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Gene: Clock MGI:99698

Gene Summary

Name:

clock circadian regulator

Synonyms:

KAT13D, bHLHe8, 5330400M04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating serum albumin level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	7.65×10^-19
abnormal skin morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased effector memory T-helper cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.26×10^-06
abnormal tooth morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased leukocyte cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	9.23×10^-07
decreased lung compliance	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.98×10^-06
increased CD4-positive, alpha-beta T cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.55×10^-08
decreased red blood cell distribution width	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.92×10^-05
enlarged thymus	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased lung elastance	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	7.16×10^-06
abnormal thymus morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.31×10^-05
decreased circulating total protein level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.80×10^-09
increased lymphocyte cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.85×10^-07
increased eosinophil cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.81×10^-08
increased T-helper cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	5.08×10^-09
decreased heart rate	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	7.88×10^-05
increased circulating HDL cholesterol level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	7.44×10^-05
increased circulating triglyceride level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	2.87×10^-05

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Human diseases caused by Clock 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 Clock (0 diseases)
Human diseases predicted to be associated with Clock (1094 diseases)

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

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

Disease	Matching phenotypes	Source
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me...	ORPHA:79084
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce...	OMIM:262600
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1	ORPHA:140941
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity, Short attention span	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short attention span	DECIPHER:19
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Abnormal paranasal sinus morphology, Lymphopenia	OMIM:207731
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl...	ORPHA:99886
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c...	OMIM:620651
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Abnormality of the gingiva	ORPHA:517
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Lymphade...	OMIM:267700
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Immunodeficiency 115 With Autoinflammation	Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp...	OMIM:620632
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev...	OMIM:228300
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Delayed Puberty, Self-Limited	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619613
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c...	ORPHA:552
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l...	OMIM:603554
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614837
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:603552
Dengue Fever	Gastrointestinal hemorrhage, Hypoproteinemia, Gingival bleeding, Hypotension, Thrombocytopenia, L...	ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Immunodeficiency 32B	Anemia, Monocytopenia, Eosinophilia, Sinusitis, Neutrophilia, Thrombocytopenia, Splenomegaly, Hyp...	OMIM:226990
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Long philtrum, Hypodontia, Oligodontia, Narrow mouth, Microdontia, Abnormally low T cell receptor...	OMIM:618092
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ...	OMIM:619802
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, In...	OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto...	OMIM:308240
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypoproteinemia, I...	OMIM:603553
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hypertension, Hyperlipidemia, Anemia	OMIM:603278
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Progressive psychom...	ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Recurrent sinusitis, Thrombocyto...	OMIM:613101
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Diffuse alveolar hem...	OMIM:616050
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly	OMIM:619175
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalb...	ORPHA:2070
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Leishmaniasis	Anemia, Lymphadenopathy, Abnormal oral cavity morphology, Pancytopenia, Abnormal macrophage morph...	ORPHA:507
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin...	OMIM:604367
Schizophrenia 15	Hyperactivity	OMIM:613950
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Delayed puberty, Broad-based gait, Decreased circulating follicle stimulating hormone concentrati...	OMIM:619761
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Aphthous ulcer, Carious teeth, Thrombocytopenia, Sple...	OMIM:620603
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Anemia, Iron deficiency anemia, Hypoproteinemia, Budd-Chiari syndrome, Hypoal...	OMIM:226300
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Recurrent sinusitis, Splenomegaly, Generalized lymphadenopath...	OMIM:620282
Primary Intestinal Lymphangiectasia	Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop...	ORPHA:90362
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Immunodeficiency 88	Eosinophilia	OMIM:619630
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:601859
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:108725
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Elevated circulating alanin...	OMIM:619048
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche...	OMIM:614662
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent...	OMIM:619290
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Diminished ability to concentrate, Cent...	OMIM:301033
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Anemia, Lymphadenopathy, Hypoproteinemia, Cardiomyopathy, Leukocytosis,...	OMIM:615895
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Abnormality of the dentition, H...	OMIM:613752
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,...	OMIM:262190
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Ataxia, Mental deterioration	OMIM:615924
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra...	ORPHA:158061
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol...	OMIM:610947
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus	OMIM:613877
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia	OMIM:222100
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin resistanc...	ORPHA:90301
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st...	OMIM:612526
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:604091
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased ci...	OMIM:300635
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Ketotic hypoglycemia, Reactive hypoglycemia, Agitation, Hyperinsulinemi...	ORPHA:324575
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Lymphadenopathy...	OMIM:603909
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall...	OMIM:615710
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate...	ORPHA:247585
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Polycystic...	ORPHA:79085
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Reduced systolic function	OMIM:618805
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Johanson-Blizzard Syndrome	Anemia, Delayed eruption of teeth, Oligodontia, Hypoproteinemia, Abnormality of the dentition, Mi...	ORPHA:2315
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, De...	OMIM:617237
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Oral ulcer...	ORPHA:486
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob...	OMIM:617021
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Epistaxis, Splenomegaly, Ne...	ORPHA:167
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa...	OMIM:615954
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate...	OMIM:616516
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia...	ORPHA:293964
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi...	OMIM:300908
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concen...	ORPHA:26793
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, High palate, Micrognathia, Cleft pala...	OMIM:235255
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hypotension, H...	ORPHA:292
Meningioma	Transient global amnesia, Impotence, Cognitive impairment, Decreased circulating cortisol level, ...	ORPHA:2495
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia	OMIM:202150
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hy...	ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Agitation, Hepatomegaly, Hypoglycemic seizures, Diffuse pancreatic isl...	ORPHA:276556
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Prolonged QT interval, Elevated circulating hepatic trans...	OMIM:613327
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated...	OMIM:212138
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia	OMIM:617182
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl...	ORPHA:276580
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ...	OMIM:616829
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c...	OMIM:246200
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H...	ORPHA:86816
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Hepatomegaly, Decreased circulating carnitine concentration, Bradycardia, Cardiac a...	OMIM:618235
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Elevated circulating C-reactive protein concentration, Hypoc...	ORPHA:247353
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co...	OMIM:619386
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precoc...	ORPHA:528
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Portal hypertension, Leukopenia, Splenom...	ORPHA:64743
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea...	OMIM:615980
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Macroglossia, Dental crowding	OMIM:618523
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, Impulsivity, Gait ataxia	OMIM:620448
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism, Lymphopenia	OMIM:617575
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, High palate, Microdontia, Downturned corne...	OMIM:618347
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Downturned corners of mouth, Hepatosplenomegaly, L...	ORPHA:353298
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi...	ORPHA:98870
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Downturned corners of mouth, Splenomegaly, Long ph...	OMIM:616651
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, High palate, Micrognathia, Hepatosple...	ORPHA:1655
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia	OMIM:306000
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ...	OMIM:616828
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Gaisböck Syndrome	Hypertriglyceridemia, Myocardial infarction, Increased red blood cell count, Elevated plasma cell...	ORPHA:90041
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con...	OMIM:618400
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev...	OMIM:615238
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia, Con...	ORPHA:67
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Obesity And Hypopigmentation	Hyperinsulinemia, Overgrowth, Polyphagia, Obesity, Hepatic steatosis	OMIM:620195
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy...	OMIM:615395
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Lymph node hypoplasia, Splenomegaly, Lympho...	OMIM:602450
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Thrombocytopenia, Long philtrum, Hypoalbuminemia, Elevated circulating creatinine concent...	OMIM:608104
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	ORPHA:540
Acute Peripheral Arterial Occlusion	Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,...	ORPHA:90064
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly	ORPHA:75234
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Dementia, Bradycardia, Depression, Cardiomyopathy, Gait disturbance, Arrhythmia, Dysphagia, Abnor...	OMIM:609286
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Hypertension, Myocardial infarction	ORPHA:54370
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat...	OMIM:618775
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,...	OMIM:615381
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Umbilical hernia, Pr...	ORPHA:95717
Avian Influenza	Congestive heart failure, Elevated circulating C-reactive protein concentration, Elevated circula...	ORPHA:454836
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Hypoproteinemia, Cryptorchidism	OMIM:608093
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Elevated circulating C-reactive protein ...	OMIM:617388
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Nephrotic Syndrome, Type 11	High palate, Micrognathia, Cleft palate, Smooth philtrum, Dilated cardiomyopathy, Hypoalbuminemia...	OMIM:616730
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Inability to walk, Abnormal circulating enzym...	ORPHA:70472
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu...	ORPHA:1667
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, High palate, Abnormality of the dentition, Pulmonic stenosis, Micrognathia, Recu...	OMIM:618282
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Splenomegaly, Insulin resistance, Polyc...	ORPHA:79083
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Bradycardia, Depression, Pitui...	ORPHA:90674
Gordon Holmes Syndrome	Dementia, Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Ataxia, Primary ...	OMIM:212840
Omenn Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia	ORPHA:39041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Immunodeficiency 7	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia	OMIM:615387
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh...	ORPHA:276608
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper...	OMIM:151660
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	ORPHA:435660
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Periodontitis, Atrophy of alveolar ridges, Oral ulcer, Lymphop...	ORPHA:2686
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98855
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P...	OMIM:616299
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens...	ORPHA:75565
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia	OMIM:177000
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Eleva...	OMIM:229070
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Syncope, Hy...	ORPHA:90065
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Congenital Disorder Of Glycosylation, Type Il	Wide mouth, Splenomegaly, Long philtrum, Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypoglycemia, Hyper...	OMIM:617872
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Hypophosphatemic rickets, Elevated circul...	ORPHA:263455
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabete...	OMIM:606069
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia	ORPHA:169160
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Coenzyme Q10 Deficiency, Primary, 7	Dysphagia, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic...	ORPHA:280365
Seckel Syndrome 10	Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulati...	OMIM:617253
Fibronectin Glomerulopathy	Hypoalbuminemia, Hypertension, Cerebral hemorrhage	ORPHA:84090
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98853
Narcolepsy 3	Narcolepsy	OMIM:609039
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Hyperlipidemia, Hypertension, Abnormal response to corticotropin releasing...	ORPHA:189427
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de...	OMIM:260370
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Anemia, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Leuko...	OMIM:617303
Peroxisomal Acyl-Coa Oxidase Deficiency	Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, V...	OMIM:264470
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Enanthema, Eosinophilia	ORPHA:139402
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Increased ...	ORPHA:79237
Wells Syndrome	Eosinophilia	ORPHA:901
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	OMIM:205400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Depression, Memory impairment, Hypertension, ...	ORPHA:77296
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,...	OMIM:167800
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase...	ORPHA:369
Pancreatic Agenesis 2	Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71526
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Anemia, Increased circulating NT...	ORPHA:85443
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun...	OMIM:608709
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98863
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Cardiomyopathy, Failure to thrive, Elevated circulating acylcarnitine conce...	ORPHA:26792
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance	OMIM:620639
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Memory impairment, Depression, Ataxia, Dementia, Narcolepsy	OMIM:604121
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hypertrophic cardiomyopathy, Obesity, Ataxia, Aggressive behavior	OMIM:620270
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Impaired g...	OMIM:212140
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Cog4-Cdg	Irritability, Cirrhosis, Elevated circulating hepatic transaminase concentration, Elevated circul...	ORPHA:263501
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Increased body weight, Motor ste...	OMIM:182290
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Abnormal circulating...	ORPHA:95716
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hyp...	ORPHA:79230
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity	OMIM:617113
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Loss of ...	ORPHA:2348
Glycogen Storage Disease Iv	Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Abnormal circulating creati...	OMIM:232500
Lcat Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased circul...	ORPHA:650
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, C...	ORPHA:69663
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Increased serum serotonin	ORPHA:85288
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Memory impairment, Polyphagia, Hypotension, Cognitive impairment, Obesity, Atte...	ORPHA:369873
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic trans...	ORPHA:264580
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Macroglossia	ORPHA:79320
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus	OMIM:609069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged QT interval, Elevated circulating hepa...	ORPHA:71212
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Joint contracture of the 5th finger, Truncal ataxia, Impaired glucose tolerance, Fai...	OMIM:614407
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo...	ORPHA:435651
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia	ORPHA:2089
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hyperuricemia,...	ORPHA:199299
Bacterial Toxic-Shock Syndrome	Myocarditis, Hypocalcemia, Capillary leak, Increased circulating myelocyte count, Elevated circul...	ORPHA:36234
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mea...	ORPHA:231226
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube...	OMIM:616222
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Tropical Pancreatitis	Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr...	ORPHA:103918
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Wilson Disease	Cirrhosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice,...	ORPHA:905
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Abnormality of...	OMIM:615952
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentra...	OMIM:611762
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Hereditary Folate Malabsorption	Cheilitis, Pancytopenia, Glossitis, Megaloblastic anemia, Thrombocytopenia, Eosinophilia	ORPHA:90045
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Bradyc...	ORPHA:226313
Distal Myopathy, Tateyama Type	Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Confusion, Hepatocellular carcino...	OMIM:603471
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto...	ORPHA:75564
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k...	OMIM:608189
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c...	OMIM:269700
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Polycystic ova...	ORPHA:79086
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Paroxysmal Extreme Pain Disorder	Mandibular pain, Tachycardia, Bradycardia	OMIM:167400
Necrotizing Enterocolitis	Shock, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Neutropenia	ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Hyp...	OMIM:614702
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm...	ORPHA:251623
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot...	ORPHA:465508
Sepsis In Premature Infants	Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Leukocytosis, Hypoten...	ORPHA:90051
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating polysaccharide concentration, Abnormal circul...	ORPHA:103910
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Classic Galactosemia	Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M...	ORPHA:79239
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Abnormal emotion, Jaundice, Increased circulating chylo...	ORPHA:444490
Narcolepsy 7	Narcolepsy, Obesity, Type II diabetes mellitus	OMIM:614250
Narcolepsy 1	Narcolepsy	OMIM:161400
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Hartnup Disorder	Attention deficit hyperactivity disorder, Episodic ataxia, Hyperactivity	OMIM:234500
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529799
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
Premature Ovarian Failure 15	Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E...	OMIM:618096
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Narrow mouth, Ankyloglossia, Carious teeth...	ORPHA:89842
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli...	ORPHA:567548
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Lymphadenopathy, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:617591
Neuroleptic Malignant Syndrome	Hyperkalemia, Pulmonary embolism, Hyperuricemia, Hypocalcemia, Bradycardia, Hypertension, Elevate...	ORPHA:94093
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Leptin Deficiency Or Dysfunction	Obesity, Decreased serum leptin, Polyphagia, Hypogonadism	OMIM:614962
Landau-Kleffner Syndrome	Steppage gait, Aggressive behavior, Memory impairment, Depression, Emotional lability, Hyperactiv...	ORPHA:98818
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy	ORPHA:79327
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin...	ORPHA:99885
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556037
Patent Ductus Venosus	Decreased liver function, Persistent patent ductus venosus, Hypergalactosemia, Hyperammonemia, Co...	OMIM:601466
Immunodeficiency 23	High palate, Vasculitis in the skin, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutro...	OMIM:615816
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Dilated cardi...	ORPHA:367
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Aortic regurgitation, Hyperactivity, Hyperlipidemia, Hypothyroidism, Precociou...	ORPHA:254346
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556030
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Postprandial hyperglycemia	ORPHA:681
Acitretin/Etretinate Embryopathy	Bradycardia, High palate, Hypoplasia of the thymus, Median cleft palate, Micrognathia, Aplasia/Hy...	ORPHA:40366
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Suba...	OMIM:243700
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Hereditary Chronic Pancreatitis	Diabetes mellitus, Jaundice, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Cystic Echinococcosis	Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnormality of the testis size, Ovarian cys...	ORPHA:400
Polyembryoma	Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy...	ORPHA:180229
Insulinoma	Hyperinsulinemia, Palpitations, Transient global amnesia, Neoplasm of the adrenal gland, Increase...	ORPHA:97279
Acute Generalized Exanthematous Pustulosis	Cheilitis, Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Anemia, Pulmonary arterial hypertension, Tricuspid regurgitation, Hyper...	ORPHA:505248
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Microdontia, Pulmonary arterial hypertension, A...	OMIM:601005
Marburg Hemorrhagic Fever	Bradycardia, Reticulocytosis, Hyperammonemia, Pericarditis, Leukopenia, Lymphopenia, Elevated cir...	ORPHA:99826
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Obesity, Failure to thrive in infancy, Mo...	OMIM:613670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Prima...	OMIM:614841
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia	OMIM:175700
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypotension, Increas...	ORPHA:91547
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperlipide...	ORPHA:293987
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L...	ORPHA:2457
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Reduced hepatic D-glycerate kinase activity, Nonke...	OMIM:220120
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior	OMIM:239500
Premature Ovarian Failure 1	Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation	OMIM:311360
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior	OMIM:301107
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Incr...	OMIM:601494
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Aspergillosis	Sinusitis, Eosinophilia, Intracranial hemorrhage, Neutropenia	ORPHA:1163
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,...	ORPHA:210548
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ...	OMIM:610600
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia	OMIM:215470
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Right ventricular failure, Secondary hyperaldoste...	ORPHA:90363
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket...	ORPHA:228305
Tetanus	Bradycardia, Hypertension, Elevated circulating creatine kinase concentration, Trismus, Tachycardia	ORPHA:3299
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Microvesicular hep...	OMIM:610198
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci...	ORPHA:101330
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Short Syndrome	Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes ...	OMIM:269880
Placental Insufficiency	Insulin resistance	ORPHA:439167
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Delayed eruption of teeth, Gingivitis, Abnormality of the dentition, Cleft palate, Eosinophilia	ORPHA:2314
Smith-Magenis Syndrome	Delayed puberty, Hypertriglyceridemia, Gait disturbance, Hypothyroidism, Failure to thrive in inf...	ORPHA:819
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Kawasaki Disease	Myocarditis, Congestive heart failure, Cheilitis, Elevated circulating C-reactive protein concent...	ORPHA:2331
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Angina ...	ORPHA:412
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Liver Disease, Severe Congenital	Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Pancre...	OMIM:619991
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc...	OMIM:610475
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil...	OMIM:615962
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen...	ORPHA:99901
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris	OMIM:614025
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Portal hypertension, Thrombocytopenia, Splenomegaly, Elevated circulating alp...	OMIM:251880
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi...	OMIM:201400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Broad-based gai...	ORPHA:3077
Glutamine Deficiency, Congenital	Thin vermilion border, Hyperammonemia, Bradycardia, Hypoglutaminemia	OMIM:610015
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Leukocytosis, Hy...	ORPHA:319213
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio...	OMIM:614921
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Cardiomyopathy, Eclabion, Abnormal granulocyte morphology, Abnormal circula...	ORPHA:98907
Cole Disease	Hyperglycemia	OMIM:615522
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Elevated circulating alkaline phosphatase concent...	OMIM:620454
Aicardi-Goutieres Syndrome 9	Anemia, Increased blood pressure, Hypertension, Portal hypertension, Pericarditis, Hepatosplenome...	OMIM:619487
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
X-Linked Sideroblastic Anemia	Glucose intolerance, Splenomegaly	ORPHA:75563
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Trunca...	ORPHA:369840
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Aortic regurgitation, Hypergalactosemia, Narrow mouth, Pulmonic ...	OMIM:222470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Abetalipoproteinemia	Congestive heart failure, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hypotrigl...	ORPHA:14
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hematochezia, Hypokalemia	OMIM:174900
Intellectual Developmental Disorder, Autosomal Dominant 67	Attention deficit hyperactivity disorder, Compulsive behaviors, Hyperactivity, Motor tics	OMIM:619927
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he...	ORPHA:275761
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,...	OMIM:615517
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Aggressive behavior, Hyperactivity, Impotence, Gait disturbanc...	ORPHA:43
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Vasculitis, Hypertension, Transient ischemic attack, Hyper...	ORPHA:183
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Abnormality of alkaline phosphatase level, Overfriendliness, Aggressive beh...	OMIM:618010
Graves Disease	Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le...	OMIM:275000
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas...	ORPHA:79240
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:274300
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Conical tooth, Delayed eruption of teeth, Oligodontia, Hypopla...	OMIM:308300
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Macrovesicular hepatic steatosis, Hepat...	OMIM:618234
Mpi-Cdg	Hypoalbuminemia, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:79319
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Bradycardia, Megaloblastic anemia, Cardiac arrest, H...	OMIM:277400
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Cardiomyopathy, Pericarditis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, ...	OMIM:212065
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu...	OMIM:615516
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio...	ORPHA:2959
Familial Cold Autoinflammatory Syndrome 1	Aphthous ulcer, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hypertension, Hyp...	OMIM:615812
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Increased circulating fer...	OMIM:618886
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Mental deterioration, Aggressive behavior	ORPHA:2382
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter, Cerebral v...	ORPHA:83601
Rett Syndrome	Agitation, Difficulty walking, Inability to walk, Increased serum pyruvate, Stereotypical hand wr...	ORPHA:778
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest...	ORPHA:633
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Anisocytosis, Micrognathia, Wide mouth	OMIM:604273
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Igg4-Related Pachymeningitis	Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Sinusitis, Eosin...	ORPHA:449427
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e...	OMIM:619632
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de...	OMIM:232400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact...	OMIM:619827
Methanol Poisoning	Confusion, Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy...	ORPHA:31825
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tole...	ORPHA:769
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Congestive heart failure, Anemia, Generalized lymphadenopathy, Supraventricul...	ORPHA:3260
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:203800
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Griscelli Syndrome Type 2	Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Alg12-Cdg	Short philtrum, B lymphocytopenia, Hyponatremia, Micrognathia, Thrombocytopenia, Hypoalbuminemia,...	ORPHA:79324
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Cholestasis, Portal hypertension, Hepatitis, Postprandial hyperglycemia	ORPHA:440713
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperglycemia	OMIM:615453
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotra...	OMIM:614582
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Cryptorchidism	OMIM:214150
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso...	ORPHA:1501
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Micrognathia, Hypomagnesemia, Hematochezia, Hyp...	OMIM:618183
Juvenile Polyposis Of Infancy	High, narrow palate, Gastrointestinal hemorrhage, Anemia, Melena, Narrow mouth, Hematochezia, Int...	ORPHA:79076
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem...	ORPHA:99827
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Pediatric-Onset Graves Disease	Polydipsia, Elevated circulating hepatic transaminase concentration, Hyperactivity, Hypertension,...	ORPHA:525731
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Gait ataxia, Dysphagia, Recurrent...	OMIM:606721
Sheehan Syndrome	Breast hypoplasia, Orthostatic hypotension, Reduced circulating prolactin concentration, Normochr...	ORPHA:91355
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity	ORPHA:329249
Congenital Myopathy 22A, Classic	Bradycardia, Dental crowding, High palate, Tricuspid regurgitation, Micrognathia, Open mouth, Mil...	OMIM:620351
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Illum Syndrome	Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia	OMIM:208155
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d...	ORPHA:45452
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv...	ORPHA:300536
Incontinentia Pigmenti	Orofacial cleft, Congestive heart failure, Delayed eruption of teeth, Abnormal dental enamel morp...	ORPHA:464
Phenylketonuria	Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Reduced phe...	OMIM:261600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Lymphopenia	OMIM:617425
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov...	OMIM:235510
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concen...	OMIM:619573
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Narcolepsy Type 1	Transient global amnesia, Depression, Syncope, Hypertension, Restless legs, Precocious puberty, O...	ORPHA:2073
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Oral mucosal blisters	ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con...	OMIM:242150
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Weight loss, Syncope	ORPHA:221098
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:348
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru...	ORPHA:99829
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Dilated cardiomyopath...	ORPHA:401923
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Depression, Reduced cystathioni...	OMIM:236200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Periodontitis, Oral ulcer, Chronic neut...	ORPHA:79259
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Difficulty walking, Elevated circulating hepatic ...	ORPHA:98908
Bangstad Syndrome	Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus	OMIM:210740
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ...	ORPHA:96184
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Beta-Ketothiolase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp...	OMIM:617093
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Difficulty walking, Elevated circulating hepatic transaminase concentration...	OMIM:610717
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
African Trypanosomiasis	Abnormality of the endocrine system, Abnormal growth hormone level, Pericarditis, Splenomegaly, S...	ORPHA:3385
Adiposis Dolorosa	Obesity	OMIM:103200
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Neonatal hypoglycemia, Abnormal circulating enzyme concentration or activity, Brady...	ORPHA:565624
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Abnormal cardiovascular system physiology, Gingival overgr...	ORPHA:168569
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	ORPHA:140905
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Smooth tongue, Enamel hypoplasia, Hypoalbuminemia, Oral mucosal blisters	ORPHA:79396
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo...	OMIM:618278
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp...	OMIM:176270
Perlman Syndrome	Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Hypogonadism	ORPHA:73272
Silver-Russell Syndrome	Precocious puberty, Decreased testicular size, Hyperhidrosis, Premature adrenarche, Recurrent hyp...	ORPHA:813
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Anemia, Spontaneous, recurrent epistaxis, ...	ORPHA:2929
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Port...	ORPHA:186
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia...	OMIM:614300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Gingival overgrowth, Narrow mouth, T lymphocytopeni...	ORPHA:508533
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Elevated circulating alkaline phosphatase concentration, Frontotemporal...	ORPHA:52430
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent...	OMIM:201475
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Foxp1 Syndrome	Short attention span, Pulmonary arterial hypertension, Hypothyroidism, Failure to thrive, Diabete...	ORPHA:391372
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Memory impairment, Depression, Ataxia, Narcolepsy, Mental deterioration	ORPHA:314404
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Cognitive impairm...	OMIM:615300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Increased adipose tissue around...	OMIM:248370
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity	OMIM:617119
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Congestive heart failure, Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemi...	ORPHA:746
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Depression, Increased body weight, Hypertension, Adrenal hyperplasia, Dorsoce...	OMIM:615830
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Hyperammonemia,...	OMIM:608836
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Furrowed tongue, Erythematous oral mucosa, Eosinophilia	OMIM:158310
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, Micronodular cirrhosis, ...	OMIM:256810
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Tularemia	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Oral ulcer, Leukocytosis, Thrombocytopenia,...	ORPHA:3392
Complete Androgen Insensitivity Syndrome	Delayed puberty, Male infertility, Abnormal circulating follicle-stimulating hormone concentratio...	ORPHA:99429
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Alveolar Echinococcosis	Liver abscess, Anemia, Abnormal spleen morphology, Budd-Chiari syndrome, Portal hypertension, Eos...	ORPHA:284
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Pulmonary arterial hypertension	ORPHA:1164
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Emotional lability, Pitui...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean...	ORPHA:232
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia	ORPHA:411515
Niemann-Pick Disease Type C	Cognitive impairment, Ataxia, Dysphagia, Splenomegaly, Aggressive behavior, Jaundice, Depression,...	ORPHA:646
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T...	ORPHA:90037
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu...	OMIM:300972
Juvenile Huntington Disease	Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Gait at...	ORPHA:248111
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	ORPHA:470
Schnitzler Syndrome	Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Cognitive impairment, Prolonged QRS comp...	ORPHA:273
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,...	OMIM:605911
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Furrowed tongue, Geographic ...	OMIM:614204
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Hype...	ORPHA:1830
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Reduced phosphoenolpyruvate carboxykinase activity in culture...	OMIM:261680
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior	ORPHA:382
Dend Syndrome	Hyperglycemia	ORPHA:79134
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Bradycardia	OMIM:614498
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Bradycardia	OMIM:617397
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Steatorrhea	OMIM:602579
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Bradycardia, Failure to thrive, Increased circulating free fatty acid l...	OMIM:610768
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce...	OMIM:277460
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent sinusitis, Thrombocytosis	OMIM:619281
Xfe Progeroid Syndrome	Enamel hypoplasia, Hypoalbuminemia, Hypertension, Premature loss of teeth	OMIM:610965
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Prolonged QT interval, Elevated circulating hepatic transaminase concentra...	ORPHA:66634
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperu...	ORPHA:20
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis, Hypogonadism	OMIM:615996
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Sarcoidosis	Enlarged lacrimal glands, Heart block, Anemia, Lymphadenopathy, Abnormal lymph node morphology, A...	ORPHA:797
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic steatosis, Heart block, Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine ...	ORPHA:228308
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Premature Ovarian Failure 11	Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Congenital Erythropoietic Porphyria	Erythrodontia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Ret...	ORPHA:79277
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia	ORPHA:98827
Dpm1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	ORPHA:79322
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology	OMIM:211400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec...	OMIM:616812
Proximal Spinal Muscular Atrophy	Difficulty walking, Inability to walk, Bradycardia, Elbow flexion contracture, Flexion contractur...	ORPHA:70
Wiskott-Aldrich Syndrome	Hematemesis, Sinusitis, Abnormal platelet morphology, Epistaxis, Hematochezia, Lymphopenia, Neutr...	ORPHA:906
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism, Hydrocele testis	ORPHA:567546
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity	ORPHA:589905
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Bile duct proliferation	OMIM:618329
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Type I...	ORPHA:91
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai...	OMIM:615363
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Failure to thrive, Inguinal hernia, Bradycardia	OMIM:619272
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Thromboc...	ORPHA:31150
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron def...	OMIM:301074
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Lymphadenopathy, Elevated circulating C-reactive protein c...	ORPHA:449395
Snakebite Envenomation	Tachycardia, Gingival bleeding, Cerebral ischemia, Hypotension, Hyponatremia, Cardiogenic shock, ...	ORPHA:449285
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyro...	OMIM:614450
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the sphenoid sinus, Abnormality of the anterior pituitar...	ORPHA:449563
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertensi...	ORPHA:1414
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Short...	ORPHA:449291
Whipple Disease	Hypothyroidism, Insulin resistance, Hepatomegaly, Splenomegaly	ORPHA:3452
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	ORPHA:156
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate product...	ORPHA:231222
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart failure, Cardiomyopathy, Hyp...	ORPHA:565612
Galloway-Mowat Syndrome 3	Hypertension, Narrow mouth, High palate, Micrognathia, Hypoalbuminemia	OMIM:617729
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis...	OMIM:612840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, EEG with focal spikes, Interi...	ORPHA:163681
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, M...	OMIM:235400
Leptospirosis	Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Arrhythmia, Thrombocytopenia, Sub...	ORPHA:509
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency 61	Obesity	OMIM:300310
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Anemia, Generalized lymphadenopathy, Eleva...	ORPHA:829
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Stereotypical hand wringing, Hypothyroidism, Skin-picking, Obesity, Motor stereoty...	OMIM:600430
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Hypoten...	ORPHA:79456
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran...	ORPHA:94086
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, EEG with spike-wave complexes, Inability to walk, Hyperactivity, Low ...	ORPHA:168491
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Patent ductus arteriosus, Abse...	OMIM:600001
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia	OMIM:227810
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,...	OMIM:231530
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C...	ORPHA:2137
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Insulin resistance, Diabetes mellitus, Cryptorchidism	OMIM:616541
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ...	OMIM:619418
Wolfram Syndrome 2	Diabetes insipidus, Depression, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus	OMIM:604928
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypoparathyroidism, Hypouricemia, Hype...	OMIM:277900
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ab...	ORPHA:17
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia, Elevated circulating creatinine concentration, Pulmonary ...	ORPHA:90060
Tafro Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr...	ORPHA:457077
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Delayed puberty, Abnormal circulating lipid concentration, Decreased HDL ch...	ORPHA:77293
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Lead Poisoning	Delayed puberty, Anorexia, Memory impairment, Depression, Decreased male libido, Infertility, Oli...	ORPHA:330015
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Acth-Independent Macronodular Adrenal Hyperplasia	Agitation, Decreased circulating ACTH concentration, Depression, Mental deterioration, Macronodul...	OMIM:219080
Nephronophthisis 15	Obesity	OMIM:614845
X-Linked Cerebral Adrenoleukodystrophy	Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Mental deterioration, Co...	ORPHA:139396
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ataxia, Dys...	ORPHA:699
Functioning Gonadotropic Adenoma	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:91348
Werner Syndrome	Thyroid carcinoma, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Abnormal testis morphology...	ORPHA:902
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h...	ORPHA:35858
Poikiloderma With Neutropenia	Retrognathia, Elevated circulating creatine kinase concentration, Carious teeth, Micrognathia, Re...	OMIM:604173
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Pancytopenia, Hypocalcemia, High palate, Portal hypertension, Unconjugated hyperbilirubin...	OMIM:613658
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty...	ORPHA:3191
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	OMIM:620141
Primary Myelofibrosis	Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Portal hyperte...	ORPHA:824
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Obesity, Mitral regurgitation, Overweight,...	OMIM:614651
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, P...	ORPHA:98850
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer...	OMIM:617442
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Micrognathia, Cleft palate, Thrombocytopenia, Hepatosplenomegaly, Malar fla...	OMIM:274000
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosis, Neutrophilia, L...	ORPHA:36238
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Hyperprolinemia, Hyperalaninemia	OMIM:615918
47,Xyy Syndrome	Male infertility, Increased serum testosterone level, Azoospermia, Hyperactivity, Oligozoospermia...	ORPHA:8
Temple Syndrome	Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T...	ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt...	ORPHA:3226
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ...	ORPHA:96182
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Congestive ...	OMIM:256040
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Depression, Gait disturbance, Motor stereo...	ORPHA:457240
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Lymph...	ORPHA:449432
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:617156
Infantile Neuroaxonal Dystrophy	Hyperactivity, Short attention span, Impulsivity, Temperature instability, Choking episodes, Gait...	ORPHA:35069
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal circulating pregnenolone concentration, Hypertension, Decreased circula...	ORPHA:95699
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Andersen-Tawil Syndrome	Prolonged QT interval, Polymorphic ventricular tachycardia, Prominent U wave, Dental crowding, Pr...	ORPHA:37553
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Biliary trac...	OMIM:209900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv...	OMIM:619475
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Vasculitis, Cerebral ischemia, Granuloma, Pericardi...	ORPHA:228123
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol...	ORPHA:71
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Slender build, ...	OMIM:617600
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Leprechaunism	Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ...	ORPHA:508
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Hypernatremia, Hypoalbuminemia	OMIM:615508
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Thyroid hypop...	OMIM:218700
Smith-Lemli-Opitz Syndrome	Broad alveolar ridges, Dental crowding, Hypertension, Hypertrophic cardiomyopathy, Elevated circu...	OMIM:270400
Pierson Syndrome	Hypoproteinemia, Hypertension, Retinal hemorrhage	OMIM:609049
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Kikuchi-Fujimoto Disease	Myocarditis, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abno...	ORPHA:50918
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:404454
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia, Ataxia, Motor stereotypy	ORPHA:2479
Isolated Anencephaly	Thymus hyperplasia, Cleft lip	ORPHA:563609
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Primary Sclerosing Cholangitis	Congestive heart failure, Palmar telangiectasia, Cholelithiasis, Spider hemangioma, Portal hypert...	ORPHA:171
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Premature loss of permanent teeth, Hypercholesterolemia, Decreased testicul...	OMIM:610644
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Hypertension, Pulmonary carcinoid tu...	ORPHA:363618
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Gingival overgrowth, Gingival bleeding, Leukoc...	ORPHA:520
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, E...	ORPHA:110
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, H...	ORPHA:445038
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Neonatal hypoglycemia, Bradycardia, ST segment elevation, Cardiomyopath...	OMIM:261740
Oslam Syndrome	Increased mean corpuscular volume, Carious teeth, Abnormality of neutrophils	ORPHA:2760
Peripartum Cardiomyopathy	Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul...	ORPHA:563
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Leukocytosis, Hypotension, Hypo...	ORPHA:31824
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular...	OMIM:611126
Neuhauser Syndrome	Primary hypothyroidism, Ataxia, Hypercholesterolemia, Dysphagia	OMIM:249310
Atypical Werner Syndrome	Lipoatrophy, Delayed puberty, Hypertriglyceridemia, Hypertension, Aortic valve stenosis, Hypogona...	ORPHA:79474
Microtriplication 11Q24.1	Obesity, Bruxism, Hyperlipidemia	ORPHA:289522
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short...	ORPHA:98794
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Premature ovarian insufficiency, Hyperactivity, Motor stereotypy, Aggressive behavior	ORPHA:391307
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Apparent Mineralocorticoid Excess	Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decr...	ORPHA:320
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Male hypogonadism, Emotional lability, Shuffling gait, Wrist flexion contracture, O...	OMIM:300055
Intellectual Developmental Disorder, X-Linked 107	Attention deficit hyperactivity disorder, Hyperactivity, Aggressive behavior	OMIM:301013
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Micrognathia, High palate, Wide mouth	OMIM:251300
Dihydropyrimidinase Deficiency	Hyperactivity, Elevated circulating aldolase concentration, Elevated circulating creatine kinase ...	OMIM:222748
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hyp...	OMIM:618641
Pyruvate Carboxylase Deficiency	Hyperammonemia, Ataxia, Anorexia, Tip-toe gait, Elevated plasma citrulline, Increased serum pyruv...	ORPHA:3008
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Lymphatic Filariasis	Lymphadenopathy, Lymphadenitis, Orchitis, Vaginal hydrocele, Hypereosinophilia, Hydrocele testis	ORPHA:2035
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimoto thyroidit...	ORPHA:358
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Periodontitis, Rectal abscess, Gingivitis,...	OMIM:116920
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv...	OMIM:616263
Xp21 Deletion Syndrome	Hypertriglyceridemia, Everted lower lip vermilion, Elevated circulating creatine kinase concentra...	ORPHA:261476
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Bradycardia, Testicular dysgenesis	OMIM:608800
Kenny-Caffey Syndrome, Type 1	Anemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Hypocalcemia, Carious teeth, Hyp...	OMIM:244460
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Sinusitis, Bone marrow hypo...	ORPHA:811
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, High, narrow palate, Hypoparathyroidism, Premature loss of teeth, Exaggerat...	ORPHA:369837
Scorpion Envenomation	Prominent U wave, Hypertension, Premature ventricular contraction, Increased circulating lactate ...	ORPHA:466677
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia	OMIM:620423
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short attention span, Elevated circulating growth hormone concentration, Decreased...	OMIM:608747
46,Xy Sex Reversal 1	Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo...	OMIM:400044
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Breast aplasia	ORPHA:90153
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Aspiration, Hypertension, High palate, Retinal hemorrhage, Open mouth, Tachycardia	OMIM:614653
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati...	ORPHA:216694
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Gait disturbance, Hypertrophic cardiomyopathy, Failure to...	ORPHA:436271
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Progressive language deterioration, Ataxia, Motor stereotypy, Attention deficit hy...	OMIM:610042
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, Short attention span, Obesity, Bradyphrenia, Dysphagia, Bun...	ORPHA:589821
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Thrombo...	OMIM:259710
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancytopenia, Ora...	OMIM:615688
Cushing Disease	Intra-oral hyperpigmentation, Hypertension, Lymphopenia, Leukocytosis, Capillary fragility, Adren...	ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Galloway-Mowat Syndrome 7	High palate, Micrognathia, Cleft palate, Smooth philtrum, Dilated cardiomyopathy, Cleft lip, Hype...	OMIM:618348
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Neonatal hypoglycemia, Ataxia, Flexion contracture, Choreoathetosis, He...	OMIM:616271
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Short philtrum, Hypodontia, Intra-oral hyperpigmentation, High palate, Narr...	OMIM:619127
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hypertension, Impaired glucose t...	OMIM:219090
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Jaundice, Bradycardia, Failure to thrive, Dysphagia	OMIM:617248
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar...	OMIM:620565
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas...	ORPHA:541423
Severe Generalized Junctional Epidermolysis Bullosa	Anemia, Bradycardia, Enamel hypoplasia, Abnormal oral mucosa morphology, Abnormal blood ion conce...	ORPHA:79404
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Hepatic steatosis, Increased circulating copper concentration, Cirr...	ORPHA:209919
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ...	ORPHA:85327
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Delayed eruption of teeth, Hypocalcemia, Cardiomyopathy, Leukocytosis, Ena...	ORPHA:289157
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Narrow palate, Tooth malposition, Periodontitis, Premature loss of teeth, H...	ORPHA:536532
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Sinus bradycardia, Mitral regurgitation, Aggressive behavior	OMIM:261990
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein ...	ORPHA:3243
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase activity in ...	OMIM:210200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Cognitive impairment, Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Premature loss of teeth, Budd-Chiari ...	OMIM:127550
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi...	OMIM:261750
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Insulin resistance	ORPHA:90154
Proteus-Like Syndrome	Mandibular prognathia, Open bite, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormali...	ORPHA:2969
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Aphthous ulcer, Pericarditis...	OMIM:249100
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ...	ORPHA:786
Angelman Syndrome Due To A Point Mutation	Gait imbalance, Tongue thrusting, Broad-based gait, Recurrent hand flapping, Obesity, Inappropria...	ORPHA:411511
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Hypertension, Impaired glucose tolerance, Adrenal hyperp...	ORPHA:99889
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, G...	ORPHA:729
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transamina...	ORPHA:93111
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Inability to walk, Cholelithiasis, Bradycardia, Bilat...	ORPHA:97297
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Inguina...	ORPHA:534
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Elevated circulati...	OMIM:231680
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit...	ORPHA:157
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Cognitive impairment, Increa...	ORPHA:398069
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ...	ORPHA:64744
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Type I diabete...	OMIM:618397
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le...	ORPHA:90796
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Decreased serum leptin, Hypertension, Sinus tachycardia, Right bundle branch block, ...	OMIM:614008
Sickle Cell Disease	Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Incre...	OMIM:603903
Glycogen Storage Disease Ib	Xanthelasma, Hyperuricemia, Oral ulcer, Hypertension, Hyperlipidemia, Splenomegaly, Pancreatic fi...	OMIM:232220
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Tricuspid regurgitati...	ORPHA:404443
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Progressive psychomotor deterioration, Abnormal dental enamel morphology, Hypert...	ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Truncal ataxia, Hypertrophic cardiomyopathy, Failure to t...	OMIM:220110
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Hypertension, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia, Mental deterioration	OMIM:616672
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase ...	OMIM:229600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Elevated circulating hepatic transaminase concentration, Inability to walk, H...	OMIM:615356
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Ataxia, Lipodystrophy, Hypogonadism	OMIM:619273
Biliary, Renal, Neurologic, And Skeletal Syndrome	Bidirectional shunt, Aortic regurgitation, Hyperbilirubinemia, Anterior pituitary hypoplasia, Car...	OMIM:619534
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99226
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:881
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Falls, Hypera...	ORPHA:209905
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Goiter, Hypokalemia, Palpitations	OMIM:188580
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Patent duct...	ORPHA:444077
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly, Ataxia	OMIM:275630
Urachal Cyst	Abscess, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:488
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatic steatosis, Hepatomegaly, Cardiomyopathy	OMIM:614922
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Encephalitis Lethargica	Mental deterioration, Bradycardia	ORPHA:83600
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism...	OMIM:619471
Argininemia	Anorexia, Spastic gait, Irritability, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase...	OMIM:207800
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Impulsivity, Gait disturbance, Failure to t...	ORPHA:500055
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Impaired glucose tolerance, Biliary ...	OMIM:137920
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc...	OMIM:118450
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Wagro Syndrome	Agitation, Emotional lability, Low frustration tolerance, Hypertension, Polyphagia, Compulsive be...	OMIM:612469
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Reduced glycerol kinase activity i...	OMIM:307030
Pseudohypoparathyroidism Type 1C	Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy...	ORPHA:79444
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Sotos Syndrome	Tall stature, Neonatal hypoglycemia, Increased body weight, Overgrowth, Prolonged neonatal jaundi...	OMIM:117550
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Joint contracture of the hand, Corneal scarring, Elevated circulating creatine ki...	OMIM:309000
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Abnormal circu...	ORPHA:99832
Ogden Syndrome	Irritability, Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Hyp...	OMIM:300855
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Pulmonic stenosis, Ataxia, Hepatic steatosis, Decreased respon...	ORPHA:3455
Aicardi-Goutieres Syndrome 7	Hematemesis, Irritability, Hepatomegaly, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, H...	OMIM:615846
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:616026
Anal Fistula	Leukocytosis	ORPHA:228113
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth, Recurrent cutaneous abscess formation, Eosinophilia, C...	OMIM:147060
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Inability to walk, Memory impairment, Emotional lability, Short attentio...	ORPHA:2822
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Abnormal ovarian physiology, Precocious pube...	ORPHA:90794
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232200
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre...	ORPHA:91347
Osteootohepatoenteric Syndrome	Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste...	OMIM:619377
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Congestive heart failure, Increased hepatic glycogen content, Depression, Truncal at...	OMIM:619259
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension, Irritability, Decreased response to growth hormone stimulati...	ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Truncal ataxia, Microvesicular hepatic steatosis, Hypertension, Hypertrophic car...	OMIM:220111
Aceruloplasminemia	Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology	ORPHA:48818
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperuricemia, Gingival bleeding, Hyperlipidemia, Joint hemorrhage, ...	ORPHA:35909
Mirizzi Syndrome	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholel...	ORPHA:521219
Glycogen Storage Disease Ic	Xanthelasma, Hyperuricemia, Stomatitis, Spider hemangioma, Hypertension, Hyperlipidemia, Pulmonar...	OMIM:232240
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Thin vermilion border, Delayed eruption of teeth, Hypodontia, Narrow mouth,...	OMIM:264090
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Anemia, Elevated circulating C-reactive protein concentration, Congenita...	OMIM:620376
1P36 Deletion Syndrome	Annular pancreas, Polyphagia, Gait disturbance, Hypothyroidism, Failure to thrive, Obesity, Campt...	ORPHA:1606
Fabry Disease	Abnormal circulating lipid concentration, Congestive heart failure, Thick lower lip vermilion, An...	ORPHA:324
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alkal...	OMIM:619525
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia	OMIM:619036
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dysdiadochokinesis, Short attention span, Impulsivity, Gait ataxia, Dysphagia, Dys...	OMIM:610217
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hematemesis, Anemia, Melena, Capillary leak, Hypertension, Leukocytosis, Hypotensio...	ORPHA:340
Caroli Syndrome	Hematemesis, Liver abscess, Melena, Hyperbilirubinemia, Leukocytosis, Portal hypertension, Leukop...	ORPHA:480520
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Thyroid hypoplasia, Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic ...	OMIM:619503
Arima Syndrome	Polydipsia, Cirrhosis, Hepatomegaly, Hypertension, Ataxia, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Elevated hemoglobin A1c, Type II diabete...	OMIM:210900
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Overgrowth, Small for gestational age	ORPHA:254534
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Persisten...	ORPHA:93325
Pyomyositis	Recurrent cutaneous abscess formation, Sudden cardiac death, Leukocytosis, Testicular teratoma	ORPHA:764
Legius Syndrome	Xanthelasma, Hyperactivity, Short attention span, Cognitive impairment, Pulmonic stenosis, Paroxy...	ORPHA:137605
Viss Syndrome	Retrognathia, High, narrow palate, Epidural hemorrhage, Cleft soft palate, High palate, Pulmonary...	OMIM:619472
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ...	ORPHA:54595
Pmm2-Cdg	Retrognathia, Angina pectoris, Mandibular prognathia, Reduced thyroxin-binding globulin, High pal...	ORPHA:79318
Dermatomyositis	Myocarditis, Abnormal eosinophil morphology, Vasculitis, Sinus tachycardia, Elevated circulating ...	ORPHA:221
Homozygous Familial Hypercholesterolemia	Abnormal left ventricular function, Angina pectoris, Increased LDL cholesterol concentration, Hyp...	ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Hypertension, Cognitive impairment, Obesity, Ata...	OMIM:614947
Hutchinson-Gilford Progeria Syndrome	Hypertension, Female hypogonadism, Aortic valve stenosis, Severe failure to thrive, Aortic regurg...	ORPHA:740
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Digeorge Syndrome	Inguinal hernia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr...	OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi...	OMIM:300868
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Scarring, Pulmonary insufficiency, Inguinal hernia, Bradycardia,...	OMIM:614437
Intellectual Developmental Disorder, Autosomal Dominant 68	Attention deficit hyperactivity disorder, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Pheochromocyto...	ORPHA:139411
Cogan Syndrome	Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis	ORPHA:1467
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Narrow mouth	OMIM:614748
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Reduced sepiap...	OMIM:612716
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnorma...	ORPHA:3464
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Do...	OMIM:619321
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th...	OMIM:614098
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:424
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma, Depression, Hypertension, Impulsivit...	ORPHA:805
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Hyperlipidemia, ...	OMIM:241080
Neurodegeneration With Brain Iron Accumulation 1	Obsessive-compulsive trait, Akinesia, Dementia, Hyperactivity, Gait disturbance, Phonic tics, Ata...	OMIM:234200
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Difficulty walking, Dysphagia	OMIM:619482
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:99819
Hellp Syndrome	Elevated circulating hepatic transaminase concentration, Increased body weight, Hypotension, Inte...	ORPHA:244242
Carney Complex	Congestive heart failure, Tall stature, Thyroid carcinoma, Increased circulating insulin-like gro...	ORPHA:1359
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adrenocortical carcinoma, Pseu...	ORPHA:116
Histidinemia	Hyperactivity	ORPHA:2157
Proteus Syndrome	Ovarian neoplasm, Testicular neoplasm, Abnormal dental enamel morphology, Enlarged polycystic ova...	ORPHA:744
Holt-Oram Syndrome	Cleft soft palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosis, L...	OMIM:142900

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 Clock

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 Clock.

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

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MGI Allele	Allele Type	Produced
Clock^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Clock^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Clock MGI:99698

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Clock mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data