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Gene: Kmt2b MGI:109565

Gene Summary

Name:

lysine (K)-specific methyltransferase 2B

Synonyms:

2610014H22Rik, Wbp7, Mll2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular hemoglobin	Kmt2b^{tm1.2(IMPC)Wtsi}	HET	Early adult	4.43×10^-10
decreased erythrocyte cell number	Kmt2b^{tm1.2(IMPC)Wtsi}	HET	Early adult	7.57×10^-05
abnormal coat/hair pigmentation	Kmt2b^{tm1.2(IMPC)Wtsi}	HET	Early adult	3.48×10^-05
increased circulating alkaline phosphatase level	Kmt2b^{tm1.2(IMPC)Wtsi}	HET	Early adult	4.66×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kmt2b 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 Kmt2b (3 diseases)
Human diseases predicted to be associated with Kmt2b (825 diseases)

The table below shows human diseases associated to Kmt2b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, Hepatic steatosis	OMIM:619934
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Dystonia 28, Childhood-Onset	Short stature	OMIM:617284

The table below shows human diseases predicted to be associated to Kmt2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Abnormal abdomen morphology	OMIM:600089
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi...	OMIM:612526
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Polyc...	ORPHA:280356
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia	OMIM:246650
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl...	ORPHA:436182
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a...	ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia	ORPHA:71529
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ...	ORPHA:293964
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Hyperinsulinism Due To Hnf1A Deficiency	Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypog...	ORPHA:324575
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276575
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio...	OMIM:614662
Lipedema	Edema	OMIM:614103
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu...	ORPHA:363400
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycysti...	ORPHA:528
Obesity Due To Prohormone Convertase I Deficiency	Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr...	ORPHA:71526
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, El...	OMIM:617872
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypoketotic...	ORPHA:276556
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Lipodystroph...	ORPHA:2348
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete...	ORPHA:99886
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Nephrosialidosis	Ascites, Pericardial effusion	OMIM:256150
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala...	ORPHA:79237
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc...	OMIM:619386
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles...	OMIM:607616
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci...	ORPHA:90301
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Increased LDL cholestero...	OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis	ORPHA:26792
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ...	OMIM:607624
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Abnormal hepatic glycogen storage, Eleva...	ORPHA:2088
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr...	OMIM:261750
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia...	OMIM:600649
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Dysbetalipoproteinemia	Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, H...	ORPHA:412
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Perlman Syndrome	Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe...	ORPHA:2849
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the...	ORPHA:280365
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function	OMIM:601466
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy...	ORPHA:1041
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De...	OMIM:608594
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hepatic failure, ...	OMIM:620454
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Flexion contracture	OMIM:618856
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism,...	ORPHA:79319
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:248370
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Familial Chylomicronemia Syndrome	Acute pancreatitis, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato...	OMIM:619013
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:269700
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Donohue Syndrome	Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine...	OMIM:616516
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Recurrent hypoglycemia, Decreased carnitine level ...	OMIM:212140
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, He...	OMIM:613327
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:201450
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi...	OMIM:616222
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P...	ORPHA:60041
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep...	OMIM:602579
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance	OMIM:620639
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele	OMIM:613885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati...	ORPHA:1414
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue	ORPHA:199276
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly...	OMIM:231530
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c...	OMIM:618805
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Laron Syndrome	Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Abnormality of the endocrine s...	ORPHA:633
Morgagni-Stewart-Morel Syndrome	Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit...	ORPHA:77296
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Tangier Disease	Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron...	ORPHA:189427
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Hepatitis, Fulminant Viral, Susceptibility To	Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:618549
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Hypoglycemia	ORPHA:35
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam...	OMIM:212138
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ...	ORPHA:263501
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Ddost-Cdg	Lipodystrophy, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Primar...	ORPHA:300536
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis	ORPHA:210548
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver functi...	OMIM:617093
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Hyperbilirubinemia,...	OMIM:615710
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient...	ORPHA:156
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis, Cryptorchidism,...	ORPHA:91
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Elevated circulating hepatic ...	ORPHA:75563
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Cantu Syndrome	Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao...	OMIM:239850
Congenital Macroglossia	Abnormal hepatic glycogen storage, Hypothyroidism	ORPHA:2430
Placental Insufficiency	Insulin resistance	ORPHA:439167
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr...	OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf...	OMIM:619418
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidis...	OMIM:617575
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia...	OMIM:614582
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Werner Syndrome	Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:277700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse...	OMIM:269880
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Splenomegaly, Lipodystrophy, Hypertrigly...	OMIM:617591
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism	ORPHA:96184
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Death in infancy, Atrial septal def...	OMIM:620070
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Acute h...	OMIM:615438
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Hypothyroid...	OMIM:616263
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me...	ORPHA:769
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa...	ORPHA:90674
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Joint contracture of the hand, Elbow flexion contracture, Cryptorchidism, Kne...	OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Foot joint contracture, Exocrine pancreatic insufficiency, Aplasia...	ORPHA:456312
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl...	ORPHA:465508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic gl...	ORPHA:79259
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis	ORPHA:90154
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul...	OMIM:615954
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hepat...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Il	Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect	OMIM:608776
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Monosomy 13Q34	Insulin resistance, Hypercalcemia, Hepatic steatosis	ORPHA:96168
H Syndrome	Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puber...	ORPHA:168569
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Glycogen Storage Disease Of Heart, Lethal Congenital	Anasarca, Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Periph...	OMIM:261740
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Decreased adipose tissue aroun...	OMIM:606721
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia	ORPHA:90065
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules	OMIM:614072
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Congenital Enterovirus Infection	Fetal ascites, Cardiomyopathy, Pleural effusion, Myocarditis, Polyhydramnios, Hydrops fetalis, Pe...	ORPHA:292
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis	OMIM:615996
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper...	ORPHA:508
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Short Syndrome	Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Diabetes m...	ORPHA:3163
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi...	OMIM:611126
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:93111
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis...	ORPHA:2959
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:603553
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Joubert Syndrome 15	Exencephaly	OMIM:614464
Hypocomplementemic Urticarial Vasculitis	Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion	ORPHA:36412
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Whipple Disease	Insulin resistance, Splenomegaly, Hyponatremia, Hypothyroidism, Hepatomegaly	ORPHA:3452
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Hypogonadism	ORPHA:73272
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema	ORPHA:90362
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Lymphangiectasia, Intestinal	Stillbirth, Edema, Pedal edema	OMIM:152800
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr...	ORPHA:363705
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia, Breast aplasia	ORPHA:90153
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia	ORPHA:79476
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Hydrocephalus, Edema	OMIM:617822
Abcd Syndrome	Albinism, White eyelashes, White eyebrow, Polycythemia	OMIM:600501
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co...	OMIM:616943
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Umbilical hernia, Pleural effusion, Nonimmune hydrops fetalis, Ventricular septal def...	OMIM:235510
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus...	OMIM:620519
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ...	ORPHA:86816
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Decreased cervical spine flex...	ORPHA:98855
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulat...	OMIM:227810
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232220
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Acute Interstitial Pneumonia	Pericardial effusion, Peripheral edema, Pleural effusion	ORPHA:79126
Gaisböck Syndrome	Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabe...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased...	OMIM:618329
Werner Syndrome	Insulin resistance, Chondrocalcinosis, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus...	ORPHA:902
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
19P13.12 Microdeletion Syndrome	Precocious puberty, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Hypothyroidism, Arthrogryp...	ORPHA:254346
X-Linked Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Decreased cervical spine flex...	ORPHA:98863
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hepatic steatosis, Inguinal hernia, Pancreatitis, Hyperhomocystinemia	OMIM:236200
Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Decreased cervical spine flex...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Decreased cervical spine flex...	ORPHA:98853
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic...	OMIM:260370
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s...	OMIM:618775
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellu...	ORPHA:681
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Bangstad Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:615453
Adrenomyodystrophy	Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema	ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:615595
Pediatric Systemic Lupus Erythematosus	Ascites, Pericardial effusion, Pleural effusion, Edema	ORPHA:93552
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hyperbilirubin...	OMIM:229600
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol...	OMIM:619127
Glycerol Kinase Deficiency	Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid...	OMIM:307030
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Elevated circulating hepatic transamina...	ORPHA:445038
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Elevated circulating thyroid-stimulating...	OMIM:256040
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepatic failure, Left ventricular hy...	ORPHA:746
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Cryptorchidism, Hy...	OMIM:616541
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly	OMIM:619273
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea...	OMIM:615935
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cirrhosis...	ORPHA:298
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, Abnormal circulating lipid c...	ORPHA:381
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary...	ORPHA:363618
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ...	OMIM:609069
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Methionine Malabsorption Syndrome	Positive ferric chloride test, Blue irides, White hair	OMIM:250900
Methanol Poisoning	Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hypoparathyroidism, Hepatomegaly, Hypoplastic spleen, Decrea...	ORPHA:699
Diarrhea 10, Protein-Losing Enteropathy Type	Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion	OMIM:618183
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi...	ORPHA:77293
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Reduced subcutaneous adipose tissue	OMIM:619322
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Bardet-Biedl Syndrome 1	Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the...	OMIM:209900
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Atypical Werner Syndrome	Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn...	ORPHA:79474
Smith-Magenis Syndrome	Precocious puberty, Hypothyroidism, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Aicardi-Goutieres Syndrome 9	Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pericardial effusion, Ede...	OMIM:619487
Prader-Willi Syndrome	Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone...	OMIM:176270
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ...	OMIM:167800
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Decreased testicular size, Cryptor...	OMIM:610198
Meckel Syndrome, Type 2	Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Gitelman Syndrome	Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Graves disease,...	ORPHA:358
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly	OMIM:611134
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ...	ORPHA:20
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Silver-Russell Syndrome	Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Hyperhidrosis	ORPHA:813
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir...	ORPHA:97283
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Increased muscle lipid content, Elevated circulating creatine kinas...	ORPHA:565612
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ...	ORPHA:1908
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Cryptorchidism, Ventral her...	ORPHA:536532
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu...	OMIM:210250
Poems Syndrome	Ascites, Pericardial effusion, Pleural effusion, Edema	ORPHA:2905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe...	ORPHA:26793
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis	OMIM:616271
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida	OMIM:207950
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Glycosuria, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly	ORPHA:134
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ...	OMIM:175700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur...	OMIM:124000
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Xp21 Deletion Syndrome	Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen...	ORPHA:261476
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Ascites	OMIM:603278
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Palmoplantar hyperhidrosis, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, D...	OMIM:232240
Wildervanck Syndrome	Meningocele	ORPHA:3456
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adre...	OMIM:261515
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale...	OMIM:619377
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Cole Disease	Hyperglycemia	OMIM:615522
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Ataxia-Telangiectasia	Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased...	OMIM:613658
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal...	ORPHA:77261
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Increas...	ORPHA:17
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Ascites, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619573
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, L...	ORPHA:99885
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Q Fever	Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi...	ORPHA:781
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:110
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Decreased liver function, Increased intramyocellular lipid droplets, Hepatomegaly, In...	OMIM:220110
Necrotizing Enterocolitis	Ascites, Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Peritonitis	ORPHA:391673
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia	ORPHA:31150
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia, White forelock, Nail dystro...	OMIM:613989
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Bloom Syndrome	Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism	OMIM:210900
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Cholelithiasis, Elevated circulating hepatic transaminase ...	ORPHA:273
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon...	ORPHA:96182
Alg9-Cdg	Rhizomelia, Abnormal heart morphology, Oligohydramnios, Ventricular septal defect, Atrial septal ...	ORPHA:79328
Aymé-Gripp Syndrome	Postnatal growth retardation, Hydrocephalus, Short stature, Pericardial effusion, Patent ductus a...	ORPHA:1272
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism	OMIM:249310
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr...	OMIM:619172
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Flexion contractur...	OMIM:617303
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Pericardial effusion, Hydrops fetalis	ORPHA:2136
Kaposiform Lymphangiomatosis	Pericardial effusion, Pleural effusion	ORPHA:464329
Lymphangioleiomyomatosis	Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium	ORPHA:538
Camptodactyly Syndrome, Guadalajara Type 1	Short stature, Intrauterine growth retardation, Spina bifida	ORPHA:1327
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow	ORPHA:98791
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Maturity-onset diabetes of the young, Gl...	OMIM:137920
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Elevat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Elevat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Elevat...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Elevat...	ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly	OMIM:618541
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate...	OMIM:615356
Myhre Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Birth length l...	OMIM:139210
Chédiak-Higashi Syndrome	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ...	ORPHA:167
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Small nail, Persistence of hemoglobin F, Panc...	OMIM:617052
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio...	OMIM:616843
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Aicardi-Goutieres Syndrome 7	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pericardial effusi...	OMIM:615846
Squalene Synthase Deficiency	Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E...	OMIM:618156
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion	ORPHA:73224
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620185
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia	OMIM:256300
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Bloom Syndrome	Insulin resistance, Diabetes mellitus, Adipose tissue loss	ORPHA:125
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Dend Syndrome	Hyperglycemia	ORPHA:79134
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Triploidy	Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele	ORPHA:3376
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ...	ORPHA:1393
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningocele	ORPHA:2311
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Increased circulating prolactin concentration, Cam...	ORPHA:3455
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia	ORPHA:369837
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Hyperglycemia, Absent gallbladder, Congenita...	OMIM:600001
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Hypernatremia	OMIM:620423
Diaphanospondylodysostosis	Inguinal hernia, Enlarged kidney, Abnormal liver lobulation	OMIM:608022
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala...	OMIM:619534
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Spina bifida	ORPHA:1120
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus	ORPHA:2437
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating...	ORPHA:534
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Hepa...	OMIM:618278
Fountain Syndrome	Short stature, Spina bifida occulta, Spina bifida	ORPHA:3219
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Syndromic Diarrhea	Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Hypoplasia of the thymus, Uncombab...	ORPHA:84064
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi...	ORPHA:293987
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Flexion contracture, Azotemia	OMIM:619321
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Joubert Syndrome 14	Hydrocephalus, Meningocele, Growth delay, Encephalocele	OMIM:614424
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase ...	ORPHA:79318
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Pelvis-Shoulder Dysplasia	Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ...	ORPHA:2839
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Increased intra...	ORPHA:79102
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Meningocele	ORPHA:2031
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo...	ORPHA:63259
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, White hair, Fine hair	ORPHA:935
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Hip contracture, Microvesicular hepatic steatosis, Knee flexion contra...	OMIM:300868
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty	ORPHA:91347
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular hepatic steatosis, L...	OMIM:220111
Ogden Syndrome	Umbilical hernia, Decreased testicular size, Hyperbilirubinemia, Inguinal hernia, Cryptorchidism,...	OMIM:300855
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Hepatic steatosis, Hypocalcemia, Spleno...	OMIM:188400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, Hepatic steatosis	OMIM:619934
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia	ORPHA:1830
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Polyhydramnios, Cardiomegaly, Pericardial effusion, Hydrops fet...	ORPHA:51608
Fliedner-Zweier Syndrome	Meningocele	OMIM:620511
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Precocious puberty, Cholestatic liver disease, Hypocholesterolemia, Hepatic stea...	OMIM:270400
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Camptodactyly ...	OMIM:309000
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Short stature, Meningocele, Patent ductus arteriosus	OMIM:130720
Wiedemann-Rautenstrauch Syndrome	Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Cryptorchidism, Hypoplasia of t...	OMIM:264090
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion	OMIM:181000
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol...	ORPHA:330015
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Camptodactyly of finger, Abnormal liver lobulation	ORPHA:99776
Scorpion Envenomation	Glycosuria, Hyperglycemia, Elevated circulating aspartate aminotransferase concentration, Hypokal...	ORPHA:466677
Crimean-Congo Hemorrhagic Fever	Ascites, Pericardial effusion, Myocarditis	ORPHA:99827
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Vici Syndrome	Hypopigmentation of the skin, Ocular albinism, Lymphopenia, Leukopenia, Decreased proportion of C...	OMIM:242840
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Sarcoidosis	Hepatic failure, Enlarged lacrimal glands, Decreased liver function, Parotitis, Portal hypertensi...	ORPHA:797
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Fetal ascites, Arthrogryposis multiplex congenita, Hypomagnesemia, Decreas...	OMIM:619503
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Pubertal developmental failure...	ORPHA:740
1P36 Deletion Syndrome	Annular pancreas, Camptodactyly of finger, Hypogonadism, Abnormality of the spleen, Abnormality o...	ORPHA:1606
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism	ORPHA:2719
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Lateral Meningocele Syndrome	Meningocele, Umbilical hernia	ORPHA:2789
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Hyperbiliru...	OMIM:619475
Trisomy 18	Growth delay, Intrauterine growth retardation, Spina bifida, Short stature, Holoprosencephaly, An...	ORPHA:3380
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Cardiomegaly, Pancreatitis	OMIM:620371
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,...	ORPHA:163746
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Men...	ORPHA:397715
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hydrocele testis, Hyperlipidemia, Ascites	ORPHA:567546
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Lathosterolosis	Intrauterine growth retardation, Meningocele	ORPHA:46059
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Pagod Syndrome	Short stature, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Meningocele	ORPHA:2879
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ...	ORPHA:2369
Focal Dermal Hypoplasia	Patent ductus arteriosus, Spina bifida, Umbilical hernia	ORPHA:2092
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Occipital meningocele	OMIM:616546
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ...	OMIM:256520
Vater/Vacterl Association	Occipital encephalocele, Postnatal growth retardation, Intrauterine growth retardation, Spina bif...	OMIM:192350
Hallermann-Streiff Syndrome	Spina bifida, Proportionate short stature	OMIM:234100
Fibular Hemimelia	Spina bifida	ORPHA:93323
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk...	OMIM:219800
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Alkaptonuria	Irregular hyperpigmentation, Methemoglobinemia, Abnormality of skin pigmentation, Hemolytic anemi...	ORPHA:56
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Fanconi Anemia	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Short stature, Gr...	ORPHA:84
Neurofibromatosis, Type I	Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus	OMIM:162200
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia, Left ventricular hypertrophy, Hypohidro...	ORPHA:324
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism	ORPHA:444077
Jacobsen Syndrome	Short stature, Intrauterine growth retardation, Growth delay, Spina bifida	ORPHA:2308
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Orofaciodigital Syndrome Vi	Short stature, Occipital meningocele	OMIM:277170
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Short stature, Me...	ORPHA:567
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele	OMIM:267750
Thrombocytopenia-Absent Radius Syndrome	Short stature, Patent ductus arteriosus, Spina bifida	OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida	ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Spina bifida	OMIM:619480
Aicardi Syndrome	Postnatal growth retardation, Spina bifida	OMIM:304050
Campomelic Dysplasia	Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ...	OMIM:114290
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Spina bifida, Short stature, Spina bifida occulta, Growth delay, Pa...	OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Postnatal growth retardation, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Postnatal growth retardation, Spina bifida	ORPHA:363958
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ...	ORPHA:818
Femoral-Facial Syndrome	Short stature, Patent ductus arteriosus, Encephalocele, Spina bifida	OMIM:134780
Cutis Laxa, Autosomal Recessive, Type Ib	Spina bifida, Neonatal death	OMIM:614437
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele	OMIM:610829
Otopalatodigital Syndrome, Type Ii	Umbilical hernia, Postnatal growth retardation, Spina bifida, Hydrocephalus, Stillbirth, Short st...	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Disproportionate short stature, Occipital meningocele	OMIM:276820
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Dystonia 28, Childhood-Onset	Short stature	OMIM:617284

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 Kmt2b

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 Kmt2b.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Kmt2b^{tm1.2(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kmt2b^{tm1(IMPC)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Kmt2b^{tm1.2(IMPC)Wtsi}	Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette)	Mice
Kmt2b^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	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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