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Gene: Cys1 MGI:2177632

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cystin 1

Synonyms:

2900006B19Rik, ck

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 Cys1 mutations

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

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

Human diseases associated with Cys1 (0 diseases)
Human diseases predicted to be associated with Cys1 (1372 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cys1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts	OMIM:600666
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane...	OMIM:615285
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom...	ORPHA:2924
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hype...	OMIM:232220
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ...	ORPHA:446
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous...	OMIM:618999
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy, Anemia	ORPHA:28
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Nausea, Abdominal pain, Abnormal erythrocyte enzyme level, Abnormal circulating por...	ORPHA:100924
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper...	OMIM:208500
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Polysyndactyly With Cardiac Malformation	Renal cyst, Stillbirth, Hepatic cysts	OMIM:263630
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B...	OMIM:267010
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed...	OMIM:222748
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Meckel Syndrome, Type 6	Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B...	OMIM:612284
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ...	OMIM:606777
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Abnormal pyramidal sign, Feeding difficulties, Abnormality of extrapyramida...	OMIM:618224
Hereditary Coproporphyria	Hyponatremia, Dark urine, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp...	ORPHA:79273
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Clonus, Protein avoidance, Poor coordination, Abnormal pyramidal sign, Spastic gait...	OMIM:238970
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem...	ORPHA:369
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the he...	ORPHA:84081
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Polycystic kidney dysplasia, Increased circulating...	OMIM:614859
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Chr...	ORPHA:85445
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Anorexia, Mala...	OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Elevated circulating crea...	OMIM:614723
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Abnormal urinary color, Autoimmune hemolytic anemia, Diarrhea, Hemoglobinuri...	ORPHA:90035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Hyperammo...	ORPHA:289916
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Blue Diaper Syndrome	Hypercalcemia, Diarrhea, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Lethargy, M...	OMIM:143880
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Cold Agglutinin Disease	Nausea and vomiting, Abnormal urinary color, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea	ORPHA:56425
Meckel Syndrome, Type 8	Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Developmental And Epileptic Encephalopathy 92	Ataxia, Feeding difficulties, Myoclonus, Dystonia, Lethargy, Spasticity	OMIM:617829
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency	Dystonia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Hypertonia, Eth...	ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat...	OMIM:617872
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D...	OMIM:611590
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Decreased liver function, Neonatal death	OMIM:614870
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, T...	ORPHA:79312
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ...	OMIM:605899
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Hyperbiliverdinemia	Elevated circulating biliverdin concentration, Decreased liver function, Green urine	OMIM:614156
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia	OMIM:301015
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch...	ORPHA:2394
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Feeding difficulties, Choreoathetosis, Myoclonus, Lethargy, Spasticity	OMIM:617065
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip...	ORPHA:1318
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Retinitis Pigmentosa 89	Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile...	OMIM:618955
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Babinski sign, Feeding difficulti...	ORPHA:314911
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Feeding difficulties, Aminoaciduria, Myoclonus, Tru...	OMIM:250620
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency, Lethargy	ORPHA:254857
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Adiposis Dolorosa	Abdominal distention, Constipation, Depression	OMIM:103200
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal urinary color, Hepatomegaly, Abdominal pain	ORPHA:234
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:656
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria...	ORPHA:79276
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Meckel Syndrome, Type 5	Cleft palate, Bile duct proliferation, Renal cyst	OMIM:611561
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, He...	OMIM:602579
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia...	ORPHA:309169
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Citrullinemia Type I	Torticollis, Ataxia, Slurred speech, Hyperammonemia, Feeding difficulties, Ankle clonus, Gastroes...	ORPHA:247525
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Fee...	OMIM:613135
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Agitation, Diffuse pancreatic islet hy...	ORPHA:276556
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Agitation, Diffuse pancreatic islet hy...	ORPHA:276575
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysph...	OMIM:233910
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Central Diabetes Insipidus	Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Depression, Lethargy, Nocturia	ORPHA:178029
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hype...	ORPHA:27
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Pheochromoc...	OMIM:193300
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Poor suck	OMIM:615026
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen, Nephroblastoma, Enlarged kidney	OMIM:618272
Early Myoclonic Encephalopathy	Feeding difficulties, Myoclonus, Dysphagia, Lethargy, Poor suck	ORPHA:1935
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Feeding difficulties in infancy, Opisthotonus, Vomiting, Elevate...	OMIM:210200
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Urinary urgency, Bradykinesia, Dystonia	OMIM:605909
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala...	OMIM:608836
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Micropenis, Hepat...	OMIM:263520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria, Hypertonia, Tetraplegia	OMIM:274270
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting, Ataxia	ORPHA:622
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Hyperurico...	ORPHA:79233
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow...	ORPHA:35710
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise...	OMIM:619858
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
N-Acetylglutamate Synthase Deficiency	Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia	OMIM:237310
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Decreased liver function, D...	OMIM:246900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno...	OMIM:610688
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur...	ORPHA:401901
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi...	ORPHA:564
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan...	OMIM:616263
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia...	ORPHA:3124
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Ataxia, Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, ...	OMIM:237300
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst...	ORPHA:79303
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Adams-Oliver Syndrome 6	Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Ataxia, Poor appetite, Reye syndrome-like episodes, Hyperglut...	ORPHA:927
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge...	OMIM:620085
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Hem...	ORPHA:93552
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Meckel Syndrome, Type 2	Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst	OMIM:603194
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Agitation, Diffuse pancreatic islet hyperplasia, Polyphagia, Lethargy, Increased C-...	ORPHA:276580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulatin...	OMIM:235400
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat...	OMIM:274150
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu...	OMIM:300635
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Cerebral palsy, Hyperglycinuria, Hyperammonemia, Feeding difficu...	OMIM:210210
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ...	OMIM:232200
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulminant hepatitis, Incre...	OMIM:215600
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Hyperglycinuria, Lactica...	OMIM:605711
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Mpdu1-Cdg	Renal cortical cysts, Elevated circulating creatine kinase concentration, Decreased response to g...	ORPHA:79323
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, T...	OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Leth...	OMIM:619064
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney...	ORPHA:469
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dys...	ORPHA:216873
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu...	OMIM:614922
Cystathioninuria	Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis	ORPHA:212
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,...	ORPHA:447
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir...	ORPHA:42
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj...	OMIM:617093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Citrullinemia, Classic	Hepatomegaly, Ataxia, Protein avoidance, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into...	OMIM:215700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Nasogastric tube feeding in infancy, Chorea, Feeding difficulties, Hemiballismus, Frequen...	ORPHA:494526
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Poor appetite, Feeding dif...	OMIM:606054
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A...	OMIM:300048
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria	OMIM:606824
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:26791
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati...	OMIM:607483
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutam...	OMIM:311250
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Ataxia, Anorexia, Hyperammonemia, Organic aciduria, Lethargy	ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Ataxia, Vomiting, Myoclonus, Lethargy, Spasticity	OMIM:618225
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Decreased serum creatinine...	ORPHA:54057
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Renal insuf...	OMIM:276700
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Abnormality of the pancreas, Splenomegaly, Jaundice, ...	OMIM:222470
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Lethargy, Dysphagia	OMIM:613561
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, D...	OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera...	OMIM:618120
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Lethargy, Thrombocytopenia	OMIM:243500
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Displaceme...	ORPHA:2377
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Incre...	ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Feeding difficulties, Abnormal renal corticomedull...	OMIM:616733
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Mpi-Cdg	Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:79319
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Meckel Syndrome, Type 4	Cleft palate, Bile duct proliferation, Renal cyst	OMIM:611134
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Tetraplegia, 3-Methyl...	ORPHA:254913
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Trisomy X	Tremor, Depression, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Le...	ORPHA:156
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Holocarboxylase Synthetase Deficiency	Feeding difficulties in infancy, Hyperammonemia, Organic aciduria, Vomiting, Hypertonia, Elevated...	OMIM:253270
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Paralysis	OMIM:613710
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst	OMIM:615982
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reac...	ORPHA:49041
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Agitation, Pancreatic islet-cell hyperplasia	ORPHA:276608
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Feeding d...	OMIM:614857
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia	OMIM:128235
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys...	OMIM:613662
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus,...	ORPHA:521406
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal...	ORPHA:85450
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Dysphagia	OMIM:615945
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Methylmalonic Acidemia With Homocystinuria	Lethargy, Feeding difficulties	ORPHA:26
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Lethargy	OMIM:616483
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Abdominal pain, Tremor, Splenomegaly, Diarrhea...	ORPHA:99745
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Central Neurocytoma	Nausea and vomiting, Ataxia, Babinski sign, Depression, Lethargy	ORPHA:73256
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala...	OMIM:312170
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Dec...	ORPHA:541423
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Classic Galactosemia	Speech apraxia, Hepatomegaly, Incoordination, Ataxia, Postural tremor, Diarrhea, Feeding difficul...	ORPHA:79239
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concen...	OMIM:223900
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Feeding difficulties, Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Poor appetite, Abdominal d...	OMIM:227810
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Hartnup Disease	Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria	ORPHA:2116
Cyclic Vomiting Syndrome	Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea	OMIM:500007
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Developmental And Epileptic Encephalopathy 41	Babinski sign, Feeding difficulties, Nephrocalcinosis, Tetraparesis, Lethargy, Spasticity	OMIM:617105
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Acholic stools, Cholestatic liver disease, Cir...	ORPHA:65682
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent u...	OMIM:619487
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Joubert Syndrome 18	Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia	OMIM:614815
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Speech apraxia, Hepatomegaly, Clonus, Protein avoidance, Oroticaciduria, Poor coordination, Abnor...	ORPHA:415
Liver Failure, Infantile, Transient	Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Feedi...	OMIM:613070
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Protruding tongue, Cryptorchidism, Hi...	OMIM:214100
C Syndrome	Hepatomegaly, High palate, Renal cortical cysts, Cryptorchidism	OMIM:211750
Mosaic Trisomy 1	Hepatic agenesis, Renal cortical cysts, Renal cyst, Cleft palate, Micropenis, Penile hypospadias	ORPHA:1692
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ...	OMIM:619377
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ...	ORPHA:314632
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Lethargy	OMIM:617900
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab...	ORPHA:103910
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch...	ORPHA:805
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Urocanic Aciduria	Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata...	ORPHA:210128
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Abdominal distention, Hypercalciuria, Gene...	ORPHA:2088
Familial Hypoaldosteronism	Hyponatremia, Nausea and vomiting, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyp...	ORPHA:427
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia, Ketonuria, Glycosuria	ORPHA:2089
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva...	ORPHA:79284
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Constipation, Parkinsonism with favorable res...	OMIM:616710
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Elevated circulating creatinine c...	OMIM:608104
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Constipation, Vomiting, Enterocolitis	OMIM:142623
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Bifid uvula	OMIM:619480
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, ...	ORPHA:71517
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Feeding difficulties, Upper limb spasticity, Gast...	OMIM:611523
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di...	OMIM:608643
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Dystonia, Ataxia, Babinski sign, Vomiting, Dysphagia, Lethargy, Episodic vomiting	OMIM:618226
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Nasogastric tube feeding in infancy, Gast...	ORPHA:391417
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Glutathionuria	Urinary incontinence, Tremor, Dysdiadochokinesis, Constipation, Glutathionuria, Action tremor	OMIM:231950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Microvillus Inclusion Disease	Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology	ORPHA:2290
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Dep...	OMIM:616795
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract...	ORPHA:79301
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Protuberant abdomen, Cystic renal dyspla...	OMIM:608022
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom...	OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, Hepatic fibrosis, High pala...	OMIM:614091
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Abdominal distention, Splenomegaly, Ma...	ORPHA:75233
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Abdominal pain, Abdominal distention, Chronic ...	ORPHA:330015
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy	OMIM:613002
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor	OMIM:606438
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Feeding difficulties, Br...	OMIM:261640
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarci...	ORPHA:171
Urocanase Deficiency	Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy, Dystonia, Parkinsoni...	ORPHA:240085
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am...	OMIM:277900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbumine...	OMIM:618329
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Elevated circ...	OMIM:214110
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal pyramidal sign, Choreoa...	ORPHA:765
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis	OMIM:602361
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increa...	OMIM:154230
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Biotinidase Deficiency	Hepatomegaly, Ataxia, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Hyperammonemia, Or...	OMIM:253260
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphol...	ORPHA:2849
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy...	ORPHA:240103
Visceral Myopathy 1	Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Throm...	OMIM:277380
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Glossoptosis, Renal cyst	ORPHA:2031
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Hypoplasia of ...	ORPHA:79328
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ataxia, Abnormal pyramidal sign, Vomiting, Left ventricular hypertrophy, Lethargy	OMIM:618228
Hereditary Central Diabetes Insipidus	Lethargy, Diarrhea, Vomiting	ORPHA:30925
Juvenile Nephropathic Cystinosis	Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh...	ORPHA:411634
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cort...	ORPHA:397715
Idiopathic Congenital Hypothyroidism	Macroglossia, Neonatal hyperbilirubinemia, Lethargy, Prolonged neonatal jaundice	ORPHA:95717
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Castleman Disease	Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Elevated circulating C-reactive...	ORPHA:160
Folinic Acid-Responsive Seizures	Ataxia, Spastic tetraparesis, Abdominal distention, Chorea, Hypertonia, Dystonia	ORPHA:79097
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Feeding difficulties, Limb dystonia, Intermittent diarrhea	OMIM:620270
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa...	ORPHA:2750
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Celiac disease, Jaundice, Hepatic failure, Bi...	ORPHA:186
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnor...	ORPHA:436252
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia,...	ORPHA:230
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Joubert Syndrome 20	Renal cyst	OMIM:614970
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Cleft palate, Hydronephrosis, High palate, Hypoplastic nipples, R...	ORPHA:480880
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In...	ORPHA:465508
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Leukocytosis, Dilatation...	OMIM:274000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Enterocolitis, Hepatocellular ad...	ORPHA:79259
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct...	OMIM:615362
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Lethargy, Neonatal death	OMIM:610498
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,...	OMIM:243910
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Abdominal distention, Chorea, Babinski sign, Depression...	ORPHA:309271
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, He...	ORPHA:91138
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis...	OMIM:620366
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged polycystic ov...	ORPHA:2869
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Dicarboxylic aciduria, I...	ORPHA:71212
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Nasogastric tube feeding in infancy, ...	ORPHA:90117
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:617341
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi...	ORPHA:99657
Fanconi Anemia, Complementation Group O	Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia	ORPHA:49827
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Donohue Syndrome	Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia	OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Abdominal ...	OMIM:229600
Dystonia-Aphonia Syndrome	Generalized dystonia, Abnormal urinary odor, Myoclonus, Dysphagia, Oromandibular dystonia	ORPHA:412217
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Vomiting, Hyperglycinemia, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:614299
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Scrub Typhus	Nausea and vomiting, Renal insufficiency, Abdominal pain, Tremor, Splenomegaly, Lethargy	ORPHA:83317
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin...	ORPHA:298
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Leukope...	ORPHA:99828
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Susac Syndrome	Nausea and vomiting, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction	ORPHA:838
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Depression, Prolonged neon...	ORPHA:99832
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,...	ORPHA:51890
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, High palate, ...	OMIM:261515
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Relapsing Fever	Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Elevated circula...	ORPHA:91547
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Tongue fasciculations...	ORPHA:276435
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin...	OMIM:613280
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy, Goiter	OMIM:274400
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Babinski sign, Gait ...	ORPHA:309256
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Hypercalcemia, Parathormone-independent increased renal tubula...	OMIM:600740
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Re...	ORPHA:18
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Gastroparesis, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Rigidity...	OMIM:618877
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Meckel Syndrome, Type 10	Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Cleft palate, Micropenis, Bifi...	OMIM:614175
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,...	ORPHA:552
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Nausea and vomiting, Urinary bladder inflammation, Abdominal distention, Hydr...	ORPHA:79403
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten...	ORPHA:2241
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Abdomi...	ORPHA:822
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas...	OMIM:606003
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, High palate, Hypomagn...	OMIM:223360
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Hematuria, M...	ORPHA:538
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Familial Thyroid Dyshormonogenesis	Macroglossia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin level, Ne...	ORPHA:95716
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal distention, Hyp...	OMIM:618528
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Abdominal distention, Babinski sign, Clumsiness, Progressive gait ataxia, D...	ORPHA:309263
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Neo...	OMIM:601186
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Gastro...	ORPHA:90051
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Decreased serum zinc, Lethargy	OMIM:201100
Cholera	Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl...	ORPHA:173
Insulinoma	Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Pituitary prolactin cell ...	ORPHA:97279
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia,...	ORPHA:254881
Mednik Syndrome	Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain ...	OMIM:609313
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Feeding difficulties, Nephrocalcinosis,...	ORPHA:445038
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Hyperlipidemia...	ORPHA:1830
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Compulsive...	ORPHA:488618
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy...	ORPHA:314588
Cap Polyposis	Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Anorexia, Jaundice, L...	ORPHA:20
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem...	OMIM:232800
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, D...	OMIM:619738
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho...	ORPHA:2470
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Benign Samaritan Congenital Myopathy	Lethargy, Fasciculations	ORPHA:324581
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Urinary urgency, Bradykines...	OMIM:168600
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, ...	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Diminished motivation, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Bab...	OMIM:615157
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Proteinuria, Renal cyst, Steatorrhe...	OMIM:212065
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Bloody...	ORPHA:84064
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentra...	ORPHA:247691
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Meckel Syndrome 14	Abdominal distention, Protuberant abdomen, Polycystic kidney dysplasia	OMIM:619879
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Necrotizing Enterocolitis	Hyponatremia, Abdominal distention, Diarrhea, Leukocytosis, Bloody diarrhea, Vomiting, Neutropeni...	ORPHA:391673
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ...	ORPHA:2237
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne...	ORPHA:505248
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Meningococcal Meningitis	Renal insufficiency, Projectile vomiting, Elevated circulating C-reactive protein concentration, ...	ORPHA:33475
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdom...	ORPHA:275761
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete...	ORPHA:2970
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, Ab...	OMIM:615838
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tracheoesophageal...	ORPHA:1834
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Hypercalcemia, Testicular neoplasm, P...	ORPHA:99880
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-...	ORPHA:64753
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Abnormal renal corticomedullary differentiation, Let...	OMIM:617397
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Lower limb spasticity, Ataxia, Feeding difficulties in infancy, Hyperhomocysti...	ORPHA:395
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Lethargy	OMIM:229700
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Joubert Syndrome 1	Hyperactivity, Protruding tongue, Aggressive behavior, Renal cyst, Macroglossia, Hepatic fibrosis...	OMIM:213300
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, High palate, Lethargy	OMIM:604377
Car T Cell Therapy-Associated Cytokine Release Syndrome	Poor appetite, Diarrhea, Elevated circulating creatinine concentration, Decreased urine output, V...	ORPHA:542323
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Elevated circulating creatine kinase concentration, Attention deficit hyperactiv...	ORPHA:565899
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Hepatosple...	ORPHA:168569
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno...	ORPHA:440713
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Feeding difficulties, Gastroesophageal reflux, Polycystic kidney dyspl...	OMIM:606232
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abdominal pain, Abdominal distention, Ileus, Anemia	ORPHA:83469
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Red urine, Elevated circulating uroporphyrin concen...	OMIM:263700
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Dystonia	ORPHA:306669
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ...	ORPHA:829
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Abnormal pyramidal sign, Feeding difficulties, Ethylmalonic aciduria, Lethargy	OMIM:201470
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Hypercalcemia, Testicular neoplasm, P...	ORPHA:143
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Feeding difficulties	OMIM:618232
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Lower limb spasticity, Proteinuria, Ataxia, Tremor, Diarrhea, ...	ORPHA:90321
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Secretory diarrhea, Abdominal distention, Renal duplication	OMIM:270420
Dominant Beta-Thalassemia	Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepa...	ORPHA:231226
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hepatomeg...	ORPHA:116
Qazi-Markouizos Syndrome	Chronic constipation, Torticollis, Abdominal distention	ORPHA:3010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Diarrhea, Chorea, Spastic tetraplegia, Gait ataxia, Vomiting, Myocl...	OMIM:618321
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Abnormal pyramidal sign, Feeding difficulties, Bradykinesia, Ankle clonus, Hype...	OMIM:617435
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Spasticity, Elevated circulating C-reactive protein concentration, Hepatome...	OMIM:619423
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Feeding difficulties, Ovarian cyst, Gastroesophageal reflux, Splenic c...	OMIM:618188
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, Red urine, Red-brow...	ORPHA:95159
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, Renal cyst	OMIM:605231
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition...	ORPHA:95427
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Macroglossia, Prolonged neonatal jaundice, Lethargy, T...	ORPHA:226316
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Depression, Macroglossia, Lethargy, Attention defic...	ORPHA:90674
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Spinocerebellar Ataxia 2	Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, ...	OMIM:183090
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Leukopenia, Vomitin...	ORPHA:319218
Niemann-Pick Disease, Type A	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Rigidity, Athetosis, Constipation, V...	OMIM:257200
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Vomit...	ORPHA:90003
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Pancreatic Colipase Deficiency	Cholelithiasis, Fat malabsorption, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase c...	ORPHA:254892
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Elevate...	ORPHA:90038
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Bowel incontinence, Parkinsonism, Oculogyric crisis, Rigidi...	ORPHA:306674
Evans Syndrome	Lethargy, Jaundice	ORPHA:1959
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Spasticity	OMIM:603896
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic stea...	ORPHA:746
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Abdominal distention, Splenomegaly, Hypocalcemia, Micropenis, Hepatic failure, Hypo...	OMIM:235255
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Rigidity, Splenomegaly, Tremor, Feeding difficulties, Dystonia	OMIM:615010
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ...	OMIM:618060
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Abdominal distention, Gastrointest...	ORPHA:2131
Tetanus	Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary norepine...	ORPHA:3299
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene...	OMIM:617666
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abdominal distention, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, ...	ORPHA:1655
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal...	OMIM:613658
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice...	ORPHA:231214
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Esophageal stricture, Hepatic fibrosis, Oral leukoplakia	OMIM:613989
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Tongue fasciculations, Dys...	OMIM:159950
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Urinary incontinence, Bowel incontinence, Parkinsonism, Action t...	OMIM:300623
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia,...	ORPHA:227510
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Feeding diffic...	OMIM:619911
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus	OMIM:614018
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Malformation...	OMIM:249000
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst, Feeding difficulties	OMIM:615583
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Hypercalcemia, Anorexia, Celiac disease, Pituitary adenoma, Adr...	ORPHA:199299
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid hypopl...	OMIM:612541
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia...	OMIM:266200
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Bronchiectasis, Hepati...	ORPHA:1163
Vacterl/Vater Association	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Perry Syndrome	Parkinsonism, Tremor, Depression, Apathy, Abnormality of extrapyramidal motor function	ORPHA:178509
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg...	OMIM:312080
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Gastrointestinal dysmotility, Ataxia, Dysphagia	OMIM:618637
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro...	OMIM:308230
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,...	ORPHA:225147
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:242900
Combined Oxidative Phosphorylation Deficiency 32	Dystonia, Tremor, Horseshoe kidney, Feeding difficulties, Choreoathetosis, Constipation, Gastroes...	OMIM:617664
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Hypocholesterolemia	ORPHA:71
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Cholelithiasis...	ORPHA:83617
Neuronal Intranuclear Inclusion Disease	Ataxia, Urinary incontinence, Tremor, Rigidity, Episodic vomiting	OMIM:603472
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat...	ORPHA:454836
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Restlessness, Elevated circulating alpha-fetoprotein...	OMIM:615273
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Macroglossia, Prolonged neonatal j...	ORPHA:90673
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Bardet-Biedl Syndrome 1	Decreased testicular size, Aganglionic megacolon, Abnormality of the kidney, High, narrow palate,...	OMIM:209900
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Abdominal pain, Abdominal distention, Diarrhea, Depression, Iron deficiency an...	OMIM:212750
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne...	OMIM:254900
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,...	ORPHA:79263
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo...	ORPHA:79282
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis	ORPHA:329284
Griscelli Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Hepatitis	ORPHA:381
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Encephalitis Lethargica	Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Lethargy	ORPHA:83600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr...	OMIM:240300
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr...	ORPHA:282166
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Proximal tubulopathy, Vomit...	ORPHA:2609
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Hyperlysinemia	Tremor, Dysmetria, Cystinuria, Opisthotonus, Vomiting, Gastroesophageal reflux, Clumsiness, Hypoo...	ORPHA:2203
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Ataxia,...	OMIM:607426
Meacham Syndrome	Accessory spleen, Horseshoe kidney, Stillbirth, Neonatal death, Enlarged kidney	OMIM:608978
Sneddon Syndrome	Tremor, Nephropathy, Chorea, Hemiparesis	ORPHA:820
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Depre...	OMIM:128100
Familial Visceral Myopathy	Vesicoureteral reflux, Abdominal distention, Hydroureter, Megacystis	ORPHA:2604
Adult-Onset Distal Myopathy Due To Vcp Mutation	Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Depression, Fasciculations, Frequ...	ORPHA:329478
Leprechaunism	Hepatomegaly, Enlarged ovaries, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosi...	ORPHA:508
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alph...	ORPHA:370348
Lichen Planopilaris	Hepatitis	ORPHA:525
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni...	ORPHA:37042
Classic Phenylketonuria	Nausea and vomiting, Tremor, Paraplegia, Depression, Hypertonia, Hyperphenylalaninemia, Hemiplegia	ORPHA:79254
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Feeding difficulties in infancy, Chorea, Hemiparesis, Chronic const...	OMIM:618829
Diamond-Blackfan Anemia	Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Thrombocytosis, Eryth...	ORPHA:124
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Polyembryoma	Abdominal distention, Elevated circulating alpha-fetoprotein concentration, Abdominal pain	ORPHA:180229
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Renal hypop...	OMIM:620005
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni...	ORPHA:183675
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Feeding difficulties, Hypocalcemia, Lethargy, Micropenis, Poor suck	OMIM:607143
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Gastrointestinal ob...	OMIM:176450
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Nephropathy	ORPHA:1192
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L...	OMIM:124000
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:677
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, H...	OMIM:306955
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria	ORPHA:1334
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Bipolar affective disorder, Hypospadias, Bowel incontinence, Feeding...	ORPHA:567
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlarged ...	OMIM:612651
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra...	ORPHA:562
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H...	ORPHA:228426
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal...	ORPHA:333
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir...	OMIM:214700
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Multicystic kidney dysplasia, Fetal megacystis, Constipation	ORPHA:73246
Multifocal Atrial Tachycardia	Cryptorchidism, Lethargy	ORPHA:3282
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Abdominal distention, Chronic diarrhea, Hemiparesis, Gastroesophageal reflux, Vomit...	OMIM:620233
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Thrombocytopenia, Diarrhea, Dysphagia, Feeding difficult...	OMIM:300855
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i...	OMIM:203800
Biotinidase Deficiency	Ataxia, Hyperammonemia, Organic aciduria, Spastic paraparesis, Lethargy	ORPHA:79241
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Feeding difficulties, Constipation...	OMIM:618885
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca...	ORPHA:90041
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Elevated circulati...	ORPHA:97278
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s...	ORPHA:363400
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Xerostomia...	ORPHA:449432
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Renal hypoplasia, Lobula...	OMIM:269860
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Ataxia, Tremor, Hyperbilirubinemia, Myoglobinuria	ORPHA:713
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Aggressive behavior,...	ORPHA:261494
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Glycerol Kinase Deficiency	Hypertriglyceridemia, Increased urinary glycerol, Hyperglycerolemia, Chronic pancreatitis, Crypto...	OMIM:307030
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Sim1-Related Prader-Willi-Like Syndrome	Cryptorchidism, Xerostomia, Small pituitary gland, Abnormal temper tantrums, Skin-picking, Lethar...	ORPHA:398079
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Atelosteogenesis Type I	Malrotation of colon, Multiple renal cysts, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Intellectual Developmental Disorder, X-Linked 12	Tremor, Depression, Feeding difficulties, Hyperkinetic movements, Microphallus, Spasticity	OMIM:300957
Dyskeratosis Congenita, Autosomal Recessive 1	Esophageal stricture, Hepatic fibrosis, Oral leukoplakia	OMIM:224230
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hormone stimulati...	OMIM:615873
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Ataxia, Feeding difficulties in infanc...	OMIM:252010
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Rigidity, Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co...	OMIM:615673
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis	ORPHA:292
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Decreased liver func...	OMIM:614867
Pancreatic Agenesis 1	Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici...	OMIM:260370
Mercury Poisoning	Anorexia, Tremor, Episodic abdominal pain, Hypokalemia, Dystonia, Acute kidney injury, Episodic v...	ORPHA:330021
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Myasthenia Gravis	Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis	ORPHA:589
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Abdominal pain, Hematemesis, Diarrhea, Chronic kidney di...	ORPHA:340
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Bipolar affective disorder, Parkinsonism, Anorexia, Tremor	ORPHA:3077
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Abn...	ORPHA:91139
Tempi Syndrome	Polycythemia, Increased hematocrit, Abnormality of the kidney	ORPHA:284227
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Sialuria	Splenomegaly, Hepatomegaly, Protuberant abdomen, Increased level of N-acetylneuraminic acid in urine	OMIM:269921
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Urinary urgency, Bradykinesia, Myoc...	OMIM:168601
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Proteinuria, Chronic...	ORPHA:1855
Medulloblastoma	Nausea and vomiting, Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxi...	ORPHA:616
Behr Syndrome	Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Progressive spast...	OMIM:210000
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis	OMIM:613385
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Leuko...	ORPHA:99826
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Gait ataxia, Limb ataxia, Depression, Truncal ataxia	ORPHA:98764
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Jaundice,...	ORPHA:912
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Cryptorchidism, Xerostomia, Small pituitary gland, Compulsive behaviors, Abnormal te...	ORPHA:398069
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom...	ORPHA:653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Ataxia, Babinski sign, Hypercalciuria, Renal cyst, Nephrocalcinos...	OMIM:615398
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly...	OMIM:616586
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Ddost-Cdg	Tremor, Oromotor apraxia, Constipation, Gastroesophageal reflux, Nephrotic range proteinuria	ORPHA:300536
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
East Syndrome	Ataxia, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating...	ORPHA:199343
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Abdominal distention, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hypere...	OMIM:619351
Sialuria	Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Attention d...	ORPHA:3166
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Hyperbilirubinemia, Elevated circulatin...	OMIM:614886
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Feeding difficulties	OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocy...	ORPHA:652
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Myoclonus, Tr...	OMIM:137440
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Yellow Fever	Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Distal Deletion 12Q	Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret...	ORPHA:96149
Myotonic Dystrophy 1	Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Neutropenia, Renal hypoplasia, Renal cyst, Feeding difficulties, Dysphagia,...	OMIM:618460
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Hypocalcemic seiz...	OMIM:264700
Hereditary Chronic Pancreatitis	Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote...	ORPHA:676
Alagille Syndrome 1	Elevated hepatic transaminase, Duplicated collecting system, Hypertriglyceridemia, Hepatocellular...	OMIM:118450
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Hepatitis	ORPHA:584
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Esophageal varix, Cirrhosis, Portal hypertension	ORPHA:974
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Rigidity, Diarrhea, Depression, Bradykinesia, Constipation, Apathy, Dyston...	ORPHA:2828
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Elevated circulati...	ORPHA:97261
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia...	OMIM:105210
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Feeding difficulties, Renal cyst, Horseshoe kidney	ORPHA:166035
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Vo...	ORPHA:466650
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hyp...	OMIM:270400
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Gaucher Disease, Type Ii	Hepatomegaly, Rigidity, Splenomegaly, Feeding difficulties, Hypertonia, Gastroesophageal reflux, ...	OMIM:230900
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Multiple bladder diverticula, Hyd...	OMIM:613177
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased ...	OMIM:188400
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Le...	ORPHA:36238
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla...	ORPHA:2538
Trisomy 13	Cryptorchidism, High, narrow palate, Abnormality of the ureter, Cleft palate, Multiple renal cyst...	ORPHA:3378
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio...	OMIM:146510
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Pyloric stenosis, Compulsive behaviors, Atten...	ORPHA:1001
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Hepatopulmon...	OMIM:618280
Roberts Syndrome	Thrombocytopenia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prol...	ORPHA:83471
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Freq...	ORPHA:845
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Ogden Syndrome	High, narrow palate, Lethargy, Cryptorchidism	ORPHA:276432
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Micropenis...	OMIM:243800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Feeding difficulties, Stillbirth, Gastroesophageal reflux, Polycyst...	OMIM:210710
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia	OMIM:168605
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Infectious enc...	ORPHA:319251
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Feeding difficulties, Choreoathetosis, Gastroesopha...	ORPHA:261197
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Vomiting, Lethargy	ORPHA:137675
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias	ORPHA:2115
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Urethral atresia, Hydronephrosis	OMIM:271520
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:881
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Jaundice, Hepatitis, Cheilitis, Sterile pyuria...	ORPHA:2331
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Acu...	OMIM:208900
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Bradykine...	ORPHA:240071
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure...	ORPHA:1896
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting	ORPHA:92050
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chro...	ORPHA:25
Glycine Encephalopathy	Lethargy, Poor suck, Hyperglycinemia	ORPHA:407
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Kasabach-Merritt Syndrome	Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Leukopenia, Microangiopa...	ORPHA:2330
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Hepatoblastoma, Hepatomegaly, Exaggerated median tongue furrow, Hypospadias, Cryptorc...	OMIM:312870
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia	OMIM:615989
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Protuberant abdomen	ORPHA:457485
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Feeding difficulties, Renal cyst, Horseshoe kidney	OMIM:250410
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp...	ORPHA:485405
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Functional abnormality of the bladder, Hepatitis, B...	ORPHA:391487
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Anorexia, Tr...	ORPHA:3008
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Renal insufficiency, Pustule, Myocarditis, Periton...	ORPHA:73263
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Trisomy 1Q	Multicystic kidney dysplasia, Cryptorchidism, Cleft palate, Congenital megaureter, Hydronephrosis...	ORPHA:261344
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Gastroesophageal reflux, Polycystic ...	OMIM:134780
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Wiskott-Aldrich Syndrome	Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop...	ORPHA:906
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Hematuria, Cirrhosis, Biliary t...	ORPHA:77259
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Hypocalcemic seiz...	ORPHA:289157
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Abdominal pain, Anorexia, Elevated circula...	ORPHA:91500
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in infancy, Renal...	OMIM:257300
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Horseshoe kidney, Cleft pa...	ORPHA:99776
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Gastric ulcer, Hep...	ORPHA:2072
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:602557
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis	OMIM:300894
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdomin...	ORPHA:97214
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric steno...	OMIM:122470
Hurler Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:607014
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hypercalciuria, Renal c...	ORPHA:369837
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal...	ORPHA:288
Complete Atrioventricular Septal Defect	Hepatomegaly, Right ventricular hypertrophy, Lethargy, Cardiomegaly	ORPHA:1329
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bipolar affective di...	ORPHA:77293
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Abdominal pain, Feeding difficulties in infancy, Abdominal distention...	ORPHA:3260
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Furrowed tongue, High palate, C...	OMIM:300534
Neuroleptic Malignant Syndrome	Hyponatremia, Acute kidney injury, Extrapyramidal muscular rigidity, Proteinuria, Elevated circul...	ORPHA:94093
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, H...	OMIM:229850
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at...	OMIM:115470
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:614251
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Methylmalonic aciduria, Dysmetria	OMIM:615578
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ...	OMIM:613179
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Ataxia, Reye syndrome-like episodes, Diarrhea, Abdominal dis...	OMIM:256810
Trichinellosis	Babinski sign, Hemiparesis, Apathy, Dysphagia, Hemiplegia, Lethargy, Nausea	ORPHA:863
Platyspondylic Dysplasia, Torrance Type	Abdominal distention	ORPHA:85166
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:253220
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Biliary tract abnormality	ORPHA:3191
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Di...	ORPHA:95455
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Esophageal atresia,...	OMIM:227646
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp...	OMIM:191100
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Microphallus, C...	OMIM:618454
Shwachman-Diamond Syndrome 2	Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, He...	ORPHA:3261
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchid...	ORPHA:464306
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Spastic dysarthria, Blepharospasm, Oculo...	ORPHA:240094
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis,...	ORPHA:100086
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Reduced C-peptide level, Hypoamylasemia, High palate, Pancreatic aplasia	ORPHA:556955
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Attention deficit hyperact...	OMIM:616975
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy...	OMIM:614381
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis	OMIM:308240
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
8P Inverted Duplication/Deletion Syndrome	Impulsivity, High, narrow palate, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypo...	ORPHA:96092
Joubert Syndrome 14	Renal cyst	OMIM:614424
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst, Feeding difficulties	OMIM:617260
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Feeding difficulties, Opisthotonus, Choreoathetosis, 3-Methylglutaconic...	OMIM:616271
Progressive Supranuclear Palsy	Dystonia, Rigidity, Tremor, Depression, Bradykinesia, Blepharospasm, Dysphagia	ORPHA:683
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor...	ORPHA:2059
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Intrarenal abscess, Vomiting, Lethargy, Nausea	ORPHA:68
Serotonin Syndrome	Clonus, Tremor, Rigidity, Diarrhea, Hypertonia, Myoclonus, Hepatic failure, Acute kidney injury, ...	ORPHA:43116
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Feeding difficulties in inf...	OMIM:234200
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi...	ORPHA:464311
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Cryptorchidism, Ab...	ORPHA:1606
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Hydronephrosis, Feeding difficulties	ORPHA:85201
Lymphatic Malformation 7	Abdominal distention, Anemia	OMIM:617300
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, High palate, Atten...	ORPHA:261349
Colonic Atresia	Abdominal distention	ORPHA:1198
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Esophag...	ORPHA:93271
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea	OMIM:602481
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Ataxia, Tremor, Dysphagia, Hydronephrosis	OMIM:222300
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Portal hypertension, Esophageal varix, Nephrolithiasis, Hematuria, Cholecys...	ORPHA:774
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti...	ORPHA:289390
Alobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93924
Semilobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:220386
Opsismodysplasia	Renal phosphate wasting, Protuberant abdomen, Hypophosphatemia	OMIM:258480
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Jacobsen Syndrome	Multicystic kidney dysplasia, Bipolar affective disorder, Intestinal malrotation, Cryptorchidism,...	ORPHA:2308
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Nausea and vomiting, Elevated hemoglobin A1c, Tremor, Babinski sign, Feeding difficulties, Renal ...	OMIM:616539
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Mucopolysaccharidosis Type 3	Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Heparan sulfate excretion in urine, Splen...	ORPHA:581
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Opti...	ORPHA:509
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Hepatosplenomegaly	ORPHA:93352
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Aminoacidur...	ORPHA:534
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis	ORPHA:309031
Multiple System Atrophy 1, Susceptibility To	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra...	OMIM:146500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Gastroparesis, Ataxia, Tremor, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperala...	OMIM:614052
Treacher-Collins Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus,...	ORPHA:861
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy...	OMIM:615530
Thanatophoric Dysplasia, Type I	Neonatal death, Protuberant abdomen	OMIM:187600
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i...	ORPHA:101085
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue...	OMIM:616300
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:615356
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Hyperechogen...	OMIM:605039
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Anal atresia	ORPHA:3301
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Schinzel-Giedion Syndrome	Streak ovary, Aganglionic megacolon, Nephroblastoma, Hypospadias, Abnormality of the ureter, Neph...	ORPHA:798
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Biliary atresia	OMIM:615272
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Feeding difficu...	OMIM:618056
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Schneckenbecken Dysplasia	Stillbirth, Protuberant abdomen	OMIM:269250
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Feeding d...	OMIM:610505
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis	OMIM:619479
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Achondrogenesis, Type Ii	Stillbirth, Protuberant abdomen	OMIM:200610
Pentalogy Of Cantrell	Absent gallbladder, Renal agenesis, Hypospadias, Cleft palate, Polysplenia, Renal dysplasia	ORPHA:1335
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Fasciculations, Hydronephrosis, Limb hypertonia	OMIM:620327
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Protuberant abdomen	OMIM:151210
Intrahepatic Cholestasis Of Pregnancy	Abdominal pain, Tremor, Depression, Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Aggressive behavior, High, narrow palate, Cleft palate, Furrowed tongue, Male urethr...	ORPHA:464738
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur...	ORPHA:447753
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Elevated circulating creatine kinase concentration	OMIM:618775
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Micropenis, Nephroca...	ORPHA:264450
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pa...	ORPHA:90068
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie...	OMIM:619381
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ureteral duplication, Hypoplasia of penis, Hypospadia...	ORPHA:373
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Increased serum bile ...	OMIM:618268
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis	OMIM:213700
Bone Marrow Failure Syndrome 3	Hyperactivity, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic...	OMIM:617052
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Gaucher Disease	Hepatomegaly, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, Hematuria, Cir...	ORPHA:355
X-Linked Acrogigantism	Abdominal distention, Ataxia	ORPHA:300373
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni...	ORPHA:818
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,...	ORPHA:79102
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abdominal pain, Ho...	ORPHA:2092
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia	OMIM:268300
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Occipital Horn Syndrome	Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph...	ORPHA:198
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Aplasia/Hypopl...	ORPHA:2255
Fibrochondrogenesis 1	Stillbirth, Protuberant abdomen	OMIM:228520
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Annular pancreas, Ankyloglossia, Cleft palate	ORPHA:488642
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ...	OMIM:607330
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Monosomy 22	Micropenis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Ade...	ORPHA:733
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hyperactivity, Cryptorch...	ORPHA:3310
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hypocalcemia, Hydronephrosis	OMIM:300712
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Cleft palate, Urinary retention, Cholelithiasis, Annular pancreas	ORPHA:97297
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, M...	OMIM:619321
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Aggressive behavior, Cleft palate, Hepatosplenomegaly, Cholecystitis, Cholelithiasi...	OMIM:301066
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed...	OMIM:117650
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Myocardit...	ORPHA:319213
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Feeding difficulties	ORPHA:1393
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia, Bifid uvula, Median cleft lip and palate	OMIM:184705
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Aggressive behavior, Cryptorchidism, Renal cyst, Anteriorly placed anus, Attention d...	ORPHA:495875
Hydranencephaly	Lethargy, Atrophic pituitary gland	ORPHA:2177
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increase...	OMIM:264090
Pagod Syndrome	Abnormality of the spleen, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypopl...	ORPHA:991
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hypocalcemia, Hyperbilirubinemia, ...	ORPHA:163979
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Ureteral duplication, Intestinal malrotation, Biliary atresia, Glycosuria, Co...	OMIM:600001
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Dyggve-Melchior-Clausen Disease	Frequent falls, Spastic tetraparesis, Protuberant abdomen	ORPHA:239
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, High palate	OMIM:618162
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen	OMIM:200600
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Re...	ORPHA:79318
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Asplenia, Pulmonary lymphangiectasia, Dilatation of the renal pelvis, D...	OMIM:265380
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal pro...	ORPHA:904
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Feeding difficulties, 3-Methylglutaric aciduria, 3-Methylglutaconic aci...	OMIM:617248
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Asplenia, Renal hypoplasia, Abdominal situs inversus, Ab...	OMIM:270100
Scorpion Envenomation	Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia, Abdominal pai...	ORPHA:466677
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Papillary...	ORPHA:363618
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Dystonia, Feeding difficulties, Lower limb hypertonia, Gastro...	OMIM:616268
Greenberg Dysplasia	Hepatomegaly, Hepatosplenomegaly, Stillbirth, Protuberant abdomen, Neonatal death	OMIM:215140
Atelosteogenesis, Type I	Neonatal death, Stillbirth, Protuberant abdomen	OMIM:108720
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Hypospadias, Pyloric stenosis	OMIM:147791
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis, Renal agenesis, Urethral atresia	OMIM:273395
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Apathy, ...	OMIM:601104
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:216400
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Pineoblastoma	Lethargy, Pinealoma	ORPHA:251909
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly	ORPHA:3384
Neu-Laxova Syndrome 2	Protuberant abdomen	OMIM:616038
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Intestinal malrotation, Splenomegaly, Cleft palate, Multiple renal cysts	ORPHA:955
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Left ventricular hypertrophy, Gastrostomy ...	ORPHA:576
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Cleft palate, Abnormal localization of...	ORPHA:1596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydronephrosis,...	OMIM:615287
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Cleft palate, Colon cancer, Stomach cancer, N...	ORPHA:1052
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Ectopic anus, Bifid tongue, An...	ORPHA:1507
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Multicystic kidney dysplasia, Intestinal malrotation, Cleft palate, High palate, B...	OMIM:300373
Atelosteogenesis Type Ii	Protuberant abdomen	ORPHA:56304
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Abdominal distention, Constipation, Vomiting	OMIM:235730
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Viss Syndrome	Abdominal distention, Chronic diarrhea, Hypereosinophilia, Feeding difficulties, Chronic constipa...	OMIM:619472
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Rothmund-Thomson Syndrome, Type 2	Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate	OMIM:268400
Robinow Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Bifid tongue, Ankylogloss...	ORPHA:97360
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Horseshoe kidney	ORPHA:221120
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Intestinal pseudo-obstruction, Decreased response to growth hormon...	ORPHA:273
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Anal stenosis, Re...	OMIM:107480
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Cleft p...	ORPHA:1308
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins...	ORPHA:199
Fraser Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Anal stenosis, Cryptorchidism, Re...	ORPHA:2052
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Micropenis, Anal ...	OMIM:617925
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Protuberant abdomen	OMIM:618019
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Urogenital sinus anomaly, High palate, Abnormal renal...	ORPHA:96176
Weill-Marchesani Syndrome 2	Protuberant abdomen	OMIM:608328
Genitopatellar Syndrome	Anal stenosis, Multicystic kidney dysplasia, Cryptorchidism, Malrotation of small bowel, Anterior...	OMIM:606170
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Submucous cleft hard palate, Horseshoe k...	OMIM:617140
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen	ORPHA:50945
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Hepatosplenomegaly, Feeding difficulties, Protuberant abdomen, Gastrostomy tube fee...	ORPHA:96334
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl...	ORPHA:709
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ...	OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Neonatal de...	OMIM:308205
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:261537
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral renal agenesis, Bilateral renal dysplasia, Cleft palate, Horseshoe...	ORPHA:500150
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormalit...	OMIM:261540
Pallister-Killian Syndrome	Renal dysplasia, Anal stenosis, Hypospadias, Intestinal malrotation, Supernumerary nipple, Crypto...	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi...	OMIM:164210

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 Cys1

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 Cys1.

No publications found that use IMPC mice or data for Cys1.

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MGI Allele	Allele Type	Produced
Cys1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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