Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... |
OMIM:608709 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Lethargy, Failure to thri... |
ORPHA:26792 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Failure to thrive, Hepatomegaly |
ORPHA:28 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Leth... |
OMIM:143880 |
Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:619155 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Uraciluria, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... |
ORPHA:79303 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Hepatic steatosis, Generalized hirsutism |
ORPHA:79087 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Recurrent urinary tract infecti... |
OMIM:619487 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:617056 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Coliti... |
OMIM:614602 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... |
OMIM:613404 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight |
OMIM:618347 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hepatosplenomegaly, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thri... |
OMIM:611590 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Central Diabetes Insipidus |
|
Weight loss, Depression, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Recurrent pneumonia, Low anterior hairline, H... |
OMIM:617303 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... |
OMIM:609057 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Jaundice, Intermittent jaun... |
ORPHA:3111 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Skin rash |
ORPHA:26 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... |
ORPHA:139402 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... |
OMIM:276700 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase, Hepatomegaly, H... |
ORPHA:2394 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Lethargy, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, Depression, Elevate... |
ORPHA:247691 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinuria |
OMIM:605899 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Lethargy, Pancreatitis |
ORPHA:289916 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Decreased liver function, Lethargy, Failure to thrive, Homocitrull... |
OMIM:238970 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Renal insufficiency, Proteinuria, Nephrop... |
ORPHA:182050 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Hepatomegaly |
OMIM:618224 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive |
OMIM:304790 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... |
OMIM:300635 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Renal steatosis |
OMIM:261650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Synophrys, Long eyelas... |
OMIM:619064 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Failure to th... |
OMIM:210200 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Weight loss, Keratoconjunctivitis, Organic aciduria, Lethargy, Perioral eczema |
ORPHA:79242 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... |
OMIM:619603 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Decreased methionine synthase activity, Methylmalonic aciduria, Lethargy, Failure to thrive, Homo... |
OMIM:236270 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Lethargy, Hyperlysinuria |
OMIM:238750 |
Dihydropyrimidinase Deficiency |
|
Lethargy, Uraciluria, Reduced dihydropyrimidine dehydrogenase level |
OMIM:222748 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... |
ORPHA:347 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Increased bo... |
ORPHA:263455 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Lethargy, Hepatic failure |
ORPHA:156 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Lethargy, Failure to thrive, Hepatomegaly |
OMIM:613561 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He... |
ORPHA:91138 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Oliguria, Rena... |
ORPHA:97362 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti... |
OMIM:251000 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Decreased liver function, Hepatomegaly |
OMIM:246900 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Failure to thrive, Elevated circulating aspartate aminotran... |
OMIM:207900 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithias... |
OMIM:232200 |
Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hyp... |
ORPHA:202 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... |
ORPHA:2118 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arthritis, Cirrhosis, Lethargy |
OMIM:602390 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, H... |
OMIM:201475 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy, Small for gestational age |
OMIM:610498 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... |
ORPHA:47 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Pancreatitis, Hepatomegaly |
ORPHA:27 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content |
OMIM:610717 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Increased he... |
ORPHA:369 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Obesity |
OMIM:620195 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ne... |
ORPHA:37042 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated hepatic transa... |
OMIM:608836 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... |
OMIM:614034 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Failure to thrive, Ketonuria, Lethargy |
ORPHA:35706 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... |
ORPHA:171 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Renal insufficiency, Chronic active h... |
OMIM:203800 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Stage 5 chronic kidney disease, Fine... |
OMIM:242900 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Isolated Atp Synthase Deficiency |
|
Lethargy, 3-Methylglutaconic aciduria, Renal hypoplasia, Hepatomegaly |
ORPHA:254913 |
Riboflavin Deficiency |
|
Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, Pr... |
ORPHA:71212 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Propionyl-CoA c... |
OMIM:606054 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... |
OMIM:611182 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Lethargy, Congenital hepatic fibrosis, Abnormality of endocrine pa... |
ORPHA:79230 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Sta... |
ORPHA:1830 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Gracile Syndrome |
|
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Hepatic stea... |
ORPHA:53693 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy |
OMIM:617105 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatitis, Enuresis, Hepatic fibrosis, Hepatocell... |
ORPHA:247585 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... |
OMIM:278300 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Reduced number of intrahepatic bile... |
ORPHA:79284 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Lethargy, Abnormal renal corticomedullary differentiation, Hepatom... |
OMIM:617397 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hemolytic-uremic syndrome, Abnormality of the liver, Lethargy, Failure to thrive |
ORPHA:2169 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrome, Membr... |
OMIM:618999 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Prolonged prothrombin time, Lethargy |
OMIM:616483 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Lethargy, Infectious... |
ORPHA:83317 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive, Hepatomegaly |
OMIM:618226 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... |
ORPHA:381 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Obesity |
OMIM:615703 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Brittle hair, Methioninuria, Depression, Failure to thrive, Homocystinuria, Pa... |
OMIM:236200 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... |
OMIM:261680 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Abnormal fingernail morphology, Skin rash, Broad nail, Hepati... |
ORPHA:1334 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Aplasia of the bladder, ... |
ORPHA:158684 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... |
OMIM:253260 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... |
ORPHA:549 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno... |
ORPHA:440713 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Microscopi... |
ORPHA:77297 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Penile freckling |
ORPHA:210548 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Stomatitis, Chronic pancreatitis, Gout, Hematuria... |
OMIM:232240 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Sparse lateral eyebrow |
ORPHA:363523 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Decreased liver ... |
ORPHA:70472 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Lethargy, Hepatic steatosis |
OMIM:212138 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Lethargy, Focal pa... |
ORPHA:276575 |
Immunodeficiency 56 |
|
Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis d... |
OMIM:615207 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocuta... |
OMIM:240300 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Lethargy, Diffuse pancreatic islet hyperplasia, Large for gestational age |
ORPHA:276556 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hepatic failure |
OMIM:617872 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, 3-Methylglutaconic aciduria |
OMIM:618120 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia,... |
ORPHA:93111 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Sinusitis, Glomerulonephritis, Fasciitis... |
ORPHA:36234 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Propionyl-CoA carb... |
OMIM:210210 |
Huntington Disease-Like 2 |
|
Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Failure to thrive se... |
ORPHA:169160 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum... |
ORPHA:20 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Acne, Nephrolithiasis, Increased body weight, Depress... |
ORPHA:189427 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis |
ORPHA:525 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Lethargy, Diffuse pancreatic islet hyperplasia, Large for gestational age |
ORPHA:276580 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Methylmalonic aciduria, Lethargy, Failure to thrive, Homo... |
OMIM:614857 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Myositis, Skin rash, Discoid lupus rash, ... |
ORPHA:93552 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Maple Syrup Urine Disease |
|
Lethargy, Increased level of hippuric acid in urine, Pancreatitis |
OMIM:248600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol, Hepatomegaly |
OMIM:229700 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Let... |
OMIM:251110 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Reduced carnitine O-palmitoyltransf... |
ORPHA:228305 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Increased circulating lactate dehydrogenase concen... |
OMIM:614866 |
Melas |
|
Bipolar affective disorder, Proteinuria, Depression, Focal segmental glomerulosclerosis, Proximal... |
ORPHA:550 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Renal fibrosis, Lethargy, Decreased glomerular filtration rate, Hep... |
ORPHA:470 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Apat... |
ORPHA:465508 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Decreased methionine synthase activity, Small for gestational age, Skin rash, Cysta... |
OMIM:277380 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis |
OMIM:194380 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:311250 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Decreased liver function,... |
ORPHA:415 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli... |
ORPHA:228308 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Alopecia, Renal insufficiency, Proteinuria, Pericarditis, Chondriti... |
ORPHA:728 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eyebrow, Abnormal ... |
ORPHA:634 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... |
ORPHA:454836 |
Citrullinemia, Classic |
|
Hepatomegaly, Oroticaciduria, Cirrhosis, Lethargy, Failure to thrive |
OMIM:215700 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... |
OMIM:610199 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Lethargy, Hepatic f... |
ORPHA:159 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Elevated c... |
OMIM:277900 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Decreased methylmalonyl-Co... |
OMIM:251100 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Alpha-aminoad... |
OMIM:605711 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Prolonged prothrombi... |
ORPHA:99901 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... |
OMIM:614748 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, We... |
ORPHA:85450 |
Typhoid |
|
Hepatomegaly, Skin rash, Splenomegaly, Lethargy, Infectious encephalitis |
ORPHA:99745 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Neoplasm of the liver, Weight loss |
ORPHA:69077 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss |
ORPHA:654 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Eczema, Increased urinary sulfite level, Sulfite oxidase deficiency, Fine hair,... |
OMIM:272300 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... |
OMIM:209920 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive, Hepatic failure |
ORPHA:247525 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Enteroviral enc... |
OMIM:308230 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generalized ... |
ORPHA:317 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... |
OMIM:253270 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Depression |
OMIM:618093 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro... |
OMIM:277400 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ... |
ORPHA:469 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopl... |
ORPHA:1133 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria |
OMIM:243500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... |
OMIM:251300 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hepatomegaly |
ORPHA:927 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit... |
ORPHA:90368 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... |
ORPHA:829 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hype... |
OMIM:557000 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Lacti... |
OMIM:124000 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Meningococcal Meningitis |
|
Skin rash, Lethargy, Renal insufficiency, Infectious encephalitis |
ORPHA:33475 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Methylmalonic aciduria, Hepatomegaly |
OMIM:275350 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula... |
ORPHA:330001 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Lacticaciduria, Elevated urine aceto... |
OMIM:615751 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Paronychia, Low alkaline phosphatase, Lethargy, Al... |
OMIM:201100 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Prolonged prothrombin t... |
OMIM:614300 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Generalized hirsutism, Cirrhosis |
ORPHA:363400 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Urinary bladder sphincter dysfunction, H... |
ORPHA:52430 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syn... |
OMIM:212065 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ... |
ORPHA:1745 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Keratitis, Bronchiectasis, Hepati... |
ORPHA:1163 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Weaver Syndrome |
|
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypoplastic toena... |
ORPHA:3447 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail... |
ORPHA:1520 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct... |
OMIM:618329 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Hepatomegaly, Brittle hair, Hypospadias, Small for gestational age, Abnormality of th... |
OMIM:222470 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Splenomegaly, Pancreatitis, Abnormality of the nail, Hepatic steato... |
ORPHA:2348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... |
ORPHA:188 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous ... |
ORPHA:227990 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... |
ORPHA:1855 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypospadias, Recurrent pneumonia, Lethargy, Micropenis, Failure to thrive |
OMIM:607143 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Renal hypoplasia, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis |
ORPHA:589 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Hypospadias, Small for gestati... |
ORPHA:2959 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Osteoarthritis, Increase... |
ORPHA:2298 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Proteinuria, Nephrolithiasis... |
ORPHA:79259 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... |
OMIM:277410 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... |
OMIM:613385 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis |
OMIM:217090 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous ... |
ORPHA:227982 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Low anterior hairline, Low posterior hairline, Cirrhosis, Failure to thrive, Hepati... |
ORPHA:528 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Synophrys, Obesity, Hepatic steatosis, Generalized hirsutism |
ORPHA:254346 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Prolonged prothrombin time, Hydroureter |
OMIM:616559 |
Familial Hypoaldosteronism |
|
Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis, Lethargy, Failu... |
ORPHA:427 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Small for gestational age, Renal hypoplasia, Fine hair |
OMIM:616817 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas... |
OMIM:614091 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor... |
ORPHA:186 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Sparse eyebrow, Focal segmental glomeru... |
OMIM:619127 |
Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive, Proximal tubulopathy, Hepatomegaly |
ORPHA:2609 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Coarse hair, Re... |
OMIM:605309 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Nail dysplasia... |
ORPHA:79322 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism... |
OMIM:252930 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Evans Syndrome |
|
Lethargy, Jaundice |
ORPHA:1959 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjun... |
OMIM:269200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypoplastic toenails, Lethargy, Hepatomegaly |
OMIM:604377 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Mucopolysacchariduria, Hepatitis |
ORPHA:584 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Failure to thrive, Alopecia, Brittle hair, Hepatomegaly |
ORPHA:50812 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hepatomegaly |
OMIM:614299 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Panniculitis, Cirrhosis, Hepatic steatosis, Genera... |
ORPHA:79086 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis |
ORPHA:298 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, T... |
ORPHA:358 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hepatic f... |
OMIM:611126 |
Ebola Hemorrhagic Fever |
|
Lethargy, Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat... |
ORPHA:79128 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Failure to thrive in infancy, Cholestasis, Lethargy, Chronic hepatic f... |
ORPHA:746 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent urinary tract infections, Liver abscess, Psoriasiform dermatitis, Ch... |
ORPHA:183675 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, ... |
ORPHA:84064 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair |
ORPHA:1839 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Weight loss, Lethargy, Failure to thrive, Hashimoto thyroiditis |
ORPHA:199299 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis |
ORPHA:292 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Dengue Fever |
|
Lethargy, Skin rash, Hepatomegaly |
ORPHA:99828 |
Kawasaki Disease |
|
Abnormality of nail color, Pericarditis, Proteinuria, Skin rash, Myocarditis, Jaundice, Hepatitis... |
ORPHA:2331 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Toenail dysplasia, Stage 5 chronic k... |
ORPHA:2614 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... |
OMIM:300953 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Obesity, Abdominal obesity, Lethargy, Micropenis, Failure to thrive |
ORPHA:398079 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate wasting, Renal... |
ORPHA:562 |
Juvenile Huntington Disease |
|
Bradykinesia, Weight loss, Depression |
ORPHA:248111 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
Insulinoma |
|
Lethargy, Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Conjunctivitis, Lethargy, Eczematoid dermatitis, Decreased... |
ORPHA:79241 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow |
ORPHA:3242 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Nail dysplasi... |
ORPHA:217346 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:95716 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Infectious enc... |
ORPHA:319251 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Ketonuria, Failure to th... |
ORPHA:247598 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconjunctivitis s... |
OMIM:234050 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Hype... |
ORPHA:275761 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Acne inversa, Pili torti,... |
OMIM:301845 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, He... |
ORPHA:3261 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly |
OMIM:619013 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Pancreatitis, Cirrhosis, Hepatic steatosis, Generalized hirsutism |
ORPHA:79083 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni... |
ORPHA:79282 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Bipolar affective disorder, Depression, Bradykinesia, Abnormality ... |
ORPHA:254892 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria |
ORPHA:1933 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Cholera |
|
Abnormality of renal excretion, Aspiration pneumonia, Lethargy, Acute kidney injury, Decreased ur... |
ORPHA:173 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Hepatosplenomegaly, Weight loss, Salmon... |
OMIM:209950 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, Hepatomega... |
ORPHA:1304 |
Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Skin rash, Weight loss |
ORPHA:33355 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... |
OMIM:617595 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
ORPHA:94080 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hepatic steatosis, Hirsutism |
OMIM:604367 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Functional abnormality of the bladder, Bronchiectas... |
ORPHA:391487 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Depression, Hepatosplenomegaly, Recurrent pancrea... |
ORPHA:444490 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Cirrhosis, S... |
OMIM:614099 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Splenomegaly, Weight loss, Chronic otitis media |
ORPHA:3226 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Uncombable hair, Aplasia/Hypopl... |
ORPHA:3082 |
Chops Syndrome |
|
Curly hair, Thick hair, Splenomegaly, Synophrys, Obesity, Horseshoe kidney, Coarse hair, Long eye... |
OMIM:616368 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Concave nail, Fine hair, Small nail, Micropenis |
OMIM:300978 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Proteinuria, Sparse eyelashes, Hypoplastic toenails, Sparse eyebrow, Hematuria... |
OMIM:616901 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome... |
ORPHA:47612 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Sparse eyebrow, Microvesicular hepatic steatosis, Jaundice, Fi... |
OMIM:300855 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Obesity, Prolonged prothrombin time, Horizontal eyebrow, Hepatic steatosis |
ORPHA:96168 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hepatomegaly, Micropenis, Brittle hair |
OMIM:618810 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... |
OMIM:140000 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatospl... |
ORPHA:231226 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Prolonged neonatal jaundice, Depression |
ORPHA:99832 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hydronephrosis, Weight loss |
ORPHA:449400 |
Perry Syndrome |
|
Weight loss, Apathy, Depression |
ORPHA:178509 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive, Homocystinuria, Abnormal circulating enzyme concentration or activity |
ORPHA:395 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Splenomegaly, Lacticaciduria, Increase... |
OMIM:252010 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Giant Cell Arteritis |
|
Alopecia, Renal insufficiency, Pericarditis, Weight loss, Hematuria, Depression, Arthritis, Hepat... |
ORPHA:397 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... |
OMIM:307200 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:615381 |
3-Methylglutaconic Aciduria, Type Viib |
|
Prolonged prothrombin time, 3-Methylglutaconic aciduria, Hepatic steatosis, Recurrent pneumonia |
OMIM:616271 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormality of hair texture, Prolonged prothrombin time, Abnormali... |
ORPHA:88618 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroi... |
ORPHA:83471 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Inflammation of the large intestine, Weight loss |
ORPHA:26790 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Skin rash, Weight loss |
ORPHA:391 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... |
ORPHA:2036 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Multicystic kidney dysplasia |
OMIM:619980 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Recurrent skin infections, Brittle scalp hair, Eczema, Allergic ... |
OMIM:256500 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Obesity, Increased... |
ORPHA:98907 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Bronchiectasis, Cholestasis, Recurrent otitis media, Lethargy, Failure to thrive |
OMIM:620233 |
Listeriosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritoniti... |
ORPHA:533 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Eczema, Thyroiditis, Weight loss, Depression, Prolonged ... |
OMIM:212750 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis |
ORPHA:507 |
Necrotizing Enterocolitis |
|
Lethargy, Peritonitis, Small for gestational age |
ORPHA:391673 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Increased body weight, Abdominal obesity, Lethargy, Micropenis, Failure... |
ORPHA:398069 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... |
ORPHA:71 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Ogden Syndrome |
|
Lethargy, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Abnormality of the pancr... |
ORPHA:54251 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, C... |
OMIM:608594 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Perineal hy... |
ORPHA:66634 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss |
ORPHA:33276 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentrat... |
OMIM:619991 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive, Renal cyst, Hepatomegaly |
ORPHA:137675 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Failure to thrive... |
OMIM:613327 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... |
ORPHA:85443 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestatio... |
ORPHA:699 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Huntington Disease |
|
Weight loss, Bradykinesia, Depression, Apathy, Decreased body mass index |
ORPHA:399 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:617253 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis |
ORPHA:99867 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Nail dystrophy, Sparse hair, Abnormal ductus ... |
ORPHA:436252 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... |
OMIM:181270 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Thick hair, Jaundice, Hepatitis, Cholestasis, Bladder diverti... |
ORPHA:198 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Vesicou... |
ORPHA:96169 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
Glycerol Kinase Deficiency |
|
Lethargy, Increased urinary glycerol, Small for gestational age, Chronic pancreatitis |
OMIM:307030 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, C... |
OMIM:269700 |
Noonan Syndrome 4 |
|
Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, High anterior hairli... |
OMIM:610733 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Coarse hair, Mucopolysacchariduria, Thick eyebrow |
ORPHA:585 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss |
ORPHA:2126 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of ... |
OMIM:219800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias |
OMIM:620306 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Increased circulating lactate dehydrogenase concentration, ... |
ORPHA:447 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Encephalitis Lethargica |
|
Lethargy, Urinary incontinence |
ORPHA:83600 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Hydronephrosis, Fine hair |
ORPHA:3079 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Weight loss |
ORPHA:1842 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Ele... |
ORPHA:98850 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Small for gestational age, Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Renal hypoplasia, Abdominal obesity, Micropenis, Hepatic steatosis |
OMIM:619321 |
Acute Monoblastic/Monocytic Leukemia |
|
Increased circulating lactate dehydrogenase concentration, Oliguria, Weight loss |
ORPHA:514 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Failure to thrive, Small for gestational age, Eczema, Abnorma... |
OMIM:610443 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Renal steatosis, Obesity, Gout, Hepatic steatosis |
ORPHA:412 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, Depression, He... |
ORPHA:355 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infancy, Fine hair, De... |
OMIM:618891 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Low alkaline phosphatase |
OMIM:619985 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Fragile nails, Keratoconjuncti... |
OMIM:601675 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Opti... |
ORPHA:509 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss |
ORPHA:83469 |
Staphylococcal Necrotizing Pneumonia |
|
Acute infectious pneumonia, Lethargy, Pneumonia |
ORPHA:36238 |
Castleman Disease |
|
Renal insufficiency, Jaundice, Weight loss, Hematuria, Ureteral obstruction |
ORPHA:160 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Cholelithiasis |
ORPHA:171876 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Apathy, Weight loss |
ORPHA:134 |
Huntington Disease-Like 1 |
|
Bradykinesia, Weight loss, Depression |
ORPHA:157941 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Abnormal ... |
ORPHA:99776 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Truncal... |
OMIM:222700 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Weight loss, ... |
ORPHA:37 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Splenomegaly, Aminoaciduria, Brittle hair |
OMIM:616084 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Weight loss, Arthritis, Elevated circulating aldolase concentration, ... |
ORPHA:732 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Wei... |
ORPHA:100085 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Abnormality of the kidney, Low anterior hairline,... |
ORPHA:261318 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... |
ORPHA:99226 |
Turner Syndrome |
|
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... |
ORPHA:881 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss |
ORPHA:3287 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... |
ORPHA:900 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Prolonged neonatal jaundice, Failure to thrive, Depression |
ORPHA:90674 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Alopecia, Maculopapular exanthema, Portal hypertension, Erythe... |
ORPHA:797 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Hypospadias, Small for gestational age, Low anterior hairline, Horseshoe kidney, ... |
ORPHA:124 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss, Bradykinesia, Depression, Apathy |
ORPHA:411602 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:143 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Recurrent pneumonia, Hepatomegaly |
ORPHA:1329 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating l... |
OMIM:613673 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Large for gestational ag... |
OMIM:300868 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Pericarditis, Maculopapular exanthema, Skin r... |
ORPHA:99826 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Weight loss |
ORPHA:90060 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Thin nail, Short nail, Malformation of the hepatic ductal plate,... |
OMIM:218330 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Gm1 Gangliosidosis |
|
Splenomegaly, Weight loss, Hepatosplenomegaly, Decreased beta-galactosidase activity, Ganglioside... |
ORPHA:354 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the kidney, Hypoplastic toenails, Sparse eyebrow, Tubulointerst... |
ORPHA:459061 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... |
ORPHA:3260 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp... |
ORPHA:391408 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss |
ORPHA:1979 |
Perry Syndrome |
|
Bradykinesia, Weight loss, Apathy, Depression |
OMIM:168605 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Psoriasiform dermatitis, Enterocolitis |
OMIM:243150 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Noonan Syndrome 8 |
|
Curly hair, Failure to thrive, Eczema, Large for gestational age |
OMIM:615355 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia |
ORPHA:75233 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:226316 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss |
ORPHA:764 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Generalized hirsutism, Premature graying of hair, Hepat... |
ORPHA:280365 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Large for gestational age |
ORPHA:457485 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Abnormality of urine homeos... |
ORPHA:1501 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy... |
ORPHA:35687 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Hepatic failure, Hydronephr... |
ORPHA:100078 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis |
OMIM:308240 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Urethral stenosis, Fine hair, Premature graying of hair, Nail dyspl... |
OMIM:613990 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate e... |
OMIM:253220 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... |
ORPHA:324964 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... |
OMIM:102700 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Weight loss |
ORPHA:767 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Hepatic steatosis, Urinary incontinence |
OMIM:619934 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash morphology, Low p... |
ORPHA:1340 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... |
OMIM:619381 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Failure to thrive |
OMIM:610965 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Follicu... |
OMIM:167210 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Eec Syndrome |
|
Hypospadias, Slow-growing hair, Renal hypoplasia/aplasia, Sparse eyebrow, Keratitis, Nail pits, F... |
ORPHA:1896 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Uveitis, Depression, A... |
ORPHA:3452 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hypospadias, Fine hair |
ORPHA:363686 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Elevated circulating alkaline pho... |
OMIM:618268 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Abnormality of hair texture |
ORPHA:2752 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t... |
ORPHA:91500 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... |
ORPHA:64 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena... |
OMIM:270400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:435660 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Fa... |
ORPHA:261349 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,... |
OMIM:115150 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged prothrombin time, Keratoconjunctivitis sic... |
ORPHA:14 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Skin rash |
OMIM:618321 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Christianson Syndrome |
|
Cachexia, Thick eyebrow |
ORPHA:85278 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse ... |
OMIM:252940 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Fine hair, Small nail |
OMIM:611553 |
Exercise-Induced Malignant Hyperthermia |
|
Oliguria, Decreased liver function, Lethargy, Hepatic failure, Acute kidney injury |
ORPHA:466650 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Brittle hair, P... |
ORPHA:2750 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... |
ORPHA:117 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Bloom Syndrome |
|
Small for gestational age, Bronchiectasis, Malar rash, Hepatic steatosis, Hypertrichosis |
OMIM:210900 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Small for gestational age, Sle... |
OMIM:613658 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:90673 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnorma... |
ORPHA:1606 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... |
ORPHA:398063 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Enterocolitis, Cholestasis, Weight loss |
ORPHA:95427 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Renal neoplasm, Alopecia, Failure to thrive, Abnormal hair morphology, Ab... |
ORPHA:79474 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat... |
ORPHA:824 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute kid... |
ORPHA:29073 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Hydronephrosis, Fine hair |
ORPHA:85201 |
Lead Poisoning |
|
Small for gestational age, Skin rash, Chronic kidney disease, Depression, Renal tubular dysfuncti... |
ORPHA:330015 |
Medulloblastoma |
|
Elevated hepatic transaminase, Lethargy |
ORPHA:616 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Weight loss, Elevated circulating alkaline phosphat... |
ORPHA:67 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Increased hepatic glycogen content, Depression |
OMIM:619259 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive |
OMIM:615279 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Hall-Riggs Syndrome |
|
Coarse hair, Failure to thrive, Slow-growing hair, Thick hair |
ORPHA:2107 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Myocardit... |
ORPHA:319213 |
Acute Promyelocytic Leukemia |
|
Hematuria, Stomatitis, Weight loss |
ORPHA:520 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Thick eyebrow, Osteomyelitis, Hypospadias, Overweight, Synophrys, ... |
OMIM:619475 |
Graves Disease, Susceptibility To, 1 |
|
Onycholysis, Weight loss |
OMIM:275000 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Micropenis |
OMIM:619435 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Failure to thrive in infancy, Ectopic kidney, Biliary atresia, Obes... |
ORPHA:96149 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Stage 5 chronic kidney disease |
OMIM:608612 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney... |
ORPHA:340 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... |
OMIM:308300 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... |
OMIM:616263 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Angular cheilitis, Weight loss |
ORPHA:35858 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... |
OMIM:619573 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Insulinoma, Hypercalciuria, Nephrolithiasis, Weight loss, Depression, L... |
ORPHA:652 |
Digeorge Syndrome |
|
Renal insufficiency, Bipolar affective disorder, Acne, Unilateral renal agenesis, Seborrheic derm... |
OMIM:188400 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Abnormal hair pattern, Synophrys, Obesity |
ORPHA:85293 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Sparse eyebrow |
ORPHA:884 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Weight loss, Depression, Hep... |
ORPHA:440437 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Hypospadias, Abnormal hair pattern |
ORPHA:1786 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Failure to thrive, Hy... |
ORPHA:444072 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Renal salt wasting, Weight loss, Hypernatriuria, Failure to t... |
ORPHA:361 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia |
ORPHA:2047 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypop... |
ORPHA:1812 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Sparse eyebrow, Splenomegaly, Re... |
OMIM:252500 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Elevated circulating aspartate aminotransferase conce... |
OMIM:280000 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Adrenomyeloneuropathy |
|
Very long chain fatty acid accumulation, Urinary incontinence, Frontal balding, Fine hair, Urinar... |
ORPHA:139399 |
Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Pneumonia, Weight loss |
ORPHA:97287 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Trichinellosis |
|
Skin rash, Lethargy, Conjunctivitis, Apathy |
ORPHA:863 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Synophrys, Chronic otitis media, Micropenis, Pelvic kidney, Hepatic steatosis, Thoracic hypertric... |
OMIM:619503 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Pneumocystosis |
|
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral candidiasis, Incr... |
ORPHA:723 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Concave nail, Hypop... |
ORPHA:3071 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Weight loss, Increased circulating lactate dehydrogenase conc... |
ORPHA:370348 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia,... |
OMIM:311200 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Obesity, Fine hair |
OMIM:620250 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Pustule, Intrarenal abscess, Lethargy, Infectious encephalitis |
ORPHA:68 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Abnormal fingernail morphology, Hypospadias, Splenomegaly, Synophrys, Low anterior ... |
ORPHA:955 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100080 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis |
OMIM:615356 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Weight loss |
ORPHA:411703 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy, Urinary incontinence |
ORPHA:306674 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Renal insufficiency, Glomerulopathy, Proteinuria, Cheilitis, Proximal renal tu... |
ORPHA:534 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system |
ORPHA:813 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Small for gestational age, Abnormal hai... |
OMIM:133540 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... |
ORPHA:83617 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hirsutism |
OMIM:151660 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hepatic steatosis, Generalized hirsutism, Obesity |
ORPHA:91 |
Acute Adrenal Insufficiency |
|
Renal insufficiency, Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Weigh... |
ORPHA:95409 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Allergic rhinitis, Weight loss |
ORPHA:2070 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Oromandibular Dystonia |
|
Weight loss, Depression |
ORPHA:93958 |
Noonan Syndrome 7 |
|
Curly hair, Large for gestational age, Low posterior hairline |
OMIM:613706 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Weight loss, Enuresis nocturna, Arthritis, Otitis media, Recurren... |
ORPHA:420741 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Depression, Hepatocellular carc... |
ORPHA:144 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Abnormal fingernail morphology, Highly arched eyebrow, Thick hair, Hypop... |
ORPHA:444077 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Hepatosplenomegaly, Enthesitis, Weig... |
ORPHA:85408 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ... |
ORPHA:2710 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Thick hair, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hai... |
ORPHA:581 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Bronchiectasis, Weight loss, Hematuria |
ORPHA:60025 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100082 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Hypospadias |
OMIM:619184 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Weight loss |
ORPHA:2902 |
Smith-Kingsmore Syndrome |
|
Curly hair, Large for gestational age |
OMIM:616638 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Long eyelashes, Hypopigmentation of hair, Weight loss |
ORPHA:79430 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Failure to thrive, Hypospadias, Recurrent ... |
ORPHA:3455 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive |
OMIM:300986 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Hypospadias, Widow's peak, Low posterior hairline, Unilatera... |
OMIM:304110 |
Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Fasciitis, Phimosis, Urinary bladder inflammation, Bronc... |
ORPHA:99921 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypospadias, Eczema, Hypoplastic toenails, Low... |
ORPHA:235 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
Immunodeficiency 31C |
|
Hepatomegaly, Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidia... |
OMIM:614162 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive, Esophagitis, Abnormality of hair texture |
ORPHA:79351 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myoca... |
ORPHA:3385 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Bladder diverticulum, Prolonged neonatal jaundice, Spars... |
ORPHA:565 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Coarse hair, Recurrent otitis media, Frontal hirsutism, Failure to thrive, Hyd... |
OMIM:309350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Highly arched eyebrow, Microvesicular hepatic ... |
OMIM:220111 |
Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Intrahepatic cholestasis, Extrahepatic cholest... |
ORPHA:97280 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Abnormality of the liver, Bacterial endocarditis, Lethargy |
ORPHA:97214 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Abdominal situs... |
ORPHA:2108 |
Zttk Syndrome |
|
Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Horseshoe ki... |
OMIM:617140 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy, Prolonged neonatal jaundice |
ORPHA:226307 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Micropenis, Fine hair |
ORPHA:251028 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... |
OMIM:233450 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, White hair, Weight loss, Fine hair, Hepatosplenomegaly, Otitis media |
ORPHA:576 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Curly hair, Sparse scalp hair, Eczema, Large for gestational age, L... |
OMIM:607721 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Weight loss, Depression |
OMIM:137440 |
Ménétrier Disease |
|
Giant hypertrophic gastritis, Weight loss |
ORPHA:2494 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Splenomegaly, Sparse hair, Micropenis, ... |
OMIM:216400 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Nocardiosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy... |
ORPHA:31204 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... |
ORPHA:33364 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Iridocyclitis, Splenomegaly, Hypercalciuria, Uveitis, Weight loss, Bronchiectasis, ... |
OMIM:181000 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Keratoconjunctivitis sicca, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Alobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:220386 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Increased circ... |
ORPHA:90068 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... |
ORPHA:84 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low anterior hairline, Abnormality ... |
ORPHA:800 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss, Esophagitis |
ORPHA:913 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Increased intramyocellular ... |
ORPHA:79102 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:100075 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Coarse hair |
OMIM:130720 |
Juvenile Dermatomyositis |
|
Myositis, Alopecia, Skin rash, Pericarditis, Weight loss, Arthritis |
ORPHA:93672 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97278 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... |
OMIM:618278 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Addison Disease |
|
Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Weight loss, Failure to th... |
ORPHA:85138 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Unilateral renal hypoplasia, Long eyelashes, Horizontal eyebro... |
OMIM:619950 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat... |
ORPHA:79078 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Trisomy 18 |
|
Cachexia, Abnormal toenail morphology, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Elevated total serum tryptase, Weight loss |
ORPHA:98849 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Skin rash, Pustule, Splenomegaly, Myocardi... |
ORPHA:50918 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Glossopharyngeal Neuralgia |
|
Weight loss, Depression |
ORPHA:221098 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Hypospadias, Fine hair |
OMIM:305450 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Chime Syndrome |
|
Sparse hair, Abnormality of the kidney, Hydronephrosis, Fine hair |
ORPHA:3474 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Failure to thrive, Thick hair |
ORPHA:357074 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Frontal balding, Renal salt wasting, Long penis, Hirsutism, Elevated urinary epinephrine le... |
ORPHA:90794 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss |
ORPHA:90362 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97283 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Cachexia, Abnormal hair morphology, Recurrent pneumonia, Low anterior hai... |
ORPHA:647 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis |
OMIM:304150 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse h... |
ORPHA:920 |
Noonan Syndrome 14 |
|
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Recurrent pneumon... |
OMIM:234100 |
Chand Syndrome |
|
Curly hair, Hydroureter, Nail dysplasia |
ORPHA:1401 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Splenomegaly, Fine hair, Low posterior hairline, Hepatosplenomegaly, Spars... |
OMIM:613563 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Low anterior hairline, Lo... |
OMIM:601358 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Renal hypoplasia, Renal cyst, Fine hair, Pol... |
OMIM:210710 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow |
OMIM:620072 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97261 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97282 |
Poems Syndrome |
|
Weight loss, Leukonychia, Hypertrichosis |
ORPHA:2905 |
Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Abnormality of the spleen, Low posterior hairline, Coarse h... |
ORPHA:648 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Failure to thrive, Absent nipple, Small for gestational age, Synophrys, Low an... |
OMIM:612289 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Aspiration pneumonia, Decreased body weight, Spar... |
OMIM:602535 |
Infantile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia |
ORPHA:206436 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte... |
ORPHA:2388 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Urinary retention, Slender build, Elevated circulating aldo... |
ORPHA:1328 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Ectopic kidney, Hypoplastic fifth fingerna... |
OMIM:135900 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large... |
OMIM:301074 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Chronic rhinitis, Otitis media |
ORPHA:667 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Micropenis, Fine hair |
OMIM:241080 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Sparse hair, Sparse lateral eyebrow |
OMIM:309500 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Hypophosphaturia, Synophrys, Hypoplastic sweat glands, Hypocalciuria... |
ORPHA:73223 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Thin nail, Concave nail, Sparse hair, Failure to... |
OMIM:218040 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Depression |
OMIM:607459 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Sparse scalp hair, Pancreatic adenocarcinoma, Acne, Pancreatobl... |
ORPHA:99889 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Colitis, Weight loss |
ORPHA:309031 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Horseshoe kidney, Patchy a... |
OMIM:305600 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Increased circulating lactate dehydrogenase concentration, Weight loss |
ORPHA:747 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Bilatera... |
ORPHA:500150 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair |
ORPHA:935 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Myocarditis, Weight loss, Arthritis, Abnormality of the nail |
ORPHA:221 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Renal steatosis, Renal artery stenosis |
ORPHA:391665 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Proteinuria, Abnormal liver parenchyma morphology, N... |
ORPHA:79318 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Noonan Syndrome 1 |
|
Hypospadias, Failure to thrive in infancy, Synovitis, Low posterior hairline, Woolly hair |
OMIM:163950 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Hyperconvex nail, Small for gestational age, Phimosis... |
OMIM:613406 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic nipples, Renal dysplasia,... |
ORPHA:480880 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Curly hair, Low posterior hairline |
OMIM:605275 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacteria... |
ORPHA:2072 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Malt Lymphoma |
|
Posterior uveitis, Weight loss |
ORPHA:52417 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
Myhre Syndrome |
|
Small for gestational age, Obesity, Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Aspiration pneumonia, Weight loss |
ORPHA:2020 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Weight loss, Patchy alopecia... |
ORPHA:740 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Proteus Syndrome |
|
Cachexia, Splenomegaly, Long penis, Renal cyst, Abnormality of the nail, Generalized hirsutism |
ORPHA:744 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Weight loss |
ORPHA:91347 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, ... |
ORPHA:286 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weight, Thick eyebrow |
OMIM:303600 |
Stickler Syndrome |
|
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build |
ORPHA:828 |
Marfan Syndrome |
|
Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:75565 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |