Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ncor1 MGI:1349717

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear receptor co-repressor 1

Synonyms:

5730405M06Rik, Rxrip13, N-CoR, A230020K14Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ncor1 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 Ncor1 (0 diseases)
Human diseases predicted to be associated with Ncor1 (996 diseases)

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

The table below shows human diseases predicted to be associated to Ncor1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Thyroid Hormone Metabolism, Abnormal, 1	Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con...	OMIM:609698
Thyroid Hormone Metabolism, Abnormal, 3	Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre...	OMIM:620198
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di...	ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ...	ORPHA:163596
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration	OMIM:615999
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t...	ORPHA:71526
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Obesity Due To Sim1 Deficiency	Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive i...	ORPHA:369873
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia, Edema	OMIM:189800
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites,...	ORPHA:295
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly	OMIM:613561
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy, Hypothyroidism	OMIM:619647
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Huntington Disease	Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Depression, Irritabili...	ORPHA:399
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ...	ORPHA:3226
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropen...	OMIM:603552
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Ventricular...	OMIM:601005
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:300123
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Confusion, Increased circulating free fatty aci...	ORPHA:71212
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures...	ORPHA:276580
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Hydrocephalus, Jaundice, Lymphaden...	ORPHA:858
Frontotemporal Dementia	Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri...	OMIM:600274
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology	ORPHA:2398
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thromboc...	ORPHA:101028
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301033
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Congenital hypothyroidism	ORPHA:88643
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Wolfram-Like Syndrome	Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia...	ORPHA:411590
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri...	ORPHA:263297
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia	OMIM:617885
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:225250
Nephronophthisis	Anemia	ORPHA:655
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Leptin Receptor Deficiency	Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po...	OMIM:614963
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Fetal Iodine Syndrome	Hypothyroidism	ORPHA:1910
Autosomal Erythropoietic Protoporphyria	Edema, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration,...	OMIM:275100
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia...	ORPHA:3032
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy...	OMIM:614702
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Focal T2 hyperintense thalamic lesion	OMIM:619046
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:620211
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Hyperlysinemia, Type I	Anemia	OMIM:238700
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Tetralogy of Fallot, Abnormality of thyroid physiology	OMIM:615542
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Tempi Syndrome	Transudative pleural effusion, Facial erythema, Increased hematocrit, Ascites, Polycythemia	ORPHA:284227
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Dehydration	ORPHA:28
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia, Increased circulating androgen conce...	ORPHA:228346
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid...	OMIM:603373
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po...	OMIM:222100
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Dry skin	OMIM:619244
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity	OMIM:620195
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test, Small for ge...	ORPHA:3363
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Gne Myopathy	Cardiomyopathy, Hypothyroidism	ORPHA:602
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism	OMIM:275120
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Edema, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Hyperhidrosis, Dextrotransposition of the great a...	ORPHA:860
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Occipital encephalocele, Ventriculomegaly, Redundant neck skin, Su...	ORPHA:397715
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Polyhydramnios	OMIM:617296
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Hawkinsinuria	Failure to thrive, Hypothyroidism	ORPHA:2118
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Classic Mycosis Fungoides	Hepatomegaly, Edema, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymp...	ORPHA:2584
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Fa...	ORPHA:79319
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, A...	OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concentration, Hydroce...	OMIM:613154
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Atrioventricular block, Joint contracture of the 5th finger, Bradycardia, Acro...	OMIM:614407
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver fun...	ORPHA:90051
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Rosaï-Dorfman Disease	Erythema, Anemia, Lymphadenopathy	ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly	ORPHA:99931
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Maternal Uniparental Disomy Of Chromosome 9	Hamstring contractures, Failure to thrive, Congenital hypothyroidism	ORPHA:96183
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios	ORPHA:1046
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Periorbital edema, Splenomegaly, Ped...	ORPHA:33226
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis...	ORPHA:158029
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca...	ORPHA:330001
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:3386
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Bilateral cryptorchidism, Increased nuchal translucency, Lateral ventricle dilata...	ORPHA:544488
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Hyperhidrosis, Acrocyanosis, Failure to thrive, Hypothyr...	ORPHA:349
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional l...	ORPHA:179494
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre...	ORPHA:97279
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Dehydration, Leukopenia, Anemia	ORPHA:33355
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Pituitary hypothyroidism, Bradyca...	ORPHA:90674
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Lipodystrophy, Splenomegal...	OMIM:613327
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ...	OMIM:261740
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Prolonged neonatal jaundice	ORPHA:529808
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Prolonged neonatal jaundice	ORPHA:529799
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Overweight, Flexion contracture, Abnormal heart morphology, Pulmonary arterial...	ORPHA:391372
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema	OMIM:223350
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,...	ORPHA:465508
Kleine-Levin Hibernation Syndrome	Polyphagia, Confusion	OMIM:148840
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Joubert Syndrome 26	Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism	OMIM:616784
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension	ORPHA:70587
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ...	OMIM:212138
Cach Syndrome	T2 hypointense thalamus, Hepatosplenomegaly, Lateral ventricle dilatation, Intrauterine growth re...	ORPHA:135
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia, Edema	ORPHA:329971
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Allan-Herndon-Dudley Syndrome	Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism	OMIM:300523
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia	OMIM:618116
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hepatic steatosis, Elevated hepatic transaminase, Microcytic anemia, T ...	ORPHA:2959
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Hypochro...	ORPHA:48818
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Ascites, Anemia, Edema	OMIM:603278
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Dehydration, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytop...	OMIM:616738
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Erythema, Edema	OMIM:154800
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Jaundice, L...	ORPHA:20
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Hypothyroidism	OMIM:619189
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ...	OMIM:617021
Sheehan Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:91355
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:464738
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact...	OMIM:615547
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Hypopituitarism, Decreased response to growth hormone stimulation t...	ORPHA:91349
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Omenn Syndrome	Hepatomegaly, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Abnorma...	ORPHA:39041
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Cryptorchidism, Cholestasis, Anemia, Decreased liver function, Neonatal deat...	OMIM:608104
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Intrauterine growth retardation, Dilated third ventricle, Ventriculomegaly	OMIM:615574
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Pituitary Apoplexy	Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen...	ORPHA:95613
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Abnormal circulating renin, Increased c...	OMIM:614736
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Thyroid Hormone Resistance, Selective Pituitary	Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin...	OMIM:145650
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia	OMIM:615986
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ...	OMIM:609152
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Hypothyroidism, Dextrocardia, Goiter	OMIM:617577
Optic Atrophy 1	Pallor	OMIM:165500
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Alg8-Cdg	Elevated hepatic transaminase, Ventriculomegaly, Edema, Hydrops fetalis, Cutis laxa, Anemia, Intr...	ORPHA:79325
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion	OMIM:619057
Cinca Syndrome	Eosinophilia, Lymphedema, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:66628
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Potocki-Lupski Syndrome	Small for gestational age, Hypothyroidism, Atrial septal defect, Failure to thrive, Patent forame...	OMIM:610883
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Hypothyroidism	OMIM:618625
Congenital Enterovirus Infection	Ventriculomegaly, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effu...	ORPHA:292
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis	ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Oligohydramnios, Anemia, Cryptorchidism	OMIM:620135
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Hypothyroidism, Obesity, Subvalvular aortic stenosis	OMIM:600430
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Umbilical hernia, Hypothyroidism	ORPHA:2349
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Colpocephaly, Bone marrow hypocellularity,...	OMIM:609053
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Thyroid Dyshormonogenesis 1	Umbilical hernia, Hypothyroidism, Goiter	OMIM:274400
Fumarase Deficiency	Polyhydramnios, Intrahepatic cholestasis, Choroid plexus cyst, Ascites, Pallor, Hepatic failure, ...	OMIM:606812
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Decreased thalamic volume, H...	ORPHA:168577
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of...	ORPHA:1329
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi...	OMIM:614742
Athyreosis	Thyroid agenesis, Hypothyroidism	ORPHA:95713
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothy...	OMIM:617713
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Combined Oxidative Phosphorylation Deficiency 40	Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth retardat...	OMIM:618835
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter	OMIM:188580
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth retardat...	OMIM:618839
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	OMIM:241850
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula...	ORPHA:95715
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Hypothyroidism	OMIM:301058
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperp...	ORPHA:276608
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight	OMIM:618347
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Dermatitis Herpetiformis	Skin vesicle, Erythema, Edema, Microcytic anemia	ORPHA:1656
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Hyperbilirubinemia, Polyphagia	OMIM:609734
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia	OMIM:618398
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A...	ORPHA:40366
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Pericardial effusion, Prim...	ORPHA:2905
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en...	ORPHA:101330
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Aa Amyloidosis	Hepatomegaly, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothyroidism, Enla...	ORPHA:85445
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Hypertrophic cardiomyopathy, Hypo...	ORPHA:254913
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology, Ventriculomegaly	ORPHA:467166
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Focal T2 hyperintense thalamic lesion	ORPHA:254881
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect, Hypothyroidism	OMIM:620184
Lymphangiectasia, Intestinal	Stillbirth, Lymphopenia, Edema, Pedal edema	OMIM:152800
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity, Hepatosplenomegaly	ORPHA:309155
Nasu-Hakola Disease	Frontal lobe dementia, Irritability, Abnormal adipose tissue morphology, Disinhibition, Memory im...	ORPHA:2770
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit...	ORPHA:3260
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Aicardi Syndrome	Spina bifida, Choroid plexus cyst, Lateral ventricle dilatation, Hepatoblastoma, Dilated third ve...	OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Inguinal hernia, Hypothyroidism	OMIM:613970
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Bazex Syndrome	Scaling skin, Anemia, Edema	ORPHA:166113
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, Hypothyroidism	OMIM:619851
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e...	OMIM:618775
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Alstrom Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:203800
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Precocious puberty, Obesity, Mitral regurgitatio...	ORPHA:254346
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, ...	OMIM:304790
Ddost-Cdg	Failure to thrive, Lipodystrophy, Primary hypothyroidism	ORPHA:300536
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Abn...	ORPHA:1451
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia	OMIM:618838
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Predominantly lower limb lymphedema	ORPHA:314404
B4Galt1-Cdg	Splenomegaly, Hepatomegaly, Hypothyroidism, Small for gestational age	ORPHA:79332
Chromosome 22Q13 Duplication Syndrome	Short attention span, Impulsivity, Attention deficit hyperactivity disorder, Emotional lability, ...	OMIM:615538
Diamond-Blackfan Anemia	Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Hypothyroidism, Decreased body weight	OMIM:607906
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Anemia	ORPHA:3405
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Failure to thrive, Decreased response to growth hor...	ORPHA:363528
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia	OMIM:619272
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Thyroid Lymphoma	Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Hypothyroidism, Camptodactyly of finger, Delayed puberty	ORPHA:2994
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Hypothyroidism, Hepatosplenomegaly	OMIM:618999
Premature Ovarian Failure 10	Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,...	OMIM:612885
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th...	ORPHA:88
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	ORPHA:1226
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ventriculomegaly, Anemia, Excessive wrinkled skin, Bone marrow hyp...	ORPHA:3322
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Decreased body weight, Hypot...	ORPHA:391408
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:608594
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Iron deficiency anemia, Thrombocytosis, Ascites, Anemia, Generalized edema	OMIM:226300
Glutamine Deficiency, Congenital	Flexion contracture, Bradycardia, Camptodactyly	OMIM:610015
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Necrotizing Enterocolitis	Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension	ORPHA:391673
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:600901
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi...	ORPHA:77259
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Fusion of the left and right thalami, Dilated fourth ventricle, Dry skin	OMIM:619306
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h...	ORPHA:453533
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Adrenal hypoplasia, Hypothyroidism, Delayed puber...	ORPHA:95496
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l...	OMIM:607485
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow hypocellulari...	OMIM:227645
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect, Hypothyroidism	OMIM:619908
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:269700
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:227650
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Petechiae, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegal...	OMIM:608013
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Hypothyroidism, Failure to thrive in infancy	OMIM:618829
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr...	ORPHA:456312
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Lymphocytosi...	ORPHA:514
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Premature thelarche, Hypothyroidism, Ventricular tachycardia, Torsade de pointes,...	OMIM:616878
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, ...	ORPHA:540
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas...	OMIM:240300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypothyroidism, Hepatosplenomegaly	OMIM:619013
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion...	OMIM:612469
Methimazole Embryofetopathy	Abnormality of the thyroid gland, Ventricular septal defect, Hypothyroidism	ORPHA:1923
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal dental enamel morphology, Progressive psychomotor deterioration, Obesity,...	ORPHA:251004
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mell...	ORPHA:398069
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mitral regurgitation, Hypothyroidism, Hepatosplenomegaly	OMIM:619750
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Wolcott-Rallison Syndrome	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased bod...	ORPHA:1667
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Hypothyroidism, Delayed puberty	OMIM:616817
Orthostatic Hypotension 2	Anemia	OMIM:618182
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Anemia	ORPHA:2668
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt...	OMIM:259710
Cystinosis	Portal hypertension, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, F...	ORPHA:213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Splenomegaly, Camptodactyly, Typ...	OMIM:613385
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Steatorrhea, Failure to thr...	ORPHA:95427
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring...	OMIM:614653
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Anemia, Cholestatic l...	ORPHA:440713
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Hepatomegaly, Bradycardia, Cerebral hemorrhage	OMIM:617397
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Japanese Encephalitis	Neutrophilia, Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Cerebral edema...	ORPHA:79139
Pediatric-Onset Graves Disease	Hyperactivity, Irritability, Emotional lability, Polydipsia, Failure to thrive, Polyphagia	ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 14	Ventriculomegaly, Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Incr...	OMIM:614946
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Edema, Splenomegaly, Jaundice, Hepatos...	OMIM:603553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Splenomegaly, Vasculitis, Cardiomyopathy, Acrocyanosis, Hypothy...	OMIM:225750
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Ventricular sept...	ORPHA:209905
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy	OMIM:222300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Anemia, Neutropenia	OMIM:617056
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Ascites, Decreased proportion of CD3-positive T...	ORPHA:90362
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Splenomegaly, Elbow flexion contracture, Lacunar stroke,...	OMIM:618440
Oculoskeletodental Syndrome	Abnormal thalamus morphology	ORPHA:557003
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Cachexia, Myocard...	ORPHA:3452
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Oslam Syndrome	Anemia	OMIM:165660
Glutaric Aciduria Iii	Hypertension, Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Leukocytosis, Ascites, Anemia	ORPHA:2070
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Dehydration, Portal fibrosis, Hepat...	OMIM:619377
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ven...	ORPHA:254892
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Hypohidrosis	ORPHA:1563
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Lig4 Syndrome	Small for gestational age, Telangiectasia, Type II diabetes mellitus, Failure to thrive, Hypothyr...	OMIM:606593
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Abnormal thalamus morphology	ORPHA:404440
Leigh Syndrome	Abnormal thalamic MRI signal intensity, Neutropenia, Intrauterine growth retardation, Hepatic fai...	ORPHA:506
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Cryptorchidism, Hydrocephalus, Annular pancreas, Reticulocytopenia, ...	OMIM:227646
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Periorbital edema, Splenomegaly, Lymphadenopathy, An...	OMIM:617591
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Thyroiditis, Hepatosplenomegaly, Cellulitis, Type I diabetes mellit...	OMIM:606367
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Hydrocephalus, Lymphadenopathy, Pallor, Anemia	ORPHA:667
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Edema, Leukocytosis, Pleural empyema, Pallor, Pancreatitis, Thro...	ORPHA:544482
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus	OMIM:617542
Acetazolamide-Responsive Myotonia	Hypothyroidism	ORPHA:99736
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter	OMIM:615108
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septa...	ORPHA:769
Diamond-Blackfan Anemia 1	Macrocytic anemia, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Stiff Person Spectrum Disorder	Diabetes mellitus, Hypothyroidism, Hyperhidrosis	ORPHA:3198
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Bradycardia, Congenital fi...	OMIM:620351
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Slender build, Secundum atrial septal defect...	ORPHA:1600
Illum Syndrome	Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Splenomegaly, Leukocy...	OMIM:259720
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Polydipsia, Cyanosis, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia...	ORPHA:293987
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Adiposis Dolorosa	Telangiectasia of the skin, Xerostomia, Hypothyroidism, Obesity	ORPHA:36397
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism	OMIM:264300
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Vent...	ORPHA:370959
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreati...	OMIM:615952
D-Glyceric Aciduria	Failure to thrive, Bradycardia	OMIM:220120
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism	ORPHA:449291
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cyanosis, Cardiomegaly, Pericar...	ORPHA:555874
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Melas	Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Lipodystrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Failure to ...	OMIM:618922
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Internal hemorrhage, Hepa...	ORPHA:99827
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter	OMIM:615109
Pseudohypoparathyroidism Type 1C	Calcinosis, Confusion, Obesity, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypoca...	ORPHA:79444
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatic steatosis, Ventriculomegaly	ORPHA:348
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Failure to thrive in infancy, Portal hypertension, Thyroiditis, Hepatosplenomegaly, Camptodactyly...	ORPHA:228426
Intellectual Developmental Disorder, Autosomal Dominant 52	Overweight, Hypothyroidism, Small for gestational age	OMIM:617796
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi...	ORPHA:412057
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:614114
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia	OMIM:608068
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv...	ORPHA:98793
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Obesity, Hypothyroidism	ORPHA:412
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Cyanosis, Double o...	ORPHA:3426
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv...	ORPHA:177904
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv...	ORPHA:177901
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Inguinal hernia, Hypothyroidism	ORPHA:397590
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto...	ORPHA:892
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Sim1-Related Prader-Willi-Like Syndrome	Obesity, Abdominal obesity, Type II diabetes mellitus, Abnormal temper tantrums, Skin-picking, Fa...	ORPHA:398079
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal...	ORPHA:98754
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th...	OMIM:616113
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism	OMIM:256300
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology	ORPHA:435638
Angelman Syndrome	Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr...	ORPHA:72
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Hypothyroidism, Epistaxis	ORPHA:293939
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	ORPHA:70
Smith-Magenis Syndrome	Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty, Hypothyroidism	ORPHA:819
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Hypogonadotropic hypogonadism	ORPHA:752
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal thalamus morphology	ORPHA:300570
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion	ORPHA:79264
Lig4 Syndrome	Telangiectasia of the skin, Hepatomegaly, Hypothyroidism, Type II diabetes mellitus	ORPHA:99812
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Pleural empyema, Pleura...	ORPHA:67
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Allan-Herndon-Dudley Syndrome	Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Flexi...	ORPHA:59
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:324737
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia	ORPHA:2268
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Inappropriate antidiuretic ...	ORPHA:79330
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Abnormal subcut...	OMIM:212065
Subcorneal Pustular Dermatosis	Hyperthyroidism, Hypothyroidism	ORPHA:48377
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia, Congenital foot contractures	ORPHA:565624
Dravet Syndrome	Pallor	ORPHA:33069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Joint contracture, Failure to thrive, Hypothyroidism	OMIM:618005
Luscan-Lumish Syndrome	Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Hydatidiform Mole	Anemia	ORPHA:99927
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph...	ORPHA:160
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Hypothyroidism	OMIM:619147
Intellectual Developmental Disorder, Autosomal Dominant 1	Short attention span, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxi...	OMIM:156200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Diabetes mellitus, Hypothyroidism	ORPHA:98673
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Splenomegaly, Severe failure to thrive, Hypopituitarism,...	ORPHA:30391
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he...	ORPHA:2330
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypothyroidism	ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog...	OMIM:618397
Fanconi Anemia, Complementation Group R	Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter	OMIM:158350
4H Leukodystrophy	Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho...	ORPHA:289494
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Bilateral cryptorchidism, Dilated third ventricle, Dandy-Walker malform...	ORPHA:434179
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity, Ventriculomegaly, Hepatosplenomegaly	ORPHA:845
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Prader-Willi Syndrome	Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi...	OMIM:176270
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Umbilical hernia, Hypothyroidism	ORPHA:85321
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A...	ORPHA:284
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Thyroiditis, Type I diabetes mellitus, Failure to thrive, Hypothyroidism	OMIM:614700
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Dilated cardiomyopathy, Truncal obesity, Hypothyroidism	OMIM:616541
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Mosaic Trisomy 9	Spina bifida, Polyhydramnios, Asplenia, Cryptorchidism, Hydrops fetalis, Abnormal liver lobulatio...	ORPHA:99776
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal de...	ORPHA:84064
Acute Disseminated Encephalomyelitis	Viral hepatitis, Abnormal thalamic MRI signal intensity, Cerebral edema	ORPHA:83597
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hepat...	ORPHA:781
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Lujo Hemorrhagic Fever	Shock, Myocarditis, Hyperhidrosis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Pseudohypoparathyroidism Type 1A	Calcinosis, Confusion, Obesity, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypoca...	ORPHA:79443
Rhombencephalosynapsis	Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Bohring-Opitz Syndrome	Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu...	ORPHA:97297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Failure to thrive, Neonatal insulin-de...	ORPHA:2255
Jung Syndrome	Hypothyroidism	ORPHA:2321
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Hypothyroidism, Small for gestational age	ORPHA:1439
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Persistence of...	OMIM:260400
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Thrombocytopenia, Cryptorc...	OMIM:603467
Reni Syndrome	Hypogonadism, Hypothyroidism, Adrenal insufficiency	OMIM:617575
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Breast aplasia, Hypoplastic nipples, ...	OMIM:308300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Splenomegaly, Elevated circu...	OMIM:610199
Degcags Syndrome	Hepatomegaly, Pancytopenia, Ventriculomegaly, Polyhydramnios, Congenital hypoplastic anemia, Cryp...	OMIM:619488
Prolactinoma	Elevated circulating growth hormone concentration, Adrenocorticotropic hormone deficiency, Abnorm...	ORPHA:2965
Koolen-De Vries Syndrome	Bicuspid aortic valve, Abnormal cardiac septum morphology, Hypothyroidism, Abnormal dental enamel...	ORPHA:96169
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism, Hypercapnia	ORPHA:505395
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Dental enamel pits, Precocious puberty, Cardiac rhabdomyoma, Hypo...	OMIM:191100
Down Syndrome	Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity	ORPHA:870
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Delayed puberty, ...	OMIM:619234
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Hypothyroidism	ORPHA:445038
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hyperhidrosis, Hypertension, Bradycardia, Hypotension, Arrhythmi...	ORPHA:94093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Adnp Syndrome	Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Attention defic...	ORPHA:404448
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten...	ORPHA:58
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation	ORPHA:251028
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Bone marrow hypocel...	ORPHA:508542
Immunodeficiency 22	Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia	OMIM:615758
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Achilles tendon contracture, Delayed puberty, Failure to thrive,...	OMIM:616263
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox...	ORPHA:79102
X-Linked Acrogigantism	Increased body mass index, Fasting hyperinsulinemia, Abnormal oral glucose tolerance, Polyphagia	ORPHA:300373
Myopathy, Mitochondrial, And Ataxia	Pallor, Increased circulating prolactin concentration	OMIM:617675
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity	ORPHA:254930
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Spl...	ORPHA:37042
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Pericardial effusion, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect...	ORPHA:453499
Aicardi-Goutières Syndrome	Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Raynaud phenomenon, He...	ORPHA:51
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Congenital hypo...	ORPHA:2519
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia	OMIM:612301
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Microform Holoprosencephaly	Tetralogy of Fallot, Hypothyroidism, Panhypopituitarism, Maternal diabetes	ORPHA:280200
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Thyroid agenesis, Ectopic...	ORPHA:3047
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity	ORPHA:157846
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Increased T cell co...	ORPHA:797
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Distal arthrogryposis, Recurrent pancreati...	OMIM:618268
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Hypertension, Hypothyroidism	ORPHA:98808
Cenani-Lenz Syndrome	Hypothyroidism, Abnormal dental enamel morphology	ORPHA:3258
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Hydranencephaly	Thalamic edema, Intrauterine growth retardation, Dysgenesis of the thalamus, Ventriculomegaly, At...	ORPHA:2177
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ...	ORPHA:699
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Ventricular septal defect, Decreased response to growth hormone stimulation test...	ORPHA:488632
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypothyroidism, Abnormal dental enamel morphology, Hypohidrosis	ORPHA:1812
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	OMIM:101800
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy, Hypothyroidism	OMIM:603736
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Increased circulating go...	ORPHA:1772
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Hypothyroidism	OMIM:251900
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism	OMIM:601427
Tangier Disease	Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Dry skin, Thrombocytopenia	ORPHA:31150
Immunodeficiency 31C	Hepatomegaly, Diabetes mellitus, Splenomegaly, Weight loss, Delayed puberty, Hypothyroidism	OMIM:614162
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Spleno...	ORPHA:50918
Fragile X Tremor/Ataxia Syndrome	Hypothyroidism	OMIM:300623
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Galloway-Mowat Syndrome 10	Congenital hypothyroidism	OMIM:619609
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Seckel Syndrome 7	Central hypothyroidism	OMIM:614851
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Thromboc...	ORPHA:77261
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Irri...	OMIM:615873
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Small for gestational age, Congesti...	ORPHA:1830
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Failure to thrive, Hypothyroidism	ORPHA:14
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi...	ORPHA:1855
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Precocious puberty, Cardiac rhabdomyoma, Hypothyroidism, Shagreen...	OMIM:613254
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Cardiomegaly, Congestiv...	ORPHA:980
Thyroid Ectopia	Abnormality of the thyroid gland, Umbilical hernia, Hypothyroidism, Ectopic thyroid	ORPHA:95712
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cyanosis, Cardiomegal...	ORPHA:3427
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Hyperinsulinemia, Central hy...	ORPHA:508
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Weight loss, Hematoche...	OMIM:615846
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Inguinal hernia, Hyperthyroidism, Ventricular se...	ORPHA:567
Gangliocytoma	Dementia, Polyphagia	ORPHA:251937
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Tyrosinemia, Type I	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Ascites, Pancre...	OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular...	OMIM:300998
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus	ORPHA:83471
Lymphatic Malformation 6	Atrial septal defect, Splenomegaly, Hypothyroidism, Cellulitis	OMIM:616843
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Hypothyroidism	OMIM:618569
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Decreased response to growth ho...	ORPHA:268261
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia, Compensated hypothyroidism	ORPHA:480864
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic h...	ORPHA:116
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Epistaxis, Thyroiditis, Hypertension, Pulmonary venous hypertension, Delayed pubert...	ORPHA:79259
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism	ORPHA:2479
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Orchitis, Pancreatitis, Hypovolemia, Capillary leak, Subconjunc...	ORPHA:99826
Diaphanospondylodysostosis	Intrauterine growth retardation, Increased nuchal translucency, Abnormal liver lobulation, Oligoh...	OMIM:608022
Craniopharyngioma	Polyphagia, Type II diabetes mellitus, Obesity	ORPHA:54595
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Hypothyroidism, Decreased response to growth hormone stimulatio...	ORPHA:96179
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Pallor, Adrenal pheochromocytoma	ORPHA:276621
Nephronophthisis 4	Anemia	OMIM:606966
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Ventricular septal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Ventricular septal ...	ORPHA:363958
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h...	OMIM:619991
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Patent foramen ovale, Absence of subcutaneous fat, Atrial septal defect, Pul...	OMIM:620005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Emotional lability, Self-injurious be...	OMIM:620330
Tay-Sachs Disease	Pallor	OMIM:272800
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon	ORPHA:2570
Martin-Probst Syndrome	Umbilical hernia, Hypothyroidism, Telangiectasia	OMIM:300519
Yellow Fever	Shock, Acute pancreatitis, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capi...	ORPHA:99829
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Meningioma	Enlarged pituitary gland, Hypothalamic hypothyroidism, Reduced circulating prolactin concentratio...	ORPHA:2495
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Dext...	OMIM:300166
Down Syndrome	Ventricular septal defect, Hypothyroidism, Complete atrioventricular canal defect, Partial anomal...	OMIM:190685
Familial Adenomatous Polyposis	Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ...	ORPHA:733
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, A...	ORPHA:589
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, Parathyroid hy...	ORPHA:653
Amoebiasis Due To Free-Living Amoebae	Skin ulcer, Abnormal hypothalamus morphology, Granuloma, Increased red blood cell count, Cerebral...	ORPHA:68
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypot...	OMIM:617527
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Abnormal dental enamel morphology, Telangiectasia, Hypogonadism, Hypot...	ORPHA:221008
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Patent foramen ovale, Congenital hypothyroidism, Atrial septal defect, Pul...	OMIM:620186
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Atrial septal defect, Hypothyroidism, Subvalvular aortic stenosis	ORPHA:1052
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Congestive hear...	ORPHA:444077
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormality of the endocrine system, Congestive heart failure, Thyroiditis, Renovascular hyperten...	ORPHA:391487
Chromosome 1P35 Deletion Syndrome	Congenital hypothyroidism	OMIM:617930
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Hypotension	ORPHA:93256
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Decreased circul...	OMIM:620305
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Enamel hypoplasia, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Pallor, Adrenal pheochromocytoma	ORPHA:29072
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Hypothyroidism	OMIM:607944
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Hypothyroidism,...	ORPHA:904
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro...	OMIM:188400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hyperhidrosis, Atria...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hyperhidrosis, Atria...	ORPHA:352665
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Phace Association	Ventricular septal defect, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Central hypothyroidism	OMIM:300912
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ...	OMIM:115310
Neuhauser Syndrome	Primary hypothyroidism	OMIM:249310
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Syncope, Palpitations, ...	OMIM:170390
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali...	ORPHA:562
Phace Syndrome	Abnormal heart morphology, Abnormal cardiac septum morphology, Ectopic thyroid, Tetralogy of Fall...	ORPHA:42775
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Bradycardia	OMIM:617248
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hype...	OMIM:194050
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia	OMIM:614437
1P36 Deletion Syndrome	Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopat...	ORPHA:1606
Juvenile Nephropathic Cystinosis	Hypovolemia, Failure to thrive, Hypothyroidism	ORPHA:411634
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Diabet...	ORPHA:93111
Scleromyxedema	Raynaud phenomenon, Transient ischemic attack, Abnormality of thyroid physiology	ORPHA:167635
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:3384
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypothyroidism,...	ORPHA:506358
Holoprosencephaly 7	Fusion of the left and right thalami, Occipital meningocele, Hydrocephalus, Panhypopituitarism	OMIM:610828
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine ...	ORPHA:438213
Acrocardiofacial Syndrome	Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Camptodactyly of finger, Atrial s...	ORPHA:2008
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Hypohidrosis, Hyperhidro...	ORPHA:3206
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
White-Kernohan Syndrome	Hypothyroidism, Obesity	OMIM:619426
Hallermann-Streiff Syndrome	Congestive heart failure, Hypothyroidism	ORPHA:2108
Cystinosis, Nephropathic	Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Hypohidrosis, Weight...	OMIM:219800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Limb joint contracture, Small for gestational age, Decreased resting energy expendi...	ORPHA:404454
Esophageal Atresia	Pallor, Polyhydramnios	ORPHA:1199
Charge Syndrome	Hypoparathyroidism, Omphalocele, Overriding aorta, Hypogonadotropic hypogonadism, Decreased respo...	OMIM:214800
Bilateral Polymicrogyria	Arthrogryposis multiplex congenita, Central hypothyroidism	ORPHA:268940
Duplication Of The Pituitary Gland	Encephalocele, Abnormal pituitary gland morphology, Polyhydramnios, Abnormal hypothalamus morphology	ORPHA:314621
Cerebrotendinous Xanthomatosis	Hypothyroidism, Abnormal atrial septum morphology	ORPHA:909
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Hypothyroidism	ORPHA:1556
Coffin-Siris Syndrome 12	Hypothyroidism, Tetralogy of Fallot, Heart murmur, Failure to thrive, Patent foramen ovale	OMIM:619325
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Small for gestational age, Portal hyp...	OMIM:243800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Abnormality of thyroid physiology	OMIM:300968
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Inguinal h...	OMIM:619472
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism	ORPHA:457212
Intellectual Developmental Disorder, Autosomal Dominant 42	Failure to thrive, Congenital hypothyroidism	OMIM:616973
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Schinzel-Giedion Syndrome	Inguinal hernia, Streak ovary, Failure to thrive in infancy, Abnormal heart morphology, Central h...	ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Pallor, Ventriculomegaly	OMIM:253280
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Townes-Brocks Syndrome 1	Ventricular septal defect, Small for gestational age, Atrial septal defect, Umbilical hernia, Tet...	OMIM:107480
Townes-Brocks Syndrome	Failure to thrive, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Delay...	ORPHA:857
Infantile Nephropathic Cystinosis	Failure to thrive, Abnormality of thyroid physiology	ORPHA:411629
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism	OMIM:271510
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Thyroid carcinoma	ORPHA:276399
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Knee flexion contracture, Atrial septal defect, Hypot...	OMIM:606170
Microphthalmia, Syndromic 6	Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Anterior hypopituitarism, Abnormality...	OMIM:607932
Pmm2-Cdg	Elevated hepatic transaminase, Elevated circulating growth hormone concentration, Impaired neutro...	ORPHA:79318
Peters Plus Syndrome	Inguinal hernia, Bicuspid pulmonary valve, Congenital hypothyroidism, Abnormal cardiac septum mor...	ORPHA:709
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism, Small for gestational age	ORPHA:93357
Alström Syndrome	Hypertriglyceridemia, Dorsocervical fat pad, Insulin resistance, Hyperlipidemia, Hyperinsulinemia...	ORPHA:64
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hyperthyroidism, Hypogonadotropic hypogon...	ORPHA:3455
Sotos Syndrome	Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Bilateral...	ORPHA:821
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Flexion contracture, Knee fle...	OMIM:259050
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Premature thelarche, Congenital hypothyroidism	OMIM:147920
Doors Syndrome	Double outlet right ventricle, Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Ring Chromosome 13 Syndrome	Primary hypothyroidism	ORPHA:96176
Norrie Disease	Cryptorchidism, Abnormality of the diencephalon	ORPHA:649

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 Ncor1

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 Ncor1.

No publications found that use IMPC mice or data for Ncor1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ncor1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us