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Gene: Ncor1 MGI:1349717

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Pallor, Hepatomegaly, Hydroce... ORPHA:163596
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Abnormal heart morphol... ORPHA:99886
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71526
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Fetal Parvovirus Syndrome
Ascites, Intrauterine growth retardation, Increased nuchal translucency, Thrombocytopenia, Anemia... ORPHA:295
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Edema, ... OMIM:189800
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit ... ORPHA:369873
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor OMIM:613561
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cold Agglutinin Disease
Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... ORPHA:231222
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Huntington Disease
Mental deterioration, Depression, Decreased body mass index, Abnormal circulating cholesterol con... ORPHA:399
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Pallor, Lymp... ORPHA:3226
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Left ventricular hypertroph... OMIM:619048
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Evans Syndrome
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Hydrops fetali... ORPHA:101028
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ... ORPHA:276575
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Congenital Toxoplasmosis
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine ... ORPHA:858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276580
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Frontotemporal Dementia
Frontal lobe dementia, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotem... OMIM:600274
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Reactive hypoglycemi... ORPHA:276556
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Bradycardia, Elevated circulating thyroid-stimulating hor... ORPHA:95717
Wolfram-Like Syndrome
Male hypogonadism, Central diabetes insipidus, Hypothyroidism, Delayed puberty, Primary gonadal i... ORPHA:411590
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertriglyceridemia OMIM:617885
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... ORPHA:226313
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Nephronophthisis
Anemia ORPHA:655
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Irritabili... ORPHA:33543
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, Cardiac arrest OMIM:618235
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia, Diabetes ... OMIM:614963
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... ORPHA:331206
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Cirrhosis, Edema ORPHA:79278
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Decreased circulating T4 concentration, Hypothyroidism, Omphalocele, Decreased ... OMIM:275100
Nphp3-Related Meckel-Like Syndrome
Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Dandy-W... ORPHA:3032
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Abnormality of thyroid physiology, Inguinal hernia OMIM:615542
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia OMIM:619046
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... ORPHA:846
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, ... OMIM:614702
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:620211
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... ORPHA:101096
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Facial erythema ORPHA:284227
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Dehydration ORPHA:28
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin, Lateral ventricle dilatation, Dilated third ventricle, Cryptorchidism OMIM:619244
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... OMIM:613313
Gne Myopathy
Hypothyroidism, Cardiomyopathy ORPHA:602
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Obesity And Hypopigmentation
Polyphagia, Obesity, Hyperinsulinemia OMIM:620195
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Small for gestational age,... ORPHA:3363
Fetal Cytomegalovirus Syndrome
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterin... ORPHA:294
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema OMIM:177000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... OMIM:301310
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata... OMIM:620371
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp... ORPHA:26793
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Elevated circulating hepatic ... ORPHA:397715
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Classic Mycosis Fungoides
Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Ane... OMIM:604250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Diabetes... OMIM:609286
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Acro... OMIM:614407
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Temple Syndrome
Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia, Small for gestational age ORPHA:254516
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Rosaï-Dorfman Disease
Anemia, Erythema, Lymphadenopathy ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism, Hamstring contractures, Failure to thrive ORPHA:96183
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Periorbital edema, Edema ORPHA:3386
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura ORPHA:3204
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, Increased nuchal... ORPHA:544488
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating asp... OMIM:613154
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Waldenström Macroglobulinemia
Normocytic anemia, Periorbital edema, Pleural effusion, Splenomegaly, Pallor, Hepatomegaly, Lymph... ORPHA:33226
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Anemia ORPHA:1046
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp... ORPHA:158029
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura OMIM:620296
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Emotional lability, Polyphagia, H... ORPHA:179494
Reticular Dysgenesis
Skin ulcer, Leukopenia, Anemia, Abnormality of neutrophils, Dehydration ORPHA:33355
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema OMIM:223350
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity ORPHA:411515
Mpi-Cdg
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Hypothyroidism, Hyperinsulin... ORPHA:79319
Foxp1 Syndrome
Failure to thrive, Abnormal heart morphology, Hypothyroidism, Pulmonary arterial hypertension, Fl... ORPHA:391372
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Insulinoma
Transient global amnesia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Rea... ORPHA:97279
Fucosidosis
Failure to thrive, Cardiomegaly, Hypothyroidism, Hyperhidrosis, Hepatomegaly, Acrocyanosis, Lipoa... ORPHA:349
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Flexion ... OMIM:232500
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity ORPHA:529799
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Joint swelling, Anemia of inadequat... OMIM:609628
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... OMIM:616216
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype... ORPHA:465508
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia ORPHA:70587
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism OMIM:616784
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle, Cryptorchidism ORPHA:500055
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Failure to thrive, Hyperinsulinemia, Splenomegaly, Lipodystrophy, Prolonged ... OMIM:613327
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... OMIM:212138
Cach Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Hepatosplenomegaly, Oligohydramnio... ORPHA:135
Allan-Herndon-Dudley Syndrome
Flexion contracture, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia, Dehydration ORPHA:27
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal thalamus morphology, Microcytic... ORPHA:2959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dehydration ORPHA:79312
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Edema, Ascites OMIM:603278
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dehydration, Leukopenia, Leukocytosis, P... ORPHA:20
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Li-Campeau Syndrome
Hypothyroidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Edema OMIM:154800
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... ORPHA:90065
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuf... ORPHA:2905
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... OMIM:218700
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Ascites, Cholestasis, Intrauterine growth retardation, Oligohydramnios,... OMIM:608104
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... OMIM:617021
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... OMIM:615547
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation ORPHA:464738
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Omenn Syndrome
Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Ventriculomegaly, Intrauterine growth retardation, Dilated third ventricle OMIM:615574
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... OMIM:246450
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Umbilical hernia, Hypopituitarism, Decreased circulating T4 concentr... ORPHA:226307
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... OMIM:614736
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Hypopituitarism, Decreased response to growth hormone stimul... ORPHA:91349
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ... OMIM:609152
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism OMIM:620135
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Pituitary Apoplexy
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp... ORPHA:95613
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... OMIM:614742
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Beta-Ketothiolase Deficiency
Edema, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Dehydration ORPHA:134
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Potocki-Lupski Syndrome
Failure to thrive, Patent foramen ovale, Hypothyroidism, Atrial septal defect, Small for gestatio... OMIM:610883
Alg8-Cdg
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Premature skin wrinkli... ORPHA:79325
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Polyphagia, Hypertriglyceridemia ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecchymosis, Anemia OMIM:620514
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration, Hypochromic microcytic anemia,... ORPHA:48818
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... ORPHA:457077
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Ventriculomegaly, Polycythemia, Ascites, Pallor, Choro... OMIM:606812
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu... ORPHA:95715
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Chromosome 2Q37 Deletion Syndrome
Obesity, Hypothyroidism, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Ventriculomegaly, Hepatitis, Cholestasis, Leukopenia, Leukocytosi... ORPHA:292
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... OMIM:609053
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Failure to thrive, Hypocalcemia OMIM:606407
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly, Jaun... ORPHA:168577
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Thyroid Dyshormonogenesis 1
Hypothyroidism, Umbilical hernia, Goiter OMIM:274400
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hypertension, Hypothyroidism, Abnormality of the endoc... ORPHA:77296
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops feta... OMIM:618835
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect OMIM:301058
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops feta... OMIM:618839
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... ORPHA:83469
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia OMIM:188580
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac... OMIM:617713
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia, Hypoglycemic seizures OMIM:609734
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Aa Amyloidosis
Hypotension, Abnormal heart morphology, Adrenal insufficiency, Hypothyroidism, Hepatomegaly, Enla... ORPHA:85445
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia OMIM:618398
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight OMIM:618347
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis OMIM:241850
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth, Edema, Pedal edema OMIM:152800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positi... OMIM:304790
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Edema OMIM:619183
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia, Hypothyroidism, He... ORPHA:254913
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi... ORPHA:40366
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... ORPHA:276608
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal thalamus morphology ORPHA:467166
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... ORPHA:288
Atelis Syndrome 1
Hypothyroidism, Atrial septal defect, Ventricular septal defect OMIM:620184
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Cervical ly... ORPHA:3260
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Abnormal thalamic MRI signal intensity ORPHA:309155
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Focal T2 hyperintense thalamic lesion ORPHA:254881
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Intrauterine growth retardation, Reticulocyt... ORPHA:71275
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Obesity, Mitral regurgitation, Ventricular septal defec... ORPHA:254346
Nasu-Hakola Disease
Memory impairment, Frontal lobe dementia, Disinhibition, Irritability, Abnormal adipose tissue mo... ORPHA:2770
Bazex Syndrome
Anemia, Scaling skin, Edema ORPHA:166113
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Inguinal hernia OMIM:613970
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block, Congestive heart f... ORPHA:300751
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
Prolidase Deficiency
Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechia... OMIM:170100
Wells Syndrome
Skin vesicle, Eosinophilia, Edema ORPHA:901
Ddost-Cdg
Lipodystrophy, Failure to thrive, Primary hypothyroidism ORPHA:300536
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Cyanosis, Bradycardia, Small for gestational age ORPHA:391673
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Hypothyroidism OMIM:619851
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr... ORPHA:88
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Hepatoblastoma, Choroid plexus cyst, Spina... OMIM:304050
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Optic Atrophy 1
Pallor OMIM:165500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Edema OMIM:226300
Aggressive Systemic Mastocytosis
Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,... ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation, Nonimmune hydrops fetalis OMIM:618838
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Polyhydramnios ORPHA:3405
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:363528
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema, Dilated third ventricle ORPHA:314404
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty, Camptodactyly of finger ORPHA:2994
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia OMIM:619272
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Decreased body weight, Hypothyroidism, Delayed puberty, Diabetes mellitus,... ORPHA:391408
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Ventriculomegaly, Intrauterine growth retardation, Excessive wrinkle... ORPHA:3322
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... OMIM:608594
Chromosome 22Q13 Duplication Syndrome
Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, I... OMIM:615538
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:600901
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Hypothyroidism, Decreased body weight OMIM:607906
B4Galt1-Cdg
Hepatomegaly, Splenomegaly, Hypothyroidism, Small for gestational age ORPHA:79332
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Ventricular septal defect OMIM:619908
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:612885
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Dermatitis Herpetiformis
Microcytic anemia, Erythema, Skin vesicle, Edema ORPHA:1656
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Fusion of the left and right thalami, Dilated fourth ventricle, Dry skin OMIM:619306
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Anemi... OMIM:227645
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypothyroidism, Delayed puberty, Adrenal hypoplas... ORPHA:95496
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Cerebral vasculitis, Goiter ORPHA:83601
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s... OMIM:269700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Hypothyroidism, Failure to thrive OMIM:618999
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:227650
Senior-Loken Syndrome 4
Anemia OMIM:606996
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... ORPHA:758
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Disinhibition, Polyphagia, Repetitive compulsive behavior, Frontotemporal deme... OMIM:607485
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Failure to thrive in infancy, Hypothyroidism OMIM:618829
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... OMIM:605373
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ventriculomegaly, Ascites, Hepatosplenomegaly, Intrauterine growth retardation, ... OMIM:608013
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukoc... ORPHA:514
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland, Ventricular septal defect ORPHA:1923
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Torsade de pointes, Premature thelarche, Hypothyroidism, Ventricular... OMIM:616878
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Polyphagia, In... ORPHA:251004
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... OMIM:612469
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites, Abnormality of the liver, Thrombocytopenia, Thalamic hemorrhage ORPHA:464321
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, La... OMIM:619487
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Type II diabetes mellitus, Increased body weight, Po... ORPHA:398069
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Low plasma citrulline, Weight loss, Steatorrhea, Abnormal blood io... ORPHA:95427
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Small for gestational age OMIM:616817
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... ORPHA:1667
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism ORPHA:2668
Orthostatic Hypotension 2
Anemia OMIM:618182
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Ventricular septal defect, Hyperhidrosis, Bradycardia, Retinal hemorrhage, Tach... OMIM:614653
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... OMIM:616959
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... ORPHA:456312
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatosplenomegaly, Hypothyroidism OMIM:619013
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:277400
Cystinosis
Type I diabetes mellitus, Failure to thrive, Portal hypertension, Hypothyroidism, Delayed puberty... ORPHA:213
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Splenomegaly, Hashim... OMIM:613385
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hydrocephalus, Thrombocytopenia, ... OMIM:259710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia OMIM:617397
Hemophagocytic Lymphohistiocytosis, Familial, 2
Generalized edema, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leu... OMIM:603553
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congenital hyp... ORPHA:209905
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Emotional lability, Irritability, Polyphagia, Hyperactivity ORPHA:525731
Primary Intestinal Lymphangiectasia
Generalized edema, Peritoneal effusion, Ascites, Lymphopenia, Pleural effusion, Reduced proportio... ORPHA:90362
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Ventriculomegaly, Hepatitis, Cholestasis, Portal hypertension, Hypochr... ORPHA:440713
Japanese Encephalitis
Abnormal thalamus morphology, Focal T2 hyperintense thalamic lesion, Pulmonary edema, Neutrophili... ORPHA:79139
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Hypothyroidism, Mitral regurgitation OMIM:619750
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism OMIM:617930
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Eosinophilic Gastroenteritis
Ascites, Leukocytosis, Eosinophilia, Anemia, Edema ORPHA:2070
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus, Abnormality of the diencephalon ORPHA:2720
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Hepatomegaly, Cachexia, Hypothyroidism, M... ORPHA:3452
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal thalamus morphology ORPHA:88619
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepa... OMIM:614946
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Intrauterine growth retardation, Neutropenia OMIM:617056
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Wolfram Syndrome 1
Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Lig4 Syndrome
Failure to thrive, Type II diabetes mellitus, Telangiectasia, Hypothyroidism, Small for gestation... OMIM:606593
Aicardi-Goutieres Syndrome 1
Vasculitis, Cardiomyopathy, Splenomegaly, Hypothyroidism, Hepatomegaly, Diabetes insipidus, Acroc... OMIM:225750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Cryptorchidism ORPHA:404440
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Elevated circulating hepatic transaminase concentration, H... ORPHA:829
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Oslam Syndrome
Anemia OMIM:165660
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Failure to thrive, Goiter OMIM:231690
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis, Mitral valve prolapse ORPHA:1563
Oculoskeletodental Syndrome
Elbow flexion contracture, Splenomegaly, Lacunar stroke, Hypothyroidism, Hepatomegaly, Small for ... OMIM:618440
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... OMIM:227646
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Failure to thrive, Goiter, Reduced left ventricular ejection fraction, Pa... ORPHA:254892
Proteasome-Associated Autoinflammatory Syndrome 3
Periorbital edema, Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenome... OMIM:617591
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concentration, Failure to t... OMIM:176270
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Leigh Syndrome
Hepatic failure, Intrauterine growth retardation, Neutropenia, Anemia, Abnormal thalamic MRI sign... ORPHA:506
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hashimoto thyroiditis, Hypothyroidism, Thyrotoxicosis w... ORPHA:64744
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Brain abscess, Edema, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia, He... ORPHA:544482
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... OMIM:620351
Neuroblastoma
Anemia, Anemic pallor, Lymphadenopathy, Thrombocytopenia ORPHA:635
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Failur... ORPHA:1600
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615108
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
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Narcolepsy, Hyperglycemia, Obesity, Hyperlipidem... ORPHA:293987
Rabson-Mendenhall Syndrome
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Cardiomyopathy... ORPHA:769
Autosomal Recessive Malignant Osteopetrosis
Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Hydrocephalus, Anemia ORPHA:667
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Generalized edema, Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thr... OMIM:267700
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, H... ORPHA:370959
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplen... OMIM:259720
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... OMIM:275350
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H... ORPHA:77259
Adiposis Dolorosa
Telangiectasia of the skin, Obesity, Hypothyroidism, Xerostomia ORPHA:36397
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Type I diabetes mellitus, Failure to thrive in infancy, Hepatosplenomegaly, Hypothyro... OMIM:606367
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... OMIM:618922
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Hypothyroidism, Hyperthyroidism, Hypertension, Diabetes mellitus ORPHA:449291
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Decreased response to growth hormone stimulation test, Ventricular septal d... OMIM:614114
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Weight loss, Bradycardia ORPHA:221098
Cowden Syndrome 6
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615109
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... ORPHA:99827
Fructose-1,6-Bisphosphatase Deficiency
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steato... ORPHA:348
Melas
Type I diabetes mellitus, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Concentric h... ORPHA:550
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
D-Glyceric Aciduria
Failure to thrive, Bradycardia OMIM:220120
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Small for gestational age, Overweight OMIM:617796
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Failure to thrive, Tetralogy of Fallot,... ORPHA:3426
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Failure to thrive in infancy, Hepatosplenomegaly, Portal hypertension, ... ORPHA:228426
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation... ORPHA:499009
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177904
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177901
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Inguinal hernia, Small for gestational age ORPHA:397590
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Monosomy 18P
Hypothyroidism, Hypertension ORPHA:1598
Nephronophthisis 9
Anemia OMIM:613824
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Irritabilit... ORPHA:79444
Retinitis Pigmentosa 51
Pallor OMIM:613464
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Von Hippel-Lindau Disease
Macular edema, Polycythemia, Pallor, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Pan... ORPHA:892
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum OMIM:608068
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Type II diabetes mellitus, Polyphagia, Skin... ORPHA:398079
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:324737
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypothyroidism, Patent foramen ovale ORPHA:293939
Proximal Spinal Muscular Atrophy
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Atrial septal d... ORPHA:70
Icf Syndrome
Umbilical hernia, Lymphopenia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils ORPHA:2268
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Hypertension OMIM:617763
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty ORPHA:819
Nephrotic Syndrome, Type 1
Hypothyroidism, Small for gestational age OMIM:256300
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural effusion, Lung abs... ORPHA:67
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration OMIM:251110
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Angelman Syndrome
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... ORPHA:72
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Flexi... ORPHA:59
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Testicular atrophy OMIM:618165
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Cardiomyopathy, Abnormal subcutaneous fat tissue distribution, Hepatomegaly, H... OMIM:212065
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation, Abnormal thalamus morphology ORPHA:300570
Dravet Syndrome
Pallor ORPHA:33069
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypogonadotropic hypogonadism, Abnormal thyroid... OMIM:616113
Dysbetalipoproteinemia
Obesity, Angina pectoris, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus ORPHA:412
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Atrial septal def... ORPHA:79330
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentr... OMIM:620376
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypothyroidism, ... OMIM:615952
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Castleman Disease
Anasarca, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia,... ORPHA:160
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Alstrom Syndrome
Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ... OMIM:203800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Failure to thrive, Atrial septal defect, Joint contracture OMIM:618005
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Bradycardia ORPHA:565624
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Short attentio... OMIM:156200
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Hypothyroidism, Diabetes mellitus ORPHA:98673
Hydatidiform Mole
Anemia ORPHA:99927
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Hypothyroidism, Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Lig4 Syndrome
Hepatomegaly, Telangiectasia of the skin, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po... ORPHA:284
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration OMIM:251100
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... OMIM:618397
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Abnormality... ORPHA:289494
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Small for gestational age, Failure to thrive OMIM:619147
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Hydrocephalus OMIM:617244
Abcd Syndrome
Polycythemia, Neonatal death OMIM:600501
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ... ORPHA:95712
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:158350
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation, Bilateral cryptorch... ORPHA:434179
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus OMIM:616541
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Inguinal hernia, Splenomega... ORPHA:84064
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telangiectasia of the skin, Hypothyroidism, Umbilical hernia ORPHA:85321
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Q Fever
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepatosplenomegaly... ORPHA:781
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Failure to thrive, Splenomegaly, Hypothyroidism, Thyroiditis OMIM:614700
Lujo Hemorrhagic Fever
Hypotension, Shock, Hyperhidrosis, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Mosaic Trisomy 9
Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Spina bifida,... ORPHA:99776
Isolated Biliary Atresia
Failure to thrive, Hypopituitarism, Splenomegaly, Severe failure to thrive, Hypothyroidism, Hepat... ORPHA:30391
Acute Disseminated Encephalomyelitis
Cerebral edema, Viral hepatitis, Abnormal thalamic MRI signal intensity ORPHA:83597
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... ORPHA:2255
Ring Chromosome 12 Syndrome
Hypothyroidism, Secundum atrial septal defect, Small for gestational age ORPHA:1439
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, I... OMIM:603467
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Dry skin, Pancytopenia, Leukopenia, Intrauterine gr... OMIM:613990
Rhombencephalosynapsis
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus ORPHA:59315
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Jung Syndrome
Hypothyroidism ORPHA:2321
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... ORPHA:1332
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Degcags Syndrome
Ventriculomegaly, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Polyhydramnios, Cryp... OMIM:619488
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... OMIM:260400
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Pallor, Eosinoph... OMIM:308300
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia ORPHA:505395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morpholog... ORPHA:97297
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Bicuspid aortic valve, Hypothyroidism, Abnormal cardiac septum... ORPHA:96169
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Type I diabetes mellitus, Hypothyroidism OMIM:620430
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Irritabilit... ORPHA:79443
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Tuberous Sclerosis 1
Precocious puberty, Dental enamel pits, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-Whit... OMIM:191100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Dry skin, Reticulocytopenia, B lymphocytope... ORPHA:508542
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Cardiomyopathy ORPHA:445038
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Decreased response to growth hormone stimulation test, Bilateral camptodactyly,... OMIM:619234
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Alexander Disease
Precocious puberty, Hypotension, Failure to thrive, Hypertension, Hypothyroidism, Hyperhidrosis, ... ORPHA:58
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Hyperhidrosis, Bradycardia, Tac... ORPHA:94093
Thyrotoxic Periodic Paralysis
Graves disease, Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interva... ORPHA:79102
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Prolactinoma
Secondary growth hormone deficiency, Pallor, Adrenocorticotropic hormone deficiency, Elevated cir... ORPHA:2965
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age ORPHA:69665
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness ORPHA:251028
Immunodeficiency 22
Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Anemia OMIM:615758
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hematochezia, Hypothyroidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal d... ORPHA:453499
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sep... ORPHA:2519
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Polyphagia, Fasting hyperinsulinemia, Increased body mass index ORPHA:300373
Myopathy, Mitochondrial, And Ataxia
Pallor, Increased circulating prolactin concentration OMIM:617675
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... OMIM:610199
Imerslund-Grasbeck Syndrome 2
Anemia, Megaloblastic anemia OMIM:618882
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Cachexia, Hypothyroidism, H... ORPHA:37042
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Failure to thrive, Camptodactyly of finger, Atrioventricular canal defect, Ventr... ORPHA:3047
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Hypothyroidism, Maternal diabetes ORPHA:280200
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Splenomegaly, Hepatomegaly, Hydrocephalus, Anemia OMIM:612301
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive be... ORPHA:96121
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Achilles t... OMIM:616263
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Trichohepatoneurodevelopmental Syndrome
Exocrine pancreatic insufficiency, Splenomegaly, Ventricular septal defect, Decreased body weight... OMIM:618268
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Intrauterine growth retar... ORPHA:2177
Sarcoidosis
Hepatic failure, Chylothorax, Decreased liver function, Abnormal lymph node morphology, Parotitis... ORPHA:797
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Ventricular... ORPHA:488632
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Hypot... ORPHA:51
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Co... ORPHA:247691
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Obesity, Streak ovary, Bicuspid aortic valve, Hypothy... ORPHA:1772
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Hypothyroidism ORPHA:3258
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Hypothyroidism, Inguinal hernia, Hypohidrosis ORPHA:1812
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Hypothyroidism, Progressive flexion contractures ORPHA:98808
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:101800
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly OMIM:277590
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Dilated cardiomyopathy OMIM:603736
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Congestive heart failure, Transient ischemic attack, Abnormality of thyroid ph... ORPHA:1830
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Irritability, Polyphagia, Attention deficit hyperactivity di... OMIM:615873
Kikuchi-Fujimoto Disease
Erythema, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology... ORPHA:50918
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Splenomegaly, Hypertension, Hypothyroidism... OMIM:615846
Immunodeficiency 31C
Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly, Diabetes mellitus OMIM:614162
Tuberous Sclerosis 2
Precocious puberty, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White syndrome, Shagreen... OMIM:613254
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial ... ORPHA:77261
Tangier Disease
Dry skin, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia ORPHA:31150
Spondyloenchondrodysplasia
Vasculitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Raynaud phenom... ORPHA:1855
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Ingu... OMIM:300998
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Hypothyroidism OMIM:251900
Abetalipoproteinemia
Failure to thrive, Congestive heart failure, Cardiomegaly, Hypothyroidism, Hepatomegaly ORPHA:14
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Hypothyroidism OMIM:618569
Double Outlet Left Ventricle
Failure to thrive, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, A... ORPHA:3427
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Failure to thrive, Umbilical hernia, Abnormal d... ORPHA:567
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Leprechaunism
Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hypertrophic cardiomyopathy, Hyper... ORPHA:508
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Small for gestational age, Decreased response to gro... ORPHA:268261
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Gangliocytoma
Dementia, Polyphagia ORPHA:251937
Encephalitis Lethargica
Bradycardia ORPHA:83600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Compensated hypothyroidism, Abnormal EKG ORPHA:480864
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hypothyroidism, Failure to thrive, Thyroiditis ORPHA:83471
Developmental And Epileptic Encephalopathy 50
Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis OMIM:616457
Lymphatic Malformation 6
Cellulitis, Splenomegaly, Hypothyroidism, Atrial septal defect OMIM:616843
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Hypothyroidism, Contractures of the large ... ORPHA:96179
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Orchitis, Hypovolemia, Pancreatitis, Internal hem... ORPHA:99826
Diaphanospondylodysostosis
Intrauterine growth retardation, Oligohydramnios, Increased nuchal translucency, Abnormal liver l... OMIM:608022
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm... ORPHA:363958
Tay-Sachs Disease
Ventriculomegaly, Abnormal thalamic MRI signal intensity ORPHA:845
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Absence of subcutaneous fat, Portal hypertension, Patent foram... OMIM:620005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Nephronophthisis 4
Anemia OMIM:606966
Retinitis Pigmentosa 75
Pallor OMIM:617023
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Emotional lability, H... OMIM:620330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Failure to thrive, Pulmonary venous hypertension, Hypothyroidism, Pancreatitis, Delaye... ORPHA:79259
Craniopharyngioma
Polyphagia, Obesity, Type II diabetes mellitus ORPHA:54595
Beckwith-Wiedemann Syndrome
Visceromegaly, Umbilical hernia, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, ... ORPHA:116
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:276700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Pallor, Extraadrenal pheochromocytoma ORPHA:276621
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Tay-Sachs Disease
Pallor OMIM:272800
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Adrenal insufficiency, Mitral valve prolapse, Contractur... OMIM:300166
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Pulmonary edema, Abnormal hepatic echogenicity, Hepatomeg... OMIM:619991
Martin-Probst Syndrome
Telangiectasia, Hypothyroidism, Umbilical hernia OMIM:300519
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Hydranencephaly, Abnormality of the diencephalon ORPHA:2570
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... ORPHA:2495
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Scarring, Pulmonary ar... OMIM:614437
Familial Adenomatous Polyposis
Abnormal cementum morphology, Pituitary adenoma, Goiter, Abnormality of the thyroid gland, Hypoth... ORPHA:733
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Palmoplantar hyperhidrosis, Contractures of the large joints, Failure ... OMIM:617527
Myasthenia Gravis
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Raynaud phenomenon, Abnorm... ORPHA:589
Yellow Fever
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Supraventricular arrhy... ORPHA:99829
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Hypothyroidism, Subvalvular aortic stenosis, Atrial septal defect ORPHA:1052
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Pallor, Neoplasm of the l... ORPHA:653
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Abnormal heart m... ORPHA:444077
Childhood Absence Epilepsy
Pallor ORPHA:64280
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Congestive heart failure, Hepatosplenomegaly, Patent foramen ovale, Pri... ORPHA:391487
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Decreased circulating ACTH concentration, Te... OMIM:620305
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Failure to thrive, Bradycardia ORPHA:79404
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Granuloma, Skin ulcer, Abnormal hypothalamus morphology, Cerebral... ORPHA:68
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypothyroidism, Hypertension ORPHA:93256
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Congenital hypothyroidism, Patent foramen ovale, Aplasia of the thymus, Hypothyroidism, Pulmonary... OMIM:620186
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... ORPHA:904
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Pallor, Extraadrenal pheochromocytoma ORPHA:29072
Digeorge Syndrome
Parathyroid hypoplasia, Umbilical hernia, Tetralogy of Fallot, Obesity, Inguinal hernia, Splenome... OMIM:188400
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Raynaud phenomenon OMIM:607944
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hypothyroidism, Hype... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hypothyroidism, Hype... ORPHA:352665
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Abnormal dental enamel morphology, Telangiectasia, Hypothyroidism, Small for gestat... ORPHA:221008
Phace Association
Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid OMIM:606519
Alobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93924
Semilobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:220386
Goodpasture Syndrome
Anemia, Pallor OMIM:233450
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Failure to thrive OMIM:300912
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Enamel hypoplasia, Hyp... OMIM:170390
Phace Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Hypothyroidism, Abnormal cardiac septum morpholog... ORPHA:42775
1P36 Deletion Syndrome
Dilated cardiomyopathy, Failure to thrive, Camptodactyly of finger, Hypogonadism, Abnormal heart ... ORPHA:1606
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Bradycardia OMIM:617248
Neuhauser Syndrome
Primary hypothyroidism OMIM:249310
Juvenile Nephropathic Cystinosis
Hypothyroidism, Failure to thrive, Hypovolemia ORPHA:411634
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hypothyroidism, Abnormality of endocrine pancreas ph... ORPHA:93111
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus... ORPHA:2008
Steinert Myotonic Dystrophy
Atrial fibrillation, Male hypogonadism, Dilated cardiomyopathy, Prolonged PR interval, Decreased ... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Abnormal heart morphology, Ute... ORPHA:438213
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery stenosis, Failure to thri... OMIM:194050
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Patent foramen ovale, Distal arthrogryposi... ORPHA:506358
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Hydrocephalus, Occipital meningocele OMIM:610828
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Hypothyroidism, Fle... ORPHA:3206
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Congenital hypothyroidism, ... OMIM:607872
Hallermann-Streiff Syndrome
Hypothyroidism, Congestive heart failure ORPHA:2108
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in inf... OMIM:219800
Bardet-Biedl Syndrome
Cardiomyopathy, Hypogonadism, Abnormal heart morphology, Obesity, Type II diabetes mellitus, Chil... ORPHA:110
White-Kernohan Syndrome
Obesity, Hypothyroidism OMIM:619426
Esophageal Atresia
Polyhydramnios, Pallor ORPHA:1199
Cerebrotendinous Xanthomatosis
Hypothyroidism, Abnormal atrial septum morphology ORPHA:909
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Secundum atrial septal defect, Umbilica... OMIM:214800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Corneal scarring, Splenomegaly, Corneal neovascularization, Decreased resting ... ORPHA:404454
Duplication Of The Pituitary Gland
Polyhydramnios, Abnormal hypothalamus morphology, Encephalocele, Abnormal pituitary gland morphology ORPHA:314621
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Central hypothyroidism ORPHA:268940
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Hypothyroidism ORPHA:1556
Coffin-Siris Syndrome 12
Failure to thrive, Tetralogy of Fallot, Patent foramen ovale, Hypothyroidism, Heart murmur OMIM:619325
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Failure to thrive, Exocrine pancreatic insufficiency, Situs inversus tota... OMIM:243800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Atrial septal defect OMIM:300968
Viss Syndrome
Coronary sinus enlargement, Failure to thrive, Umbilical hernia, Inguinal hernia, Mitral valve pr... OMIM:619472
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Intellectual Developmental Disorder, Autosomal Dominant 42
Congenital hypothyroidism, Failure to thrive OMIM:616973
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Schinzel-Giedion Syndrome
Central hypothyroidism, Umbilical hernia, Abnormal heart morphology, Failure to thrive in infancy... ORPHA:798
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu... ORPHA:249
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Pallor, Hydrocephalus OMIM:253280
Townes-Brocks Syndrome 1
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Atrial septal d... OMIM:107480
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Townes-Brocks Syndrome
Failure to thrive, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Hypothyroidism, Dela... ORPHA:857
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Failure to thrive ORPHA:411629
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Peters Plus Syndrome
Hypoplastic left heart, Umbilical hernia, Congenital hypothyroidism, Inguinal hernia, Abnormal ca... ORPHA:709
Genitopatellar Syndrome
Knee flexion contracture, Hip contracture, Ventricular septal defect, Hypothyroidism, Atrial sept... OMIM:606170
Microphthalmia, Syndromic 6
Abnormality of the hypothalamus-pituitary axis, Failure to thrive, Hypothyroidism, Adrenal hypopl... OMIM:607932
Alström Syndrome
Insulin resistance, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Dorsocervical fat pad, ... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasarca, Increased ci... ORPHA:79318
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Small for gestational age ORPHA:93357
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Hip cont... ORPHA:821
Primrose Syndrome
Hip contracture, Knee flexion contracture, Hypothyroidism, Delayed puberty, Truncal obesity, Flex... OMIM:259050
Kabuki Syndrome 1
Premature thelarche, Congenital hypothyroidism, Atrial septal defect, Ventricular septal defect OMIM:147920
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Doors Syndrome
Congenital hypothyroidism, Double outlet right ventricle, Adrenal hyperplasia 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

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MGI Allele Allele Type Produced
Ncor1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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