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Gene: Hnf1a MGI:98504

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
HNF1 homeobox A
Synonyms:
Tcf1,  LFB1,  Hnf1alpha,  hepatocyte nuclear factor 1,  Hnf-1,  HNF1,  HNF1[a],  HNF1-alpha

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hnf1a mutations

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

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

The table below shows human diseases predicted to be associated to Hnf1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Fanconi-Bickel Syndrome
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulati... ORPHA:2088
Fanconi-Bickel Syndrome
Poor appetite, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Keto... OMIM:227810
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... OMIM:230350
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s... OMIM:620010
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... OMIM:207800
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... OMIM:616026
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties, Gro... ORPHA:79238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Argininosuccinic Aciduria
Hepatomegaly, Failure to thrive, Brittle hair, Dry hair, Elevated circulating aspartate aminotran... OMIM:207900
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Aminoaciduria, Vomiting, Sparse hair, Nausea, Hepatomegaly, Short statur... OMIM:222700
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... ORPHA:3111
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Fructose Intolerance, Hereditary
Bicarbonaturia, Vomiting, Hepatic steatosis, Reduced hepatic fructose-1,6-phosphate aldolase acti... OMIM:229600
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Hyperhidrosis, Renal Fanconi syndrome, Vomiting... ORPHA:263455
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... ORPHA:2394
Glycogen Storage Disease Ia
Decreased muscle mass, Fasting hypoglycemia, Decreased glomerular filtration rate, Hepatomegaly, ... OMIM:232200
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Short stature, Osteomalacia, Recurrent fractures, R... OMIM:613388
Citrullinemia, Classic
Hepatomegaly, Protein avoidance, Oroticaciduria, Hyperglutaminemia, Hyperammonemia, Episodic ammo... OMIM:215700
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketonuria, Short statur... ORPHA:2089
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Galactosemia Ii
Galactosuria, Hypergalactosemia, Prolonged neonatal jaundice OMIM:230200
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Recurrent fractures, Feedin... OMIM:239200
Argininosuccinic Aciduria
Abnormal hair quantity, Short stature, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, A... ORPHA:23
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... ORPHA:436271
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... OMIM:308990
Saccharopinuria
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... ORPHA:3124
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Organic aciduria, Constipation, Propionyl-CoA carboxy... ORPHA:35
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Conjugated hyperbilirubinemia, Renal cyst, Abnormal intrahepatic bile duct ... ORPHA:79303
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Rickets, Growth ... OMIM:615605
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Elevated circulati... OMIM:311250
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:230400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Dent Disease 2
Short stature, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin... OMIM:300555
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia OMIM:238750
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Hepatitis, Hyp... ORPHA:415
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Incre... ORPHA:890
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Dent Disease 1
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... OMIM:300009
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... ORPHA:3337
Glycogen Storage Disease Ib
Inflammation of the large intestine, Decreased glomerular filtration rate, Hepatomegaly, Short st... OMIM:232220
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Bicarbonaturia, Reduced bone mineral density, Nephrocalcinosis... ORPHA:47159
Hyper-Beta-Alaninemia
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia OMIM:237400
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Poor appetite, Short statu... OMIM:606054
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,... ORPHA:417
Threoninemia
Growth delay, Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo... OMIM:219800
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Saccharopinuria
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... OMIM:268700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Oroticaciduria, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyper... OMIM:620358
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acu... OMIM:238970
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Short stature, Osteomalacia, Inc... ORPHA:157215
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... ORPHA:411543
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... OMIM:619048
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... ORPHA:71212
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Elevated gamma-glutamyltransfer... OMIM:617093
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... ORPHA:3467
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Myo... ORPHA:26792
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Nephrogenic ... ORPHA:213
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Distal Renal Tubular Acidosis
Poor appetite, Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoa... ORPHA:18
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise... OMIM:201475
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Familial Isolated Hyperparathyroidism
Abdominal symptom, Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyp... ORPHA:99879
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, H... ORPHA:79312
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... ORPHA:97362
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d... OMIM:608836
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Abnormality of the kidney... ORPHA:79333
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Hyponatr... ORPHA:1667
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoacidu... OMIM:606528
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239510
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... OMIM:618892
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Valinemia
Hypervalinemia, Valinuria, Failure to thrive, Vomiting OMIM:277100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... ORPHA:276575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... OMIM:246450
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Elevated circulatin... ORPHA:159
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... ORPHA:99901
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Shor... OMIM:618120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic... OMIM:251000
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive, Severe short stature ORPHA:2278
Hypertryptophanemia
Camptodactyly of finger, Hypertryptophanemia, Aggressive behavior, Hypersexuality, Generalized jo... OMIM:600627
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib... OMIM:612286
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Mccune-Albright Syndrome
Gastroesophageal reflux, Aneurysmal bone cyst, Benign gastrointestinal tract tumors, Hyperthyroid... ORPHA:562
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatocellular necrosis, Hypoalbuminemia, Vomiting, Hepatic stea... OMIM:251880
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,... OMIM:615160
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Hypocalcemia, Autosomal Dominant 1
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... OMIM:601198
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Osteopenia, Proteinuria, Abnormal... ORPHA:369
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Diarrhea, Hyperammonemia, Renal tubular acidosis, Dysphagia, Failure to thrive OMIM:616457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Abnormal gas... ORPHA:234
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia OMIM:613646
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... ORPHA:228308
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... ORPHA:2298
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... ORPHA:247585
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Impaired social interactions, Hy... ORPHA:329249
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Gout, H... OMIM:300661
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction... ORPHA:289916
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... OMIM:212138
Juvenile Nephropathic Cystinosis
Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh... ORPHA:411634
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Flexion contractur... ORPHA:1194
Hydroxykynureninuria
Aminoaciduria, Vomiting, Jaundice OMIM:236800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Elevated urinary delta-aminolevulinic acid OMIM:206400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... ORPHA:79240
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... OMIM:309000
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... ORPHA:411629
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... ORPHA:79237
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... ORPHA:2260
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Hyperlysinuria OMIM:238700
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... ORPHA:446
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache... ORPHA:1933
Lesch-Nyhan Syndrome
Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Vomit... OMIM:300322
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
5-Oxoprolinase Deficiency
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase ... OMIM:260005
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Growth delay, Elevated circulating alkaline phosphatase... ORPHA:89937
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... OMIM:609560
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Hartnup Disorder
Hyperactivity, Short stature, Attention deficit hyperactivity disorder, Cutaneous photosensitivit... OMIM:234500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... OMIM:612075
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71526
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinem... OMIM:269920
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Short stature, Elevated circulating alkaline phosphatase concentration, Hypoph... OMIM:613312
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Alopecia, Hyperglycinuria... OMIM:210210
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Malabsorption, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Epiphyseal stippling, Decreased liver ... OMIM:614870
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl... OMIM:617156
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Jaundice, Low p... OMIM:615751
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Feeding difficulties in infancy, Acute hepatic ste... OMIM:210200
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia OMIM:613657
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function ORPHA:67048
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur... ORPHA:289504
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Gr... OMIM:615453
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Severe short stature, Osteopenia, Hyperca... OMIM:156400
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lipoatrophy, Progeroid facial appearance, Insulin resistance, Myopat... ORPHA:79087
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... OMIM:606824
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... OMIM:616828
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:232800
Glutamate-Cysteine Ligase Deficiency
Myopathy, Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H... OMIM:252150
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Chronic pancreat... OMIM:232240
Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime... OMIM:258900
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... OMIM:617253
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Cyanosis, Elevated circulating alanine aminotransferase co... OMIM:261680
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A... OMIM:137920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... OMIM:604273
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperammonemia, Feeding difficulties, 3-Methylglutaconic aciduria, Hyperalaninemia,... OMIM:614739
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic... OMIM:615703
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Glutamate Formiminotransferase Deficiency
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... OMIM:229100
Stimmler Syndrome
Short stature, Abnormal dental enamel morphology, Aminoaciduria, Type II diabetes mellitus, Intra... ORPHA:3199
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Anorexia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... OMIM:222100
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease,... ORPHA:488627
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Feeding difficulties in infancy, Hyperammonemia,... OMIM:251110
Malaria
Nausea and vomiting, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive pro... ORPHA:673
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Tiglic Acidemia
Aminoaciduria, Episodic abdominal pain OMIM:275190
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Fat malabsorption, Elevated gamma-glutamyltransferase level, Hypot... ORPHA:30391
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Osteomesopyknosis
Infertility OMIM:166450
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Fe... OMIM:251100
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hsd10 Disease, Infantile Type
Restlessness, Abnormal circulating enzyme concentration or activity, Cyanosis, Hypoglycemia, Card... ORPHA:391428
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypog... ORPHA:254913
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Elevated ... OMIM:261600
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid... OMIM:271980
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Hyperactivity, Short stature, Craniosynost... ORPHA:2203
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia OMIM:605899
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... ORPHA:20
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature, Osteoporosis, Muscular dystrophy OMIM:204730
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Elevated circulating alkaline phos... OMIM:193100
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... OMIM:241530
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Diarrhea, Hyperammonemia, Weight loss, Agitation... ORPHA:134
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Edinburgh Malformation Syndrome
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia, Frontal hirsutism OMIM:129850
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone min... ORPHA:172
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Diarrhea, Osteoporosis, Rickets, Proximal tubulopathy, Vomiting, Type I d... OMIM:560000
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Hyperhomocystinemia, Failure to th... OMIM:309541
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... OMIM:272300
Hereditary Coproporphyria
Dark urine, Hyponatremia, Proximal muscle weakness in upper limbs, Small intestinal dysmotility, ... ORPHA:79273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Leber Congenital Amaurosis 1
Hepatomegaly, Growth delay, Hyperthreoninuria, Eye poking, Hyperthreoninemia OMIM:204000
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Cystic Echinococcosis
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, El... ORPHA:400
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Ecchymosis, N... ORPHA:340
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:27
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:614727
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Decreased methionine synthase activity, Feeding difficulties in infancy, Hyper... OMIM:250940
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:620300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin... OMIM:618400
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Hep... OMIM:602579
Hyperbiliverdinemia
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... OMIM:614156
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... ORPHA:93126
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp... ORPHA:289176
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... OMIM:611881
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Failure to thrive, Proteinuria, Increased bone mineral density, Cac... ORPHA:77297
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Nausea and vomiting, Elevated hemoglobin A1c, Malabsorption, Feeding difficulties, Renal tubular ... OMIM:616539
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Feeding... OMIM:255100
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... ORPHA:79101
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Ddost-Cdg
Elevated hepatic transaminase, Osteopenia, Lipodystrophy, Nephrotic range proteinuria, Short stat... ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Proteinu... ORPHA:275555
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Cirr... OMIM:606069
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... OMIM:276700
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Vo... ORPHA:275761
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Pyruvate Carboxylase Deficiency
Anorexia, Vomiting, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Elevated... ORPHA:3008
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia... ORPHA:927
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Recur... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... OMIM:617950
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Abdominal distention, Renal cyst, Elevated circulating alkaline phospha... OMIM:174050
Gitelman Syndrome
Salt craving, Polyuria, Abdominal pain, Renal magnesium wasting, Rhabdomyolysis, Growth delay, En... OMIM:263800
Variegate Porphyria
Abdominal pain, Porphyrinuria, Increased urinary porphobilinogen, Increased fecal protoporphyrin ... OMIM:176200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Elevated circulating long chain fatty acid concentr... OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Oncogenic Osteomalacia
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p... ORPHA:352540
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Poor appetite, Gastrointestinal dysmotility, Ragged-red muscle fibers, Vom... ORPHA:298
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aci... OMIM:557000
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... ORPHA:2118
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... ORPHA:480864
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Skeletal muscle atrophy, Small for gestational age, Elevated circulating ... OMIM:612073
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased circulating T4 concentration, Cryptorchidism, Abdominal distention, Diarr... OMIM:608104
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria OMIM:309930
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... OMIM:252160
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Renal tubular... ORPHA:156
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... OMIM:612526
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Babesiosis
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Limitat... ORPHA:108
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific... OMIM:300554
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Joint cont... OMIM:214110
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... OMIM:616878
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Long eyelashes, Hypocalcemia, Hypogonadi... ORPHA:163693
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of the liver, Elevated hepatic iron concent... ORPHA:231222
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Small for gestational age, H... OMIM:615471
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... OMIM:236270
Carnosinemia
Carnosinuria OMIM:212200
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Feeding difficulties in infanc... ORPHA:324525
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Hyperphosphaturia, Short stature, Recurrent fractures, Horseshoe kidney, Gr... OMIM:163200
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria, White hair, Positive ferric chloride test OMIM:250900
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabet... OMIM:615238
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Abdominal p... ORPHA:91547
Secondary Short Bowel Syndrome
Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Vomiting, Abnormal smal... ORPHA:95427
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... ORPHA:1133
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Small for gestational age, Hypercalcemia, Short stature, Splenomega... OMIM:618440
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... OMIM:231900
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynos... OMIM:241500
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Feeding difficulties, 3-Methylglutaconic aciduria, B... OMIM:618329
Mercaptolactate-Cysteine Disulfiduria
High, narrow palate, Aminoaciduria, High palate OMIM:249650
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Postnatal growth retardation, Nasogastric tube feeding in... ORPHA:391417
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short statur... OMIM:239000
Myasthenia Gravis
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Dysphagia, Abnormal thymus m... ORPHA:589
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... OMIM:619256
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:608594
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Feeding diff... OMIM:246900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:619685
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi... OMIM:620085
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... ORPHA:79474
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Vomiting, Hypocalc... OMIM:619991
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Severe short ... OMIM:610965
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Vomiting, Distal renal tubu... OMIM:602722
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Self-mutilation, Hypothyroidism... OMIM:619487
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:614876
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Proximal muscle weaknes... ORPHA:99845
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Nephr... ORPHA:100024
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Cholangitis, Feeding difficulties in infancy, Microvesicular hepatic steatosis, Rag... OMIM:124000
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:269700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal Fanconi syndrome, Hepatic steatosis, Hypothyroidism, Glomerulopathy, Multicystic kidney dys... ORPHA:93111
Homocarnosinosis
Carnosinuria OMIM:236130
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Low anterior hairlin... OMIM:608779
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Cutis marmorata, Homocystinuria, Methioninuria, Limitation of join... OMIM:236200
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Encephalopathy Due To Sulfite Oxidase Deficiency
Feeding difficulties in infancy, Aminoaciduria, Nausea and vomiting ORPHA:833
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cr... OMIM:614732
Biotinidase Deficiency
Hepatomegaly, Alopecia, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Hyperammonemia, ... OMIM:253260
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Decreased serum iron, Abnor... ORPHA:447
Glutaric Acidemia Type 3
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... ORPHA:35706
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Feeding difficulties, Dysph... OMIM:618253
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Congenital Generalized Lipodystrophy
Adipose tissue loss, Low anterior hairline, Hepatic steatosis, Hepatomegaly, Insulin resistance, ... ORPHA:528
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hepatic... ORPHA:79259
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Cystathioninuria
Cystathioninuria OMIM:219500
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting... OMIM:125800
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cataract 47
Glycosuria OMIM:612018
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Chronic kidney disease, Ob... OMIM:615630
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting... OMIM:304800
Phenylketonuria
Aminoaciduria ORPHA:716
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness ORPHA:3129
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Impulsivity, Cryptorchidism, Flexion contracture, Ob... OMIM:615547
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... ORPHA:79086
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau... ORPHA:75234
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteron... OMIM:612780
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Petechiae, Splenomegaly, Jaund... ORPHA:540
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Vo... ORPHA:79159
Lambert Syndrome
Inguinal hernia, Hypospadias, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic b... ORPHA:1296
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Abdominal colic, Anorexia, Nausea, Abdominal pain, Pan... ORPHA:521219
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel h... OMIM:307800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Glossitis, Small fo... OMIM:277380
Citrullinemia Type I
Torticollis, Hyperammonemia, Feeding difficulties, Vomiting, Gastroesophageal reflux, Hepatic fai... ORPHA:247525
Familial Expansile Osteolysis
Osteolysis, Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria, Pathologi... OMIM:174810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... ORPHA:26793
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias, Inguinal hernia OMIM:245550
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Increased feca... ORPHA:100924
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Portal h... ORPHA:367
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Inguinal herni... OMIM:614857
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... OMIM:241200
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Hepatic necros... OMIM:231530
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar... ORPHA:2774
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjuga... OMIM:211600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglyc... OMIM:220120
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level OMIM:266130
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Feeding difficulties, Asci... OMIM:614702
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Ragged-... OMIM:607426
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Bilateral fetal pyelectasis, Increased ur... OMIM:606812
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu... OMIM:614922
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa... OMIM:246200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ... ORPHA:52430
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... OMIM:615980
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Generali... ORPHA:171
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hypogl... ORPHA:79282
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... OMIM:610199
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen... ORPHA:90051
Renpenning Syndrome
Skeletal muscle atrophy, Alopecia, Diabetes mellitus, Hypospadias, Abnormal hairshaft morphology,... ORPHA:3242
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Osteoporosis, ... ORPHA:189427
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... OMIM:264700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hematuria, Hypoalbuminemia, Decreased liver function, Intrauterine gro... OMIM:617021
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Vom... OMIM:616483
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Small for gestational age, Hypospadias, Gastroparesis, Hyperammonemia, Growth de... OMIM:614052
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa... OMIM:251290
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Eleva... ORPHA:466677
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased urinary urate, Hypouricemia, Unusual gastrointestinal infection ORPHA:760
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... OMIM:601847
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Nausea, Reactive h... ORPHA:469
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... ORPHA:79320
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Cachexia, Anorexia, Abdominal pain, Splenomegaly, D... ORPHA:2930
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, I... OMIM:215600
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Elevated alkaline phosphatase of bone origin, Short stature, Osteomalacia, Post... ORPHA:289157
Multiple Mitochondrial Dysfunctions Syndrome 3
Feeding difficulties, High palate, Hyperglycinemia, Arthrogryposis multiplex congenita, Beta-amin... OMIM:615330
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Oligomenorrhea OMIM:613877
Galactosemia Iv
Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
2,4-Dienoyl-Coa Reductase Deficiency
Feeding difficulties, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reductase activity, Decreased... OMIM:616034
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Cholangiocarcinoma
Anorexia, Abdominal pain, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenome... OMIM:232500
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Splenom... ORPHA:812
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... OMIM:268315
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Vomiting, Decreased liver function, Neonatal death, Myoglobinuria OMIM:602199
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Attention de... ORPHA:369873
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypopl... ORPHA:453533
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Nausea and vomiting, Craniosynostosis... ORPHA:525731
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... OMIM:605850
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Vomiting, Failure to thrive OMIM:237310
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hepatic failure, Hyperammonemia OMIM:618567
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency ORPHA:254857
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Prominent superficial blood vessels, Short stature, Joint hypermobility, Cryptor... OMIM:219150
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il... ORPHA:810
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size OMIM:614962
Alkaptonuria
Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoulder movement,... OMIM:203500
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Intractable diarrh... OMIM:222470
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Neonatal death, Hyperala... OMIM:619003
Holocarboxylase Synthetase Deficiency
Alopecia, Feeding difficulties in infancy, Hyperammonemia, Organic aciduria, Vomiting, Elevated u... OMIM:253270
Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Feeding difficulties, I... OMIM:615501
Porphyria Variegata
Elevated hepatic transaminase, Hyponatremia, Neurogenic bladder, Abnormal circulating enzyme conc... ORPHA:79473
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophage... OMIM:613658
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Urocanase Deficiency
Short stature, Urocanic aciduria, Aggressive behavior OMIM:276880
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Complex organ... ORPHA:506
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... OMIM:613677
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Anorexia, Elevated circulating C-reactive protein concentration, Abdominal pa... ORPHA:91500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Aggressive behavior, 3-Methylglutaconic aciduria, Failure to thrive, Slende... ORPHA:505216
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Glutathionuria
Reduced gamma-glutamyltransferase level, Constipation, Urinary incontinence, Glutathionuria OMIM:231950
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Feeding difficulties, Growth delay, Aminoaciduria, Elevated hepatic... OMIM:614946
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Hashimoto thyroiditis, Jaundice, Fulm... OMIM:618549
Wolman Disease
Nausea and vomiting, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Abdominal diste... ORPHA:75233
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Poor appetite, Nausea, Diarrhea, Elevated circulating creatinine c... ORPHA:542323
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,... ORPHA:2348
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Recurrent fractures, Aciduria, Cal... ORPHA:416
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Short stature, Synophrys, Abnormal renal morphology, Self hu... OMIM:182290
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Joint laxity, Diabetes mellitus, Cho... ORPHA:541423
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Aggressive behavior, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria... OMIM:617698
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Parathyroid Carcinoma
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:143
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... OMIM:170100
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria OMIM:258501
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... OMIM:274150
Combined Oxidative Phosphorylation Deficiency 5
Growth delay, Ascites, Hyperammonemia, Abnormal renal tubule morphology OMIM:611719
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, Nail dystrophy, Proportionate short stature ORPHA:99688
Adrenomyodystrophy
Short stature, Megacystis, Primary adrenal insufficiency, Reduced bone mineral density, Myopathy,... ORPHA:977
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Short stature, Highly arched eyebrow, Abnormal repetitive man... ORPHA:228402
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... OMIM:243910
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic stea... OMIM:613327
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive, Feeding difficulties OMIM:250620
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decreased liver function, Failur... OMIM:614883
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Sp... ORPHA:549
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Bilateral cryptorc... ORPHA:66634
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Feeding diffi... OMIM:605711
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Gastroesophageal... ORPHA:70472
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Neoplasm of the live... ORPHA:2126
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom... OMIM:239199
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria OMIM:614265
3-Methylglutaconic Aciduria Type 3
3-Methylglutaconic aciduria ORPHA:67047
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Rhabdomyolysis, Myopathy, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Feed... OMIM:619055
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... OMIM:616222
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... OMIM:251120
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor... ORPHA:1979
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal o... ORPHA:160
Leprechaunism
Skeletal muscle atrophy, Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Re... ORPHA:508
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, ... OMIM:600001
Developmental And Epileptic Encephalopathy 82
Feeding difficulties in infancy, Short stature, Hyperammonemia, Decreased body weight OMIM:618721
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Hepatic steatosis, Bi... OMIM:614921
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:620138
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Protruding tongue... OMIM:214100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Short stature, Cryptorchidism, Aminoaciduria, Gastroesophageal reflux OMIM:249270
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammati... ORPHA:39812
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia, Poor suck OMIM:615026
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... OMIM:277400
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Sparse hair, Lower limb muscle we... OMIM:606721
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Porphyria, Congenital Erythropoietic
Osteopenia, Hepatomegaly, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Jaundice, Loss o... OMIM:263700
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Feeding difficulties in infancy, Flexion contracture, Renal cyst, He... OMIM:212065
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria, Abnormal hair morphology ORPHA:414
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Feeding difficulties, Intrauter... OMIM:613861
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Methylmalonic aciduria, Feeding d... OMIM:614105
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, L-2-hydroxyglutaric aciduria OMIM:236792
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Chronic... OMIM:613489
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... OMIM:231670
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle w... OMIM:251900
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Infertility OMIM:240950
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Hyperhidrosis, Vomiting, ... ORPHA:17
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis l... OMIM:256810
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Renal hypoplasia, Feeding difficulties, Nephr... OMIM:617913
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi... OMIM:614723
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Maple Syrup Urine Disease
Hypoglycemia, Increased level of hippuric acid in urine, Elevated circulating branched chain amin... OMIM:248600
Urocanic Aciduria
Urocanic aciduria, Abnormal circulating histidine concentration ORPHA:210128
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardati... ORPHA:73272
Hawkinsinuria
Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ... OMIM:140350
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties, Acro... OMIM:602473
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Elevated circu... ORPHA:95717
Pseudohypoparathyroidism Type 1C
Calcinosis, Abdominal symptom, Increased bone mineral density, Short stature, Decreased response ... ORPHA:79444
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Erythema, ... OMIM:614748
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Short stature, P... OMIM:208500
Laron Syndrome
Hypoplasia of penis, Severe short stature, Hypoglycemia, Prematurely aged appearance, Abnormality... ORPHA:633
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage... OMIM:618348
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... ORPHA:858
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati... ORPHA:95716
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly... ORPHA:404454
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... ORPHA:941
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... OMIM:618416
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Generalized hirsutism, Loss of fa... ORPHA:79083
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Comp... ORPHA:398069
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:99880
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Very long chain fatty... ORPHA:912
Tyrosinemia, Type Iii
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, H... OMIM:276710
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Postnatal growth ... ORPHA:96184
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph... OMIM:612089
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Abdominal pain, Intestinal perforation, Peritonitis, Diarrhea, Elevated cir... ORPHA:90038
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Renal hypoplasia/aplasia, Hypocalcemia, Intrauterine growth reta... ORPHA:1438
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Abdominal pain, Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonge... OMIM:300908
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Abnormal mesen... ORPHA:284
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, ... OMIM:248370
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria OMIM:615228
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, He... OMIM:194380
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Neonatal hyperbilirubinemia, Hiatus hernia, Urinary urgency,... OMIM:609727
Apparent Mineralocorticoid Excess
Renal insufficiency, Failure to thrive, Short stature, Abnormal urine sodium concentration, Nephr... ORPHA:320
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Peptic ulce... OMIM:145981
Mevalonic Aciduria
Elevated hepatic transaminase, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Short stature, Postna... ORPHA:813
Congenital Disorder Of Glycosylation, Type Ir
Osteopenia, Chronic constipation, Gastroesophageal reflux, Decreased liver function, Failure to t... OMIM:614507
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Hypersplenism, Abdominal pain, Diarrh... ORPHA:98850
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Cryptorchidism, Feeding difficulties, Self-injurious behavior, Vomiting, Ski... OMIM:618512
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Jaundice, Feeding difficultie... OMIM:614872
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Weight loss, H... ORPHA:69077
Acute Intermittent Porphyria
Urinary incontinence, Hyponatremia, Proximal muscle weakness in upper limbs, Abdominal pain, Porp... ORPHA:79276
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Xerostomia, Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releas... ORPHA:398079
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Ectopic kidney, Sparse eyebrow, Abnormal hair... ORPHA:634
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Hypoa... ORPHA:99826
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... ORPHA:731
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... OMIM:617671
Christianson Syndrome
Decreased muscle mass, Cachexia, Feeding difficulties in infancy, Joint hyperflexibility, Gastroe... ORPHA:85278
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Flexion contracture, Limitation of joint mobility, Feeding dif... ORPHA:157973
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... ORPHA:254531
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Hypercholesterolemia, Cholangitis,... ORPHA:69663
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Lacticaciduria, Hyperprolinemia ORPHA:79246
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase level,... ORPHA:54057
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Myasthenic Syndrome, Congenital, 22
Feeding difficulties, Short stature, Decreased response to growth hormone stimulation test, Cysti... OMIM:616224
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec... ORPHA:1655
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Hypergon... OMIM:614963
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hernia, Hyperbilirubinemia, Abnormality of the lower u... ORPHA:101009
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Hyperkalemia, Growth delay, In... OMIM:203400
Familial Hyperprolactinemia
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Feedin... OMIM:619013
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
3-Methylglutaconic aciduria OMIM:614053
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Myositis, Cachexia, Anorexia, Abdominal ... ORPHA:3452
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Lack of facial subcutaneous fat, Gastroesophageal reflux... ORPHA:2959
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ... OMIM:203700
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the ... ORPHA:834
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Jaundice OMIM:301015
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Aminoaciduria, High palate, Umbilical hernia, Failure to th... OMIM:614520
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Abnormality of th... ORPHA:95715
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... OMIM:618183
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Splenomegaly, Jaundice, Malnutrition, Steatorrhea, Calvarial hyperostos... OMIM:612714
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hypothyroidism, Hepatosplenomegaly, Weigh... OMIM:613673
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Growt... OMIM:610600
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Hyperhomocystinemia, Elevat... ORPHA:79284
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... ORPHA:653
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Obesit... ORPHA:90041
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Malabsorption, Chronic kidn... ORPHA:85445
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... OMIM:616719
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Li... ORPHA:89936
3-Methylglutaconic Aciduria, Type I
Failure to thrive, Urinary incontinence, 3-Methylglutaconic aciduria, Self-mutilation OMIM:250950
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Decreased response to growth hormone stimulation test, Feeding... OMIM:176270
Peroxisome Biogenesis Disorder 8B
Very long chain fatty acid accumulation, Elevated circulating phytanic acid concentration, Consti... OMIM:614877
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-indepen... ORPHA:405
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Constipation, Umbil... ORPHA:2349
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c... ORPHA:210548
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Abdominal mass, Abdominal pain, Diarrhea, Elevated urinary ... OMIM:256700
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abdominal pain, Abnormality of the panc... ORPHA:69665
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Ectodermal dysplasia, Aminoaciduria, Hypogonadism, Hypoplastic nipples, Sparse hair OMIM:273400
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis, Obesity, Polydipsia OMIM:615994
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Knee ... OMIM:609220
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Short stature, Elevated circulating asp... OMIM:257200
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Increased total bilirubin ORPHA:90037
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Feeding difficult... ORPHA:445038
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Feeding difficulties in infancy, Renal cyst, High palate, Elevated... OMIM:614866
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level ORPHA:930
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia, Intrauterine growth retardation OMIM:610678
Sialidosis Type 2
Skeletal muscle atrophy, Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion cont... ORPHA:87876
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Increased urine succinate level,... OMIM:615182
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Cholecystitis, Incr... ORPHA:778
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Hypospa... OMIM:252010
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Feed... ORPHA:819
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Subcutaneous hemorrhage OMIM:603585
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Cyanosis, Failure to thrive in infancy, Elevated alkaline phosphatase of bone ... ORPHA:51608
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... ORPHA:361
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Biotinidase Deficiency
Alopecia, Hyperammonemia, Organic aciduria, Limb muscle weakness, Decreased circulating biotinida... ORPHA:79241
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Feeding difficulties OMIM:616672
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase ... ORPHA:99829
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
Glutamine Deficiency, Congenital
Hypoglutaminemia, Erythema, Flexion contracture, Hyperammonemia, Camptodactyly, Neonatal death OMIM:610015
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Synophrys, Low anterior hairline, Self-injurious behavior, Long eyelashes,... OMIM:618828
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Constipation, ... ORPHA:90674
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... ORPHA:251274
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... OMIM:616733
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Oligosacchariduria, Nephroca... ORPHA:534
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... OMIM:500009
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism... ORPHA:255210
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Short stature, Feeding difficulties in infancy, Obesity, Polyphagia ORPHA:177910
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He... OMIM:613313
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Feeding difficulties in infancy, Hypothyroidism, Obes... ORPHA:261229
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... ORPHA:300605
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu... ORPHA:85138
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... OMIM:612469
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Small for gestational age, Hypoglycemia, Highly arched e... OMIM:220111
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Hematemesis, Intestinal ... ORPHA:464321
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Abnormal large int... ORPHA:2198
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Teratoma, Pineal
Abnormal abdomen morphology, Polydipsia, Polyuria OMIM:273120
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Abdominal distention, Diarrhea, Steatorrhea,... ORPHA:71
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short statu... OMIM:614376
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Pelvic mass, Anorexia, Elevated carci... ORPHA:370348
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Inguinal hernia OMIM:250951
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Feeding difficulties in infancy, Congeni... ORPHA:191
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... OMIM:277410
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... OMIM:614736
Mandibuloacral Dysplasia
Glucose intolerance, Increased intraabdominal fat, High palate, Sparse hair, Alopecia, Increased ... ORPHA:2457
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... OMIM:154020
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, El... OMIM:602080
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... OMIM:266150
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Al Amyloidosis
Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine... ORPHA:85443
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus,... ORPHA:1333
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Renal tubular acidosis, Decreased activity of NADPH... ORPHA:431361
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Short statur... ORPHA:381
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice, Diarrhea, Hep... ORPHA:90062
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Diarrhea, Vomiting, Reduced peroxisomal glutaryl-CoA oxidase ... OMIM:231690
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hypoplasia of the musculature, Osteoporosis... ORPHA:231226
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Hyperlipidemia,... ORPHA:254346
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine... ORPHA:14
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hypera... OMIM:264350
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology... ORPHA:2849
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoa... OMIM:619534
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Feeding dif... ORPHA:116
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach... ORPHA:83469
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss ORPHA:52416
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomiting... OMIM:237300
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Anorexia, Decreased urinary potassium, Renal salt wasting, ... ORPHA:95409
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Inter... ORPHA:97280
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614576
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Agg... OMIM:619075
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, ... ORPHA:423
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Sengers Syndrome
Growth delay, Myopathy, 3-Methylglutaconic aciduria, Osteopenia OMIM:212350
Peroxisome Biogenesis Disorder 5B
Joint laxity, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:614867
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Li... ORPHA:97229
Autosomal Erythropoietic Protoporphyria
Abnormal circulating porphyrin concentration, Erythema, Decreased liver function, Cirrhosis, Chol... ORPHA:79278
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hyperammonemia, Feeding difficulties, Hyperalaninemia, Intrauterine growth retardation OMIM:619051
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Feeding difficulties in infancy, Obesity, Inappropriate ... ORPHA:411515
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Mild postnatal growth reta... ORPHA:456312
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature, Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipati... OMIM:248360
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive... ORPHA:178029
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, H... OMIM:617303
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
9Q31.1Q31.3 Microdeletion Syndrome
Short stature, Thick hair, Highly arched eyebrow, Overweight, Renovascular hypertension, Type II ... ORPHA:401923
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... OMIM:271900
Thyroid Hemiagenesis
Thyroid agenesis, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbil... ORPHA:95719
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Vomiting, High palate, Hepatic steatosis, Accessory spleen, Hep... OMIM:619418
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Premature gra... ORPHA:280365
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, B... ORPHA:2047
Hijazi-Reis Syndrome
Postnatal growth retardation, Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia, ... OMIM:301094
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy, 2-ethylhydracylic aciduria OMIM:610006
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Weight loss, Elevated carcinoembryonic antigen level, Adreno... ORPHA:100083
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Feeding difficulties... ORPHA:800
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, ... OMIM:175500
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Flexion contracture, Glucose intolerance, High palate, Sparse hair, Hyperglycemia, ... OMIM:608612
Giant Cell Arteritis
Renal insufficiency, Alopecia, Anorexia, Abdominal pain, Joint stiffness, Weight loss, Hematuria,... ORPHA:397
Lassa Fever
Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Oliguria, Dysphagia ORPHA:99824
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Synophrys, Hepatos... OMIM:606003
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Alopecia, Elevated circulating aspartate aminot... OMIM:615559
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, Ectodermal dysplasia, Hepatic fibrosis, Hypoca... OMIM:218330
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Inguinal hernia, Short stature, Diastasis recti, Portal hypertension, Flexio... ORPHA:440713
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hartnup Disease
Abnormal urinary color, Short stature, Malabsorption, Cutaneous photosensitivity, Glossitis, Neut... ORPHA:2116
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Elevated circulating C-r... ORPHA:54251
Beta-Thalassemia Major
Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, Hypoplasia of the musculature... ORPHA:231214
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... ORPHA:329918
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Feeding di... OMIM:616801
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility,... ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Hyperalaninemia, Facial hypotonia, Anh... OMIM:615273
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J... ORPHA:79124
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums, Poor suck, Thick eyebrow ORPHA:171829
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Abd... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties, Intrauterine growth r... OMIM:609060
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal absces... ORPHA:444490
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism,... OMIM:619471
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Feeding difficulties in ... ORPHA:1328
Parkinsonism-Dystonia 2, Infantile-Onset
Elevated urinary homovanillic acid, Hypomimic face OMIM:618049
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia OMIM:604484
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... OMIM:118450
Congenital Enterovirus Infection
Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure ORPHA:292
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, Feeding ... OMIM:156200
Microsporidiosis
Myositis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid gland,... ORPHA:2552
Alg3-Cdg
Abnormality of the gastrointestinal tract, Abnormal circulating enzyme concentration or activity,... ORPHA:79321
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... OMIM:145980
1P36 Deletion Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno... ORPHA:1606
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification OMIM:617993
Ethylmalonic Encephalopathy
Failure to thrive, Diarrhea, Ethylmalonic aciduria, Acrocyanosis, Petechiae ORPHA:51188
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Aggressive behavio... OMIM:252920
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Anorexia, Cachexia, Splenomegaly, Hepatosplenomegaly, Increase... ORPHA:824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Feeding difficulties, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic acidu... OMIM:617248
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Nasogastric tube feeding in in... ORPHA:739
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:2471
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Short stature, ... ORPHA:59
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia, Joint stiffness ORPHA:1144
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Osteopenia, Aggressive behavior, Feeding difficulties in... ORPHA:251028
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Weakness of facial musculature, Failure t... OMIM:618811
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Short stature, Facial palsy, Splenomegaly, Cranial ... OMIM:259720
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Type I diabetes mellitus, Intrauterine growt... ORPHA:290
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, Ectodermal dysplasia, High palate, Sparse hair, Joint laxity, Hepatomega... OMIM:613610
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90036
Dyskeratosis Congenita
White hair, Anorectal anomaly, Hyperhidrosis, Premature graying of hair, Sparse hair, Intrauterin... ORPHA:1775
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Mil... OMIM:224120
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Prolonged neonatal jaundice, Urinary incontinence, Bowel incontinence, Dysphagia OMIM:618868
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Nasogastric tube feeding in infancy, Ragged-red muscle fibers, Increased muscle lip... ORPHA:254864
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... ORPHA:232
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Joint stiffness, Abnor... ORPHA:702
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, An... ORPHA:732
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Pontocerebellar Hypoplasia, Type 13
Low posterior hairline, Feeding difficulties, Constipation, Decreased liver function, Long eyelas... OMIM:618606
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairli... OMIM:619488
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Splenomegaly, Elevated transferrin saturation, Increased ... ORPHA:766
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Leukodystrophy, Hypomyelinating, 4
Feeding difficulties in infancy, Flexion contracture, Ethylmalonic aciduria OMIM:612233
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, High palate, Abnormal repetitive mannerisms, Hyperactivity, Coll... ORPHA:96121
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis... ORPHA:466794
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hors... OMIM:607330
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Delayed epiphys... ORPHA:226313
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Reduced radioactive iodin... ORPHA:90673
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Angioedema, Erythema, ... ORPHA:139402
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:369840
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Increased bone mineral density, Cortical scl... OMIM:620366
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Splenic ... OMIM:603903
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyp... ORPHA:427
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressiv... ORPHA:85293
Cog2-Cdg
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... ORPHA:435934
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, Gastroesophageal reflux, High palate, Thoracic hypertrichosis, Hypothyroi... OMIM:618268
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Zttk Syndrome
Feeding difficulties in infancy, Flexion contracture, High palate, Bifid uvula, Absent gallbladde... OMIM:617140
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I... ORPHA:1454
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Joint hypermobility, Cranios... ORPHA:369837
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Lower limb muscle weakn... ORPHA:395
Congenital Disorder Of Glycosylation, Type Iiw
Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic steatosis, H... OMIM:619525
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidem... ORPHA:79477
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... OMIM:615398
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Aggressive behavior, Organic aciduria, Generalized amyotrophy, Dysphagia, Limb musc... OMIM:614707
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Lower limb muscle weakness, Feeding difficultie... ORPHA:746
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Flexion contracture, Feeding difficulties, Growth delay, 3-Methylglutaconic aciduria,... OMIM:616271
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormality of the uri... ORPHA:2204
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology ORPHA:85447
Trisomy 18P
Short stature, Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, High, narrow palate... ORPHA:1715
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Nasogastric tube feeding in infancy, Elbow flexion cont... ORPHA:371364
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Feeding difficulties, Fine hair, Spa... ORPHA:217346
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... ORPHA:779
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Aganglionic megacolon, Cachexia, Abnormal circulating creatine conc... ORPHA:52503
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Epiphyseal stippling, Increased circulating very l... OMIM:614859
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Nausea and vomiting, G... ORPHA:537
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Hypercalciuria... OMIM:219700
Congenital Erythropoietic Porphyria
Osteopenia, Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentrat... ORPHA:79277
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Abnormal urinary color, Jaundice ORPHA:90033
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit... ORPHA:261265
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pancreatic islet cell adenoma, Pituitary null... ORPHA:97289
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Vomi... ORPHA:90791
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Cebalid Syndrome
Highly arched eyebrow, Congenital diaphragmatic hernia, Feeding difficulties, High palate, Polyph... OMIM:618774
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja... OMIM:603553
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... OMIM:260370
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Sotos Syndrome
Joint laxity, Abnormality of the kidney, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Hig... OMIM:117550
Anemia, Congenital Dyserythropoietic, Type Iiia
Hemosiderinuria, Increased circulating lactate dehydrogenase concentration, Jaundice, Reduced hap... OMIM:105600
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Decreased testicu... OMIM:146110
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Ascites ORPHA:2123
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Diabetes ... ORPHA:811
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Synophrys, Tics, Vomiting, Compulsive behaviors, High palate, Micropenis, He... OMIM:619475
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... ORPHA:308552
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine... OMIM:252900
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Hematemesis, Splenomegaly, Increased circulating ferritin conce... OMIM:615846
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Short stature, Joint stiffness, Postnatal growt... OMIM:620210
Peroxisome Biogenesis Disorder 6B
Elevated circulating phytanic acid concentration, Distal amyotrophy, Decreased liver function, Pr... OMIM:614871
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, Glucose intolerance, High palate, Macrovesicular hepatic steatos... OMIM:619127
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... ORPHA:397941
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro... ORPHA:98907
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Adnp Syndrome
Urinary incontinence, Oral-pharyngeal dysphagia, Vomiting, Gastroesophageal reflux, Compulsive be... ORPHA:404448
Nephroblastoma
Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver, Nephroblastoma ORPHA:654
Neonatal Alloimmune Neutropenia
Jaundice, Maternal diabetes ORPHA:464370
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Facial diplegia, Gastroesop... OMIM:618186
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow... ORPHA:35710
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Aggressive behavior, Cryptorchidism, Jaundice, Flexion contracture... OMIM:608093
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria OMIM:617184
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Nausea and vomiting, G... ORPHA:36426
Congenital Disorder Of Glycosylation, Type Ip
Vomiting, Low anterior hairline, Hyperammonemia, Feeding difficulties OMIM:613661
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets ORPHA:681
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, D... OMIM:252930
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... ORPHA:100075
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Hyperalaninemia, Myopathy ORPHA:254881
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Fair hair, Aggressive behavior, Gastros... ORPHA:72
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... OMIM:615895
Enamel-Renal Syndrome
Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr... ORPHA:1031
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:95619
Hereditary Spherocytosis
Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Abdominal distention, Gout, Growth delay, H... ORPHA:822
Serotonin Syndrome
Restlessness, Diarrhea, Rhabdomyolysis, Agitation, Hepatic failure, Acute kidney injury, Nausea ORPHA:43116
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Feeding difficulties ... ORPHA:3208
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Short stature, Decreased response to growth hormone ... OMIM:602782
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Poor appetite, Bowel u... ORPHA:97287
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Postnatal growth retardation, Osteo... ORPHA:2169
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Telangiectasia of... ORPHA:774
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Nausea, Gas... ORPHA:100078
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, ... OMIM:614231
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Polyphagia, Enuresis ... OMIM:615873
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Growth delay, Horizo... ORPHA:96168
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Anorexia, Abdominal pain, ... ORPHA:77259
Johanson-Blizzard Syndrome
Fair hair, Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia,... OMIM:243800
Maternal Uniparental Disomy Of Chromosome X
Short stature, Camptodactyly of finger, Flexion contracture, Low posterior hairline, Hepatic failure ORPHA:261519
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair, Splenomegaly, Nephrocalcinosis, Growth delay, Aminoaciduria OMIM:616084
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Impulsivity, Aggressive behavior, Hypophosphaturia, A... ORPHA:73223
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, High... OMIM:620089
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Nausea and vomiting, Gastroi... ORPHA:440437
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Hypothyroidism, Abnormality of th... ORPHA:349
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... ORPHA:1876
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
X-Linked Acrogigantism
Increased body mass index, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level,... ORPHA:300373
Opsismodysplasia
Rhizomelia, Renal phosphate wasting, Disproportionate short-limb short stature, Protuberant abdom... OMIM:258480
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... OMIM:617056
Tyrosinemia, Type Ii
Hypertyrosinemia, Growth delay, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Tarp Syndrome
Meckel diverticulum, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, High palate, H... OMIM:311900
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Feeding difficult... OMIM:610505
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Feeding difficulties, 3-Methylglutaconic aciduria, Delayed puberty, Lower limb am... ORPHA:496790
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Overweight, Eleva... ORPHA:99832
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis, Cholecys... ORPHA:99827
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... ORPHA:769
Leptospirosis
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Cellular urinary casts, Jaundice, Di... ORPHA:509
Craniopharyngioma
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the ant... ORPHA:54595
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Diabetes insipidus, Feeding difficult... OMIM:225750
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Stiff neck, Elevated circulating C-reactive p... ORPHA:319213
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Tetrasomy 12P
Short stature, Cachexia, Sparse eyebrow, Abnormal soft palate morphology, Hypohidrosis, Joint hyp... ORPHA:884
Microscopic Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Cutis marm... ORPHA:727
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Elevated circulating creatine ... OMIM:615704
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Tryptophanuria With Dwarfism
Conjunctival telangiectasia, Cutaneous photosensitivity, Severe short stature, Tryptophanuria OMIM:276100
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev... ORPHA:57777
Sarcoidosis
Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly, Alopecia, Hyperthyr... ORPHA:797
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay OMIM:615631
Systemic Capillary Leak Syndrome
Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Weight loss, Pancreatitis, Abnormal rena... ORPHA:188
Autosomal Dominant Hypocalcemia
Alopecia, Abdominal pain, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph... ORPHA:428
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Telangiectasia of the skin, Malabsorption, Flexion cont... ORPHA:220393
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Methylmalonic aciduria, Intrauterine growth retardation OMIM:615578
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hypothyroidism ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Failure to thrive, Small for gestational age, Neonatal insulin-dependent di... ORPHA:2255
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... ORPHA:676
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Renal cyst, Self-i... ORPHA:488618
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... ORPHA:333
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterin... OMIM:618958
Williams-Beuren Syndrome
Osteopenia, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Nephrocalcinos... OMIM:194050
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Erythema, Hepatic failure, Hypertriglyceridemia OMIM:177000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Obesity, Advanced ossification of carpal bones, Polycystic ov... OMIM:616831
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss ORPHA:86893
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Dia... OMIM:614602
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Short stature, Elevated circulating crea... OMIM:619743
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Cutis marmorata, Abnormality of the kidney, Elevated c... ORPHA:767
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ... OMIM:613561
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co... OMIM:609069
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Cutis marmorata, Absence of renal corticomedullary differentiation, Renal hypoplasia, Feeding dif... OMIM:619758
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functiona... ORPHA:29073
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Hereditary Elliptocytosis
Abdominal pain, Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolong... ORPHA:288
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Nijmegen Breakage Syndrome
Abnormal hair quantity, Skeletal muscle atrophy, Anal stenosis, Short stature, Cachexia, Rhabdomy... ORPHA:647
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... OMIM:235400
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Camptodactyly of finger, Abdominal pain, Splenomegaly, Urticaria, Ne... ORPHA:575
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... ORPHA:791
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, Abdominal... ORPHA:49041
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Gastrostomy tube feeding in infancy, Elevated amniotic fluid alpha-fetoprotein, Pr... ORPHA:423479
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Limitation of joint mobility, Osteoporosis, Feeding difficulties... ORPHA:99742
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Nausea, Rhabdomyolysis, Hyperkalemia, Oliguri... ORPHA:466650
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function ORPHA:512260
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contractur... ORPHA:83617
Richards-Rundle Syndrome
Reduced bone mineral density, Distal amyotrophy, Ketonuria, Joint stiffness ORPHA:1399
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, High palate, Renal hypoplasia OMIM:619053
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Hirsutism, Low posterior hairline, Macrog... OMIM:269921
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... ORPHA:544482
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Vomiting, Macrovesicular hepat... OMIM:300855
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Failure to thrive, Intrahepatic cholestasis, Horseshoe kidney,... ORPHA:46059
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, Distal amyotrophy, Lacticaciduria, Dysphagia OMIM:618247
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Splen... OMIM:607616
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... ORPHA:1666
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Purpura, Cardiomegaly, Splenomegaly, Hepatic failure, Hepato... OMIM:608013
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Isovaleric Acidemia
Vomiting, Hyperglycinuria OMIM:243500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Small for... OMIM:301056
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Splenomegaly, Oligosacchariduria, Macroglossia, High palate, Camptodactyly, Hypertr... OMIM:616354
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhe... ORPHA:173
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:276621
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Jaundice, Insulin-dependent but ketosis-res... ORPHA:103918
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Enla... ORPHA:91
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:616689
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... OMIM:204690
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Neoplasm of the adrenal cortex, Hypoglycemia, Shor... ORPHA:109
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Primary amenorrhea, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypog... OMIM:616033
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coarse hair, Gastroesophageal reflux, Femoral hernia, Scarring, ... ORPHA:198
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Int... OMIM:620305
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid con... ORPHA:77293
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Adrenal insufficiency, Decreased liver function, Ureterocele OMIM:614863
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Hep... OMIM:607015
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Alkaptonuria
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... ORPHA:56
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss ORPHA:90060
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Feeding difficulties, Left ventricular noncompaction, Ne... OMIM:619167
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... OMIM:613986
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contrac... ORPHA:90321
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Menkes Disease
Feeding difficulties in infancy, Hernia, Sparse hair, Intrauterine growth retardation, Osteoporos... ORPHA:565
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, My... ORPHA:183
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponatremia, Hypoparathyr... ORPHA:199299
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala... ORPHA:3463
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Abdominal pain, Malabsorption, Splen... ORPHA:100025
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Inguinal hernia, Intestinal pseudo-obstruction... OMIM:309900
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly... ORPHA:904
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Enlarged kidney OMIM:615285
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Feeding difficulties, Myopathy, Ethylmalonic aciduria, Weakness of facial mu... OMIM:201470
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Feeding difficulties, Growth delay, Decreased serum creatinine, Intrauterine growt... OMIM:617744
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Short stature, Feeding difficulties, Growth delay, Epiphyseal stippling, Gastroesop... ORPHA:251009
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Splenomegal... OMIM:613471
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... ORPHA:141152
Rift Valley Fever
Elevated hepatic transaminase, Anorexia, Hematemesis, Jaundice, Hepatitis, Hematuria, Melena ORPHA:319251
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hyp... OMIM:270400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Transcobalamin Ii Deficiency
Hepatomegaly, Diarrhea, Methylmalonic aciduria, Vomiting, Failure to thrive OMIM:275350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... ORPHA:1018
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Melena, Increased serum iron, Increased total iron ... ORPHA:98870
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Ascites, Abnormal glucose homeostasis ORPHA:391673
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice OMIM:185000
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Premature adrenarc... ORPHA:90795
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Lower limb muscle... ORPHA:79102
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Gastritis, Facial palsy, Nausea, Hyperkalemia, Renal tubular epith... ORPHA:31826
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Elevated alkaline phosphatase of bone origin, Abd... ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... OMIM:619064
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Vomiting OMIM:245050
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, A... ORPHA:3380
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver ORPHA:205
Rauch-Steindl Syndrome
Hepatomegaly, Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal... OMIM:619695
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Short stature, Telangiectasia o... ORPHA:910
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Pheochromocytoma, Elevated cir... ORPHA:1332
Acute Monoblastic/Monocytic Leukemia
Increased circulating lactate dehydrogenase concentration, Oliguria, Anorexia, Weight loss ORPHA:514
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Episodic abdominal pain, Lact... OMIM:238600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Episodic vomiting, D-2-hydroxyglutaric aciduria OMIM:600721
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abno... OMIM:216360
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... ORPHA:48435
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Chronic diarrhea, Cirrhosis, Hep... OMIM:615207
Cole Disease
Hyperglycemia OMIM:615522
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia OMIM:182900
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Organic aciduria, Long eyelashes, High ... OMIM:620191
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature, Cryptorc... ORPHA:163979
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Weight loss, Arth... ORPHA:42642
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co... OMIM:208920
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Diarrh... ORPHA:79076
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus OMIM:615812
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contracture, Gastr... OMIM:210710
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria, Vomiting, Hyperalaninemia, Failure to thrive OMIM:618250
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... OMIM:608885
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Weakness of ... ORPHA:247691
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Feeding difficulties, Pr... ORPHA:2609
Distal Xq28 Microduplication Syndrome
Short stature, Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, High pa... ORPHA:293939
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99226
Turner Syndrome
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:881
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Constipation, Gastroesophageal reflux, Bruxism,... OMIM:312750
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hy... OMIM:619321
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:29072
Barth Syndrome
Failure to thrive, Growth delay, Skeletal myopathy, 3-Methylglutaconic aciduria, Fair hair OMIM:302060
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Feeding diffic... OMIM:613839
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Glutaric aciduria, Chronic kidney disease,... ORPHA:25
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Kawasaki Disease
Nausea and vomiting, Abnormality of nail color, Proteinuria, Abdominal pain, Jaundice, Diarrhea, ... ORPHA:2331
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Neonatal hyperbilirubinemia, Abdominal... ORPHA:3202
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Weight... OMIM:181000
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Hepatomegaly, Splenomegaly, Diarrhea ORPHA:56425
Acquired Purpura Fulminans
Acrocyanosis, Hepatic failure, Elevated circulating C-reactive protein concentration, Macular pur... ORPHA:49566
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,... ORPHA:398124
Spherocytosis, Type 4
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:612653
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Short stature, Abdominal pain, Postnatal growth retardat... OMIM:212750
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly OMIM:607685
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... ORPHA:365
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Short stature, Cryptorchidism, Obesity, High palate, Spa... OMIM:619185
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu... ORPHA:556955
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79332
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Erythema, Weight loss, Cuta... ORPHA:317
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... OMIM:179800
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Rh Deficiency Syndrome
Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Increased circulating lactate dehydrogenase con... ORPHA:71275
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P... ORPHA:363618
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Abdominal pa... ORPHA:36412
Immunodeficiency 27A
Anorexia, Splenomegaly, Diarrhea, Weight loss, Hepatosplenomegaly, Salmonella osteomyelitis, Hypo... OMIM:209950
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre... ORPHA:96180
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Thickened cortex of long bones, Microglossia, Growth d... OMIM:253250
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency, Short stature, Insulin-resistant diabetes mellitus, Osteoporos... OMIM:226980
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... ORPHA:677
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Premature adrenarche, Hyponat... ORPHA:90794
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... OMIM:619431
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... ORPHA:100086
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Multicys... ORPHA:2092
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Extremely elevated creatine kinase, J... OMIM:615673
Spherocytosis, Type 2
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:616649
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,... OMIM:618541
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Cachexia, Nasogastric tube feeding in infa... ORPHA:206436
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Failure ... ORPHA:39041
Listeriosis
Liver abscess, Stiff neck, Osteomyelitis, Abdominal pain, Jaundice, Peritonitis, Diarrhea, Rhabdo... ORPHA:533
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Diarrhea, Failure to thrive OMIM:618495
Mucopolysaccharidosis, Type Iiid
Synophrys, Coarse hair, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Short stature... OMIM:252940
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... ORPHA:273
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
X-Linked Agammaglobulinemia
Alopecia, Osteomyelitis, Short stature, Malabsorption, Chronic diarrhea, Hepatitis, Weight loss, ... ORPHA:47
Chronic Hiccup
Weight loss, Abnormality of the diaphragm, Malnutrition, Abnormal eating behavior ORPHA:396
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Epiphyseal stippling, Increased circul... OMIM:614862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:615356
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Thick eyebrow, Severe short stature, Short stature, Diastasis recti, Joint stiffnes... OMIM:253220
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Neuhauser Syndrome
Osteopenia, Short stature, Low anterior hairline, High palate, Primary hypothyroidism, Dysphagia,... OMIM:249310
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Short stature, Cleft palate, Aminoaciduria, Organic aciduria, Galactosuria, Limi... ORPHA:85276
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... OMIM:232300
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Limitation of joint mobility, Ost... ORPHA:47612
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Postnatal growth retardation,... ORPHA:73230
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypopigmentation of hair, Hypertriglyceridemia, Sple... ORPHA:167
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... ORPHA:171876
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Feeding difficulties, Gastroesophageal reflux, Constipation, Attention defi... OMIM:619934
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis OMIM:601539
Familial Atrial Myxoma
Jaundice, Ascites, Cholestasis, Cardiomegaly ORPHA:615
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Short stature, Malabsorption, Chronic diarrhea, High palate, Prolonge... OMIM:233600
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:266510
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Short stature, Splenomegaly, Micro... OMIM:301072
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Hypogonadism, Elevated hepatic iron concentration OMIM:615234
Thyroid Hypoplasia
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Hypothyr... ORPHA:95720
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly OMIM:133180
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,... OMIM:210900
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Anorexia, Splenomegaly, Hepatitis, He... ORPHA:781
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Elevated circulating creatine kinase con... ORPHA:329178
Hyper-Igd Syndrome
Abdominal pain, Splenomegaly, Diarrhea, Chronic diarrhea, Hepatosplenomegaly, Arthritis, Vomiting... OMIM:260920
Classic Hodgkin Lymphoma
Hepatomegaly, Poor appetite, Anorexia, Splenomegaly, Osteolysis, Weight loss, Hyperhidrosis ORPHA:391
Acute Bilirubin Encephalopathy
Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyper... ORPHA:529799
Chronic Bilirubin Encephalopathy
Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyper... ORPHA:529808
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Small for gestational age, Shor... OMIM:260400
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Portal vein hypoplasia OMIM:619433
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Urinary incontine... ORPHA:263487
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Rhizomelia, Diarrhea, Weight loss, Joint hyperflexibility, Sev... ORPHA:1842
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... OMIM:249100
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ... ORPHA:565612
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Weaver Syndrome
Inguinal hernia, Diastasis recti, Cryptorchidism, Limited elbow extension, Limited knee extension... OMIM:277590
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hypospadias, Aggressive behavior, Cryptorchidism, Abnormal hair whorl, Syn... ORPHA:163956
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Hypoglycemia OMIM:229700
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Large f... OMIM:300868
Triploidy
Omphalocele, Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Abnormality ... ORPHA:3376
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Low cholesterol esterification rate,... OMIM:257220
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... OMIM:601775
Fucosidosis
Hepatomegaly, Anhidrosis, Short stature, Angiokeratoma, Petechiae, Cardiomegaly, Splenomegaly, Fl... OMIM:230000
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... ORPHA:26790
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration... OMIM:619423
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Cellulitis, Ascites ORPHA:90308
Multiple Sulfatase Deficiency
Hepatomegaly, Short stature, Joint stiffness, Splenomegaly, Coarse hair, Mucopolysacchariduria, T... ORPHA:585
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Low cholesterol esterification rate, Splenomegaly, Jaundice, Dysphag... OMIM:607625
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Short stature, Abn... ORPHA:666
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibros... ORPHA:84064
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Arthritis OMIM:617321
Acute Promyelocytic Leukemia
Anorexia, Abdominal pain, Weight loss, Hematuria, Addictive alcohol use, Ecchymosis, Bruising sus... ORPHA:520
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Malabsorption, Joint stiffness, Splenomega... ORPHA:93
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Feeding difficulties in infanc... ORPHA:355
Kanzaki Disease
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... OMIM:609242
Tuberculosis
Weight loss ORPHA:3389
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, ... ORPHA:231625
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Joint stiffness, Heparan sulfate excretion in urine... OMIM:607014
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior... OMIM:620330
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Prematurely aged appea... ORPHA:1318
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... ORPHA:100082
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... ORPHA:100080
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Congenital Factor Xiii Deficiency
Poor wound healing, Bruising susceptibility, Spontaneous hematomas, Inflammation of the large int... ORPHA:331
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... OMIM:619503
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Celiac disease, Splenomegaly, Thyroiditis OMIM:619375
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Short stature, Hypothyroidism, Joint hyperflexibility, High palate, Hypercholesterole... ORPHA:2479
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Feeding difficulties in infancy, Sparse eyebrow, Hydrocele testis, Hy... OMIM:618810
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Sple... OMIM:259700
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, Hepatosplen... ORPHA:168577
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Splenomegaly, Jaundice, Myopathy, Cholecystitis, Prolonged neonatal jaun... OMIM:615512
Sitosterolemia 1
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Abdominal... OMIM:210250
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity, Urinary incontinence... OMIM:268800
Erdheim-Chester Disease
Nausea and vomiting, Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria,... ORPHA:35687
Scheie Syndrome
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Mucopolysacchariduria ORPHA:93474
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Alopecia, Diarrhea, Oliguria, Abnormal blood ion concentration... ORPHA:31824
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly OMIM:618852
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Diabetes mellitus, Proteinuria, Abnormal renal medulla... ORPHA:439232
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Lipoatro... ORPHA:51
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality o... ORPHA:52
Igg4-Related Aortitis
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, We... ORPHA:449400
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hepatom... OMIM:252500
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Feeding difficulties in infancy, Synophrys, Gastroesophageal reflux, High palate,... OMIM:607872
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Neonatal hypoglycemia, Card... OMIM:130650
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Alopecia, Gastritis, Joint stiffness, Spleno... ORPHA:809
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Failure to thrive, Diarrhea ORPHA:276
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, ... OMIM:618278
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Evans Syndrome
Jaundice, Bruising susceptibility, Petechiae ORPHA:1959
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Facial palsy, Elevated circ... ORPHA:772
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicou... ORPHA:3455
Immunodeficiency 31C
Osteopenia, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Short stature, Villous atro... OMIM:614162
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, ... ORPHA:99889
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... OMIM:618500
Granulomatosis With Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Gastroi... ORPHA:900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Hepatic failure, Abnormal dental enamel morphology ORPHA:3196
Brucellosis
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Knee osteoarthrit... ORPHA:1304
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Telangiectasia of the skin, Malabsorption, Cryptorchidism, Ery... ORPHA:99812
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Short stature, Diarrhea, Angiokeratoma corpor... OMIM:208400
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Alopecia, Urinary incontinence, Aggressive behavior, Abnormali... ORPHA:3385
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Cyanosis, Abnormal circulating calcium concentration, Weig... ORPHA:60025
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Poor wound healing, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosp... ORPHA:2072
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... ORPHA:48918
Cimdag Syndrome
Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis, Hepatomegaly OMIM:619273
3-Methylglutaconic Aciduria, Type Viia
3-Methylglutaconic aciduria OMIM:619835
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Protruding tongue, Generalized hypertri... ORPHA:93399
Gm1 Gangliosidosis
Inguinal hernia, Coarse metaphyseal trabecularization, Short stature, Camptodactyly of finger, Jo... ORPHA:354
Mucopolysaccharidosis, Type Ivb
Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Joint stiffness, Disproportionate sh... OMIM:253010
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Nail dystrophy, Palmoplantar hyperhidrosis, Hypercholesterolem... OMIM:610644
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Pineal cyst, Feedin... OMIM:618885
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, I... ORPHA:96263
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Aganglionic megacolon, Malabsorption, Sp... ORPHA:175
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Gastroesophageal reflux, Microgastria... ORPHA:2538
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short stature, Cleft hard palate, Synophrys, Submucous cleft hard palate, Hypercalciuria, Nephroc... OMIM:300990
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Gastrointes... ORPHA:67
Tetrasomy 9P
Myositis, Biliary atresia, Inappropriate behavior, High palate, Micropenis, Bifid uvula, Amelogen... ORPHA:3310
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... OMIM:228000
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Short stature, Portal hypertension, Hypersplenism, Sp... OMIM:613385
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Cutis marmorata, Portal hyper... OMIM:615688
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Cutaneous photosensitivity ORPHA:3217
Liposarcoma
Nausea and vomiting, Abdominal pain, Abnormality of the kidney, Weight loss ORPHA:69078
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... OMIM:133540
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Elevated circ... ORPHA:2785
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Mucopolysaccharidosis, Type Iva
Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Disproportionate short-trunk short s... OMIM:253000
Lynch Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Gastrointestinal hemorr... ORPHA:144
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... ORPHA:388
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis ORPHA:848
Fatal Familial Insomnia
Constipation, Weight loss, Urinary retention, Dysphagia OMIM:600072
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Nausea, Alopecia, ... ORPHA:99921
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly ORPHA:66661
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Generali... ORPHA:581
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Inguinal hernia, Small for gestational age, Highly arched eyebrow, Phimosis, Craniosy... ORPHA:363611
Dend Syndrome
Hyperglycemia ORPHA:79134
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Perianal erythema, Poor appetite, Splenomegaly, Diarrhea, Low alkali... OMIM:201100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Malabsorption, Hypothyroidism, Diarrhea, Gr... OMIM:226300
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Renal cyst, Generalized hirsutism, Abnormal dental... ORPHA:744
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Feeding difficulties, Osteopetrosis, Failure to thrive OMIM:615085
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Prematurely aged a... ORPHA:808
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic di... ORPHA:90362
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, High palate, Nephron... OMIM:266920
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Sparse eyebrow, Hypothyroidism... OMIM:620186
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, H... OMIM:605309
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism OMIM:618107
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Severe short stature, Joint stiffness, Splenomegaly, Angiokeratoma... OMIM:230500
Sotos Syndrome
Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Hypoth... ORPHA:821
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Silver-gray hair, Bruising suscep... OMIM:214500
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, High palate... OMIM:619004
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Hypoplasia o... OMIM:200995
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thr... ORPHA:79128
D-Lactic Aciduria With Gout
Inguinal hernia, Lacticaciduria OMIM:245450
Fryns-Smeets-Thiry Syndrome
Joint hyperflexibility, Short stature, Cachexia ORPHA:2058
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Failure to thrive ORPHA:99931
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Abdominal distention, Jaundice, Growth delay, Ma... ORPHA:95712
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... OMIM:216400
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Aggressive behavior, Low cholesterol esterification rate, Splenomega... ORPHA:646
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Short stature OMIM:272200
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Hurler Syndrome
Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Chronic diarrhea, Limitation ... ORPHA:93473
Imerslund-Gräsbeck Syndrome
Proteinuria, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis ORPHA:35858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Urticaria, Nephrotic syndrome, Nephritis... OMIM:603909
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Sti... OMIM:615415
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Splenomegaly, Erythema, Low anterior hairline, Reduced bone min... ORPHA:742
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen... OMIM:617591
Huntington Disease-Like 2
Weight loss ORPHA:98934
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... ORPHA:829
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin,... ORPHA:679
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Renal Nutcracker Syndrome
Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria... ORPHA:71273
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Cutis marmorata, Anorexia, Malabs... ORPHA:33226
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Diarrhea, Weight loss, Abno... ORPHA:33276
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis, Increased su... ORPHA:77261
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Poor appetite, Elevated circulating C-reactive protein concentration, Craniofacial... ORPHA:324964
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... OMIM:256040
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Growth delay, Vomiting, Polydipsia ORPHA:30925
C Syndrome
Omphalocele, Hepatomegaly, Fused sternal ossification centers, Short stature, Cryptorchidism, Ren... OMIM:211750
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, A... ORPHA:909
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Anorexia, Short hard palate ORPHA:1969
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Abnormal renal corticomedullary differentiation, Asc... OMIM:617397
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-rea... OMIM:612852
Fanconi Anemia
Reduced bone mineral density, Abnormality of the liver, High palate, Abnormality of the hypothala... ORPHA:84
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Elevated circulating alpha-fetoprotein concentration,... ORPHA:420741
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Retrograde e... ORPHA:230
Letterer-Siwe Disease
Abdominal distention, Jaundice, Hepatosplenomegaly OMIM:246400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac... OMIM:619351
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Facial palsy, Recurrent fractures, Splenomegaly, Gr... OMIM:611490
Hereditary Late-Onset Parkinson Disease
Impulsivity, Spastic/hyperactive bladder, Weight loss, Chronic constipation, Agitation, Dysphagia... ORPHA:411602
Isaacs Syndrome
Hyperhidrosis, Calf muscle hypertrophy, Weight loss ORPHA:84142
Familial Tumoral Calcinosis
Hepatomegaly, Calcification of muscles, Splenomegaly, Erythema, Hyperhidrosis, Nephrocalcinosis, ... ORPHA:53715
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Short Syndrome
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Poor appetite, L... ORPHA:3163
Osteosarcoma
Abnormal lactate dehydrogenase level, Osteolysis, Weight loss, Elevated circulating alkaline phos... ORPHA:668
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Alopecia, Telangiectasia of the skin, Elevated... ORPHA:93672
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesicourete... ORPHA:444077
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Cachexia, Limited elb... ORPHA:558
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Inguinal hernia, Prominent superficial veins, P... OMIM:612541
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... ORPHA:2388
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Splenomegaly, Weight loss, Bruising susceptibility ORPHA:3226
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Erythema, Weight loss, Panniculitis ORPHA:33577
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Abnormal dental ename... ORPHA:79430
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid c... ORPHA:142
Fish-Eye Disease
Splenomegaly, Hepatomegaly ORPHA:79292
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss... ORPHA:251071
Dengue Fever
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Bruisin... ORPHA:99828
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:95232
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Ovarian n... ORPHA:2221
Behçet Disease
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Myositis, ... ORPHA:117
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Thyroiditis, G... OMIM:617388
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Short stature, Cachexia, Urticaria, Cutaneous photosensitivity ORPHA:220295
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis,... ORPHA:99776
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Chronic diarrhea, Chronic constipation, Long... OMIM:619005
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyr... ORPHA:227982
Goodpasture Syndrome
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Increas... OMIM:233450
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... ORPHA:90324
Reticular Dysgenesis
Malabsorption, Diarrhea, Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Spherocytosis, Type 5
Splenomegaly, Jaundice OMIM:612690
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Short stature, Gastric ulcer, Delayed puberty OMIM:208060
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D... ORPHA:343
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Enamel hypoplasia, Gastroesophageal reflux, High palate, Intrauterine grow... OMIM:300896
Cryptogenic Organizing Pneumonia
Cyanosis, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss ORPHA:1302
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Short stature, Reduced leukocyte arylsulfatase B activity, Joint s... OMIM:253200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Arthritis, Cellulitis, Muscular edema, Acrocyanosis ORPHA:3165
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter OMIM:188580
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis, Xanthelasma OMIM:603776
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Feeding diff... ORPHA:828
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Gastroparesis, Intestinal pseudo-obstruction, Centrall... OMIM:607459
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Zygomycosis
Fasciitis, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Abdominal pa... ORPHA:73263
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, A... ORPHA:391665
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Small for gestational age, Scarring, Short stat... ORPHA:99843
Hajdu-Cheney Syndrome
Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull ossification, ... ORPHA:955
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... ORPHA:99867
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites ORPHA:168811
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Peptic ulcer, Abdominal pain, Splenomegaly, Diarrhea, Osteoporosis, Weight loss, Ur... ORPHA:98849
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Portal hypertension, Abdominal pain, Po... ORPHA:729
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, High palate, Homocystinuria, Bifid uvula OMIM:601552
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... OMIM:277460
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Malnutrition, Myocardial calcification, Hypoa... ORPHA:75565
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Telangiectases of the cheeks, Short stature, Limi... ORPHA:576
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... ORPHA:85414
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Takayasu Arteritis
Anorexia, Hyperhidrosis, Weight loss, Arthritis, Gastrointestinal infarctions ORPHA:3287
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Joint stiffness, Weight loss, Digital flex... OMIM:180300
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Alg9-Cdg
Villous atrophy, Vomiting, Gastroesophageal reflux, Abnormal bone ossification, Bifid uvula, Hepa... ORPHA:79328
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly OMIM:620296
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypogonadotropic hyp... ORPHA:90695
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Splenome... OMIM:269860
Elliptocytosis 1
Splenomegaly, Jaundice OMIM:611804
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Alopecia, Short stature, Poor appetite, Anorexia, Malabso... ORPHA:37
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Generalized abnormality of skin, Elevated circulating ... ORPHA:2902
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Pyomyositis
Myositis, Renal insufficiency, Weight loss ORPHA:764
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, He... ORPHA:3261
Shwachman-Diamond Syndrome 2
Hepatomegaly, Short stature, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Failure... OMIM:617941
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ... ORPHA:373
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice ORPHA:3203
Huntington Disease-Like 2
Weight loss OMIM:606438
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiti... ORPHA:91347
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Diarrhea, Hypoplasia of the thymus, Failure to thrive, Hypo... OMIM:603554
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,... ORPHA:309031
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Abnormality of the gastrointestinal tract,... ORPHA:50918
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Erythema, Gen... OMIM:619183
Aceruloplasminemia
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... ORPHA:48818
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Feeding difficulties in infancy, High ... OMIM:135900
Bullous Pemphigoid
Urticaria, Erythema, Diabetes mellitus, Weight loss ORPHA:703
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Intraalveolar phospholipid accumulation, We... ORPHA:747
Reactive Arthritis
Recurrent urinary tract infections, Osteomyelitis, Abdominal pain, Joint stiffness, Diarrhea, Wei... ORPHA:29207
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial palsy, Weight los... OMIM:164310
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick eyebrow, Hyperextensibility of the finger joints, Thick hair, Highly arched e... OMIM:135500
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Weight loss, Attention deficit hyperactivity disorder, Dys... ORPHA:216866
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli... ORPHA:85408
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate,... ORPHA:137675
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Decreased calvarial ossification, Arthrogryposis multiplex congenita, M... OMIM:620076
Elliptocytosis 3
Intermittent jaundice OMIM:617948
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hepatosplenomegaly ORPHA:86884
Wolfram Syndrome 2
Neurogenic bladder, Diabetes mellitus, Gastric ulcer OMIM:604928
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Block vertebrae, Cardiomegaly, Asplenia, Pos... OMIM:306955
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Periana... OMIM:301074
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse ... ORPHA:424
Fg Syndrome Type 1
Cryptorchidism, Abnormal social behavior, Hypospadias, Small pituitary gland ORPHA:93932
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperacti... ORPHA:649
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight los... ORPHA:79078
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Poor appetite, Hypoplasia of the musculature, Ank... ORPHA:2020
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Urinary incontinence, Cholecystitis ORPHA:309256
Oromandibular Dystonia
Torticollis, Weight loss, Dysphagia, Bruxism ORPHA:93958
Autosomal Dominant Epidermolytic Ichthyosis
Cutaneous photosensitivity, Poor appetite, Weight loss ORPHA:312
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Urinary incontinence, Cholecystitis ORPHA:309263
Rat-Bite Fever
Abdominal aseptic abscess, Diarrhea, Oligoarthritis, Tendonitis, Weight loss, Arthritis, Vomiting... ORPHA:31205
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal... ORPHA:96191
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... ORPHA:99819
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short stature, Unilateral renal agenesis, Nasogastric tube feeding i... ORPHA:99646
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Cyanosis, Elevated circulating C-reactive protein concentratio... ORPHA:97214
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Pemphigus Vulgaris
Feeding difficulties in infancy, Urticaria, Atypical scarring of skin, Weight loss ORPHA:704
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, High palate, G... ORPHA:740
Pmm2-Cdg
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating g... ORPHA:79318
Myoclonic Epilepsy Of Lafora
Cutaneous photosensitivity, Hepatic failure OMIM:254780
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Perry Syndrome
Weight loss ORPHA:178509
Thymic Carcinoma
Neoplasm of the thymus, Hyperhidrosis, Weight loss ORPHA:99868
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Decreased response to growth h... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Decreased response to growth h... ORPHA:363958
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Childhood Absence Epilepsy
Abnormal social behavior, Urinary incontinence ORPHA:64280
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Anhidrosis, Anhidrotic ectodermal dysplasia, Splenomegaly, Chron... OMIM:612132
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Weight loss ORPHA:723
Chronic Beryllium Disease
Weight loss ORPHA:133
Lafora Disease
Hepatic failure, Severe photosensitivity, Nasogastric tube feeding ORPHA:501
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Nocardiosis
Liver abscess, Osteomyelitis, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abnormality of the... ORPHA:31204
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Dermatomyositis
Abnormal hair quantity, Telangiectasia of the skin, Feeding difficulties in infancy, Gastrointest... ORPHA:221
Gerstmann-Straussler Disease
Weight loss, Lower limb muscle weakness, Aggressive behavior OMIM:137440
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se... OMIM:618372
Familial Thrombocytosis
Hyperhidrosis, Splenomegaly, Weight loss ORPHA:71493
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Foot acroosteolysis, Periosteal t... OMIM:161700
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Abnormal social behavior ORPHA:1675
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Mend Syndrome
Cryptorchidism, Abnormal social behavior ORPHA:401973
Renal Cell Carcinoma, Nonpapillary
Renal cell carcinoma OMIM:144700
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Abnormality of the thyroid gland, Weight loss, Hyperhidrosis... ORPHA:52417
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647

Histopathology

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

There is no histopathology data for Hnf1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hnf1a.

No publications found that use IMPC mice or data for Hnf1a.

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