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Gene: Hif1an MGI:2442345

Gene Summary

Name:

hypoxia-inducible factor 1, alpha subunit inhibitor

Synonyms:

FIH, A830014H24Rik, 2310046M24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Hif1an^em1(IMPC)Mbp	HOM	Early adult	2.11×10^-05
prolonged QRS complex duration	Hif1an^em1(IMPC)Mbp	HOM	Early adult	6.08×10^-05
abnormal coat/hair pigmentation	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.06×10^-11
increased neutrophil cell number	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.44×10^-06
enlarged spleen	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.72×10^-10
abnormal bone structure	Hif1an^em1(IMPC)Mbp	HOM	Early adult	2.67×10^-06
decreased prepulse inhibition	Hif1an^em1(IMPC)Mbp	HOM	Early adult	5.55×10^-06
abnormal skin morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Human diseases caused by Hif1an 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 Hif1an (0 diseases)
Human diseases predicted to be associated with Hif1an (1194 diseases)

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

The table below shows human diseases predicted to be associated to Hif1an by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin...	ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess...	ORPHA:276556
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ...	ORPHA:276580
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Congestive heart failure, Obesity, Increased LDL cholesterol concentration, T...	OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus	OMIM:608320
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Dementia, Hepatomegaly, Splenomegaly	ORPHA:2274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Neonatal hypoglycemia, Hyperkalemia, Abnormal circulating dehy...	ORPHA:90794
N-Acetylglutamate Synthase Deficiency	Alkalosis, Failure to thrive, Respiratory distress, Hyperammonemia, Hyperglutamatemia, Aggressive...	OMIM:237310
Acute Liver Failure	Acidosis, Gastrointestinal hemorrhage, Hypotension, Elevated circulating hepatic transaminase con...	ORPHA:90062
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t...	OMIM:612526
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hepatic failure, Sinus tachycardia, Decreased liver functio...	ORPHA:466650
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ...	OMIM:607624
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Citrullinemia Type I	Hepatic failure, Failure to thrive, Respiratory alkalosis, Hyperammonemia, Lethargy, Tachypnea, T...	ORPHA:247525
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv...	OMIM:301033
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Hyperphosphatemia, Acute hepatic failure, Exercise-induced rhabdomyolysis, ...	ORPHA:423
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71526
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Metabolic acidosis, Arrhythmia, Tachypnea, Hepatomeg...	ORPHA:26793
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Large for ...	ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Transient Neonatal Diabetes Mellitus	Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly...	ORPHA:99886
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H...	ORPHA:528
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:615160
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv...	ORPHA:70591
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio...	OMIM:214450
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Trimethylaminuria	Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ...	OMIM:164310
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Lactic acidosis, Splenomeg...	OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Increased circulating lactate concentration, Ketoacidosis, Respiratory alkalosi...	OMIM:615751
Pituitary Adenoma 4, Acth-Secreting	Alkalosis, Pituitary adenoma, Skeletal muscle atrophy, Abnormal fear-induced behavior, Increased ...	OMIM:219090
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Ventricular fibrillation, Prolong...	ORPHA:358
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dy...	OMIM:208540
East Syndrome	Polydipsia, Lower limb muscle weakness, Hypomagnesemia, Hyperaldosteronism, Difficulty walking, I...	ORPHA:199343
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Type 1 Diabetes Mellitus	Polydipsia, Ketoacidosis, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in se...	OMIM:222100
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure	ORPHA:46532
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventric...	ORPHA:251274
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepat...	OMIM:610539
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hepatosplenomegaly, Hyperch...	ORPHA:79237
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Cholest...	ORPHA:85445
Sitosterolemia 2	Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste...	OMIM:617303
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla...	ORPHA:369929
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia...	OMIM:617885
Beta-Ketothiolase Deficiency	Acidosis, Hypotension, Increased circulating lactate concentration, Ketoacidosis, Hypoglycemia, A...	ORPHA:134
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Propionic Acidemia	Failure to thrive, Cardiomyopathy, Hypoglycemia, Apnea, Hyperglycinemia, Hyperammonemia, Metaboli...	OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Falls, Difficulty walking, Hypertrophic cardiomyopat...	OMIM:618222
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp...	OMIM:151660
Temple Syndrome	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Obesity, Hype...	OMIM:616222
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased circulating lactate concentration, Failure to thrive, Hypomagnesemia, Hyperuricemia, Hy...	OMIM:613845
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin...	OMIM:620085
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Diarrhea 1, Secretory Chloride, Congenital	Alkalosis, Failure to thrive, Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypok...	OMIM:214700
Gitelman Syndrome	Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Palpitations, Rhab...	OMIM:263800
Scorpion Envenomation	Hyperglycemia, Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, Tachypnea, Ataxia, ...	ORPHA:466677
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Hepatic failure, Elevated circulat...	ORPHA:159
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,...	OMIM:610883
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac...	ORPHA:247585
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Obesity, Hype...	ORPHA:254531
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal fibrosis, ...	ORPHA:264580
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Failure to thrive, Hypoglycemia, Congestive heart fa...	OMIM:619048
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha...	ORPHA:399
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Respiratory alkalosis, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoar...	OMIM:237300
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Right ventricula...	ORPHA:860
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Distal amyotrophy, Distal lower limb muscle weakness, Steppage gait, Hypercholes...	ORPHA:94124
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Oral-pharyngeal dysphagia, Torsade de pointes, Rhabdomyolysis, Metabolic acidosis, Ataxia, Ventri...	OMIM:616878
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	ORPHA:79240
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype...	OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Respiratory distress, Lethargy, Increased circulating procalcitonin concentra...	ORPHA:36238
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypo...	ORPHA:231580
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Hyponatremia, Lethargy, Weight loss, Anorexia, Diabetes insipidus	ORPHA:178029
Coproporphyria, Hereditary	Depression, Elevated urinary coproporphyrin level, Confusion, Increased urinary porphobilinogen, ...	OMIM:121300
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Respiratory distress, Elevated circulating carcinoembryonic antigen...	ORPHA:264675
Cystinosis	Type I diabetes mellitus, Polydipsia, Failure to thrive, Portal hypertension, Myopathy, Hypokalem...	ORPHA:213
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc...	OMIM:255100
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis	OMIM:620195
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole...	ORPHA:369873
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Elevated circulating hepatic transaminase concentration, Car...	OMIM:212138
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Distal amyotrophy, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnor...	ORPHA:464329
Sandhoff Disease	Congestive heart failure, Progressive psychomotor deterioration, Splenomegaly, Motor deterioratio...	ORPHA:796
Laron Syndrome	Short toe, Hypoglycemia, Delayed puberty, Brachydactyly, Truncal obesity, Hypercholesterolemia, A...	ORPHA:633
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Inc...	ORPHA:20
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat...	ORPHA:882
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur...	ORPHA:90674
Smith-Magenis Syndrome	Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body...	OMIM:182290
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,...	OMIM:616834
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Hypotonia-Cystinuria Syndrome	Increased circulating lactate concentration, Failure to thrive, Decreased response to growth horm...	OMIM:606407
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:139406
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Sinus...	ORPHA:525731
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperglycemia, Metabolic acidosis, Tachypnea, Anorexia, Hepatomegaly...	ORPHA:3008
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia,...	OMIM:266510
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:329249
Apparent Mineralocorticoid Excess	Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r...	ORPHA:320
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit...	OMIM:609734
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:600649
Citrullinemia, Classic	Failure to thrive, Respiratory alkalosis, Hyperammonemia, Lethargy, Cirrhosis, Hyperglutaminemia,...	OMIM:215700
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Cognitive impairment, Hepatomegaly, Jaundice, Reduced bone mineral den...	ORPHA:172
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Paroxysmal ...	OMIM:613205
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepa...	ORPHA:415
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper...	ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 54	Increased circulating lactate concentration, Lower limb muscle weakness, Hyperglycemia, Obesity, ...	OMIM:619737
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoulder girdle musc...	ORPHA:2020
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Temple Syndrome	Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim...	ORPHA:254516
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl...	ORPHA:137675
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypertension, Hypothyroidism, Hyperchol...	ORPHA:77296
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Acute Lung Injury	Diffuse alveolar hemorrhage, Shock, Respiratory distress, Addictive alcohol use, Tachypnea, Eleva...	ORPHA:178320
Analbuminemia	Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole...	OMIM:616000
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster...	OMIM:218030
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Polydactyly, Postaxial polydactyl...	OMIM:615986
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is...	ORPHA:90065
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly	OMIM:608776
Diaphanospondylodysostosis	Delayed vertebral ossification, Nephrogenic rest, Horseshoe kidney, Hypoplastic fingernail, Nephr...	OMIM:608022
Hypercholesterolemia, Familial, 4	Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholest...	OMIM:603813
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Fa...	OMIM:615838
Acquired Methemoglobinemia	Acidosis, Respiratory distress, Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia	ORPHA:464453
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Metabolic acidosis, Pancreatitis, Abnormal blood gas level, Hypox...	ORPHA:70578
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Tachypnea, Elevated jugular venous pressure, Hepatome...	ORPHA:1329
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Cogn...	ORPHA:731
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Obesity, Hype...	ORPHA:96184
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Whipple Disease	Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Polydipsia, Anorexia, Splenomegaly,...	ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 24	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, M...	OMIM:616239
H Syndrome	Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, Fac...	ORPHA:168569
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri...	OMIM:615474
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, Left bundle branc...	OMIM:601493
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Irritability, Thrombocytopenia, Hepatomegaly, Dystonia, Hemolytic anemia	OMIM:615010
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Renal dysplasia,...	OMIM:608836
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Limb-girdle muscular dystrophy, Hypocholesterolemia, Dysmetria, Decreas...	ORPHA:96180
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Respiratory alkalosis, Elevated circulating aspartate aminot...	OMIM:207900
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Combined Oxidative Phosphorylation Deficiency 52	Increased circulating lactate concentration, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated ...	OMIM:619386
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Hereditary Central Diabetes Insipidus	Lethargy, Diabetes insipidus, Weight loss, Polydipsia	ORPHA:30925
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Respiratory alkalosis, Episodic ataxia, Elevated circulating uracil concentrat...	OMIM:311250
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Lactic acidosis, Hyper...	OMIM:614299
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej...	ORPHA:542323
High Altitude Pulmonary Edema	Cyanosis, Tachypnea, Anorexia, Tachycardia, Hypoxemia	ORPHA:330012
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract...	OMIM:617585
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi...	OMIM:608594
Dysbetalipoproteinemia	Acute pancreatitis, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Obesity, Xanth...	ORPHA:412
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Atrial Standstill	Atrial standstill, Muscular dystrophy, Skeletal muscle atrophy, Abnormal P wave, Cardiomyopathy, ...	ORPHA:1344
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Increased circulating lactate concentration, Failure to thrive, Hypoglycemia, El...	OMIM:617872
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Ketoacidosis, Hypoglycemia, Decreased li...	OMIM:246900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Hepatic ...	ORPHA:280365
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Ulnar deviation of the 2nd finger, Skeletal muscle fibrosis, Ataxi...	ORPHA:456312
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Increased adipose tissue around the neck, Increased facial adipos...	OMIM:248370
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Failure to thrive, Decreased response to growth hormo...	ORPHA:485405
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Small hand, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular...	ORPHA:401923
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Inability to walk, Hypogonadism, Failure to thrive ...	OMIM:615547
Infantile Sialic Acid Storage Disease	Osteopenia, Hypopigmentation of the skin, Fair hair, Congestive heart failure, Ascites, Splenomeg...	OMIM:269920
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Myopathy, Hypertriglyceridemia	ORPHA:366
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome...	OMIM:614857
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Nasal flaring, Hypoxemia	ORPHA:70587
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Glut1 Deficiency Syndrome 2	Reticulocytosis, Splenomegaly, Irritability, Tremor, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Babesiosis	Hepatic failure, Depression, Congestive heart failure, Confusion, Leukopenia, Renal insufficiency...	ORPHA:108
Squalene Synthase Deficiency	Elbow flexion contracture, Failure to thrive in infancy, Hypocholesterolemia, Knee flexion contra...	OMIM:618156
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hepatic steatos...	OMIM:269700
Pyloric Stenosis, Infantile Hypertrophic, 1	Failure to thrive, Hypochloremic metabolic alkalosis	OMIM:179010
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat...	OMIM:614921
Graves Disease	Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Polyphagia, Weig...	OMIM:275000
Smith-Magenis Syndrome	Precocious puberty, Self-injurious behavior, Toe syndactyly, Failure to thrive in infancy, Obesit...	ORPHA:819
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Distal amyotrophy, Limb ataxia, Gait ataxia, Elevated circulating creatine kinas...	OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Acute Peripheral Arterial Occlusion	Acidosis, Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abno...	ORPHA:90064
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Holocarboxylase Synthetase Deficiency	Ataxia, Respiratory distress, Hyperammonemia, Lethargy, Weight loss, Tachypnea, Anorexia	ORPHA:79242
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Hypokalemic alkalosis, Abnormal magnesium concentr...	OMIM:241150
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypop...	ORPHA:449285
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Niemann-Pick Disease, Type B	Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegal...	OMIM:607616
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Dilated cardiomyopathy, Fatigable weakness of skeletal muscles, Left ventricular systolic dysfunc...	ORPHA:206559
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Myopathy, Talipes equinovarus, Cirrhosis...	ORPHA:14
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Apnea, Metabolic acidosis, Lethargy, Hepatomegaly, Tachycardia	OMIM:229700
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Hypercalcemia, Spl...	OMIM:239200
Familial Hyperaldosteronism Type I	Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyper...	ORPHA:403
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Atypical Rett Syndrome	Restrictive behavior, Small hand, Inability to walk, Bruxism, Inappropriate laughter, Sudden epis...	ORPHA:3095
Naxos Disease	Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Subungual hyperkerat...	OMIM:601214
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress...	OMIM:614963
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Decreased respo...	OMIM:610978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Tubulointerstitial fibrosis, Cognitive impairment, Hepatomegaly, Chronic neutr...	ORPHA:79259
Hypobetalipoproteinemia, Familial, 1	Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Hyper...	OMIM:615558
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Obesity, Large for gestational age, Polydactyly, Polyph...	OMIM:617119
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Craniosynostosis, Enla...	OMIM:200995
Ethylene Glycol Poisoning	Hypotension, Hyperkalemia, Elevated serum anion gap, Congestive heart failure, Shock, Lactic acid...	ORPHA:31826
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,...	ORPHA:2204
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant...	ORPHA:769
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Metabolic alkalosis, Hypertension, Glu...	ORPHA:231632
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hepatomegaly, Increased circulating lactate concentration, Hypochole...	OMIM:618810
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tis...	OMIM:606721
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Reduced renal corticomedullary differentiation, Splenomegaly, Osteo...	OMIM:618541
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Insulin insensitivity, Hypogonadism, Palpitations, Type II diabet...	OMIM:602668
Glycogen Storage Disease Iii	Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:232400
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Sepsis In Premature Infants	Hypotension, Decreased liver function, Splenomegaly, Cyanosis, Decreased body weight, Metabolic a...	ORPHA:90051
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Prader-Willi Syndrome	Small hand, Clinodactyly, Decreased muscle mass, Hyperinsulinemia, Genu valgum, Type II diabetes ...	OMIM:176270
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los...	ORPHA:2126
Juvenile Neuronal Ceroid Lipofuscinosis	Episodic tachypnea, Apnea, Loss of ambulation, Motor stereotypy, Tachycardia, Dysphagia	ORPHA:79264
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer...	OMIM:615812
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Premat...	ORPHA:100
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Alpha-Heavy Chain Disease	Alopecia, Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomy...	OMIM:618235
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Proteinuria, Episodic hemolytic anemia, Membranoproliferat...	ORPHA:251004
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dystonia, Splenomegaly	ORPHA:77260
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hypomagnesemia, Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypokal...	OMIM:612780
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Bronchopulmonary Dysplasia	Right ventricular failure, Respiratory distress, Right ventricular hypertrophy, Central apnea, Hy...	ORPHA:70589
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Mucopolysaccharidosis, Type Iiib	Coarse hair, Dense calvaria, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Cardiom...	OMIM:252920
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Transient...	OMIM:115197
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,...	ORPHA:381
Cardiogenic Shock	Mitral regurgitation, Metabolic acidosis, Arrhythmia, Elevated jugular venous pressure, Hepatomeg...	ORPHA:97292
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism, Hypercapnia, Abnormality of the diaphragm	ORPHA:505395
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hypokalemia, Increased circulating T4 concentration, Weight loss, Increased circulating f...	OMIM:613239
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Failure to thrive	OMIM:263000
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov...	ORPHA:398124
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr...	ORPHA:99106
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te...	ORPHA:453533
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Tremor, Hepatomegaly	OMIM:616719
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, A...	ORPHA:293987
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive h...	ORPHA:454836
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Obesity, Hypogonadotropic hypogonadism, Polyphagia, Short foot, Abnormal ulnar metaph...	ORPHA:177910
Congenital Myopathy 13	Skeletal muscle atrophy, Weakness of facial musculature, Fatty replacement of skeletal muscle, In...	OMIM:255995
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Left...	OMIM:261740
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Left ventricular noncompaction, Tricuspid regurgitation, Reduced left ventr...	OMIM:616501
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Apnea, Lactic acidosis, Hepatic st...	OMIM:261680
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Sandal gap, Failure to ...	ORPHA:79324
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Cholera	Hypovolemic shock, Hypotension, Acidosis, Hypoglycemia, Abnormal blood ion concentration, Lactic ...	ORPHA:173
Immunodeficiency 7	Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphade...	OMIM:615387
Joubert Syndrome 10	Postaxial foot polydactyly, Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, ...	OMIM:300804
Hereditary Coproporphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Atypical scarri...	ORPHA:79273
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Weight loss, Anorexia, Elevated circulating C-reactive protein co...	ORPHA:1302
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Failure to thrive, Heart murmur, Hypocalcemia, Cyanosis, Tachyp...	ORPHA:3426
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Free Sialic Acid Storage Disease	Iris hypopigmentation, Ascites, Splenomegaly, Proteinuria, Abnormality of skin pigmentation, Hepa...	ORPHA:834
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
14Q11.2 Microduplication Syndrome	Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior	ORPHA:261229
Central Hypoventilation Syndrome, Congenital, 1	Apnea, Decreased heart rate variability, Hypoxemia, Hypercapnia	OMIM:209880
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased bone min...	ORPHA:37748
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema...	ORPHA:449395
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:98793
Tetanus	Respiratory distress, Elevated circulating creatine kinase concentration, Tachypnea, Dysphagia, B...	ORPHA:3299
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Broad-based gait, Obesity, Polyphagia, Tapered finger	ORPHA:171829
Anemia, Congenital Dyserythropoietic, Type Ib	Small nail, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production...	OMIM:615631
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:177904
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:177901
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive hea...	OMIM:235200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:98754
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Elevated serum anion gap, Ketoacidosis, Hypogl...	OMIM:618120
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating re...	OMIM:613677
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh...	ORPHA:95427
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Ataxia, Bradykinesia, Dysphagia, Incr...	ORPHA:254892
Bacterial Toxic-Shock Syndrome	Cellulitis, Hypoalbuminemia, Hypotension, Increased circulating lactate concentration, Hepatitis,...	ORPHA:36234
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf...	ORPHA:275761
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology...	ORPHA:2584
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli...	OMIM:618126
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Bilateral talipes equinovarus	OMIM:616521
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ...	OMIM:609152
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hypokale...	OMIM:177200
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Rhabdomyolysis, Hypokalemia, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D...	ORPHA:42
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card...	ORPHA:439232
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Limb...	OMIM:604320
Primary Pulmonary Hypoplasia	Failure to thrive, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Apnea, Cyanosis, Tachy...	ORPHA:2257
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Hirsutism	ORPHA:90301
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati...	ORPHA:368
Chronic Pneumonitis Of Infancy	Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia	ORPHA:91359
Niemann-Pick Disease, Type A	Athetosis, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate ami...	OMIM:257200
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Osteopenia, Sparse eyebrow, Hypopigmentation of the skin, Congestive heart ...	OMIM:252500
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
X-Linked Acrogigantism	Abnormal oral glucose tolerance, Pituitary adenoma, Increased circulating prolactin concentration...	ORPHA:300373
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Tremor, H...	ORPHA:33445
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Myopathy, Metabolic acidosis, Weight ...	OMIM:219800
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri...	ORPHA:39812
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Hypocalcemia, Pulmonary arterial hypertension, Hypothyroidi...	OMIM:601005
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Hepatomegaly, Throm...	OMIM:231000
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Variegate Porphyria	Tachycardia	OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest...	ORPHA:64753
Ataxia With Vitamin E Deficiency	Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia,...	OMIM:277460
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Lethargy, Multiple lipomas, Gait disturb...	ORPHA:765
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Talipes equinovarus, Pel...	ORPHA:273
Glycogen Storage Disease Ixc	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:613027
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Acute...	ORPHA:71212
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Sialidosis Type 2	Nephropathy, Ascites, Splenomegaly, Tremor, Hepatomegaly, Osteoporosis	ORPHA:87876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Hypertrichosis, Tricuspid regurgitation, Abnormal...	ORPHA:79328
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Polydipsia	OMIM:619468
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Recurrent Respiratory Papillomatosis	Failure to thrive, Respiratory distress, Tachypnea, Syncope, Choking episodes, Dysphagia	ORPHA:60032
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmu...	OMIM:601859
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Necrotizing Enterocolitis	Acidosis, Hypotension, Increased circulating lactate concentration, Shock, Hyperglycemia, Apnea, ...	ORPHA:391673
Porphyria Variegata	Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:79473
Renal Glucosuria	Polyphagia, Polydipsia, Glycosuria	OMIM:233100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Spleno...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil...	OMIM:613489
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Meconium Aspiration Syndrome	Respiratory distress, Pulmonary arterial hypertension, Maternal diabetes, Abnormal heart rate var...	ORPHA:70588
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Lymphoid Interstitial Pneumonia	Pulmonary venous hypertension, Raynaud phenomenon, Hepatomegaly, Mediastinal lymphadenopathy, Enl...	ORPHA:79128
Tenorio Syndrome	Macroglossia, Hypoglycemia, Apnea, Gait disturbance, Syncope, Raynaud phenomenon, Hypoinsulinemia	OMIM:616260
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis, Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Sandal gap, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, At...	ORPHA:228402
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Osteopenia, Splenic cyst, Subperiosteal bone formation, Enlarged kidney	OMIM:618188
Gaisböck Syndrome	Elevated diastolic blood pressure, Obesity, Increased circulating renin level, Cholecystitis, Hyp...	ORPHA:90041
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Rh Deficiency Syndrome	Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, Jaundice, Tachypnea, Tachycard...	ORPHA:71275
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Serotonin Syndrome	Hypotension, Hepatic failure, Lactic acidosis, Rhabdomyolysis, Tachypnea, Tachycardia, Restlessne...	ORPHA:43116
Hydroxykynureninuria	Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic aci...	ORPHA:79155
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi...	ORPHA:95717
Mucopolysaccharidosis, Type Iiic	Coarse hair, Dense calvaria, Hypertrichosis, Heparan sulfate excretion in urine, Splenomegaly, Hi...	OMIM:252930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:610131
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Severe Acute Respiratory Syndrome	Respiratory distress, Diabetes mellitus, Hypoxemia	ORPHA:140896
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Hypoglycemia, Lactic acidosis, Increased serum pyruv...	OMIM:266150
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Decreased liver function, Hypertrophic cardiomyopathy, Congestive heart fai...	ORPHA:70472
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Muscle Filaminopathy	Left ventricular hypertrophy, Left ventricular diastolic dysfunction, Right bundle branch block, ...	ORPHA:171445
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Small hand, Central hypothyroidi...	ORPHA:398079
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:616267
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Cyanosis, Tachypnea, Elevated circulating C-reacti...	ORPHA:79126
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin...	ORPHA:158029
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Joubert Syndrome 7	Ataxia, Episodic tachypnea, Genu valgum, Postaxial polydactyly, Tachypnea, Central apnea, Postaxi...	OMIM:611560
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Failure to thrive, Hypomethioninemia, Metabolic acidosis, Lethargy...	OMIM:277400
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive	ORPHA:163690
Wolfram Syndrome	Male hypogonadism, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Hypogonadism, Abnorma...	ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Mitral regurgitation, Tachypnea, Ataxia, Persistent lactic acidosis, Dysphagia, Se...	OMIM:220111
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Cirr...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Failure to thrive, Hypoglycemia, Hypertrophic cardio...	OMIM:614702
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Tachypnea	OMIM:616414
Megalocornea-Intellectual Disability Syndrome	Metatarsus valgus, Hypothyroidism, Hypercholesterolemia, Ataxia, Motor stereotypy, Genu varum, Ta...	ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 72	Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Facial hypotonia	OMIM:620439
Andersen-Tawil Syndrome	Small hand, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extra...	ORPHA:37553
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Irritability, Osteolyti...	OMIM:228000
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Osteopenia, ...	ORPHA:77259
Congenital Fibrinogen Deficiency	Cyanosis, Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Tachycardia, Right ...	ORPHA:335
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Osteopenia, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis...	OMIM:211600
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Placental Insufficiency	Insulin resistance, Hypoxemia, Small for gestational age	ORPHA:439167
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper...	ORPHA:567548
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Premature...	OMIM:613989
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Small hand, Abnormal temper tantrums, Central hypothyr...	ORPHA:398069
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Bickerstaff Brainstem Encephalitis	Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Ataxia, Facial palsy, Hyp...	ORPHA:79138
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension, Agitatio...	OMIM:613870
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentratio...	OMIM:145600
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi...	ORPHA:263297
Hurler-Scheie Syndrome	Cardiomyopathy, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Arac...	OMIM:616730
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Polydipsia, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Polyda...	OMIM:615994
Parathyroid Carcinoma	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shorten...	ORPHA:143
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon...	ORPHA:94093
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Anorexia, Cardiac arrest, Diab...	ORPHA:49827
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, D...	ORPHA:99827
Biotinidase Deficiency	Apnea, Hyperammonemia, Splenomegaly, Lethargy, Tachypnea, Ataxia, Hepatomegaly, Metabolic ketoaci...	OMIM:253260
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Reduced ...	OMIM:620210
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Right ventricular hypertrophy, Cyanosis, Tachypnea, Hepatomegaly, Hypoxe...	ORPHA:555874
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, H...	OMIM:616589
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Epiphyseal stippling, ...	OMIM:256550
Neuhauser Syndrome	Genu valgum, Primary hypothyroidism, Arachnodactyly, Hypercholesterolemia, Ataxia, Dysphagia	OMIM:249310
Mucopolysaccharidosis, Type Iiia	Coarse hair, Dense calvaria, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatom...	OMIM:252900
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death	OMIM:314390
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
X-Linked Sideroblastic Anemia	Anemia, Hyperpigmentation of the skin, Splenomegaly, Elevated circulating hepatic transaminase co...	ORPHA:75563
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrop...	ORPHA:3162
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Methionine Malabsorption Syndrome	Positive ferric chloride test, Tachypnea	OMIM:250900
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:91547
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Sp...	OMIM:607626
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Cardiomyopathy, Respiratory distress, Hyperglycinemia, Hyperammo...	OMIM:251000
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ...	ORPHA:2088
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva...	OMIM:216360
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis, Tachypnea, Pulmonary arterial hy...	OMIM:613320
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated...	ORPHA:57777
Man1B1-Cdg	Broad-based gait, 2-3 toe syndactyly, Polyphagia, Truncal obesity, Clinodactyly of the 5th finger	ORPHA:397941
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly	OMIM:615085
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:613490
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Atrioventricular block, Second d...	OMIM:300257
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Tachycardia, Shock, Elevated circulating creatinine concentration, Bradycardi...	ORPHA:99826
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Gray Platelet Syndrome	Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Infantile Nephropathic Cystinosis	Acidosis, Polydipsia, Glycosuria, Failure to thrive, Abnormality of thyroid physiology, Hypokalem...	ORPHA:411629
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Rhabdomyolysis, Metabolic acidosis, Arrhythmia, He...	ORPHA:26791
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaph...	ORPHA:2140
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Glycosuria, Failure to thrive, Elevated circulating creatinine concentr...	ORPHA:411634
Erdheim-Chester Disease	Polydipsia, Congestive heart failure, Xanthelasma, Hypogonadotropic hypogonadism, Weight loss, At...	ORPHA:35687
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal...	OMIM:612714
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc...	ORPHA:93111
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Nephrogenic Diabetes Insipidus	Polydipsia, Failure to thrive, Nephrogenic diabetes insipidus, Anorexia, Hypernatremia, Hypovolemia	ORPHA:223
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Increased b...	OMIM:611490
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Leber Hereditary Optic Neuropathy	Ataxia, Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Polydipsia, Failure to thrive, Hypernatremia	OMIM:304800
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:895
Ogden Syndrome	Torsade de pointes, Premature ventricular contraction, Arrhythmia, Torticollis, Jaundice, Macrove...	OMIM:300855
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Polydipsia, Nephrogenic diabetes insipidus, Failure to thrive	OMIM:125800
Classic Phenylketonuria	Mental deterioration, Memory impairment, Depression, Hypopigmentation of the skin, Tremor, Attent...	ORPHA:79254
Cardiocranial Syndrome, Pfeiffer Type	Slender finger, Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proxi...	ORPHA:2872
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Hallu...	OMIM:618348
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Cognitive impairment, Nephrotic syndrom...	ORPHA:324
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:615453
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Septo-Optic Dysplasia Spectrum	Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnorm...	ORPHA:3157
Frontotemporal Dementia	Polyphagia, Inappropriate laughter, Disinhibition	OMIM:600274
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Oxygen desaturation on exertion, Stippled calcification in carpal bone...	ORPHA:60025
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Short attention span, First degree atrioventricular block, Enuresis, Bradyph...	ORPHA:589821
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Renal hypoplasia, Trichorrhexis nodosa, Lymphopenia, Abno...	ORPHA:84064
Mercury Poisoning	Hypotension, Respiratory distress, Hypokalemia, Anorexia, Tachycardia, Hypertension	ORPHA:330021
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Familial Dysautonomia	Hyponatremia, Gait disturbance, Orthostatic hypotension, Abnormal peritoneum morphology, Ataxia, ...	ORPHA:1764
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, S...	ORPHA:79444
Omenn Syndrome	Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymph...	ORPHA:39041
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Depression, Elevated circulating hepatic transaminase concentration,...	ORPHA:2137
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Bartter Syndrome, Type 2, Antenatal	Chondrocalcinosis, Polydipsia, Failure to thrive, Hyperchloriduria, Hypomagnesemia, Hyperaldoster...	OMIM:241200
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Polyphagia, Calcinosis, Choreoathetosis, Short metacarpal, Broad distal phalan...	ORPHA:79443
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Tremor, Arrhythmia, Hepatomegaly, Cardiac a...	ORPHA:99745
Felty Syndrome	Bone marrow hypocellularity, Irregular hyperpigmentation, Recurrent urinary tract infections, Abn...	ORPHA:47612
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	OMIM:613658
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Polydipsia, Shortened QT inter...	ORPHA:99880
Joubert Syndrome 23	Tachypnea, Apnea, Polydactyly	OMIM:616490
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypertension, Abnormal int...	ORPHA:363618
Brain-Lung-Thyroid Syndrome	Falls, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Respira...	ORPHA:209905
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Osteopenia, Anemia, Splenomegaly	OMIM:618107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Myositis, Telangiectasia, Tachypnea, Raynaud phenomen...	OMIM:615934
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Mitral stenosis, Hypopla...	OMIM:306955
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Hypertension, Tachycardia, Diab...	OMIM:184850
Mcleod Syndrome	Atrial fibrillation, Depression, Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating asp...	OMIM:300842
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Angelman Syndrome	Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela...	ORPHA:72
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg...	ORPHA:91138
Pancreatic Agenesis-Holoprosencephaly Syndrome	Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Absent gallbladder, Reduced C-pepti...	ORPHA:556955
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased circulating lactate concentration, Dilated cardiomyopathy, Gait ataxia, Aggressive beha...	OMIM:618321
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Cirrhosis, Hepatomegaly, Ventricu...	OMIM:270400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf...	ORPHA:116
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s...	ORPHA:90068
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Apnea, Acute hyperammonemia, Lethargy, ...	OMIM:210200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Increased total bilirubin, Splenomegaly, Congestive heart failure	ORPHA:90037
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Jaun...	ORPHA:521219
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Slc35A1-Cdg	Cellulitis, Pulmonary hemorrhage, Hypoxemia, Respiratory distress	ORPHA:238459
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Hy...	ORPHA:480864
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Hyperpigmentation of the skin, Lymphadenopathy, ...	OMIM:609981
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic card...	OMIM:612158
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Osteolysis	ORPHA:391
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hypoxemia, Weight loss, Pulmonary venous hypertension	ORPHA:90060
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Hyperammonemia, Metabolic acidosis, Lethargy, Tachypnea	OMIM:253270
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Jaundice, ...	ORPHA:167
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Adrenocorticotropin def...	ORPHA:199299
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom...	OMIM:618495
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Surfactant Metabolism Dysfunction, Pulmonary, 1	Failure to thrive, Apnea, Cyanosis, Tachypnea, Pulmonary arterial hypertension, Clubbing	OMIM:265120
Joubert Syndrome 30	Tachypnea, Apnea, Postaxial hand polydactyly	OMIM:617622
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Hyper...	ORPHA:2260
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Spotty hyperpigmentation, Sinus tachycardia, Progressive clavicular acr...	OMIM:614008
Tularemia	Respiratory distress, Tachycardia	ORPHA:3392
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Sandhoff Disease	Progressive psychomotor deterioration, Increased urinary N-acetylglucosamine-rich oligosaccharide...	OMIM:268800
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum pros...	OMIM:601678
Wilson Disease	Depression, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic fai...	ORPHA:905
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ...	OMIM:251110
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Abnormal number of dense granules...	OMIM:614072
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Meacham Syndrome	Accessory spleen, Horseshoe kidney, Neonatal death, Stillbirth, Enlarged kidney	OMIM:608978
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ...	ORPHA:340
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr...	OMIM:620367
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Hypercholesterolemia, Familial, 3	Tendon xanthomatosis, Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci...	OMIM:602450
Surfactant Metabolism Dysfunction, Pulmonary, 2	Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Pulmonary arterial hypertension, Cl...	OMIM:610913
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Cognitive impairment	OMIM:616479
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea, Dysphagia	ORPHA:163961
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hyperaldosteronism, Hypomagnesemia, Hypocalcemi...	ORPHA:73224
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,...	ORPHA:537
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormality of the ureter, Splenomegaly, Aplasia/Hyp...	ORPHA:1133
Prolidase Deficiency	Facial hirsutism, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Lo...	OMIM:170100
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:36426
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Polydipsia, Failure to thrive, H...	OMIM:602522
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten...	OMIM:223900
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Preaxial foot polydac...	OMIM:619471
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Cognitive impairment, Brittle hair, Curly hair, Hepatomegaly, Jaundice, S...	OMIM:222470
Sarcoidosis, Susceptibility To, 2	Hypoxemia, Splenomegaly, Pulmonary arterial hypertension, Hepatomegaly, Facial palsy, Clubbing	OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 3	Failure to thrive, Respiratory distress, Apnea, Cyanosis, Tachypnea, Clubbing, Hypoxemia	OMIM:610921
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal insufficiency, Apnea, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia	OMIM:240200
Pulmonary Arteriovenous Malformation	Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic attack, Ischemic st...	ORPHA:2038
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Hypomagnesemia 3, Renal	Acidosis, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Hyperpho...	OMIM:248250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypercalcemia, Met...	OMIM:617994
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Hypoxemia	ORPHA:2902
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction, Left ventricular noncompaction cardiomy...	OMIM:604169
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ...	OMIM:256810
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Alagille Syndrome 1	Short distal phalanx of finger, Hepatic failure, Elevated circulating hepatic transaminase concen...	OMIM:118450
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys...	OMIM:607364
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Hypocholesterolemia, Failure to thrive, Metatarsus adductus	OMIM:244450
Acute Adrenal Insufficiency	Weight loss, Anorexia, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency, Decre...	ORPHA:95409
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Macroglossia, Sandal gap, Bruxism, Inappropriate laughter, Recurrent han...	OMIM:156200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia,...	OMIM:603554
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, Hepatomegaly, ...	ORPHA:17
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Sialuria	Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Atte...	OMIM:269921
Proteus Syndrome	Generalized hirsutism, Calvarial hyperostosis, Abnormality of the nail, Enlarged polycystic ovari...	ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Dyskeratosis Congenita	Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of the urethral m...	ORPHA:1775
Arima Syndrome	Ataxia, Hepatic fibrosis, Postaxial foot polydactyly, Polydipsia, Hepatic steatosis, Tachypnea, C...	OMIM:243910
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171420
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:192445
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Small nail, Polysplenia, Supernumerary nipple, Bundle ...	ORPHA:373
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Chroni...	ORPHA:465508
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac...	ORPHA:131
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Pseudobulbar pa...	ORPHA:79276
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious ...	ORPHA:534
Leprechaunism	Nephrocalcinosis, Long penis, Facial hypertrichosis, Hypertrichosis, Hypertrophic cardiomyopathy,...	ORPHA:508
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Alopecia of scalp, Emotional lability, Splenomegaly, Irritability, Tremor, Hepatomegaly, Paronychia	OMIM:201100
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Lymphade...	OMIM:615895
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Decreased liver function, Hyperglycemia, Apnea, Hyperglycinemia, Cya...	OMIM:620423
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Hyp...	OMIM:252010
Joubert Syndrome 1	Ataxia, Hepatic fibrosis, Postaxial foot polydactyly, Clinodactyly, Episodic tachypnea, Self-muti...	OMIM:213300
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Broad-based gait, Broad thumb, Small hand, Broad hallux, Restlessness, Tibial bow...	ORPHA:251028
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ...	OMIM:115195
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Joubert Syndrome With Oculorenal Defect	Apnea, Hand polydactyly, Tachypnea, Ataxia, Foot polydactyly, Abnormality of the hypothalamus-pit...	ORPHA:2318
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Hypopigmentation ...	ORPHA:2221
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Talipes equinovarus, P...	OMIM:277590
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Chronic hepatitis,...	OMIM:308230
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypoxemia, Weight loss, Clubbing	ORPHA:79127
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Dubowitz Syndrome	Hypocholesterolemia, Inguinal hernia, Hyperactivity, Clinodactyly of the 5th finger, Syndactyly	OMIM:223370
Asbestos Intoxication	Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugular reflux, Hypox...	ORPHA:2302
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Nephronophthisis 9	Polydipsia	OMIM:613824
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Metabolic acidosis, Br...	OMIM:619534
Trisomy 18P	Abnormal finger morphology, Polyphagia, Attention deficit hyperactivity disorder, Facial palsy	ORPHA:1715
Bartter Syndrome Type 4	Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Severe failure to thrive, Hyp...	ORPHA:89938
Porphyria, Congenital Erythropoietic	Osteopenia, Alopecia, Hypopigmentation of the skin, Cholelithiasis, Hypertrichosis, Reduced eryth...	OMIM:263700
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly, Osteolysis	OMIM:612852
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system	ORPHA:276280
Cardiomyopathy, Dilated, 2H	Reduced left ventricular ejection fraction, Tachypnea	OMIM:620203
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr...	ORPHA:90673
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Failure to thrive, Rhizomelic arm shorte...	ORPHA:397715
Macrocephaly/Autism Syndrome	Coarse hair, Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Hepatomegaly	OMIM:605309
Achondroplasia	Rhizomelia, Obesity, Trident hand, Limb undergrowth, Short proximal phalanx of finger, Brachydact...	ORPHA:15
Joubert Syndrome 3	Episodic tachypnea, Central apnea, Ataxia	OMIM:608629
Glycerol Kinase Deficiency	Muscular dystrophy, Increased circulating lactate concentration, Ketoacidosis, Hypoglycemia, Adre...	OMIM:307030
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat...	ORPHA:500095
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Splenomegaly...	ORPHA:742
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Increased total bilirubin	ORPHA:90036
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Leukopenia, Sple...	ORPHA:809
Adnp Syndrome	Abnormal temper tantrums, Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Oral-pharyngea...	ORPHA:404448
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Tangier Disease	Nail dystrophy, Splenomegaly, Nail dysplasia, Left ventricular hypertrophy, Hepatomegaly, Myocard...	OMIM:205400
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Weight loss, Abnormal circulating protein concentration, Clubbing, Hypoxemia	ORPHA:747
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Congenital hypoplastic anemia, Hypochrom...	ORPHA:77297
Immunodeficiency 10	Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Nail dysplasia, Ab...	OMIM:612783
Joubert Syndrome With Hepatic Defect	Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic tr...	ORPHA:1454
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Ochoa Syndrome	Polydipsia, Hypertension	ORPHA:2704
Pericardial And Diaphragmatic Defect	Palpitations, Congenital diaphragmatic hernia, Mitral stenosis, Hypoxemia, Aplasia of the left he...	ORPHA:2847
Simpson-Golabi-Behmel Syndrome, Type 1	Short nail, Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Hypertrichosis, Cardi...	OMIM:312870
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response	ORPHA:309155
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El...	OMIM:300942
Luscan-Lumish Syndrome	Polyphagia, Advanced ossification of carpal bones, Obesity, Aggressive behavior	OMIM:616831
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,...	OMIM:259720
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Finger swellin...	OMIM:309000
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Acrocyanosis, Clubbing of fingers	ORPHA:2032
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Proximal Renal Tubular Acidosis	Polydipsia, Glycosuria, Failure to thrive, Enamel hypomineralization, Bicarbonate-wasting renal t...	ORPHA:47159
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea	OMIM:267450
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Hermansky-Pudlak Syndrome 10	Ocular albinism, Splenomegaly, Hepatomegaly, Neutropenia, Albinism, Dystonia	OMIM:617050
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Memory impairme...	ORPHA:3260
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Vasculitis in the skin	OMIM:620296
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Acidosis, Glycosuria, Failure...	OMIM:227810
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Hypertrig...	ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Increased circulating lactate concentration, Failure...	OMIM:619418
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu...	OMIM:210250
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Multiple Sulfatase Deficiency	Coarse hair, Rapid neurologic deterioration, Thick eyebrow, Abnormality of retinal pigmentation, ...	ORPHA:585
Cardiac-Urogenital Syndrome	Accessory spleen, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Tachycardia, Paten...	OMIM:618280
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen...	ORPHA:85138
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Chro...	ORPHA:90033
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Corneal scarring, Apnea, Talipes equinovarus, Bradycardia, Retinal hemorrhage, Ta...	OMIM:614653
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, High anterior hairline, Recurrent urinary tract infections, Mitral regurgitati...	OMIM:615873
Noonan Syndrome With Multiple Lentigines	Multiple lentigines, Hypertrophic cardiomyopathy, Melanocytic nevus, Bundle branch block, Arrhyth...	ORPHA:500
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Degcags Syndrome	Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Genu valgum, Hyperbil...	OMIM:619488
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m...	OMIM:617072
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmati...	ORPHA:96121
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Tremor, Lymphadenopathy, Myocarditis	ORPHA:83317
Familial Tumoral Calcinosis	Nephrocalcinosis, Hypopigmented skin patches, Hyperostosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Poems Syndrome	Visceromegaly, Polycythemia, Hypertrichosis, Ascites, Sclerosis of hand bone, Leukonychia, Sclero...	ORPHA:2905
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Wilson Disease	Osteomalacia, Acute hepatic failure, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevated circul...	OMIM:277900
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis, Tachypnea	OMIM:245050
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Fair hair, Enlarged platelet dense granules, Ocular albinism, ...	OMIM:608233
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Cardiomy...	ORPHA:289157
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Widely spaced toes, Short toe, Umbilical hernia, Tricuspid regurgitation...	ORPHA:404443
Wagro Syndrome	Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Hypertension, Agitation	OMIM:612469
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Blue irides, Red hair, Advanced ossification of carpal bones, Hypospadias	OMIM:614613
Joubert Syndrome	Episodic tachypnea, Apnea, Hand polydactyly, Gait disturbance, Ataxia, Foot polydactyly, Abnormal...	ORPHA:475
Adams-Oliver Syndrome 5	Dystrophic toenail, Hypersplenism, Absent toenail, Splenomegaly, Hypoplastic toenails, Portal vei...	OMIM:616028
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Failure to thrive, Hyperaldoster...	OMIM:613090
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,...	OMIM:610199
Hurler-Scheie Syndrome	Aortic regurgitation, Heparan sulfate excretion in urine, Splenomegaly, Mitral regurgitation, Hir...	OMIM:607015
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Respiratory distr...	ORPHA:2299
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Hypokalemia, Chronic metabolic acidosis, Hyperchloremic metabolic ...	ORPHA:18
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Unconjugated hyperbilirubinemia, Abnormal...	ORPHA:232
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Cerebral vasculitis, Recurrent urinary tract infections, Elevated urinar...	OMIM:613179
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic steatosis, Rhabdomyolysis, Metabolic ...	OMIM:124000
Orofaciodigital Syndrome Type 6	Failure to thrive, Finger clinodactyly, Preaxial polydactyly, Episodic tachypnea, Apnea, Hand pol...	ORPHA:2754
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,...	OMIM:618278
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Hypertrophic ...	OMIM:617506
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Memory impairment, Epistaxis, Leukemi...	ORPHA:33226
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, D...	OMIM:607625
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase...	OMIM:617049
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-...	ORPHA:99104
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, L...	OMIM:608643
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Myopathy, Telangiectasia, Polyphagia, Foot polydact...	ORPHA:1606
Renal Hypoplasia	Polydipsia, Hypertension, Small for gestational age	ORPHA:93101
Alström Syndrome	Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me...	ORPHA:64
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Fine hair, Oroticaciduria, Leukopenia, Stage 5 c...	OMIM:222700
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Low posterior hairline, Hepatomeg...	OMIM:611881
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep...	ORPHA:228308
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Reduced bone mineral density, Right bundle branch block, Intention tremor	OMIM:619322
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho...	OMIM:615512
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,...	ORPHA:163746
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt...	OMIM:203300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n...	ORPHA:226307
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype...	ORPHA:91351
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess...	ORPHA:251937
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mi...	OMIM:612541
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun...	OMIM:620565
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Hypermelanotic macule, Mediastinal lympha...	ORPHA:379
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Bronchiolitis Obliterans	Hypoxemia	ORPHA:1303
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation	OMIM:619576
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormality of th...	ORPHA:699
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Alopecia, Cardiomyopathy, Bundle branch block, Angina pe...	ORPHA:93672
Nephronophthisis 11	Hepatic fibrosis, Polydipsia	OMIM:613550
Neonatal Marfan Syndrome	Tricuspid regurgitation, Mitral regurgitation, Arachnodactyly, Long toe, Adducted thumb, Long fin...	ORPHA:284979
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Hypertrichosis, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spleno...	ORPHA:1655
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Joubert Syndrome 2	Ataxia, Postaxial foot polydactyly, Failure to thrive, Episodic tachypnea, Central apnea, Postaxi...	OMIM:608091
Pachydermoperiostosis	Gastrointestinal hemorrhage, Abnormal fingernail morphology, Abnormal cortical bone morphology, S...	ORPHA:2796
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen...	ORPHA:3322
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Hirsutism, Exaggerated s...	ORPHA:79255
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Abnormal toenail morpholo...	ORPHA:30
Pneumocystosis	Weight loss, Hypoxemia	ORPHA:723
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Porphyria, Acute Intermittent	Tachycardia, Hypertension, Hepatocellular carcinoma	OMIM:176000
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Glycosuria,...	OMIM:229600
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelofibrosis	OMIM:139090
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171300
Helix Syndrome	Hypokalemia, Hyperparathyroidism, Polydipsia, Hypermagnesemia	OMIM:617671
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Panbronchiolitis, Diffuse	Hypoxemia	OMIM:604809
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly...	ORPHA:268
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Right bundle branch block, Hypertrichosis	OMIM:618590
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Epiphyseal stippling of toe phalanges, Stippling of the epiphyses...	ORPHA:79345
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Imerslund-Gräsbeck Syndrome	Tachycardia, Weight loss, Failure to thrive	ORPHA:35858
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Xanthelasma, Lactic acidosis, Chronic pancreatitis, Hyperlipidem...	OMIM:232240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Cognitive impairment, Anemia, Reduced bone mineral density, A...	ORPHA:935
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Cognitive impairment, Exaggerated startle response	ORPHA:309246
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Q Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepato...	ORPHA:781
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Double Outlet Left Ventricle	Failure to thrive, Cyanosis, Abnormal right ventricular function, Tachypnea, Systolic heart murmur	ORPHA:3427
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Depression, Ascites, Acute hepatic failure, Leukocytos...	ORPHA:342
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Thyrotoxic Periodic Paralysis	Lower limb muscle weakness, Rhabdomyolysis, Weight loss, Transient hypophosphatemia, Ventricular ...	ORPHA:79102
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy...	ORPHA:309854
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Facial telangiectasia, Alope...	OMIM:602782
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
Leopard Syndrome 1	Unilateral renal agenesis, Third degree atrioventricular block, Multiple lentigines, Hypertrophic...	OMIM:151100
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Failure to thrive	OMIM:300770
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Dry hair, Hydroureter, Urinary retention, Elevated c...	ORPHA:90324
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Anemia, Pulmonary arterial hype...	ORPHA:77261
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutr...	OMIM:249100
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Suprav...	ORPHA:391665
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Hypoxemia	ORPHA:284227
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ...	OMIM:232300
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Prolonged QT...	ORPHA:36913
45,X/46,Xy Mixed Gonadal Dysgenesis	Decreased serum testosterone concentration, Obesity, Streak ovary, Short 4th metacarpal, Hypothyr...	ORPHA:1772
Teratoma, Pineal	Polydipsia	OMIM:273120
Gaucher Disease	Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Abnormal bone structure, Osteopenia, Cholelithi...	ORPHA:355
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin...	ORPHA:416
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality	OMIM:607485
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Card...	ORPHA:79430
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Vici Syndrome	Hypopigmentation of the skin, Dilated cardiomyopathy, Cardiomyopathy, Ocular albinism, Congestive...	OMIM:242840
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Ventricular tachycardia, Clu...	OMIM:605676
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve...	OMIM:620519
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Vasculitis, Elevated circulating hepatic transaminase concentration,...	OMIM:615688
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Nail dystrophy, Neutrophilia	OMIM:614204
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Elevated pulmonary ...	ORPHA:199241
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Bradycardia, Exaggerated startle response	OMIM:608800
Cardiac Diverticulum	Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Di...	ORPHA:1686
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat...	ORPHA:1880
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Mental deterioration, Fetal ascites, Depression, Hepatic fa...	ORPHA:646
Nephronophthisis 1	Polydipsia, Hypertension	OMIM:256100
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Short 5th metacarpal, Arrhythmia, Paroxysmal supraventricular tachycardia,...	OMIM:617877
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Self-injurious behavior, Broad-based gait, Fixated interests, Sandal gap, Umbil...	OMIM:620330
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Polydipsia	OMIM:266900
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Cranial hyperostosis, Splenomegaly, Nephroblastoma	OMIM:612918
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Sarcoidosis	Hepatic failure, Decreased liver function, Hypercalcemia, Portal hypertension, Hepatomegaly, Scar...	ORPHA:797
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Hypoxemia, Clubbing	OMIM:610910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel...	OMIM:102700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Aortic regurgitation, Cyanosis, Abnormal h...	ORPHA:3384
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Pulmonary arterial hypertension, Weight loss, Anorexia, Hepatomegaly, Hypoxemia, Cl...	OMIM:181000
Chromosome 22Q13 Duplication Syndrome	Polyphagia, Attention deficit hyperactivity disorder, Impulsivity	OMIM:615538
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Palpitations, Splenomegaly, Renal artery atherosclerosis, Angina pectoris, Arrhyt...	ORPHA:565612
Hepatoerythropoietic Porphyria	Osteopenia, Red-brown urine, Hypopigmentation of the skin, Facial hypertrichosis, Purple urine, E...	ORPHA:95159
Muenke Syndrome	Coronal craniosynostosis, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin pat...	ORPHA:53271
Kikuchi-Fujimoto Disease	Vasculitis, Alopecia, Elevated circulating hepatic transaminase concentration, Abnormal lymph nod...	ORPHA:50918
Tay-Sachs Disease	Dementia, Psychomotor deterioration, Exaggerated startle response	OMIM:272800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Plague	Hypotension, Respiratory distress, Splenomegaly, Arrhythmia, Hematemesis, Anorexia, Hepatomegaly,...	ORPHA:707
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Common Variable Immunodeficiency	Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of ...	ORPHA:1572
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Congenital Erythropoietic Porphyria	Osteopenia, Red-brown urine, Facial hypertrichosis, Hypopigmentation of the skin, Purple urine, L...	ORPHA:79277
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegal...	OMIM:617913
Renal Nutcracker Syndrome	Tachycardia, Syncope, Weight loss, Orthostatic hypotension	ORPHA:71273
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Short attention span, Tremor, Hypopigmentati...	ORPHA:98794
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Hydronephrosis, Abnormality of hair texture, Ureteral d...	ORPHA:96169
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Nephronophthisis 4	Polydipsia	OMIM:606966
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Brucellosis	Depression, Arteritis, Granuloma, Intrarenal abscess, Hypersplenism, Abnormality of the liver, Le...	ORPHA:1304
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Abnormality of the urinary system, Ureteral stenosis, Ocular albinism, Ane...	ORPHA:2719
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Tremor, Exaggerated startle response	OMIM:620327
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Legius Syndrome	Xanthelasma, Polydactyly, Paroxysmal atrial tachycardia, Multiple lipomas, Attention deficit hype...	ORPHA:137605
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Goodpasture Syndrome	Pulmonary hemorrhage, Cyanosis, Tachypnea, Weight loss, Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Ja...	OMIM:619991
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Tremor, Hepatomegaly, Anemia, Pulmonary arterial hypertension, Osteopetrosis, Lymph...	ORPHA:667
Tay-Sachs Disease	Memory impairment, Depression, Laryngeal dystonia, Short attention span, Tremor, Exaggerated star...	ORPHA:845
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Irritability	OMIM:617864
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu...	OMIM:306400
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented ...	OMIM:160980
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Irritability	OMIM:616881
Marfan Syndrome	Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Slender build, Inguinal ...	ORPHA:558
Interatrial Communication	Atrial flutter, Congestive heart failure, Palpitations, Cardiomegaly, Right axis deviation, Pulmo...	ORPHA:1478
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Dilated cardiomyopathy, Camptodactyly of finger, Congenital hypothyroidism, Obe...	OMIM:607872
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic sy...	ORPHA:29073
Hyperekplexia 3	Syncope, Exaggerated startle response	OMIM:614618
Gaucher Disease, Type Iiic	Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly	OMIM:231005
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean plate...	OMIM:153670
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Gm2-Gangliosidosis, Ab Variant	Dementia, Dystonia, Exaggerated startle response	OMIM:272750
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutroph...	OMIM:617099
Holt-Oram Syndrome	Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral regurgitation, Hypoplasia of delto...	OMIM:142900
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Elevated circulating aspartate aminot...	ORPHA:99829
Smooth Muscle Dysfunction Syndrome	Tachypnea, Pulmonary arterial hypertension, Hypertension	OMIM:613834
African Trypanosomiasis	Urinary incontinence, Alopecia, Second degree atrioventricular block, Third degree atrioventricul...	ORPHA:3385
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Menkes Disease	Gastrointestinal hemorrhage, Intracranial hemorrhage, Bladder diverticulum, Woolly hair, Prolonge...	ORPHA:565
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia, Overlapping toe, Umbilical hernia	OMIM:620475
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Aplasia of the sweat glands, Sparse hair, Sparse scalp hair	OMIM:612132
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Joubert Syndrome 5	Aggressive behavior, Central apnea, Episodic tachypnea, Ataxia	OMIM:610188
Brittle Cornea Syndrome	Osteoporosis, Pulmonic stenosis, Abnormality of hair pigmentation	ORPHA:90354
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cognitive impairment, Exaggerated startle response, Hirsutism	OMIM:617527
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Respiratory distress, Mitral regurgitation, C...	ORPHA:99125
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormality of the gallbladder, Ur...	ORPHA:818
Developmental And Epileptic Encephalopathy 49	Long eyelashes, Thick eyebrow, Exaggerated startle response	OMIM:617281
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Congestive heart failure, Supraventricular tachycardia, 2-3 toe s...	OMIM:181270
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response, Hirsutism	ORPHA:521426
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Glycine Encephalopathy With Normal Serum Glycine	Long eyelashes, Exaggerated startle response	OMIM:617301
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Irritability	OMIM:615574
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Umbilical hernia, Inguinal hernia, Premature ventricular contraction, Hyperten...	OMIM:620504
Marshall-Smith Syndrome	Slender finger, Short distal phalanx of finger, Prominent fingertip pads, Failure to thrive, Umbi...	OMIM:602535
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Pulmonary arterial hypertension, Hypoxemia	ORPHA:2282
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Attention deficit hyperactivity disorder, Hy...	ORPHA:177907
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Nephrocalcinosis, Tricuspid regurgitation, Micropenis, Right bundle branch ...	OMIM:617402
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response, Lacticaciduria	OMIM:620451
Cutis Laxa, Autosomal Recessive, Type Iid	Micropenis, Right bundle branch block, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:617403
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Pulmonic stenosis, Exaggerated startle response	OMIM:253800
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, High anterior hairline, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Exagg...	ORPHA:438213
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Hy...	OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Inability to walk, Tricuspid regurgitation, Mitra...	OMIM:620066
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Thick eyebrow, Exaggerated startle response, Irritability	OMIM:618367
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Arrhythmia, Congenital diaphragmatic hernia, Histiocytoid cardiom...	OMIM:309801

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 Hif1an

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Hif1an.

No publications found that use IMPC mice or data for Hif1an.

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MGI Allele	Allele Type	Produced
Hif1an^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Hif1an^{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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Gene: Hif1an MGI:2442345

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Hif1an mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data