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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
enlarged thymus	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased lymphocyte cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	2.54×10^-08
decreased effector memory T-helper cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.81×10^-06
decreased heart rate	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	2.94×10^-05
increased eosinophil cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.92×10^-07
decreased circulating total protein level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.69×10^-10
increased T-helper cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.37×10^-08
increased circulating triglyceride level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	3.14×10^-05
decreased spleen weight	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	2.08×10^-05
abnormal skin morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased leukocyte cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.09×10^-07
increased circulating HDL cholesterol level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	6.31×10^-05
decreased circulating serum albumin level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	7.39×10^-20
decreased red blood cell distribution width	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	1.72×10^-05
increased circulating alkaline phosphatase level	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	2.90×10^-05
abnormal tooth morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta T cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.23×10^-08
decreased CD8-positive, naive alpha-beta T cell number	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	6.02×10^-05
abnormal thymus morphology	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lung compliance	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	4.81×10^-06
increased lung elastance	Clock^{em1(IMPC)Ccpcz}	HOM	Early adult	6.76×10^-06

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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 (1106 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	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia	ORPHA:517
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty	ORPHA:140941
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen...	OMIM:616030
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 43	Lung abscess, Bronchiectasis, Hypoalbuminemia, B lymphocytopenia, Decreased circulating beta-2-mi...	OMIM:241600
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre...	ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Thin upper lip vermilion, Eosinophilia, Narrow mouth, Asthma, Oligodontia, Hypodontia, Abnormally...	OMIM:618092
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci...	OMIM:614897
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Cerebral ischemia	ORPHA:26137
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Re...	OMIM:620282
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Polyphagia, Obesity, Hyperinsulinemia, Hypertensi...	ORPHA:71529
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:2070
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Anemia	OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati...	OMIM:603553
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangie...	ORPHA:90362
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ...	OMIM:226300
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Restrictive ventilatory defect, Hypo...	OMIM:619013
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh...	ORPHA:2902
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Decreased circulating...	OMIM:619761
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol...	OMIM:604367
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Congestive heart failure, Leuko...	OMIM:615895
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Schizophrenia 15	Hyperactivity	OMIM:613950
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	OMIM:308750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	OMIM:308700
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level	OMIM:202150
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conges...	OMIM:619048
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Avian Influenza	Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c...	ORPHA:454836
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Abnormality of the dentition, Cardiomyopathy, H...	OMIM:613752
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminem...	OMIM:618805
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc...	ORPHA:169154
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Pneumonia, Eosinophilia, Premature loss of teeth, Oral u...	ORPHA:486
Ménétrier Disease	Gastrointestinal hemorrhage, Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Mental deterioration	OMIM:615924
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In...	OMIM:610947
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis	OMIM:613877
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Prolonged QT interval, Tachycardia, Hepatomegaly, Pneumonia, Episodic tachy...	ORPHA:26793
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Respiratory insufficiency, ...	OMIM:617021
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia...	ORPHA:292
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo...	OMIM:615842
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pan...	OMIM:235255
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Abnormality of the pancreas, Oligodontia...	ORPHA:2315
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Hypogl...	ORPHA:324575
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Dyspnea...	ORPHA:75566
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Dyspnea, Congestive heart failure, Leukocytosis, Pleural empyema, Hy...	ORPHA:67
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:79085
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi...	OMIM:615710
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Dyspnea, Splenomegaly, Hypovolemia,...	ORPHA:90041
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Thin upper lip vermilion, Eosinophilia, Splenomegaly,...	OMIM:616651
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Persistence of primary teeth, Recurrent pneumonia, High palate, Cutaneous abscess	OMIM:147060
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Mildly elevated creatine kinase, Bradycardia,...	OMIM:620265
Nephrotic Syndrome, Type 1	Hypoproteinemia, Neonatal respiratory distress, Hypoalbuminemia, Hyperlipidemia	OMIM:256300
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Memory impairment, Glucose intolerance, Attention deficit hyperactivit...	ORPHA:369873
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Eosinophilia, Dental crowding, Bronchiectasis	OMIM:618523
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Asthma, Bronchiectasis, Pneumonia	OMIM:617638
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachyp...	ORPHA:71275
Trimethylaminuria	Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Decreased proportion...	ORPHA:169160
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchie...	OMIM:243700
Roifman Syndrome	Noncompaction cardiomyopathy, Thin upper lip vermilion, Eosinophilia, Recurrent pneumonia, Lympha...	ORPHA:353298
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymp...	ORPHA:39041
Cln3 Disease	Ataxia, Aggressive behavior, Loss of ambulation, Depression, Increased circulating androgen conce...	ORPHA:228346
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Micrognathia, Cryptorchidism, Jaundice, Respiratory insufficiency, Hypoproteinemia	OMIM:608093
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Short attention span, Elevated circulating...	ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Portal hypertension,...	OMIM:278000
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Summitt Syndrome	Obesity	OMIM:272350
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	ORPHA:540
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De...	ORPHA:276575
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le...	ORPHA:247353
Drug Reaction With Eosinophilia And Systemic Symptoms	Cardiac arrest, Eosinophilia, Enanthema, Myocarditis, Dyspnea, Hepatitis, Lymphadenopathy, Inters...	ORPHA:139402
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Abnormal oral glucose to...	ORPHA:276580
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,...	ORPHA:98849
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl...	OMIM:246200
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev...	OMIM:613327
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit...	ORPHA:528
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Reni Syndrome	Cryptorchidism, Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,...	ORPHA:724
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Micrognathia, Abnormality of the dentition, Recurrent pneumonia, Sterile abscess, B...	OMIM:618282
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ...	ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Congestive heart failure, Thrombocytopenia, Recurrent pneumon...	OMIM:617303
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive protei...	ORPHA:90051
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr...	ORPHA:85443
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating c...	OMIM:212138
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia	OMIM:610163
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,...	OMIM:608104
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po...	OMIM:618204
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
Necrotizing Enterocolitis	Shock, Hyponatremia, Apnea, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thr...	ORPHA:391673
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance	OMIM:618400
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Wide mouth, H...	OMIM:618347
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive...	ORPHA:1344
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Aspergillosis	Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality o...	ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Decreased propor...	ORPHA:443811
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o...	ORPHA:400
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Depression, Cardiomyopathy, Dementia, Gait d...	OMIM:609286
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Bacterial Toxic-Shock Syndrome	Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Abscess, Elevated circulating cre...	ORPHA:36234
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy, Failure to ...	OMIM:618235
Diarrhea 13	Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardio...	ORPHA:367
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Hepatosplenomegaly, Hepatic cysts	OMIM:618999
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Ataxia, Progressive neurologic deteriorati...	ORPHA:70472
Wells Syndrome	Vasculitis, Eosinophilia	ORPHA:901
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res...	ORPHA:79083
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Ataxia, Primary amenorrhea, Secondary amenorrhea, Absence of puber...	OMIM:212840
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Narcolepsy 3	Narcolepsy	OMIM:609039
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98855
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis	ORPHA:436182
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Incre...	ORPHA:276608
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism...	ORPHA:90674
Igg4-Related Aortitis	Asthma, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin...	ORPHA:2298
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Pneumonia, Aplasi...	OMIM:102700
Nephrotic Syndrome, Type 11	Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Hypoalbuminemia, Hype...	OMIM:616730
Paroxysmal Extreme Pain Disorder	Tachycardia, Mandibular pain, Bradycardia, Rhinorrhea	OMIM:167400
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia...	OMIM:617591
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Ataxia, Narcolepsy, Depression, Dementia, Memory impairment	OMIM:604121
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98853
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom...	ORPHA:280365
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Progressive neurologic deterioration, L...	ORPHA:263455
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Hypoal...	ORPHA:79320
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutr...	ORPHA:293173
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi...	OMIM:617253
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:42
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Glucose intolerance, Hepatic steatosis, Depression, Increased circulating ...	ORPHA:189427
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo...	ORPHA:529808
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo...	ORPHA:529799
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98863
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f...	OMIM:616299
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypertrophic cardiomyopathy	OMIM:620270
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st...	ORPHA:2348
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Congenital Lethal Erythroderma	Hypoalbuminemia, Respiratory insufficiency	ORPHA:1954
Narcolepsy 1	Narcolepsy	OMIM:161400
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Abnormal circulating enzyme concentration or activity, S...	ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes...	ORPHA:71526
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Narcolepsy Type 1	Obesity	ORPHA:2073
Peeling Skin Syndrome 1	Asthma, Eosinophilia	OMIM:270300
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency 23	Hemolytic anemia, Allergic rhinitis, Abscess, Eosinophilia, Asthma, Bronchiectasis, High palate, ...	OMIM:615816
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Failure t...	ORPHA:26792
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Decreased circulatin...	ORPHA:199299
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax...	ORPHA:263501
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp...	ORPHA:79230
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go...	ORPHA:95716
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly	OMIM:269840
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Irritabilit...	OMIM:264470
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc...	ORPHA:369
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocyto...	ORPHA:505248
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac...	ORPHA:1302
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo...	ORPHA:264580
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Increased serum serotonin	ORPHA:85288
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage	ORPHA:84090
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Spleno...	ORPHA:37042
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:609069
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Lymphaden...	OMIM:618886
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Bradycardia, Joint contr...	OMIM:614407
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn...	ORPHA:567548
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Alg1-Cdg	Cardiomyopathy, Respiratory failure, Hypoalbuminemia	ORPHA:79327
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Elevated circulating C-reactive protein concentration, Asthma, Bronchiectasis, H...	OMIM:619632
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hepatic...	ORPHA:71212
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Myopathy, Myofibrillar, 1	Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr...	OMIM:601419
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia	ORPHA:90045
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine...	ORPHA:99826
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ...	ORPHA:3260
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Elevated circulating C-reactive protein concentration, Non...	ORPHA:319213
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia	OMIM:175700
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser...	ORPHA:465508
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:79086
Tetanus	Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Trismus, T...	ORPHA:3299
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera...	OMIM:603471
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat...	ORPHA:90363
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Eosinophilia, Abnormality of the dentition, Cleft palate, Gingivitis, ...	ORPHA:2314
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Micrognathia, High palate, Third degree atrioventricular block...	ORPHA:40366
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Dyspnea, Lymphade...	ORPHA:449427
Congenital Heart Block	First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure, Atriovent...	ORPHA:60041
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating gonadotr...	OMIM:614841
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Pneumonia, Thrombocytopenia, Leukocytosis, Abno...	ORPHA:3392
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus, Obesity	OMIM:614250
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Pneumonia, Ventricular tachycardia, Atrioventric...	OMIM:601005
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosple...	OMIM:619487
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction,...	ORPHA:183
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Carious teeth, Narrow mouth, D...	ORPHA:89842
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertroph...	OMIM:614702
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Hepatomegaly, Acanthocytosis, Congestiv...	ORPHA:14
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Respiratory insufficiency	OMIM:614654
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Respiratory failure, Apnea, Bradycardia	OMIM:616277
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine kinase con...	OMIM:185070
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal respiratory distress, Apnea, Hyperammonemia, Thin vermilion border, Br...	OMIM:610015
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Landau-Kleffner Syndrome	Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I...	ORPHA:98818
Cole Disease	Hyperglycemia	OMIM:615522
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Portal hypertension, Cholangitis, Hepatic cysts, Dyspnea, Abnormal m...	ORPHA:284
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ...	OMIM:222470
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Hyperpepsinogenemia I, Cardiomy...	OMIM:615745
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con...	ORPHA:36238
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ...	ORPHA:444490
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity,...	ORPHA:254346
Hereditary Chronic Pancreatitis	Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul...	ORPHA:103910
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardiomyopathy, Abnormal granulocyte ...	ORPHA:98907
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decr...	OMIM:601466
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency	OMIM:618042
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test...	ORPHA:79644
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R...	ORPHA:99885
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism...	OMIM:235510
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ...	ORPHA:71
Illum Syndrome	Calcinosis, Apnea, Whistling appearance, Pierre-Robin sequence, Bradycardia	OMIM:208155
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent...	OMIM:619381
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis	ORPHA:79319
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of...	ORPHA:171
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper...	OMIM:269880
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
D-Glyceric Aciduria	Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Tongue thrusting, Nonketotic hyperglyc...	OMIM:220120
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ...	ORPHA:819
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino...	OMIM:610198
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia	OMIM:215470
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Thin upper lip vermilion, Steatorrhea, Cardiomyopathy, Hypoalbuminemi...	OMIM:212065
Placental Insufficiency	Insulin resistance	ORPHA:439167
Pseudo-Torch Syndrome 2	Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency...	OMIM:617397
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepatocellular ad...	ORPHA:79259
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Angina pectoris, Acu...	ORPHA:412
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Netherton Syndrome	Asthma, Hypereosinophilia, Allergic rhinitis, Chronic rhinitis	OMIM:256500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d...	OMIM:201400
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Decreased serum insulin-like growth fac...	OMIM:614921
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Retin...	OMIM:308300
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol...	ORPHA:797
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Micrognathia, Wide mouth, Retrognathia	OMIM:604273
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma...	ORPHA:3077
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Cleft upper lip, Abnormal cardiovascular system physiolo...	ORPHA:168569
Alg12-Cdg	Hyponatremia, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Recurrent pneumonia, B lymp...	ORPHA:79324
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance	ORPHA:75563
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Familial Cold Autoinflammatory Syndrome 1	Aphthous ulcer, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Elevate...	ORPHA:330001
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Melena, ...	OMIM:158310
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ...	ORPHA:99901
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, ...	ORPHA:79456
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Muckle-Wells Syndrome	Leukocytosis, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration	OMIM:191900
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovole...	ORPHA:275761
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Bronchiectasis	OMIM:608957
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Recu...	OMIM:617718
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Dementia, Adrena...	ORPHA:43
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac...	ORPHA:2959
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Lymphangiectasis	OMIM:602579
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat...	OMIM:274300
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ...	ORPHA:509
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Dyspnea, Splen...	ORPHA:565612
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Dental crowding, Micrognathia, Respiratory insufficiency, High palate, B...	OMIM:620351
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista...	ORPHA:769
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Micrognathia, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hy...	ORPHA:508533
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro...	ORPHA:90673
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr...	ORPHA:99829
Glycogen Storage Disease Iii	Hepatomegaly, Thin upper lip vermilion, Elevated circulating creatine kinase concentration, Hyper...	OMIM:232400
Incontinentia Pigmenti	Delayed eruption of teeth, Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Abnorm...	ORPHA:464
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia	ORPHA:440713
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Adiposis Dolorosa	Obesity	OMIM:103200
Methanol Poisoning	Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria...	ORPHA:31825
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Macrovesicular hepatic steatosis...	OMIM:618329
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:91355
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hematochezia, Hypoalbuminemia, ...	OMIM:618183
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Hematochezia, Melena, Intest...	ORPHA:79076
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido...	OMIM:608800
Iga Pemphigus	Oral mucosal blisters, Eosinophilia, Cutaneous abscess	ORPHA:555905
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Pediatric-Onset Graves Disease	Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly, Hyperac...	ORPHA:525731
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Insulin resistance	OMIM:214150
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, As...	OMIM:612714
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi...	OMIM:619281
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Aggressiv...	OMIM:261600
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Immunodeficiency 92	Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory...	OMIM:619652
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Neoplasm of the pan...	ORPHA:2929
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Retr...	ORPHA:449563
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t...	OMIM:606721
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Portal hypertension, Tachypnea, Respiratory insufficiency, Cholestasis, Respiratory...	OMIM:613658
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab...	ORPHA:401923
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial...	ORPHA:3226
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Jaw claudication, Weight loss, Depression, Syncope, Bradycardia	ORPHA:221098
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter	OMIM:210740
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac...	ORPHA:298
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory...	ORPHA:449285
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Hypertriglyceridemia, Splenomegaly, Microvesic...	OMIM:619418
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Oral mucosal blisters, Hypoalbuminemia, Smooth tongue, Enamel hypoplasia, Anemia	ORPHA:79396
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
African Trypanosomiasis	Choreoathetosis, Delirium, Abnormal EKG, Hepatomegaly, Abnormality of the endocrine system, Narco...	ORPHA:3385
Complete Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ...	ORPHA:99429
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Congenital foot contractures, Tip-toe gait...	ORPHA:565624
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight	OMIM:620065
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Abscess, Eosinophilia, Abnormality of the spleen, ...	ORPHA:228123
Lymphatic Filariasis	Orchitis, Lymphadenitis, Wheezing, Abnormality of the lymphatic system, Hypereosinophilia, Vagina...	ORPHA:2035
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Microdontia, Congestive heart failure, Thrombocytopenia, Hyperlipidemi...	ORPHA:1830
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Herpes Simplex Virus Encephalitis	Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat...	ORPHA:1930
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Fron...	ORPHA:52430
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia...	ORPHA:906
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Insulin resistance, Hypoglycemia	ORPHA:73272
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, F...	OMIM:614204
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati...	ORPHA:348
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa...	ORPHA:563
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly...	OMIM:617099
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism	ORPHA:2849
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Agitation, Cholecystitis, Gait distu...	ORPHA:778
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:134
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment	ORPHA:314404
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
Silver-Russell Syndrome	Precocious puberty, Cryptorchidism, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Pr...	ORPHA:813
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Depression,...	OMIM:615830
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Bradycardia, Micrognathia	OMIM:614498
Chronic Visceral Acid Sphingomyelinase Deficiency	Respiratory failure requiring assisted ventilation, Decreased HDL cholesterol concentration, Hype...	ORPHA:77293
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Short attention span, Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive ...	ORPHA:391372
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog...	OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Depression, Disproportionate tall st...	OMIM:236200
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Cryptorchidism, Hyperkalemia, Intracranial hemorrhage, Leukopenia...	OMIM:617053
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Abnormality of the liver, Progressive gait ataxia, Low frus...	ORPHA:646
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnormal circulatin...	ORPHA:79277
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Dyspnea, Hyperlipidemia, Hydrocele testis, Hypertension, Hypoalbuminemia, Ple...	ORPHA:567546
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee flexion ...	OMIM:608836
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Depression, Weight loss, Irritability, Gait ataxia, Deme...	ORPHA:248111
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Decreased...	OMIM:300972
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea...	ORPHA:449395
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys...	ORPHA:273
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopeni...	ORPHA:83601
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior	ORPHA:382
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Micrognathia, Carious teeth, Splenomegaly, Re...	OMIM:604173
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden...	OMIM:201475
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris	ORPHA:140905
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, ...	OMIM:617156
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri...	OMIM:610768
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c...	ORPHA:264675
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular...	ORPHA:3282
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth, Mandibular osteomyeli...	ORPHA:53
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis, Obesity	OMIM:615996
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Dend Syndrome	Hyperglycemia	ORPHA:79134
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary ci...	ORPHA:186
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:79322
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Heart block, Elevated circulati...	ORPHA:228308
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo...	ORPHA:464453
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Ataxia, Microvesicular hepatic steatosis, R...	ORPHA:66634
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity	ORPHA:589905
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K...	ORPHA:70
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Oral ulcer, Iron deficie...	OMIM:301074
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri...	ORPHA:449432
Xfe Progeroid Syndrome	Hypertension, Premature loss of teeth, Hypoalbuminemia, Enamel hypoplasia	OMIM:610965
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,...	ORPHA:20
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea	ORPHA:90036
Colchicine Poisoning	Respiratory distress, Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovole...	ORPHA:31824
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Hypotension, Cough, Arrhythmia...	ORPHA:188
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory insufficienc...	ORPHA:79273
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abn...	ORPHA:449291
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia	OMIM:619272
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w...	OMIM:614450
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Apnea, Bradycardia	OMIM:619814
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Whipple Disease	Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism	ORPHA:3452
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, EEG with generalized polyspikes, Precocious puberty, Aggressive behavior, ...	ORPHA:163681
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Microretrognathia	ORPHA:89844
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Micrognathia, Pancreatic cysts, Leukocytosis, Cleft palate, Hepatosplenomegaly, Ane...	OMIM:274000
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Patent ductus arteriosus, Biliary atresia, Glycosuria, Hyp...	OMIM:600001
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin...	OMIM:600430
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Decre...	OMIM:231530
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Tran...	ORPHA:156
Galloway-Mowat Syndrome 3	Micrognathia, Hypertension, High palate, Hypoalbuminemia, Narrow mouth	OMIM:617729
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Fanconi-Bickel Syndrome	Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia	OMIM:227810
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:8
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Hypoxem...	OMIM:603903
Smith-Lemli-Opitz Syndrome	Microretrognathia, Hepatomegaly, Dental crowding, Micrognathia, Splenomegaly, Cryptorchidism, Mic...	OMIM:270400
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ...	OMIM:219080
Nephronophthisis 15	Obesity	OMIM:614845
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ...	ORPHA:17
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He...	ORPHA:699
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Intersti...	OMIM:127550
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Insulin resistance, Diabetes mellitus, Hypothyroidism	OMIM:616541
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Decreased circulating cortisol level, Very long chain fatty acid accumulati...	ORPHA:139396
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea...	ORPHA:79404
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Stridor, Macroglossia, Bradycardia, Ectopic thyroid, H...	OMIM:218700
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure...	OMIM:261740
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Hypoglycemia, Microvesicula...	OMIM:124000
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Abnormal circulating creatine kinase ...	ORPHA:369840
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Arrhythmia, Abnor...	ORPHA:3191
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Lead Poisoning	Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Oligozoospermia, Depressio...	ORPHA:330015
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Premature Ovarian Failure 13	Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen...	OMIM:617442
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Sinusitis, Aplastic anemia, Decreased response to growt...	ORPHA:811
Xp21 Deletion Syndrome	Apneic episodes in infancy, Everted lower lip vermilion, Elevated circulating creatine kinase con...	ORPHA:261476
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron...	ORPHA:90033
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Werner Syndrome	Insulin resistance, Ovarian neoplasm, Thyroid carcinoma, Type II diabetes mellitus, Hypogonadism,...	ORPHA:902
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Overweight, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hype...	OMIM:614651
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Neuhauser Syndrome	Hypercholesterolemia, Ataxia, Primary hypothyroidism, Dysphagia	OMIM:249310
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Flexion contracture of fi...	OMIM:256040
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Hyperactivity, Diabetes mellitus, Congenital hypothyroidism	OMIM:614613
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai...	ORPHA:35069
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Hig...	OMIM:614653
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,...	ORPHA:168491
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Insuli...	ORPHA:96182
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, Depress...	ORPHA:457240
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di...	OMIM:617600
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Leprechaunism	Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp...	ORPHA:508
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperactivity, Small for gestational ag...	OMIM:609152
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi...	OMIM:619475
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism, Ataxia	ORPHA:2479
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
3-Methylglutaconic Aciduria, Type Viii	Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest	OMIM:617248
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Intracran...	ORPHA:363618
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheez...	OMIM:620233
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Leukocytosis, Gingivitis, Rectal abscess, ...	OMIM:116920
Atypical Werner Syndrome	Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal circulating leptin concentra...	ORPHA:79474
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Leukocy...	OMIM:259720
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia, Hypocalcemia	OMIM:602361
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D...	ORPHA:404454
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Pierson Syndrome	Hypertension, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Abnormal repet...	ORPHA:391307
Graft Versus Host Disease	Tachycardia, Pneumonia, Trismus, Jaundice, Oral ulcer, Hepatosplenomegaly, Lymphadenopathy, Chron...	ORPHA:39812
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Choreoathetosis, Cardiomyopathy, Hepatic steatosis...	ORPHA:445038
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste...	OMIM:611126
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Male hypogonadism, Shuffling...	OMIM:300055
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hyperhidrosis, ...	ORPHA:358
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvarial osteosclero...	OMIM:244460
Galloway-Mowat Syndrome 1	Wide mouth, High palate, Hypoalbuminemia, Micrognathia	OMIM:251300
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thri...	ORPHA:320
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c, Micrognathi...	OMIM:619127
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Oral u...	OMIM:232220
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Cushing Disease	Adrenal hyperplasia, Paradoxical increased cortisol secretion on dexamethasone suppression test, ...	ORPHA:96253
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Micrognathia, Cryptorchidism, Leukocytosi...	ORPHA:99812
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated ...	ORPHA:369837
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu...	OMIM:608747
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con...	OMIM:616263
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ...	OMIM:608233
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Premature loss of permanen...	OMIM:610644
46,Xy Sex Reversal 1	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th...	OMIM:400044
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Breast aplasia	ORPHA:90153
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem...	ORPHA:466677
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Glycosuria, Diffuse hepatic ste...	ORPHA:436271
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Bundle branch block, Hyperactivity, Short attention span, First degree atrioventric...	ORPHA:589821
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Chylothorax, Thymus hyperplasia, Micrognathia	OMIM:619036
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Congestive heart failure, Flexion contracture, Choreoathetosis, Hepatic steatosis, Neonat...	OMIM:616271
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Wolfram Syndrome 2	Diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Depression	OMIM:604928
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Delayed puberty	ORPHA:90154
Galloway-Mowat Syndrome 7	Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Hypercholesterolemia,...	OMIM:618348
Urachal Cyst	Leukocytosis, Peritonitis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation	OMIM:261990
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pancreatoblastoma, Anorexia, Pituitary corticotropic ...	ORPHA:99889
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Long uvula, Micrognathia, Cryptorchidism, Tooth malposition, Narrow palate,...	ORPHA:536532
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Ray...	ORPHA:331235
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Shigellosis	Hyponatremia, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion conc...	ORPHA:810
Bohring-Opitz Syndrome	Inability to walk, Bilateral wrist flexion contracture, Congenital contracture, Bradycardia, Seve...	ORPHA:97297
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipid...	OMIM:232240
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated...	ORPHA:340
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ...	ORPHA:398069
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment	ORPHA:364
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second...	ORPHA:90796
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog...	OMIM:618397
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Glycosuria, Decreased liver functi...	OMIM:220110
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Short attention span, Hyperactivity, Hypoparathyroidism, Ataxia, Thyroid hemi...	ORPHA:209905
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deterioration, Obesity,...	ORPHA:251004
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine...	OMIM:615356
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Hepatic steatosis, Decreased liver function, Hepatomegaly	OMIM:614922
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,...	OMIM:229600
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroi...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroi...	ORPHA:99228
Monosomy X	Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroi...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroi...	ORPHA:881
Combined Oxidative Phosphorylation Deficiency 27	Mental deterioration, Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Encephalitis Lethargica	Bradycardia, Hyperventilation	ORPHA:83600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Patent ductus arteriosus, Hyperglycemia, Hypothyroidism, Decreased response to growth hormone sti...	ORPHA:444077
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis	OMIM:619471
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Decreased serum leptin, Flexion contracture, Right bundle branch block, Hypertension...	OMIM:614008
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C...	OMIM:118450
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis	ORPHA:977
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Confusion, Decreased response ...	ORPHA:79444
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Abnormal ovarian physiology, Prematu...	ORPHA:90794
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Pneumonia, Micrognathia, Cryptorchi...	OMIM:264090
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Obesity, Me...	ORPHA:2822
Wagro Syndrome	Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolerance, Compulsive beha...	OMIM:612469
Lowe Oculocerebrorenal Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:309000
Sotos Syndrome	Neonatal hypoglycemia, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowt...	OMIM:117550
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir...	ORPHA:48818
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ...	ORPHA:3455
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Goiter	OMIM:188580
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Tachypnea, Submucous cleft hard palate, Heart murmur, Cleft pala...	ORPHA:3426
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Pmm2-Cdg	Respiratory distress, Mandibular prognathia, Intracranial hemorrhage, Hypoalbuminemia, Hepatic fi...	ORPHA:79318
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Abnormal repetiti...	OMIM:300855
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Increased circulating ferritin concentration, Splenomegaly, Vasculitis...	OMIM:615846
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Irrit...	OMIM:207800
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Hep...	ORPHA:2388
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Ivic Syndrome	Leukocytosis, Arrhythmia, Thrombocytopenia	ORPHA:2307
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyop...	OMIM:619259
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Hyperte...	OMIM:219090
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac...	OMIM:137920
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, G...	ORPHA:35909
Viss Syndrome	Microretrognathia, Epidural hemorrhage, Broad uvula, Cleft soft palate, Micrognathia, Dyspnea, As...	OMIM:619472
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Ataxia, Hypoglycemia, Increased hepatocellular lipid ...	OMIM:220111
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Hypoalbuminemia, Narro...	OMIM:614748
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Hyper...	OMIM:232200
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys...	OMIM:610217
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Testicular teratoma	ORPHA:764
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Abnormal repetitive mannerisms, Dilated cardi...	ORPHA:1606
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Anorexia, Pancreatitis, Jaundice, Elevated circulatin...	ORPHA:521219
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Type II diabetes mellitus, Facial telangiecta...	OMIM:210900
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Arima Syndrome	Hepatomegaly, Ataxia, Hypertension, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis	OMIM:243910
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Cong...	ORPHA:93325
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Multilobulated spleen, Respiratory insufficiency, Pulmonic stenosis...	OMIM:601186
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract...	OMIM:619503
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Overgrowth, Small for gestational age, Large for gestational age	ORPHA:254534
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Microvesicular hepati...	OMIM:203700
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Myocardial infarction, Neoplasm of the a...	ORPHA:54595
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor...	ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Ataxia, Progressive neurologic deterioration, Un...	OMIM:614947
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o...	ORPHA:740
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Birth length greater than 97th percenti...	OMIM:300868
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Cholelithiasis, Parathyroid agenesis, Decreased circulating para...	OMIM:188400
Cogan Syndrome	Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia	ORPHA:1467
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Micrognathia, High palate, Bradycardia, Emphysema, Pulmonary insuff...	OMIM:614437
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Hepatitis, Cervica...	ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder	OMIM:619934
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Leukocytosis, Downturned corners of mouth, Hypoplasia of the ovary, Azotemia, ...	OMIM:619321
Nk-Cell Enteropathy	Hematochezia, Increased T cell count	ORPHA:263665
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ...	ORPHA:70591
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc...	ORPHA:805
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac...	ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Dementia, Gait disturbance, Dyspha...	OMIM:234200
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Dysphagia, Sinus bradycardia	OMIM:619482
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Sudden cardiac death, Pulmonary embolism, ...	ORPHA:744
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Lymphocytic interstitial pneu...	ORPHA:2968
Hellp Syndrome	Elevated hepatic transaminase, Cerebral hemorrhage, Increased body weight, Hypotension, Increased...	ORPHA:244242
Carney Complex	Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Dorsocervical fat pad, Follicula...	ORPHA:1359
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Histidinemia	Hyperactivity	ORPHA:2157
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Adrenocortic...	ORPHA:116

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 20.1 Data