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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f... OMIM:620198
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Polyhydramnios, Hydrops fetalis, Hydrocephalus, Splenomegaly, Abnormal hemo... ORPHA:163596
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D... OMIM:616201
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
X-Linked Sideroblastic Anemia
Anemia, Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Beta-Thalassemia
Hepatomegaly, Skin ulcer, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl... ORPHA:848
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leukocyt... ORPHA:824
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissu... ORPHA:71526
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Skin ulcer, Anemia, Pancyt... ORPHA:507
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Increased nuchal translucency, Thrombocytopenia, Intrauterine g... ORPHA:295
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia, Elevated circulating hepatic transaminase conc... OMIM:189800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:95716
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit... ORPHA:369873
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Huntington Disease
Irritability, Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Memory impairment,... ORPHA:399
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hypopara... ORPHA:231222
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia OMIM:611804
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Lymphedema, Myeloprolif... ORPHA:3226
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Failure to thrive, ... OMIM:619048
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Anemia, Spontaneous hemolytic crises, Increas... ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... OMIM:254450
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Hypoth... OMIM:601005
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Hypoketotic hypogl... ORPHA:276575
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Anemia, Premature skin wrinkling, Hepatosplenomegaly, Thrombocytopeni... ORPHA:101028
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Large for gestational age,... ORPHA:276580
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Anemia, Increased mean corpuscular volum... ORPHA:98870
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Lymphade... ORPHA:858
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Large for gestational age, Hypoketotic hypoglycemia, Polyphagia... ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, Hemolytic anemia OMIM:611590
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Bradycardia, De... ORPHA:95717
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Reticulocyt... ORPHA:300298
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Hypothyroidism, Primary gonadal i... ORPHA:411590
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Bradyc... ORPHA:226313
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, N... OMIM:615285
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Insulin resistance OMIM:617885
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Decreased body weight, Increased... OMIM:620085
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Skin ulcer, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mea... ORPHA:231226
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Patent foramen ... OMIM:225250
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Pallor, Megaloblastic anemia ORPHA:49827
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Hypochromic microcytic anemia... ORPHA:231214
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Hypopituitarism, Erythroid hyperplas... OMIM:600462
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Nephronophthisis
Anemia ORPHA:655
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Anemia, Hemophagocytosis OMIM:608898
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Leptin Receptor Deficiency
Emotional lability, Polyphagia, Obesity, Diabetes mellitus, Abnormal eating behavior, Aggressive ... OMIM:614963
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased thyroid-stimulating hormone level, Omphalocele, Hypothyroidism, Decreased circulating T... OMIM:275100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia, Erythema ORPHA:79278
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Dandy-Wa... ORPHA:3032
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Hyperinsuli... OMIM:620211
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Tetralogy of Fallot, Inguinal hernia OMIM:615542
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia OMIM:619046
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Cardiomegaly, ... OMIM:614702
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetalis, Cholelithiasis, Pleural... ORPHA:846
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hepatomegaly, Anemia, Hydrops fetalis, Ascites, Thrombocytopenia ORPHA:2123
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... OMIM:614450
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Ascites, Polycythemia, Increased hematocrit ORPHA:284227
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Niemann-Pick Disease, Type B
Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Dehydration ORPHA:28
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:603373
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Dilated third ventricle, Dry skin, Lateral ventricle dilatation OMIM:619244
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, Refractory si... OMIM:557000
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Gne Myopathy
Hypothyroidism, Cardiomyopathy ORPHA:602
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom... OMIM:613313
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Small for gestational age,... ORPHA:3363
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Petechia... ORPHA:294
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Petechiae, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Edema, Hemolytic anemia, Hepatic failure OMIM:177000
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Normochromic... ORPHA:95512
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Panhypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Normochromic... ORPHA:95513
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital throm... OMIM:616738
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Hypoxemia, Abnormal mitral valve morpholo... ORPHA:860
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Pancreatitis, Splenic cyst, Hydranencephaly, Hydrocephalus, Dilated third ventri... OMIM:620371
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Atrial Standstill 2
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, A... OMIM:615745
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Elevated circulating hepatic transaminase concentra... 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
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor ORPHA:90033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes... OMIM:609286
Classic Mycosis Fungoides
Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly... ORPHA:2584
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemochromatosis, Type 3
Cirrhosis, Purpura, Elevated circulating hepatic transaminase concentration, Anemia, Lymphopenia,... OMIM:604250
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Failure to thrive, Acrocyanosis, Atrioventricul... OMIM:614407
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hydrops fetalis, Anemia of inadequate production, Persi... OMIM:613673
Temple Syndrome
Polyphagia, Obesity, Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age ORPHA:254516
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Hamstring contractures, Congenital hypothyroidism ORPHA:96183
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Erythema ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hydrops fetalis, Anemia of inadequate production, Macrocytic dyserythropoietic anem... OMIM:224120
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Periorbital edema, Edema, Pallor ORPHA:3386
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Anemia, Petechiae, Leukocytosis, Throm... ORPHA:90051
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Stormorken-Sjaastad-Langslet Syndrome
Purpura, Anemia, Asplenia ORPHA:3204
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Dilated third ventricle, Bilateral cryptorchidism, Increased nuchal translucency,... ORPHA:544488
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive... ORPHA:79319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea OMIM:605911
Bone Marrow Failure Syndrome 4
Anemia, Dry skin, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:618116
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Hepatomegaly, Lymphadenopathy, Pedal edema, Pleural effusion, Splenom... ORPHA:33226
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Anemia, Ascites, Splenomegaly, Oligohydramnios ORPHA:1046
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Petechiae, Thrombocytopenia, S... ORPHA:158029
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit... ORPHA:90674
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly OMIM:620296
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly... OMIM:612840
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Insulinoma
Hyperinsulinemia, Transient global amnesia, Increased body weight, Polyphagia, Nonketotic hypogly... ORPHA:97279
Foxp1 Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Failure to thrive, Overweight, Abnormal heart mo... ORPHA:391372
Reticular Dysgenesis
Skin ulcer, Anemia, Dehydration, Leukopenia, Abnormality of neutrophils ORPHA:33355
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Emotional lability, Polyphagia, Obesity, Insulin-resistan... ORPHA:179494
Dohle Bodies And Leukemia
Lymphedema, Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughter ORPHA:411515
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Fucosidosis
Lipoatrophy, Hepatomegaly, Hypothyroidism, Failure to thrive, Hyperhidrosis, Acrocyanosis, Cardio... ORPHA:349
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Failure to thrive, Hepatosplenomegaly, Flexion ... OMIM:232500
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Cyanosis, Bradycardia, ST segment elevation, Cardiomyo... OMIM:261740
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal thalamic MRI signal intensity, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal thalamic MRI signal intensity, Hemolytic anemia ORPHA:529799
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Joint swe... OMIM:609628
Thrombocytopenia 5
Anemia, Petechiae, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Failure ... OMIM:613327
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis ORPHA:70587
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Flexion contracture OMIM:300523
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Aggressive behavior ORPHA:261229
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Dilated third ventricle ORPHA:500055
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Cach Syndrome
T2 hypointense thalamus, Pancreatitis, Hepatosplenomegaly, Lateral ventricle dilatation, Intraute... ORPHA:135
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Dehydration, Leukopenia, Thrombocytopenia ORPHA:27
Peripheral Cone Dystrophy
Pallor OMIM:609021
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Testicu... ORPHA:465508
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor, Anemia ORPHA:329971
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Abnormal thala... ORPHA:2959
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Cardiac arrest, Premature ven... OMIM:212138
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Dehydration, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Edema, Anemia, Ascites OMIM:603278
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Potocki-Shaffer Syndrome
Delayed puberty, Hypertension, Hypothyroidism ORPHA:52022
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Acute pa... ORPHA:20
Li-Campeau Syndrome
Hypothyroidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Anemia OMIM:614514
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... OMIM:218700
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Poems Syndrome
Hepatomegaly, Abnormality of the endocrine system, Visceromegaly, Pulmonary arterial hypertension... ORPHA:2905
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Neonatal death, Thrombocyto... OMIM:608104
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi... OMIM:617021
Schaaf-Yang Syndrome
Polyphagia, Impulsivity, Camptodactyly, Skin-picking, Obesity, Flexion contracture, Failure to th... OMIM:615547
Sheehan Syndrome
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... ORPHA:91355
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Cholelithiasis, Lateral ventricle dilatation ORPHA:464738
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis, Anemia OMIM:606069
Asparagine Synthetase Deficiency
Intrauterine growth retardation, Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle OMIM:615574
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Leukocytosis, Sp... ORPHA:39041
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Graves Disease
Hyperactivity, Irritability, Polyphagia, Weight loss OMIM:275000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Dehydration, Elevated circulating alanine aminotransferase concentration, E... OMIM:246450
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Dextrocardia, Situs inversus totalis OMIM:617577
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Increased circulating gonadotropin level, ... ORPHA:91349
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia... OMIM:235700
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Anemia OMIM:620135
Pituitary Apoplexy
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:95613
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... ORPHA:95715
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce... OMIM:614742
Potocki-Lupski Syndrome
Patent foramen ovale, Hypothyroidism, Failure to thrive, Atrial septal defect, Small for gestatio... OMIM:610883
Beta-Ketothiolase Deficiency
Hepatomegaly, Dehydration, Leukocytosis, Edema, Pallor, Thrombocytosis ORPHA:134
Cinca Syndrome
Anemia, Lymphadenopathy, Lymphedema, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Alg8-Cdg
Hydrops fetalis, Anemia, Elevated circulating hepatic transaminase concentration, Premature skin ... ORPHA:79325
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Petechiae, Ecchymosis, Inguinal lymphadenopathy, Cervical lymphadenopathy OMIM:620514
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Polyphagia, Obesity, Insulin-resistant diabetes mellitus ORPHA:66628
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Hypochromic microcytic anemia, Abnormal pancreas morpholo... ORPHA:48818
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism OMIM:618625
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Hepatosplenomegal... ORPHA:457077
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia OMIM:614962
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Fumarase Deficiency
Intrahepatic cholestasis, Polyhydramnios, Choroid plexus cyst, Ascites, Polycythemia, Ventriculom... OMIM:606812
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... ORPHA:905
Congenital Enterovirus Infection
Hydrops fetalis, Neutropenia, Anemia, Polyhydramnios, Abnormal macrophage morphology, Cholestasis... ORPHA:292
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytopenia, ... OMIM:226990
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Colpocephaly,... OMIM:609053
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive, Neonatal hypoglycemia, Polyphagia OMIM:606407
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypertension, Hypothyroidism, Obesity, Abnormality of the th... ORPHA:77296
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Decreased thalamic volume, Communicating hydrocephalus, H... ORPHA:168577
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Abnormal cardiac ventricular funct... ORPHA:439232
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect OMIM:301058
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Neonatal death, Nonimmune hydrops fetalis, Intrauterine growth ... OMIM:618835
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen... ORPHA:398124
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hyperthyroidism, Weight loss, Tachycardia, Goiter OMIM:188580
Tufted Angioma
Petechiae, Purpura, Anemia, Thrombocytopenia ORPHA:1063
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Neonatal death, Nonimmune hydrops fetalis, Intrauterine growth ... OMIM:618839
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Lymphadenopathy, Anemia, Abnormal peritoneum morphology, ... ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Cardiac arrest, Hypothyroidism, Left ventricular hypertrophy, Cardi... OMIM:617713
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Polyphagia, Obesity, Decreased circulating cortisol level OMIM:609734
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple... OMIM:606003
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness OMIM:620439
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Aa Amyloidosis
Enlarged kidney, Hepatomegaly, Hypotension, Hypothyroidism, Abnormal heart morphology, Adrenal in... ORPHA:85445
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Hyperhidrosis, Cardiomegaly, Pulmonary venous hypertensio... ORPHA:1329
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Tachycardia, Hyperinsulinemic hypoglycemi... ORPHA:276608
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Facial edema OMIM:618398
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scaling skin, Elevated circulating hepatic transaminase concentrati... ORPHA:101330
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Ventriculomegaly, Decreased FOXP3-expressing T cell count, Thrombocytope... OMIM:304790
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, Hypoplasia of the thymus, Conotruncal defect, Third d... ORPHA:40366
Isolated Atp Synthase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Hypothyroidism, Hypogonadism, Arrhythmia, Dilated card... ORPHA:254913
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Edema, Erythema OMIM:619183
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no... ORPHA:54251
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophic cardiomyopa... ORPHA:361
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Atelis Syndrome 1
Hypothyroidism, Atrial septal defect, Ventricular septal defect OMIM:620184
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal thalamus morphology ORPHA:467166
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Hereditary Elliptocytosis
Jaundice, Skin ulcer, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged... ORPHA:288
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... ORPHA:3260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly ORPHA:309155
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly ORPHA:85447
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Acute hepatic failure ORPHA:254881
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hep... OMIM:115197
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating hepatic transaminase concentration, Neutropenia, Acute myeloid leukemia, Pan... ORPHA:158057
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Hypothyroidism, Precocious puberty, Obe... ORPHA:254346
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Nasu-Hakola Disease
Irritability, Abnormal adipose tissue morphology, Memory impairment, Frontal lobe dementia, Disin... ORPHA:2770
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Inguinal hernia OMIM:613970
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Bazex Syndrome
Scaling skin, Anemia, Edema ORPHA:166113
Necrotizing Enterocolitis
Bradycardia, Hypotension, Abnormal heart morphology, Cyanosis, Small for gestational age, Shock ORPHA:391673
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Flexion contracture OMIM:619851
Ddost-Cdg
Primary hypothyroidism, Failure to thrive, Lipodystrophy ORPHA:300536
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Anemia, Petechiae, Prolonged neonatal jaundice, Thrombocytopenia, Splen... OMIM:170100
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ecchymosi... ORPHA:88
Aicardi Syndrome
Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Spina bifida, Lateral ve... OMIM:304050
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt... OMIM:300367
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Optic Atrophy 1
Pallor OMIM:165500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Bradycardia OMIM:614498
Cinca Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Sp... ORPHA:1451
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Ascites, Generalized edema, Edema, Thrombocytosis OMIM:226300
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... ORPHA:98850
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia OMIM:618838
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Congenita... ORPHA:363528
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Polyhydramnios, Anemia ORPHA:3405
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Inguinal hernia, Bradycardia OMIM:619272
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Camptodactyly of finger, Hypothyroidism ORPHA:2994
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Predominantly lower limb lymphedema ORPHA:314404
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Decreased body weight, Hypothyroidism, Dorsocervical fat pad, Diabetes mellitus,... ORPHA:391408