibrosis, Panc... OMIM:200995
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Growth delay, Glycosuria, Failure to thri... ORPHA:411629
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Perica... ORPHA:36412
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye... ORPHA:457077
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Neutropenia, Myoglobinuria, Lower limb muscle weakness... OMIM:251900
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splen... OMIM:176920
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans... ORPHA:42
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno... ORPHA:99826
Becker Muscular Dystrophy
Elevated circulating hepatic transaminase concentration, Myoglobinuria, Elevated circulating crea... ORPHA:98895
Propionic Acidemia
Increased level of hippuric acid in urine, Anemia, Pancreatitis, Limb hypertonia, Pancytopenia, H... OMIM:606054
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Decreased compound muscle action potential amplitude, Facial palsy, Elevated circula... OMIM:301830
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, Short stature, Renal hypoplasia, Patent ductus arteriosus,... OMIM:617661
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly... OMIM:618885
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Arthrogryposis multiplex congenita, Obesity, Intrauterine growth ret... ORPHA:254346
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Hepatomegaly, ... OMIM:277400
Hereditary Fructose Intolerance
Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Growth delay, Hypophosphatemia, Chronic k... ORPHA:469
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan... OMIM:615688
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Ogden Syndrome
Enlarged kidney, Umbilical hernia, Intrauterine growth retardation, Cardiomegaly, Jaundice, Ingui... OMIM:300855
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... OMIM:208920
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormal renal morphology, Increased body weight, Sho... OMIM:182290
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hyperalaninemia, Failure to thrive, Hypoglycemia, Lower limb muscle weakness OMIM:617950
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Infection associated neutropenia, Neonatal hypoglycemia, Renal cyst,... ORPHA:445038
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Long philtrum, Muscle fiber splitting, Type 1 muscle fiber predom... OMIM:256030
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Rhabdomyolysis, Renal insufficiency OMIM:255110
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hyperaldosteronism, Um... ORPHA:534
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98855
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Failure to ... ORPHA:223
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Rena... ORPHA:369837
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Elevated circulatin... OMIM:158900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unco... OMIM:300908
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Parathyroid hyperplasia, Short statur... OMIM:612089
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Vacuolated lymphocytes, Renal artery... ORPHA:565612
Cog4-Cdg
Cirrhosis, Limb hypertonia, Growth delay, Thrombocytopenia, Hepatosplenomegaly, Failure to thrive... ORPHA:263501
Sialidosis Type 2
Hepatomegaly, Short stature, Flexion contracture, Splenomegaly, Skeletal muscle atrophy, Nephropathy ORPHA:87876
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Abnormal lymph node morphology, Hyperuricemi... ORPHA:543
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Exe... ORPHA:284426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine k... OMIM:608807
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Organic aciduria, Hepatomegaly OMIM:614741
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Cachexia, Camptodactyly of finger, Proteinuria, Nephrop... ORPHA:2774
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hyp... OMIM:602152
Transcobalamin Deficiency
Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop... ORPHA:859
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Melas
Optic atrophy, Anemia, Hypoparathyroidism, Concentric hypertrophic cardiomyopathy, Intestinal pse... ORPHA:550
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Transient hypophosphatemia, Hypocalcemia, Increased bone mineral dens... OMIM:127000
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Osteopenia, Giant platelets, Anemia, Hemolytic-uremic syndrome, Hyp... OMIM:611209
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Abnormal autonomic nervous system physiology, Hypertrophic car... ORPHA:330001
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Myositis, Oral ulcer, Lymphopenia,... ORPHA:93552
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Short stature, Mitral valve prolapse, Pulmonary lymphang... OMIM:247410
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Insulin resistance... OMIM:613877
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Postnatal growth retardation, Hyperinsulinemia, Glucose intole... ORPHA:2457
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Cholestasis, Unconjugated hyperbilirubinemia, Intrauterine growth r... OMIM:613658
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Recurrent urinary tract infections, Short stature, Co... OMIM:620210
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:616827
Structural Heart Defects And Renal Anomalies Syndrome
Atrial septal defect, Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arte... OMIM:617478
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... OMIM:603585
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Chronic pancreatitis, Increased urin... OMIM:307030
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Umbilical hernia, Renal dyspl... ORPHA:85321
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Severe short-limb d... ORPHA:436182
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Scarring, Proximal muscle weakness in upper limbs, An... ORPHA:79473
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98863
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Polycythemia, Sclerosis of ... ORPHA:2905
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98853
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Decreased circulating carnitine concentration, Hyperisoleucinemia, Failure to thriv... ORPHA:2394
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Lowe Oculocerebrorenal Syndrome
Stage 5 chronic kidney disease, Keloids, Rickets, Corneal scarring, Short stature, Failure to thr... OMIM:309000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic acidemia, Failure to thrive, Dicarboxylic acidemia, Hypoglyc... ORPHA:289504
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Calf muscle hypertrophy, Ventricular hypertrophy, Scapular winging, Elevated ... OMIM:601287
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis OMIM:134610
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Normocytic anemia, Delayed puberty, Hyperuricemia, Increased ci... ORPHA:95409
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Calva... ORPHA:93325
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Splenomegaly, Intrauterine growth retardation, Hypocholesterolemia, He... OMIM:270400
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Elevated circulating creatine kinase c... OMIM:609200
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Myopathy, Myofibrillar, 7
Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Exercise-induced myoglobinuria, Calf muscle hypertrophy, Elevated circulating... OMIM:607155
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Muscular dystrophy, Hyperinsulinemia, Hepatomegaly, Skeletal mu... OMIM:613327
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification a... OMIM:260400
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Ddost-Cdg
Osteopenia, Nephrotic range proteinuria, Short stature, Failure to thrive, Lipodystrophy, Hepatic... ORPHA:300536
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine kinase concentration, EM... OMIM:609560
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c... OMIM:620300
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased response to growth hormone stimulation test, Dec... OMIM:176270
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, Elevated circulating creatine ki... OMIM:254110
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Chronic Hiccup
Weight loss ORPHA:396
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
Snakebite Envenomation
Acute kidney injury, Muscle fiber necrosis, Hyponatremia, Rhabdomyolysis, Thrombocytopenia, Hypop... ORPHA:449285
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagn... ORPHA:31824
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc... ORPHA:435660
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Lipoma, Red... ORPHA:405
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly, Organic aciduria ORPHA:35
Hyperuricemia, Hprt-Related
Hyperuricemia, Hyperuricosuria, Nephrolithiasis, Renal insufficiency OMIM:300323
Galloway-Mowat Syndrome 9
Hiatus hernia, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glome... OMIM:619603
Isaacs Syndrome
Weight loss ORPHA:84142
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Distal lower limb muscl... ORPHA:14
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Type 1 muscle fiber... ORPHA:98905
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Facial palsy, Sali... ORPHA:79493
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Thrombocythemia 3
Thrombocytosis OMIM:614521
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Aortic aneurysm, Abnormal cranial ne... ORPHA:90340
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Roussy-Lévy Syndrome
Distal amyotrophy, Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Skeletal... ORPHA:3115
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine ki... ORPHA:98911
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased urinary porphobilinogen, Periportal fibrosis, D... ORPHA:101330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Delayed puberty, Osteopenia, Anemia, Iron deficiency anemia, Foot joint contracture, Abnormality ... ORPHA:79408
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis, Lipodystrophy OMIM:246650
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperb... OMIM:229600
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:96179
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Posterior Urethral Valve
Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary... ORPHA:93110
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Nephronophthisis 18
Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub... OMIM:615862
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Early ossification of capital femoral epiphyses, Pancreatic cysts, Renal cyst, Bile duc... OMIM:208500
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hyp... OMIM:248190
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Thrombocythemia 2
Thrombocytosis OMIM:601977
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Optic nerve compre... ORPHA:79078
Fabry Disease
Abnormal renal tubule morphology, Abnormal circulating lipid concentration, Glomerulopathy, Delay... ORPHA:324
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Abnormal circulating polysaccharide concentration, A... ORPHA:103910
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Oroticaciduria, Pancreatitis, Intraalveolar phospholipid ... OMIM:222700
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney... ORPHA:26791
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Elevated circulating hepatic transaminase concentration, A... ORPHA:67
Alg9-Cdg
Enlarged kidney, Abnormal bone ossification, Rhizomelia, Torticollis, Hepatomegaly, Periportal fi... ORPHA:79328
Distal Limb Deficiencies-Micrognathia Syndrome
Short stature, Renal hypoplasia, Proteinuria, Cryptorchidism, Renal insufficiency ORPHA:1307
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Elevated circulating creatine kinase concentration, S... OMIM:617069
Shigellosis
Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Splenic abscess, Cholestasis, Leukocy... ORPHA:810
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Short stature, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Acute myeloid leukemia, Hyperinsulinemic hypoglycemia, Recurrent tonsi... ORPHA:2968
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Scap... OMIM:300695
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot dorsiflexor weakness, Di... OMIM:613287
Fanconi Anemia, Complementation Group O
Rectal atresia, Renal cyst, Anal atresia, Short stature, Hydronephrosis, Abnormal heart morpholog... OMIM:613390
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria OMIM:612075
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Osteoporosis, D... OMIM:615381
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Fibrous dysplasia of ... ORPHA:352540
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Short stature, Mitral valve prolapse, Neph... ORPHA:1563
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul... ORPHA:54251
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial hyperostosis, Facial palsy,... ORPHA:2790
Mulibrey Nanism
Cachexia ORPHA:2576
Huntington Disease-Like 2
Weight loss ORPHA:98934
Simple Cryoglobulinemia
Abnormality of the kidney, Chronic lymphatic leukemia, Viral hepatitis, Nephrotic syndrome, Micro... ORPHA:91139
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Calf muscle hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... ORPHA:206559
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, Rickets of the lower limbs, ... ORPHA:289176
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea... OMIM:614922
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification, Asplenia, Short stature, Failure to thrive, Hypoplast... OMIM:602361
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hyperglycinemia, Growth delay, Failure to thrive, Skeletal muscle atrophy, Intra... OMIM:245400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Maturity-onset diabetes of the young, Obesity, Intrauterine growth ... ORPHA:254531
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ... OMIM:256100
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Hypertrophic cardiomyopathy, Growth delay, Hepatic necrosis... OMIM:231530
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner... ORPHA:47159
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Imerslund-Grasbeck Syndrome 2
Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Growth delay, Proteinuria, Rena... OMIM:618882
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Amyloidosis, Finnish Type
Orthostatic hypotension, Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Nephrotic syndrom... OMIM:105120
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Thin vermilion border, Glomerulopathy, Abnormal aortic valve morphology, Supernumerary tooth, Mic... ORPHA:86818
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hyp... ORPHA:2728
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Muscle fiber hyaline bodies, Calf muscle hypertrophy, High palate, Ele... OMIM:255160
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Cranial hyp... ORPHA:330015
Congenital Myopathy 23
Facial diplegia, Scapular winging, High palate, Nemaline bodies, Limb muscle weakness, Skeletal m... OMIM:609285
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Facial palsy, Abnormal cortical bone morphology ORPHA:3416
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous... ORPHA:276280
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Aplasia/Hypoplasia of the pancreas, Hypospadias, A... ORPHA:93111
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive, Hyperammonemia, Hypoglycemia OMIM:614739
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Short st... ORPHA:1933
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
Meacham Syndrome
Enlarged kidney, Accessory spleen, Aplasia of the left hemidiaphragm, Aplasia of the right hemidi... OMIM:608978
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Mesomelic short stature, Microdontia, Short stature, Proteinuria, Intrauterine growth ... ORPHA:1765
Cystinuria
Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:214
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Pectoralis ... OMIM:604801
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Increased serum pyruvate, Skeletal muscle atrophy OMIM:300816
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperglycemia, Proximal amyotrophy, Hyperlipidemia OMIM:604484
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Cholestasis, Hepatic fibrosis, Obesity, Stage 5 chronic kidney dise... OMIM:616629
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Mitral valve prolapse, Hepatic cysts, Renal ins... OMIM:173900
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb... OMIM:301050
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Neuromyotonia, Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Ske... OMIM:137200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elevated ... OMIM:620542
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Impaired glucose tolerance, Hyperinsulinemia, Loss of subcutaneous adipose tissue... OMIM:248370
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Short stature, Natal tooth, Proteinuria, Ventricular septal defect, Tubulointerstitial... OMIM:616901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Lower limb amyotrophy,... OMIM:620375
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Inguinal hernia, Chronic neutropenia, Camptodactyly, ... ORPHA:500095
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Fabry Disease
Delayed puberty, Ventricular septal hypertrophy, Urinary mulberry cells, Anemia, Abnormal autonom... OMIM:301500
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ... ORPHA:50918
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Hyperuricemia, Uric acid nephrolithiasis, Short stature, Urolithiasis, Hyperuricosur... OMIM:300661
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Fasting hypoglycemia... OMIM:613027
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu... OMIM:191800
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Jaundice, Hyperhomocystinemia,... ORPHA:79282
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Short stature, Renal dysplasia, Micropenis OMIM:613091
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated... ORPHA:79303
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Pseudopapilledema, Nephrotic syndrome,... OMIM:146255
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi... OMIM:251110
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Enlarged lacrimal... ORPHA:797
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Epiphyseal stippling, Intrahepatic biliary dysgenesis, Elevated circul... OMIM:214100
Systemic Sclerosis
Abnormality of the kidney, Acute kidney injury, Osteolytic defects of the phalanges of the hand, ... ORPHA:90291
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy, Elevated circulating cre... OMIM:612998
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, High palate, Nemaline bodies, Achilles tendon co... OMIM:620389
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Decreased adipose tissue around neck, Loss of subcutaneous adipos... OMIM:606721
Raine Syndrome
Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Short stature, Enamel ... OMIM:259775
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Intestinal polyposis, Abnormal cranial nerve morphology... ORPHA:252164
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Cardiomyopathy, Elevated circulating creatine kinase concentration, EMG: myopath... ORPHA:52430
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Urinary retention, Episodic hypokalemia, Obesity, Rhabd... ORPHA:79102
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism, Obesity, Proteinuria, Micropenis, Hypercholesterolemia OMIM:619471
Caudal Regression Syndrome
Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Abnormality of th... ORPHA:3027
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting, Chondro... OMIM:154020
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Cryptorchidism OMIM:612651
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperinsulinemi... OMIM:151660
Ménétrier Disease
Hypochromic microcytic anemia, Stomach cancer, Giant hypertrophic gastritis, Hypoproteinemia, Abn... ORPHA:2494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Elevated circulating creatine kinase c... OMIM:606612
Nail-Patella Syndrome
Hematuria, Quadriceps aplasia, Biceps aplasia, Nephrotic syndrome, Short stature, Absence of pect... OMIM:161200
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Gingival overgrowth, Short stature, Cleft palate, Skeletal muscle atrophy ORPHA:2013
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Myositis, Failure to t... OMIM:617591
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl... OMIM:267010
Sclerosteosis
Increased bone mineral density, Facial palsy, Abnormal cortical bone morphology, Craniofacial hyp... ORPHA:3152
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Arima Syndrome
Polyuria, Cirrhosis, Nephronophthisis, Anemia, Hematuria, Hepatomegaly, Tubulointerstitial fibros... OMIM:243910
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Juvenile Polyposis Of Infancy
Rectal prolapse, Protein-losing enteropathy, Anemia, High, narrow palate, Adenomatous colonic pol... ORPHA:79076
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Pulmonary lymphangiect... OMIM:137940
Sialidosis Type 1
Decreased nerve conduction velocity, Increased urinary O-linked sialopeptides, Thick lower lip ve... ORPHA:812
Papa Syndrome
Myositis, Proteinuria, Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Ck Syndrome
Slender build, Abnormal cortical bone morphology OMIM:300831
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Enlarged lacrimal glands, Abnormality of infra-orbital nerve, Pancreat... ORPHA:449563
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, ... OMIM:617641
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Vesicoureteral reflux, Conotruncal defect, Abnormal testis morphology, Evert... ORPHA:96147
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis, Hypogly... OMIM:266150
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Cardiom... OMIM:612999
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Short stature, Failure to thrive, Flexion contracture, Cryptorchidis... ORPHA:98791
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Hand muscle atrophy, Elevated urinary quinolinic acid level, Foot dorsiflexor ... OMIM:618811
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Congenital Myopathy 19
Facial hypotonia, High palate, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy, C... OMIM:618578
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Obesity, Diabetes mellitus, Hypercho... ORPHA:77296
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, Truncal obesity, Short statur... ORPHA:96184
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Trisomy 17P
Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Intrau... ORPHA:261290
Microtriplication 11Q24.1
Short stature, Obesity, Hyperlipidemia ORPHA:289522
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Proteinuria, Umbilical hernia ORPHA:2143
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Renal insufficiency OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Dicarboxylic aciduria, Increased serum... OMIM:619355
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Enlarged kidney, Hepatomegaly, Biliary atresia, Asplenia, Renal agenesi... OMIM:306955
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbi... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbi... ORPHA:529808
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Elbow flexion contracture, Upper limb muscle weakness, Wrist flexion c... ORPHA:1143
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Growth delay, Renal tubular atro... OMIM:606966
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Glomerulopathy, Short stature, Wide mouth, Proteinuria, Renal insufficiency ORPHA:2715
Thymoma
Aplastic anemia, Myositis, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, L... ORPHA:99867
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Narrow mouth, Short stature, Hypoplasia of teeth, Pro... OMIM:249620
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Elevated circulating creatine kinase concentration, Increased va... OMIM:613204
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly, Macroglossia, Myopathy OMIM:261740
Dilated Cardiomyopathy With Ataxia
Optic atrophy, 3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypochromic micro... ORPHA:66634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:253601
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia, Hypospadias OMIM:610644
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Ske... OMIM:617070
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid... OMIM:609049
Agel Amyloidosis
Facial palsy, Abnormal spleen morphology, Cardiomyopathy, Proteinuria, Orthostatic hypotension du... ORPHA:85448
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... ORPHA:2237
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Decreased ... ORPHA:90051
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pancreatitis, Leukocytosis, Weight loss, Oliguria, Renal insuff... ORPHA:188
Postinfectious Vasculitis
Hematuria, Elevated circulating C-reactive protein concentration, Abnormal circulating protein co... ORPHA:48435
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, H... ORPHA:110
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrophy, Elevated circulating ... OMIM:159950
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Pyelonephritis, Glomerulonephritis OMIM:610984
Kleefstra Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee... ORPHA:261494
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Hyperammonemia, Intrauterine growth retardation, Hypoglycemia, Small for gestational... OMIM:618253
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Elevated circulating creatine kina... ORPHA:86812
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, High palate, Limb muscle weakness, Increased variability in... OMIM:616313
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Atypical Werner Syndrome
Hypertriglyceridemia, Lipoatrophy, Delayed puberty, Reduced bone mineral density, Calf muscle hyp... ORPHA:79474
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Osteopenia, Hypophosphatemia, Growth delay OMIM:619073
Spastic Paraplegia 64, Autosomal Recessive
Delayed puberty, Skeletal muscle atrophy OMIM:615683
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613162
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Pelvic kidney, Cryptorch... OMIM:601186
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Noncompaction cardiomyopathy, Distal amyotrophy, Vesicoureteral reflux,... ORPHA:3208
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Neuro... OMIM:608779
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperamm... OMIM:616878
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas... OMIM:618398
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Skeletal muscle atrophy, Hepatic fibrosis,... OMIM:616719
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci... ORPHA:89936
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Growth delay, Bone... OMIM:620501
Meningococcal Meningitis
Renal insufficiency, Elevated circulating C-reactive protein concentration ORPHA:33475
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Renal steatosis, Decreased HDL cholesterol concentration, Tend... ORPHA:412
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating c... OMIM:253700
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Sk... ORPHA:435651
Joubert Syndrome With Hepatic Defect
Orofacial cleft, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:1454
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Nephrolithiasis, Ge... ORPHA:352447
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Hypospadias, Short philtrum, Short stature, Growth delay, Downturned corners of mouth, Wide mouth... OMIM:619759
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Refsum Disease
Cardiomyopathy, Renal insufficiency, Splenomegaly, Skeletal muscle atrophy ORPHA:773
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Joint contracture, Wide mouth, Skeletal muscle atrop... OMIM:615419
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Anemia, Lympha... OMIM:619418
Renal Nutcracker Syndrome
Hematuria, Anemia, Renal artery stenosis, Microscopic hematuria, Proteinuria, Weight loss ORPHA:71273
Thyrocerebroretinal Syndrome
Goiter, Nephritis, Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Urinary incontinence, Decreased nerve conduction velocity, Upp... OMIM:615284
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa... ORPHA:488627
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Juvenile Primary Lateral Sclerosis
Abnormality of the bladder, Skeletal muscle atrophy ORPHA:247604
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Erdheim-Chester Disease
Xanthelasma, Anemia, Increased bone mineral density, Dysuria, Retroperitoneal fibrosis, Hydroneph... ORPHA:35687
Gaucher Disease
Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Osteolysis, P... ORPHA:355
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Anemia, Hepatomegaly, Hyperuricemia... OMIM:246450
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Idiopathic Hypereosinophilic Syndrome
Anemia, Thrombocytosis, Portal fibrosis, Cholangitis, Pancreatitis, Myeloproliferative disorder, ... ORPHA:3260
Polycythemia Vera
Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm... ORPHA:729
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Growth delay, Failure to thrive, Hypophos... OMIM:600081
Cockayne Syndrome
Delayed puberty, Urinary incontinence, Cachexia, Severe short stature, Splenomegaly, Congenital c... ORPHA:191
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Short stature, Coarctation... OMIM:617159
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Urinary inco... ORPHA:79276
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci... ORPHA:319487
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, H... OMIM:210200
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Pheochromocytoma
Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Pr... OMIM:171300
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadi... OMIM:620089
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Calf muscle pseudohypertrophy, Neurogenic bladder, Decreased body w... ORPHA:96180
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Increased bone mineral density, Hyperoxaluria, Nephro... OMIM:259900
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Myositis, Proteinuria, Weight loss, Eosinophilia, Renal insufficiency,... ORPHA:183
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic fibrosis, G... OMIM:613550
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Inguinal hernia, Nephrolithiasis, Short stature, Decreased calvarial ossi... OMIM:613848
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric... ORPHA:79126
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Failure to thrive, Hyponatremia, Decreased circulating cortisol... OMIM:614736
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... OMIM:614227
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Recurrent urinary tract i... OMIM:615873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Elevated circulating creatin... OMIM:253600
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Facial diplegia, Skeletal muscle at... OMIM:618184
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic... ORPHA:107
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Abnormal renal morphology, Malrotation of colon,... OMIM:122470
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Myopathy, Congenital contracture OMIM:208100
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Growth delay, Failure to thrive,... OMIM:277440
Gaucher Disease Type 3
Delayed puberty, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, ... ORPHA:77261
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Insulin resistance OMIM:617885
Galloway-Mowat Syndrome
Abnormality of the dentition, Nephrotic syndrome, Camptodactyly of finger, Short stature, Protein... ORPHA:2065
Hellp Syndrome
Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Increased body weight, ... ORPHA:244242
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Opsismodysplasia
Disproportionate short-limb short stature, Rhizomelia, Hypophosphatemia, Renal phosphate wasting OMIM:258480
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Skeletal muscle atrophy, Foot ac... ORPHA:970
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Reduced bone mineral density, Short stature, Abnormal cir... OMIM:619795
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Short stature, Di... ORPHA:261265
Doors Syndrome
Sagittal craniosynostosis, Adrenal hyperplasia, Hydronephrosis, Nephrocalcinosis, Increased urine... ORPHA:79500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c... ORPHA:1145
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, ... OMIM:615704
Yellow Fever
Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev... ORPHA:99829
Proteus Syndrome
Enlarged kidney, Lipoma, Cachexia, Calvarial hyperostosis, Lymphangioma, Splenomegaly, Thymus hyp... ORPHA:744
Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Pancreatitis, Elevated circulating C-reactive protein concentration, U... ORPHA:900
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Nephropathy, Cryptorchidism, Obesity, Nephroblastoma, Streak ovary, Renal insufficiency OMIM:194072
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Weight loss, Proteinuria, Hemol... ORPHA:536
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Patent foramen ovale, Stage 1 chronic kidney disease, Smooth philtrum, Long philtrum OMIM:618821
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Reduced bone mineral density, Cholelithiasis, Hepatomega... ORPHA:848
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Biliary ci... OMIM:613610
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Distal lower limb amyotrophy, Anemia, Craniosynostosis, Atrophic scars, Growth delay, F... ORPHA:79396
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Protein-losing enteropathy, Hypocalcemia, Abnormal re... ORPHA:1655
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, Pa... ORPHA:1855
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, High palate, N... OMIM:255320
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Tangier Disease
Hypertriglyceridemia, Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Coronary ar... ORPHA:31150
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype... OMIM:617671
12Q14 Microdeletion Syndrome
Thin vermilion border, Ectopic kidney, Intrauterine growth retardation, Intestinal malrotation, R... ORPHA:94063
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Cirrhosis, Intestinal lymphedema, Decreased circulating prealbumin concen... ORPHA:90363
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Low plasma citrulline, Hyperalaninemi... OMIM:615751
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Hypoplastic nipples, Short stature, Chordee, Proteinuria, Umbi... OMIM:300519
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Vesico... ORPHA:391641
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Foam cells, Short stature, Splenomegaly, Skeletal muscle atrophy OMIM:230650
Nail-Patella Syndrome
Abnormality of the kidney, Reduced bone mineral density, Hematuria, Knee flexion contracture, Elb... ORPHA:2614
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Insulin resistan... ORPHA:79085
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Hyperglycinuria, Organic aciduria, Hyperleucinemia... OMIM:210210
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrull... OMIM:261680
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Myositis, Calf muscle hypertrophy, Elevated circulating creatine kinase concentr... ORPHA:565899
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decrea... ORPHA:66628
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Eosinophilic infi... OMIM:615508
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Cocaine Intoxication
Acute kidney injury, Hematuria, Elevated circulating creatine kinase concentration, Rhabdomyolysi... ORPHA:90068
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Anal atre... ORPHA:411709
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decrea... ORPHA:179494
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Giant Cell Arteritis
Optic atrophy, Hematuria, Mediastinal lymphadenopathy, Glossitis, Double outlet right ventricle w... ORPHA:397
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Elevated circulati... OMIM:257200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Pmm2-Cdg
Reduced thyroxin-binding globulin, Multiple renal cysts, Impaired neutrophil chemotaxis, Hyperins... ORPHA:79318
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration, Skel... OMIM:613723
Intermediate Nemaline Myopathy
High, narrow palate, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies... ORPHA:171433
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal enchondral ossification, Camptodactyly of finger, Coa... ORPHA:2635
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Decreased nerve conduction velocity, Elevated circulating creatine k... ORPHA:101082
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Lipodystrophy, Diabetic ketoacidos... OMIM:615238
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Oral ulcer, Acute pancrea... OMIM:618935
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Moynahan Syndrome
Cachexia ORPHA:2574
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Leukocytosis, Microsc... ORPHA:319213
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, EMG: myopathic abnormalities, Short stature, Abnormal granulo... ORPHA:98907
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Immunodeficiency 10
Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Recurrent ur... OMIM:612783
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Anemia, Skeletal muscle atrophy, Hyperuricemia ORPHA:371
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Failure to thrive, Joint contracture, Nephrocalcinosis, Patent ductus ... OMIM:618005
Orofaciodigital Syndrome I
Abnormal heart morphology, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth, Polycystic ki... OMIM:311200
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Flex... ORPHA:98896
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Abnormal peritoneum morphology, Growth delay, Hyponatr... ORPHA:1764
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm of the liver,... ORPHA:2126
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, G... OMIM:204690
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Facial diplegia, Elevated circulating creatine kinase concentration, Shor... OMIM:612073
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Early ossification of capital femoral epiphyses, Renal in... ORPHA:397715
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Growth delay, Failure ... OMIM:220120
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Short... ORPHA:847
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
Argininemia
Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activit... OMIM:207800
Maple Syrup Urine Disease, Type Ia
Increased level of hippuric acid in urine, Pancreatitis, Elevated circulating branched chain amin... OMIM:248600
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn... ORPHA:173
Focal Myositis
Weight loss ORPHA:48918
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Sialadenitis, Abnormal pituitary gland mo... ORPHA:64744
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy OMIM:618276
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Skeletal muscle atrophy ORPHA:100988
Familial Mediterranean Fever
Intestinal obstruction, Pancreatitis, Lymphadenopathy, Leukocytosis, Nephrotic syndrome, Pericard... ORPHA:342
Renpenning Syndrome
High, narrow palate, Hypospadias, Short philtrum, Narrow mouth, Anal atresia, Decreased testicula... ORPHA:3242
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:212138
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Myopathy, X-Linked, With Excessive Autophagy
Elevated circulating creatine kinase concentration, Muscle fiber necrosis, Skeletal muscle autoph... OMIM:310440
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Patent ductus arterios... OMIM:618280
Oculodentodigital Dysplasia
Cranial hyperostosis, Abnormal cortical bone morphology, Hyperostosis, Abnormal dental enamel mor... ORPHA:2710
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Hypoglycemia, Elevated circulating 21-deoxy... OMIM:201910
Melkersson-Rosenthal Syndrome
Cheilitis, Lymphadenopathy, Facial palsy, Abnormal autonomic nervous system physiology, Furrowed ... ORPHA:2483
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepatocellular carcin... ORPHA:231226
Melioidosis
Liver abscess, Splenic abscess, Parotitis, Abnormality of the spleen, Abnormal parotid gland morp... ORPHA:31202
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Limb muscle weakness OMIM:612300
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fetal Akinesia Deformation Sequence 4
High palate, Camptodactyly, Cryptorchidism, Skeletal muscle atrophy, Arthrogryposis multiplex con... OMIM:618393
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Acute Generalized Exanthematous Pustulosis
Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,... ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Skeletal muscle atrophy, Intrauterine ... OMIM:615578
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Impair... OMIM:256040
Grant Syndrome
Short stature, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Stevens-Johnson Syndrome
Anemia, Pancreatitis, Dysuria, Thrombocytopenia, Weight loss, Abnormality of neutrophils, Renal i... ORPHA:36426
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Osteoporosis, Irregular tarsal ossification, Short stature, Reduced pancreatic beta... OMIM:226980
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Hepatomegaly, Hydroureter, Unilateral renal agenesis,... ORPHA:90324
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Orthostatic hypotension, Increased urinary N-acetylglucosamin... OMIM:268800
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Hyperammonemia, Hyperglycemia, Hypoglycemia, Ketonuria OMIM:615453
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Marcus-Gunn Syndrome
Postnatal growth retardation, Nephrolithiasis, Cleft palate, Abnormal heart morphology, Abnormal ... ORPHA:91412
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Coombs-positive hemolytic an... ORPHA:90035
Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Short stature, Elevated hemoglo... OMIM:277700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria OMIM:618250
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Long penis, Fasting hypoglycemia, Short stature, Hy... OMIM:262190
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Delayed puberty, Short stature, Skeletal muscle atrophy, Decreased proportion of C... ORPHA:477814
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Fibrous Dysplasia Of Bone
Rickets, Testicular neoplasm, Abnormal bone structure, Cortical irregularity, Hyperpituitarism, S... ORPHA:249
Distal Deletion 10Q
Postnatal growth retardation, Acute kidney injury, Vesicoureteral reflux, Facial diplegia, Scapul... ORPHA:96148
Severe Acute Respiratory Syndrome
Acute kidney injury, Diabetes mellitus ORPHA:140896
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Decreased circulating copper concentration, Accessory... OMIM:300972
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Inguinal hernia, Osteoporosis, Bile duct proliferation, Microscopic hematur... OMIM:619525
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Chronic pan... ORPHA:98908
Fried Syndrome
High palate, Skeletal muscle atrophy, Short philtrum ORPHA:85335
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Hypospadias, ... ORPHA:2658
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Thenar muscle atrop... OMIM:604360
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas... OMIM:609057
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Lower-limb joint contracture, Pancreatic hypoplasia, Abnormality of th... ORPHA:99885
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Xp21 Deletion Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Calf muscle hypertrophy, Elevated circulating... ORPHA:261476
Addison Disease
Renal salt wasting, Hyperkalemia, Normocytic anemia, Delayed puberty, Primary testicular failure,... ORPHA:85138
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, High palate, Decreased muscle mass, Skeletal muscle atrophy, Dental malocclusion, A... OMIM:608931
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Holoprosencephaly
Congenital diaphragmatic hernia, Anterior hypopituitarism, Hypoplasia of penis, Panhypopituitaris... ORPHA:2162
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated circulating hepatic transaminase concentration, Hypospadias, Renal tubular acidosis, Typ... OMIM:615471
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Growth delay OMIM:618010
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Non-acidotic proximal tubulopathy, Proteinuria, Dia... OMIM:222448
Osteogenesis Imperfecta
Osteopenia, Reduced bone mineral density, Rhizomelia, Abnormal cortical bone morphology, Inguinal... ORPHA:666
Toxic Epidermal Necrolysis
Anemia, Neutropenia, Pancreatitis, Dysuria, Thrombocytopenia, Weight loss, Renal insufficiency, A... ORPHA:537
Malakoplakia
Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orch... ORPHA:556
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:616081
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Elev... OMIM:614921
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Microdontia, Ureterocele, Urethral stenosis, Decreased response to growth hormone stimulation tes... OMIM:604292
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell... ORPHA:167
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Urinary incontinence, Distal lower limb muscle weakness,... ORPHA:101085
Cockayne Syndrome B
Postnatal growth retardation, Severe failure to thrive, Hepatomegaly, Renal insufficiency, Osteop... OMIM:133540
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Pancreatitis, Hypocalcemia, Anuria, Nephrotic range proteinuri... ORPHA:544482
Joubert Syndrome 2
Failure to thrive, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Aplasia of the pectoralis major muscle, Glandular hypospadias, Facial pals... ORPHA:1358
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy ORPHA:300179
Huntington Disease-Like 2
Weight loss OMIM:606438
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Hyperglycinuria, Elevated urinary 7-... OMIM:201450
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hypercholesterolemia ORPHA:90065
Lamellar Ichthyosis
Short stature, Renal insufficiency ORPHA:313
Pure Mitochondrial Myopathy
Recurrent myoglobinuria, Scapular winging, Rhabdomyolysis, Proximal amyotrophy, Pelvic girdle mus... ORPHA:254854
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Severe intrauterine growth retardation, Intrauterine growth re... ORPHA:3455
Digeorge Syndrome
Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu... OMIM:188400
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Splenomegaly, Umbilical hernia, Duplication of ... OMIM:312870
Nathalie Syndrome
Growth delay, Skeletal muscle atrophy OMIM:255990
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co... OMIM:610717
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein... OMIM:619381
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Ly... OMIM:301074
Donohue Syndrome
Postnatal growth retardation, Thick lower lip vermilion, Long penis, Gingival overgrowth, Cholest... OMIM:246200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase conce... OMIM:258450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:17
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb... OMIM:613954
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Calf muscle hypertrophy, Decreased sensory nerve condu... ORPHA:101081
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced... OMIM:301040
Bardet-Biedl Syndrome 17
Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, Thyroid hypoplasia, G... ORPHA:90674
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Severe postnatal growth retardation, Thymic hormone decreased,... OMIM:216400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Sk... OMIM:616867
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Failure to thrive, Proteinuria, Weight loss, Chronic kidney disease, Stage 5 chronic k... ORPHA:1018
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Enamel-Renal Syndrome
Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability... ORPHA:1031
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Bifid uvula, Severe short stature, Intrauterine growth retardation, Abn... ORPHA:2461
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Patent ductus... ORPHA:33001
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Delayed menarche, Skeletal muscle atrophy ORPHA:330050
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Hypokalemia, Colon cancer, Hypoalbuminemia, Int... OMIM:174900
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Proteinuria OMIM:191830
Glutaric Acidemia I
Glutaric aciduria, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating glutaric a... OMIM:231670
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Orthostatic Hypotension 2
Hypoglycemia, Anemia, Decreased glomerular filtration rate OMIM:618182
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Micronodular cirrhosis OMIM:192315
Woodhouse-Sakati Syndrome
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline... ORPHA:3464
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Flexion contracture, Osteolysis ORPHA:220393
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholestasis, Umbilical hernia, Craniosynostosis, Stage 5 chronic kidney dis... OMIM:266920
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, High palate, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Crypto... OMIM:611890
Pyle Disease
Reduced bone mineral density, Thin bony cortex OMIM:265900
Orofaciodigital Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Broad alveolar ridges, Accessory oral fr... ORPHA:2750
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Decreased nerve conduction velocity, Aortic aneurysm, Abnormal renal morphology, D... ORPHA:477817
Hand-Foot-Genital Syndrome
Hypospadias, Renal insufficiency, Delayed ossification of carpal bones, Vesicoureteral reflux, Sm... OMIM:140000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Ureterocele, Decreased response to growth hormone stimulation test, Oligodontia, Sel... OMIM:129900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Skeletal muscle atrophy, Myop... ORPHA:97244
Arteriosclerosis, Severe Juvenile
Delayed puberty, Calcification of the aorta, Anemia, Arteriosclerosis, Short stature, Chronic kid... OMIM:208060
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Weismann-Netter Syndrome
Anemia, Severe short stature, Abnormal cortical bone morphology ORPHA:3344
Ataxia-Telangiectasia
Delayed puberty, Elevated circulating hepatic transaminase concentration, Abnormal testis morphol... ORPHA:100
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Abnormal cortical bone morphology, Dentinogenesis imperfecta ORPHA:166277
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Radial club hand ORPHA:2165
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Facial diplegia, Skeletal muscle atrophy, Knee flexion contracture OMIM:616286
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Growth delay, Obesity, Hydronephrosis, Dentinogenesis im... OMIM:619269
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Ectopic kidney, Vesicoureteral reflux, Anal atresia, Renal agenesis, Short stature, Thin upper li... ORPHA:140952
Mercury Poisoning
Acute kidney injury, Hypokalemia ORPHA:330021
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Arterial calcification, Coronary artery calcification ORPHA:289601
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Myoglobinuria, Rhabdomyolysis OMIM:602199
Nemaline Myopathy 10
Facial palsy, Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Flexion contractu... OMIM:616165
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Decreased body w... ORPHA:444490
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hyperuricemia, Increased urinary glyce... ORPHA:348
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Torticollis, Galactosuria, Enuresis nocturna, Wide mouth, Skeletal ... ORPHA:251061
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic activ... ORPHA:289390
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Hyp... OMIM:619573
Degcags Syndrome
Abnormal spleen morphology, Cholestasis, Leukopenia, Intrauterine growth retardation, Congenital ... OMIM:619488
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live... ORPHA:69663
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ... OMIM:619343
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperlipidemia, Enuresis,... ORPHA:293987
Fanconi Anemia
Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheoesophageal fistu... ORPHA:84
Leigh Syndrome
3-Methylglutaconic aciduria, Generalized aminoaciduria, Intrauterine growth retardation, Complex ... ORPHA:506
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Pancreatitis, Pericarditis, Peritonitis, Oliguria, Renal insufficiency ORPHA:727
Ataxia-Deafness-Intellectual Disability Syndrome
Abnormal palate morphology, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1188
Mast Cell Sarcoma
Weight loss ORPHA:66661
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly, Atheroscler... ORPHA:79292
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Hydronephrosis, Skeletal muscle atrophy, Dilated cardiomyopat... OMIM:607598
Joubert Syndrome 9
Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:612285
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn... ORPHA:98913
Cranioectodermal Dysplasia 4
Thin vermilion border, Short stature, Bone marrow hypocellularity, Smooth philtrum, Stage 5 chron... OMIM:614378
Pyomyositis
Testicular teratoma, Myositis, Leukocytosis, Weight loss, Renal insufficiency ORPHA:764
Spinocerebellar Ataxia 48
Cachexia, Urinary incontinence OMIM:618093
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Short stature, Pat... OMIM:620024
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation OMIM:610688
Cranioectodermal Dysplasia 1
Everted lower lip vermilion, Microdontia, Bicuspid aortic valve, Anodontia, Stage 5 chronic kidne... OMIM:218330
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iibb
Long philtrum, Thin vermilion border, Skeletal muscle atrophy OMIM:620546
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Torticollis, Osteolysis involving bones of the lower limb... ORPHA:73
Wagro Syndrome
Decreased testicular size, Obesity, Nephroblastoma, Proteinuria OMIM:612469
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Foot joint contracture, Abnormal peripheral a... ORPHA:457205
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, Elevated circulating creatine kinase concentration, EM... OMIM:615418
Neurooculorenal Syndrome
Postnatal growth retardation, Unilateral renal agenesis, Bilateral renal agenesis, Decreased circ... OMIM:620305
Congenital Myopathy 20
Scapular winging, High palate, Nemaline bodies, Congenital contracture, Increased variability in ... OMIM:620310
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic val... OMIM:606408
Lethal Congenital Contracture Syndrome Type 1
Short stature, Abnormal cortical bone morphology, Skeletal muscle atrophy ORPHA:1486
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Hyperlipidemia, Recurrent cystitis, Splenomegaly, Sta... ORPHA:64
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Re... OMIM:619321
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Hypospadias, Long penis, Hypoplasia of the thymus, Short statu... OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Osteolytic defects of the distal phalange... ORPHA:90154
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Isolated Complex I Deficiency
Hepatomegaly, Proximal tubulopathy, Increased serum pyruvate, Abnormal mitochondria in muscle tis... ORPHA:2609
Spastic Paraplegia 2, X-Linked
Optic atrophy, Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:312920
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Sandhoff Disease, Juvenile Form
Urinary incontinence, Limb joint contracture, Skeletal muscle atrophy ORPHA:309162
Perry Syndrome
Weight loss ORPHA:178509
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Aganglionic megacol... ORPHA:653
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
High palate, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrophy, Weakness of facial mu... ORPHA:329336
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615422
Follicular Lymphoma
Weight loss ORPHA:545
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, High palate, Fiber type grouping, Skeletal muscle atrophy, Diaphragm... OMIM:620011
Hypophosphatemic Bone Disease
Short stature, Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met... OMIM:250790
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enam... ORPHA:2363
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Williams-Beuren Syndrome
Abnormal renal morphology, Nephrocalcinosis, Umbilical hernia, Urethral stenosis, Intrauterine gr... OMIM:194050
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Everted lower lip vermilion, Trach... ORPHA:904
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Breast hypoplasia, Postnatal growth retardation, Oligodontia, Na... ORPHA:1272
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Short stature, Brachial plexus neuropathy, Cleft palate, Skeletal muscle atrophy OMIM:162100
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Orthostatic hypotension, Increased circulating renin ... ORPHA:556037
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Skeleta... OMIM:617710
Neurofibroma
Abnormal biliary tract morphology, Abnormal cranial nerve morphology, Multiple intestinal neurofi... ORPHA:252183
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of primary teeth, Narrow mouth, Gingivitis, Pulmonic stenosis, Aortic valve stenosis,... ORPHA:75496
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Left ventricular hypertrophy... OMIM:618228
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Nephropathy ORPHA:2318
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Elevated circulating creatine kinas... OMIM:151800
Pleural Mesothelioma
Weight loss ORPHA:50251
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Joubert Syndrome With Renal Defect
Renal insufficiency, Nephropathy ORPHA:220497
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Glomerulopathy, Abnormal aortic valve morphology, H... ORPHA:728
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Tuberous Sclerosis Complex
Abnormality of the kidney, Pheochromocytoma, Polycystic kidney dysplasia, Hepatic cysts, Renal ce... ORPHA:805
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hype... OMIM:252010
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Scapular winging, Elevated circulating creatine kinase concentration, EMG:... ORPHA:206569
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Recurrent urinary tract infections, Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Short sta... ORPHA:90153
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Kennedy Disease
Abnormal circulating lipid concentration, Skeletal muscle atrophy, Testicular atrophy ORPHA:481
Sheehan Syndrome
Breast hypoplasia, Reduced circulating prolactin concentration, Normochromic anemia, Hyposthenuri... ORPHA:91355
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Diabetes mellitus, Micropenis OMIM:241080
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, High palat... OMIM:255800
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Megalocornea-Intellectual Disability Syndrome
Short stature, Hypercholesterolemia, Osteopenia ORPHA:2479
Juvenile Huntington Disease
Weight loss ORPHA:248111
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy OMIM:617255
Hennekam Syndrome
Supernumerary tooth, Lymphadenopathy, Ectopic kidney, Short philtrum, Hypocalcemia, Delayed erupt... ORPHA:2136
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Urinary incontinence, Recurrent urina... OMIM:609033
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:614932
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Short stature, Carious teeth, Limb joint contracture, Ske... OMIM:612079
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Skeletal muscle atrophy OMIM:613710
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Hyperalaninemia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Increased LDL cholesterol conc... ORPHA:391665
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Crimean-Congo Hemorrhagic Fever
Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophilia, Hemop... ORPHA:99827
Neuhauser Syndrome
Short stature, Hypercholesterolemia, Osteopenia OMIM:249310
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Short stature, Growth delay, Skeletal muscle atrophy, Foot dorsiflexor weak... OMIM:616586
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Pfapa Syndrome
Weight loss ORPHA:42642
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Rhabdomyoly... ORPHA:509
Adenylosuccinase Deficiency
Elevated urinary succinylaminoimidazole carboxamide riboside level, Growth delay, Wide mouth, Ske... OMIM:103050
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Anterior hypopituitarism ORPHA:480
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipidemia, Enlarg... ORPHA:91
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, High palate, Coronary-pulmonary artery fis... OMIM:619699
Gnathodiaphyseal Dysplasia
Osteopenia, Thickened cortex of long bones ORPHA:53697
Liposarcoma
Weight loss ORPHA:69078
Marinesco-Sjögren Syndrome
Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Severe ... ORPHA:559
Graft Versus Host Disease
Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphad... ORPHA:39812
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Hepatomegaly, Failure to thrive, Splenomegaly, Patent ductus arteriosus, ... OMIM:230600
Alkaptonuria
Reduced bone mineral density, Black pigment gallstones, Nephrolithiasis, Thickened Achilles tendo... ORPHA:56
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Osteopenia, Ventral hernia, Inguinal hernia, Diabetes mellitus, Widened atr... ORPHA:536532
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Hypoplasia of penis, Facial palsy, Tracheoesophageal fistula, Short s... ORPHA:3068
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Familial Multiple Lipomatosis
Insulin resistance, Increased adipose tissue, Hyperlipidemia, Lipodystrophy ORPHA:199276
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy, Skeletal muscle atrophy, ... OMIM:614895
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Elevated circulating creatine... OMIM:254940
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Amyotrophic Lateral Sclerosis 2, Juvenile
Urinary incontinence, Retrocollis, Distal amyotrophy, Spasticity of facial muscles, Short stature... OMIM:205100
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:101078
Exstrophy-Epispadias Complex
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... ORPHA:322
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Cap Polyposis
Weight loss ORPHA:160148
Coccidioidomycosis
Abnormality of the kidney, Mediastinal lymphadenopathy, Lymphadenopathy, Panniculitis, Pancreatit... ORPHA:228123
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hydroureter, Delayed eruption of teeth, Hypoplasia of the musculature,... OMIM:305620
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Grange Syndrome
Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Bicuspid aortic valve... OMIM:602531
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Hypospadias, Facial diplegia, Facial palsy, Nemaline bodies, Arthro... ORPHA:171430
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Hypoplasia of penis, Aplasia/Hypoplasia involving the skeletal... ORPHA:899
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Weight loss, Abnormality of thrombocytes, Renal insufficiency,... ORPHA:79430
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Facial palsy, Abnormal autonomic nervous system physiology, Li... ORPHA:97229
Marinesco-Sjogren Syndrome
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Short stature, Centrally nuc... OMIM:248800
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn... ORPHA:101097
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Papillary renal cell carcinoma, Abnormal intrahepatic bile duc... ORPHA:363618
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Skeletal muscle atrophy OMIM:105300
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Retractile testis, Urinary incontinence, Widely spaced teeth, Elevated circulating... OMIM:617193
Zygomycosis
Myocarditis, Mediastinal lymphadenopathy, Pancreatitis, Gastritis, Renal insufficiency, Abnormal ... ORPHA:73263
Cranioectodermal Dysplasia 3
Cirrhosis, Nephronophthisis, Rhizomelia, Short stature, Stage 5 chronic kidney disease, Sagittal ... OMIM:614099
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Joint contracture, Skeletal muscle atrophy, Narrow palate OMIM:617481
3P25.3 Microdeletion Syndrome
High, narrow palate, Patent ductus arteriosus, Short philtrum, Coronary artery atherosclerosis, P... ORPHA:435638
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hermansky-Pudlak Syndrome 1
Cardiomyopathy, Gingival bleeding, Inflammation of the large intestine, Renal insufficiency, Colitis OMIM:203300
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Increased LDL cholesterol concentration,... OMIM:277460
Behçet Disease
Glomerulopathy, Pancreatitis, Lymphadenopathy, Recurrent aphthous stomatitis, Myositis, Oral ulce... ORPHA:117
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Breast aplasia, Short stature, Renal hypoplasia, Multiple lipomas, Ren... OMIM:181270
Aspartylglucosaminuria
Hepatomegaly, Abnormal cortical bone morphology, Inguinal hernia, Splenomegaly, Umbilical hernia,... ORPHA:93
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Orchitis, Proteinuria, Renal insufficiency ORPHA:761
Borjeson-Forssman-Lehmann Syndrome
Orofacial cleft, Hypoplasia of penis, Camptodactyly of toe, Decreased testicular size, Short stat... ORPHA:127
Juvenile Hyaline Fibromatosis
Gingival overgrowth, Progressive flexion contractures, Skeletal muscle atrophy, Gingival fibromat... ORPHA:2028
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:183050
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Flexion contr... OMIM:619183
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Skeletal muscle atrophy, Splenomegaly ORPHA:3162
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle fiber necrosis, Li... OMIM:616812
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Fasting hypoglycemia, Chronic kidney disease ORPHA:25
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Short stature, Enamel hypoplasia, Growth delay, Thickened cortex of l... OMIM:253250
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal cortical bone morphology, Osteoporosis, Splenomegaly, Elevated cir... ORPHA:2796
Rhabdoid Tumor
Hematuria, Weight loss ORPHA:69077
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... OMIM:615812
Acute Liver Failure
Acute kidney injury, Jaundice, Hepatic periportal necrosis, Hyperammonemia, Hepatocellular necros... ORPHA:90062
Scorpion Envenomation
Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Acute pancreatit... ORPHA:466677
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia... OMIM:218000
Au-Kline Syndrome
Vesicoureteral reflux, Sagittal craniosynostosis, Cryptorchidism, Failure to thrive, Hydronephros... OMIM:616580
Lynch Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Renal neoplasm, Ovarian neop... ORPHA:144
Mitochondrial Complex I Deficiency, Nuclear Type 17
High, narrow palate, Skeletal muscle atrophy OMIM:618239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:616479
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Short stature, Abnormal trabecular b... ORPHA:79106
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal... ORPHA:2926
Coffin-Lowry Syndrome
Optic atrophy, Narrow palate, Advanced eruption of teeth, Abnormal aortic valve morphology, Abnor... ORPHA:192
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho... OMIM:256700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Failure to thrive, Leukocytosis OMIM:618213
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:254875
Autosomal Recessive Spastic Paraplegia Type 26
Abnormality of the urinary system, Skeletal muscle atrophy ORPHA:101006
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:612577
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia,... ORPHA:667
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Cleft palate, High palate, Skeletal muscle atrophy, Tooth malposition OMIM:618603
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Glossitis, Recurrent urinary tract infections, Megaloblastic anemia, Thr... ORPHA:90045
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Thymic Carcinoma
Weight loss ORPHA:99868
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Short stature, Coronal craniosynostosis, Mild intrauterine growth... OMIM:616943
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Hypertyrosinemia, Ragged-red muscle fibers, Periportal fibrosis, Microvesicular hepa... OMIM:124000
Osteosarcoma
Weight loss ORPHA:668
Spinocerebellar Ataxia 1
Optic atrophy, Decreased sensory nerve conduction velocity, Distal amyotrophy, Urinary bladder sp... OMIM:164400
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Mcdonough Syndrome
Cachexia ORPHA:2471
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
High palate, Unilateral cryptorchidism, Short stature, Skeletal muscle atrophy, Thin upper lip ve... OMIM:618862
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Hydroureter, Hypospadias, Hypoplastic nipples, Ureteral stenosis, S... OMIM:269150
Leber Optic Atrophy And Dystonia
Optic atrophy, Skeletal muscle atrophy OMIM:500001
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, High palate, Abnormal heart morphology, Skeletal muscle atrophy, C... ORPHA:85323
Hypercholesterolemia, Familial, 3
Tendon xanthomatosis, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Sotos Syndrome
Ureteral duplication, Prolonged neonatal jaundice, Congenital posterior urethral valve, Umbilical... ORPHA:821
Tempi Syndrome
Abnormality of the kidney, Polycythemia, Increased hematocrit ORPHA:284227
Chronic Beryllium Disease
Weight loss ORPHA:133
Camurati-Engelmann Disease, Type 2
Delayed puberty, Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion co... OMIM:606631
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Congenital muscular torticollis, Broad alveolar ridges, Exaggerated c... ORPHA:2215
Serotonin Syndrome
Acute kidney injury, Rhabdomyolysis ORPHA:43116
Graves Disease
Weight loss OMIM:275000
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Urinary incontinence, Widely spaced teeth, Neurogenic bladder, Elevated circulatin... ORPHA:496641
Autosomal Recessive Multiple Pterygium Syndrome
Orofacial cleft, Abnormal aortic valve morphology, Hypoplasia of penis, Aortic aneurysm, High pal... ORPHA:2990
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Flexion contracture, Skeletal muscle atrophy, Tongue atrophy OMIM:614678
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Short stature, Renal h... OMIM:614527
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Hereditary Elliptocytosis
Postnatal growth retardation, Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poik... ORPHA:288
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia... OMIM:617052
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, S... OMIM:301072
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Allan-Herndon-Dudley Syndrome
Limb hypertonia, Short stature, Prolonged neonatal jaundice, Flexion contracture, Skeletal muscle... ORPHA:59
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Autosomal Recessive Spastic Paraplegia Type 20
Increased overbite, Distal amyotrophy, Dysuria, Upper limb muscle weakness, Short stature, Growth... ORPHA:101000
Rett Syndrome
Increased serum pyruvate, Abnormal autonomic nervous system physiology, Growth delay, Hyperammone... ORPHA:778
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Growth delay, ... OMIM:612561
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Enuresis nocturna, Short stature, Skeletal muscle atrophy, Dentinogenesis ... OMIM:614856
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Pontocerebellar Hypoplasia, Type 11
Short stature, Skeletal muscle atrophy, Anal atresia OMIM:617695
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Skeletal muscle hypertrophy, Elevated circulating creatine kinase conc... ORPHA:682
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy OMIM:618251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Atrial septal defect, Transposition of the great arteries, Cal... OMIM:253800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Cranio-Osteoarthropathy
Abnormal cortical bone morphology ORPHA:1525
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy ORPHA:269
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Farber Disease
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch... ORPHA:333
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Myopathy, Normochromic anemia, Macrocytic ... OMIM:615512
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, High palate, Hypospadias, Skeletal muscle atrophy OMIM:619272
Listeriosis
Myocarditis, Acute kidney injury, Jaundice, Liver abscess, Pyelonephritis, Splenic abscess, Peric... ORPHA:533
Christianson Syndrome
Cachexia ORPHA:85278
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Skeletal muscle ... OMIM:608390
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Costello Syndrome
Rhabdomyosarcoma, Lymphangiectasis, Thick lower lip vermilion, Ventricular septal defect, High pa... OMIM:218040
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal pa... OMIM:154500
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Nephrolithiasis, Hypokalemia, Skeletal muscle atrophy OMIM:219090
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Huntington Disease-Like 1
Weight loss ORPHA:157941
Holocarboxylase Synthetase Deficiency
Organic aciduria, Weight loss ORPHA:79242
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Cerebellar Ataxia, Cayman Type
Hypomimic face, Skeletal muscle atrophy OMIM:601238
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Cholelithiasis, Abnormal... ORPHA:273
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Skeletal muscle atrophy ORPHA:3239
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Stage 5 chronic... ORPHA:2752
Microhydranencephaly
Short stature, Generalized amyotrophy, Growth delay, Skeletal muscle atrophy, Multiple joint cont... OMIM:605013
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Delayed puberty, Hypoplasia of penis, Intestinal malrotation, Lo... ORPHA:199
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Carpal osteolysis, Wrist flexion co... OMIM:259600
Schwartz-Jampel Syndrome
Flexion contracture of toe, Wrist flexion contracture, Everted lower lip vermilion, Testicular to... ORPHA:800
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Thin bony cortex OMIM:619638
Bullous Pemphigoid
Weight loss ORPHA:703
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, High palate, Thick upper lip vermilion, Skeletal muscle atrophy, Cryptorchidism, M... OMIM:614969
Camurati-Engelmann Disease
Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Optic nerve compression, Delayed eruption o... ORPHA:1328
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Hyperuricemia ORPHA:2769
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Werner Syndrome
Neoplasm of the oral cavity, Renal neoplasm, Ovarian neoplasm, Aplasia/Hypoplasia of the testes, ... ORPHA:902
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Igg4-Related Aortitis
Hydronephrosis, Weight loss ORPHA:449400
Townes-Brocks Syndrome
Delayed puberty, Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Ves... ORPHA:857
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy ORPHA:2254
Takayasu Arteritis
Weight loss ORPHA:3287
Atrial Standstill
Muscular dystrophy, Cardiomyopathy, Abnormal heart morphology, Flexion contracture, Skeletal musc... ORPHA:1344
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Retrocollis, Lower-limb joint contracture, Distal amyotrophy, Upper-limb jo... ORPHA:300605
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro... OMIM:149730
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Mitral valve prolapse, Precocious atherosclerosis ORPHA:230839
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Pulmonic stenosis, Enamel hypoplasia, Short stature, Secundum atria... OMIM:615802
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Jaundice, Obesity, Diabetes mellitus, Cryptorchidism, Moderate albuminuria OMIM:614231
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Short stature, Growth delay, Skeletal muscle atrophy, Urinary retention ORPHA:447760
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Macrocytic anemia, Temporal optic disc pallor, Scapular winging, Skeletal muscle a... ORPHA:98673
Flynn-Aird Syndrome
Carious teeth, Atherosclerosis, Skeletal muscle atrophy ORPHA:2047
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis,... OMIM:607459
Kaposi Sarcoma
Weight loss ORPHA:33276
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Acanthocytosis, Limb... OMIM:200150
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Polyarteritis Nodosa
Weight loss ORPHA:767
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo... ORPHA:1876
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Reduced bone mineral density, Proteinuria, Patent ductus arteriosus, Cryptorchidism, Hiatus hernia OMIM:616682
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Open mouth, Skeletal muscle atrophy, Myopathy ORPHA:85329
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Aredyld Syndrome
Cachexia, Abnormality of the ureter ORPHA:1133
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Rhizomelic Chondrodysplasia Punctata, Type 5
Short stature, Contractures of the large joints, Skeletal muscle atrophy, Growth delay OMIM:616716
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Skeletal mu... ORPHA:98755
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Persistence of hemoglobin F, Umbilical hernia, Increased size of nasoph... OMIM:619769
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, Elevated circulating cre... ORPHA:254892
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Thin vermilion border, Skeletal muscle atrophy, Smooth philtrum OMIM:616420
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Dental crowding, Short stature, Growth delay, Thrombocytopenia, Sk... OMIM:620370
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Umbili... OMIM:107480
African Trypanosomiasis
Urinary incontinence, Jaundice, Lymphadenopathy, Hepatomegaly, Abnormal prolactin level, Hepatosp... ORPHA:3385
Localized Scleroderma
Abnormality of the kidney, Short dental root, Abnormality of the dentition, Esophagitis, Flexion ... ORPHA:90289
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Facial diplegia, Upper limb muscle weakness, Skeletal muscle at... ORPHA:254930
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Flexion contracture, Urinary incontinence, Skeletal muscle atrophy, Open mouth OMIM:300243
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, Limb hypertonia, High palate, Flexion contracture, Skeletal muscle atrophy... ORPHA:481152
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Tick-Borne Encephalitis
Elevated circulating hepatic transaminase concentration, Abnormal glossopharyngeal nerve morpholo... ORPHA:297
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial diplegia, Facial paralysis, Skeletal muscle atrophy, Paralytic ileus OMIM:613559
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy OMIM:616684
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Skeletal ... OMIM:162400
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Tetrasomy 12P
Cachexia ORPHA:884
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb muscle weakn... ORPHA:803
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Synaptic Congenital Myasthenic Syndromes
Triangular mouth, Scapular winging, Facial palsy, High palate, Hand muscle weakness, Skeletal mus... ORPHA:98915
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy ORPHA:276241
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Short stature, Decreased muscle mass, Cryptorchidism, Thin bony cortex OMIM:309583
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Rheumatoid Arthritis
Weight loss OMIM:180300
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Adrenal hyperplasia, Increased urinary cortisol level, Hypoglycemia, Increased circu... ORPHA:786
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Proximal amyotrophy, Skeletal muscle atrophy OMIM:608627
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
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
Native American Myopathy
Abnormality of skeletal muscle fiber size, High palate, Camptodactyly, Congenital contracture, Cr... ORPHA:168572
Oromandibular Dystonia
Weight loss ORPHA:93958
Klatskin Tumor
Weight loss ORPHA:99978
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Floating-Harbor Syndrome
Mesocardia, Microdontia, Nephrocalcinosis, Wide mouth, Congenital posterior urethral valve, Stage... ORPHA:2044
Perry Syndrome
Weight loss OMIM:168605
Wolman Disease
Cachexia ORPHA:75233
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hypospadias, Horseshoe kidney, Vesicovaginal fistula, Elevated serum 11-deoxycortis... OMIM:201750
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Facial diplegia, Triceps weakn... ORPHA:70
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Stüve-Wiedemann Syndrome
Osteopenia, Thickened cortex of long bones, Abnormal cortical bone morphology, Elbow flexion cont... ORPHA:3206
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Persistence of hemoglobin F OMIM:617101
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy ORPHA:276244
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Moebius Syndrome
Aplasia of the pectoralis major muscle, Breast aplasia, Facial palsy, Everted lower lip vermilion... ORPHA:570
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:88644
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Increased body weight, Weight... ORPHA:1501
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:96
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Increased circulating gonadotropin level, Streak ovary, Abnormality of p... ORPHA:168563
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Hypospadias ORPHA:217346
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Upper limb muscle weakness, Optic neu... ORPHA:320375
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Anal stenosis, Non-midline cleft o... ORPHA:647
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Skeletal muscle atrophy OMIM:221350
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin bony cortex, Umbilical hernia OMIM:617952
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Loeffler Endocarditis
Weight loss ORPHA:75566
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Urin... OMIM:146500
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Hand muscle atrophy, Skeletal muscle atrophy, Cranial nerve motor loss, Tongue atrophy OMIM:211530
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy ORPHA:98757
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Patent ductus arteriosus, Elbow flexion contracture, Proportionate sh... OMIM:608328
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle weakness, S... ORPHA:2912
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Short stature, Flexion contracture, Skeletal muscle atrophy, Optic disc pallor OMIM:300232
Familial Glucocorticoid Deficiency
Renal salt wasting, Failure to thrive, Hypernatriuria, Weight loss ORPHA:361
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Ruijs-Aalfs Syndrome
Short stature, Hepatocellular carcinoma, Elbow flexion contracture, Skeletal muscle atrophy OMIM:616200
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
8P23.1 Microdeletion Syndrome
Obesity, Hypospadias, Weight loss ORPHA:251071
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Pneumocystosis
Weight loss ORPHA:723
Pemphigus Vulgaris
Weight loss ORPHA:704
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb... OMIM:157640
Weill-Marchesani Syndrome 1
Short stature, Proportionate short stature, Thin bony cortex, Patent ductus arteriosus OMIM:277600
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Sternocleidomastoid amyotrophy, Micropenis, Osteopenia ORPHA:488434
Camurati-Engelmann Disease
Delayed puberty, Anemia, Optic nerve compression, Cranial nerve compression, Bone marrow hypocell... OMIM:131300
Arthrogryposis And Ectodermal Dysplasia
Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Short stature, Cl... OMIM:601701
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Weight loss ORPHA:400
Neu-Laxova Syndrome
Muscular dystrophy, Abnormality of the philtrum, Aplasia/Hypoplasia involving the skeletal muscul... ORPHA:2671
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy, Hypospadias ORPHA:813
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Corneal scarring, Growth delay, Chronic kidney disease, Atypical scarring of skin, Fascii... ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Thick lower lip vermilion, Hypospadias, Short philtrum, Oligodontia, High palate, ... OMIM:309590
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Polycythemia, Methemoglobinemia OMIM:250800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multipl... OMIM:618291
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, High palate, Nemaline bodies, Joint contracture, Skele... OMIM:620278
Cog8-Cdg
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Skeletal mus... ORPHA:95428
Felty Syndrome
Weight loss ORPHA:47612
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple, Skeletal muscle atrophy OMIM:617339
Polymyositis
Weight loss ORPHA:732
Short Syndrome
Weight loss ORPHA:3163
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary catecholamine level, Elevated urinary vanill... ORPHA:635
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Growth delay, Camptodactyly OMIM:249420
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Aortic rupture, Skeletal muscle atrophy, Bladder diverticulum, Patent ductus a... OMIM:614557
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Pancreatoblastoma
Weight loss ORPHA:677
Tay-Sachs Disease
Hip flexor weakness, Optic atrophy, Increased serum beta-hexosaminidase, Skeletal muscle atrophy,... ORPHA:845
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Budd-Chiari Syndrome
Weight loss ORPHA:131
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
17Q11 Microdeletion Syndrome
Delayed puberty, Osteopenia, Rhabdomyosarcoma, Thickened cortex of long bones, Pheochromocytoma, ... ORPHA:97685
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Aortic aneurysm, Abnormal large intestine morphology, Hamart... ORPHA:109
Congenital Myopathy 13
Weakness of facial musculature, High palate, Short stature, Downturned corners of mouth, Cleft pa... OMIM:255995
Rett Syndrome
Short stature, Abnormality of the dentition, Skeletal muscle atrophy OMIM:312750
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Spondyloocular Syndrome
Osteopenia, Decreased body weight, Unilateral cryptorchidism, Short stature, Thin bony cortex OMIM:605822
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria, Weight loss OMIM:301310
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Hypoplasia of penis ORPHA:85293
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:253310
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Tongue atrophy ORPHA:276198
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Distal lower limb muscle weakness, Upper limb muscle weakness, Optic neuropathy, Skeletal muscle ... OMIM:620538
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy OMIM:615157
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, High palate, Short stature, Bladder diverticulum, Skeletal muscle ... ORPHA:536545
L1 Syndrome
Aganglionic megacolon, Skeletal muscle atrophy ORPHA:275543
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Tongue atrophy OMIM:614153
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:603041
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy OMIM:617143
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Skeletal muscle atrophy, Patent urachus OMIM:618252
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Skeletal muscle atrophy OMIM:219080
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Japanese Encephalitis
Distal lower limb muscle weakness, Elbow flexion contracture, Facial palsy, Hyponatremia, Neutrop... ORPHA:79139
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Cardiomegaly, Polysplenia OMIM:620642
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Abnormal mitral valve morphology, Skeletal muscle atrophy, Short stature ORPHA:1969
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Caroli Disease
Polycystic kidney dysplasia, Weight loss ORPHA:53035
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Duane Retraction Syndrome
Ectopic kidney, Everted lower lip vermilion, Camptodactyly, Cleft palate, Skeletal muscle atrophy ORPHA:233
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Abnormality of... ORPHA:548
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Alveolar Echinococcosis
Renal cyst, Weight loss ORPHA:284
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Tropical Pancreatitis
Weight loss ORPHA:103918
Marfan Syndrome
Tricuspid valve prolapse, High, narrow palate, Aortic aneurysm, Aortic root aneurysm, Dental crow... ORPHA:558
Whipple Disease
Cachexia ORPHA:3452
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Q Fever
Hematuria, Weight loss ORPHA:781
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Thickened cortex of long bones, Elbow flexion contracture, Camptodact... OMIM:601559
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Riddle Syndrome
Enuresis nocturna, Weight loss ORPHA:420741
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Microsporidiosis
Urethritis, Cachexia, Nephritis, Weight loss ORPHA:2552
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Stickler Syndrome
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... ORPHA:828
Craniotubular Dysplasia, Ikegawa Type
Short stature, Thin bony cortex, Sclerosis of skull base OMIM:619727
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Trisomy 18
Cachexia, Hydronephrosis ORPHA:3380
Pontocerebellar Hypoplasia Type 7
Optic atrophy, High palate, Microphallus, Absent penis, Thick upper lip vermilion, Skeletal muscl... ORPHA:284339
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eos... ORPHA:99889
Malt Lymphoma
Weight loss ORPHA:52417
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria, Weight loss ORPHA:60025
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Weight loss OMIM:615846
Mucolipidosis Type Ii
Weight loss ORPHA:576
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Thin bony cortex OMIM:612731
Seckel Syndrome
Cachexia ORPHA:808
Rat-Bite Fever
Weight loss ORPHA:31205
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Reactive Arthritis
Weight loss ORPHA:29207
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, Elevated urinary epinephrine level, Urogenital sinus anomaly, Fai... ORPHA:90794
Primrose Syndrome
Delayed puberty, Thick lower lip vermilion, Knee flexion contracture, Distal amyotrophy, Narrow m... OMIM:259050
Ppoma
Weight loss ORPHA:97278
Somatostatinoma
Weight loss ORPHA:97283
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Glucagonoma
Weight loss ORPHA:97280
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Chronic Graft Versus Host Disease
Phimosis, Urinary bladder inflammation, Hematuria, Weight loss ORPHA:99921
Nocardiosis
Weight loss ORPHA:31204
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Dermatomyositis
Weight loss ORPHA:221
Choreoacanthocytosis
Weight loss ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Ectopic anterior pituitary gland, Coarse metaphyseal trabeculariz... OMIM:620558
Norrie Disease
Cachexia, Failure to thrive 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
Rrm2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rrm2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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