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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
Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertriglyceridemia... ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, H... OMIM:615631
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Anemia, Hydrops fetalis, Hydrocephalus, Pallor, Oligohydramnios, Hepatomegaly, Ab... ORPHA:163596
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... OMIM:609698
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor ORPHA:228312
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetal... OMIM:266200
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Bicuspid aortic valve, Failure to thrive, Ventricular e... OMIM:616201
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hepatomegaly, Elevated hepatic... OMIM:615234
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Beta-Thalassemia
Anemia, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal h... ORPHA:848
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... ORPHA:324575
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hyperthyroxinemia, Familial Dysalbuminemic
Increased circulating free T4 concentration, Euthyroid hyperthyroxinemia OMIM:615999
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Failure to thrive, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Failure to thrive, H... ORPHA:71526
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa... ORPHA:507
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Primary Myelofibrosis
Anemia, Petechiae, Purpura, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Pallor, Ecchymosis,... ORPHA:824
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... OMIM:300751
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Cognitive impairment, Increased resting energy expenditure, Polyphagia, Attenti... ORPHA:369873
Fetal Parvovirus Syndrome
Anemia, Hydrops fetalis, Thrombocytopenia, Ascites, Increased nuchal translucency, Intrauterine g... ORPHA:295
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Preeclampsia/Eclampsia 1
Edema, Thrombocytopenia, Elevated hepatic transaminase, Intrauterine growth retardation OMIM:189800
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Hepatomegaly, Pallor OMIM:613561
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Pick Disease Of Brain
Diminished motivation, Frontotemporal dementia, Emotional blunting, Apathy, Polyphagia, Disinhibi... OMIM:172700
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Decreased liver function, Increased HbA2 hem... ORPHA:231222
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly OMIM:611804
Frontotemporal Dementia
Diminished motivation, Frontotemporal dementia, Frontal lobe dementia, Apathy, Dementia, Polyphag... OMIM:600274
Timothy Syndrome
Hypothyroidism, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomeg... OMIM:601005
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Failure to thriv... OMIM:619048
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall... OMIM:300908
Alpha-Thalassemia
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemo... ORPHA:846
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Huntington Disease
Aggressive behavior, Memory impairment, Weight loss, Abnormal circulating cholesterol concentrati... ORPHA:399
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increased mean corpuscular vo... OMIM:613839
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leuk... ORPHA:3226
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Hydrops fetalis, Reticulocytosis, Poikilocytosis, Abnormal e... ORPHA:766
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Edema, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutr... OMIM:603552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Congenital Toxoplasmosis
Anemia, Ventriculomegaly, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lymphadenopathy... ORPHA:858
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... ORPHA:98870
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pallor, Autoimmune thr... ORPHA:1959
Transaldolase Deficiency
Anemia, Hydrops fetalis, Cirrhosis, Premature skin wrinkling, Hepatosplenomegaly, Edema, Thromboc... ORPHA:101028
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Elevated hepatic transa... ORPHA:300298
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Hypothyroidism, Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular... ORPHA:263297
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... ORPHA:226313
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Sp... OMIM:615285
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor ORPHA:98375
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Nephronophthisis
Anemia ORPHA:655
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corp... ORPHA:231226
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Pallor ORPHA:49827
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Pre... ORPHA:216694
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Letterer-Siwe Disease
Anemia, Jaundice, Pallor, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell... ORPHA:331206
Leptin Receptor Deficiency
Aggressive behavior, Emotional lability, Diabetes mellitus, Polyphagia, Abnormal eating behavior,... OMIM:614963
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Edema, Erythema, Decreased liver function, Cholelithiasis, Microcytic anemia ORPHA:79278
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Hypopituitarism, Erythroid hyperplasia, Pallor, Hypoch... OMIM:600462
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Abnormality of the pancreas, Oligohydramnios, Abnormal biliary tract morphology, ... ORPHA:3032
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic cardiomyopathy, ... OMIM:614702
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hyperlysinemia, Type I
Anemia OMIM:238700
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia OMIM:619046
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Anemia, Hydrops fetalis, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:2123
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Impaired sensitivity to thyroid hormone, Omphalocele, Congenital hypot... OMIM:614450
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Tetralogy of Fallot, Abnormality of thyroid physiology OMIM:615542
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Tempi Syndrome
Facial erythema, Increased hematocrit, Polycythemia, Transudative pleural effusion, Ascites ORPHA:284227
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... OMIM:225250
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity ORPHA:318
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Pedal edema, Abnormal mean corpuscular volume, Bone marrow hypocellularit... ORPHA:86839
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613313
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Pearson Marrow-Pancreas Syndrome
Anemia, Hydrops fetalis, Hepatic failure, Reticulocytopenia, Exocrine pancreatic insufficiency, R... OMIM:557000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Cln3 Disease
T-wave inversion, Left ventricular hypertrophy, Increased circulating androgen concentration, Bra... ORPHA:228346
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Dehydration ORPHA:28
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... ORPHA:563
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentrati... OMIM:275100
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Pallor ORPHA:90037
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Dry skin, Lateral ventricle dilatation, Cryptorchidism OMIM:619244
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Gne Myopathy
Hypothyroidism, Cardiomyopathy ORPHA:602
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hemolytic anemia, Edema, Erythema, Cholelithiasis OMIM:177000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Hy... ORPHA:860
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia OMIM:187800
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, ... ORPHA:97279
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Atrial Standstill 2
Dilatation of the ventricular cavity, Scarring, Atrial standstill, Atrial cardiomyopathy, Palpita... OMIM:615745
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor OMIM:616959
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Hepatomegaly, Pallor OMIM:246450
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism OMIM:616113
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... OMIM:603373
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Elevated he... ORPHA:397715
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia OMIM:619302
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... ORPHA:411590
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Gastrointestinal hemorrhage, He... ORPHA:79319
Classic Mycosis Fungoides
Splenomegaly, Skin ulcer, Edema, Lymphadenopathy, Erythema, Hepatomegaly, Dry skin, Abnormal lymp... ORPHA:2584
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Cardi... OMIM:609286
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Hydrops fetalis, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood ce... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Elevated ... OMIM:613154
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Obesity, Polyphagia, Self-mutilation OMIM:616521
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Erythema ORPHA:158014
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive, Atrioventricular block, Joint contracture of the 5th finger, Bra... OMIM:614407
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythrop... OMIM:224120
Hemochromatosis, Type 3
Anemia, Cirrhosis, Purpura, Elevated hepatic transaminase, Lymphopenia, Neutropenia OMIM:604250
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Pallor, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Temple Syndrome
Small for gestational age, Type II diabetes mellitus, Polyphagia, Recurrent hypoglycemia, Obesity ORPHA:254516
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... ORPHA:330001
Sepsis In Premature Infants
Anemia, Petechiae, Jaundice, Purpura, Pallor, Edema, Leukocytosis, Hepatomegaly, Decreased liver ... ORPHA:90051
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Congenital hypothyroidism, Failure to thrive ORPHA:96183
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia ORPHA:90045
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
American Trypanosomiasis
Pallor, Edema, Lymphadenopathy, Hepatomegaly, Periorbital edema, Splenomegaly ORPHA:3386
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Petechiae, Hepatosplenomegaly, Leukocytosis, Extramedulla... OMIM:612840
Focal Segmental Glomerulosclerosis 1
Edema, Anemia OMIM:603278
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... OMIM:613011
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Edema, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytop... ORPHA:158029
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cyanosis, T-wave inversion, Pericardial effusion, Enlarged kidney, ST segment depres... OMIM:261740
Waldenström Macroglobulinemia
Pedal edema, Leukemia, Normocytic anemia, Purpura, Abnormality of neutrophils, Pallor, Pleural ef... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Anemia, Oligohydramnios, Ascites, Splenomegaly ORPHA:1046
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, ... ORPHA:544488
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Fucosidosis
Hypothyroidism, Hyperhidrosis, Lipoatrophy, Acrocyanosis, Failure to thrive, Hepatomegaly, Cardio... ORPHA:349
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Elevated jugular venous pressure, Congestive heart failure, Testicul... ORPHA:465508
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Joint swelling, Ane... OMIM:609628
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Emotional lability, Polyphagia, Insulin-resistant diabetes mellitus, H... ORPHA:179494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
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
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Fumarase Deficiency
Hepatic failure, Choroid plexus cyst, Polycythemia, Pallor, Cholestasis OMIM:606812
Reticular Dysgenesis
Leukopenia, Anemia, Skin ulcer, Abnormality of neutrophils, Dehydration ORPHA:33355
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Flexion contracture, Failure to thrive, Prolonged QT interval, Li... OMIM:613327
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... OMIM:212138
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Tachycardia ORPHA:70587
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... OMIM:615438
Cach Syndrome
Lateral ventricle dilatation, Pancreatitis, T2 hypointense thalamus, Oligohydramnios, Hepatosplen... ORPHA:135
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, T lymphocytopenia, Neoplasm of the pancreas, Elevated hepatic... ORPHA:2959
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia, Lymphedema OMIM:223350
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Dry skin OMIM:618116
Myelofibrosis
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder OMIM:254450
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Anemia ORPHA:329971
Aceruloplasminemia
Hepatic fibrosis, Cirrhosis, Hypochromic microcytic anemia, Abnormal thalamic MRI signal intensit... ORPHA:48818
Malaria
Anemia, Thrombocytopenia ORPHA:673
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia, Happy demeanor ORPHA:411515
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Flexion contracture, Failure to thrive, Diabetes... ORPHA:391372
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Hydrocephalus, Ventriculomegaly, Cryptorchidism ORPHA:500055
Schaaf-Yang Syndrome
Flexion contracture, Camptodactyly, Impulsivity, Polyphagia, Skin-picking, Obesity, Failure to th... OMIM:615547
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Hypopituitarism... ORPHA:90065
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Increased RBC distribution width, Thr... OMIM:314050
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Macrocytic anemia, Dehydration, Hepatomegaly, Thrombocytopenia, Pancreatitis ORPHA:27
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrops fetalis, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutrop... OMIM:616738
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Pallor ORPHA:54028
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Dehydration, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Non-Functioning Pituitary Adenoma
Macroorchidism, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... ORPHA:91349
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pallor, Edema, Acute pancreatitis, T... ORPHA:20
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia, Weight loss OMIM:275000
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hemochromatosis, Type 4
Hepatic steatosis, Anemia, Hepatomegaly, Cirrhosis OMIM:606069
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Li-Campeau Syndrome
Hypothyroidism, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Cholelithiasis, Lateral ventricle dilatation ORPHA:464738
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Oligohydramnios, Edema, Thrombocytopenia, Cholestasis, Hepatomegaly, Cryptorchidism, Decr... OMIM:608104
Wolman Disease
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Omenn Syndrome
Anemia, Edema, Lymphadenopathy, Dry skin, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly,... ORPHA:39041
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Leigh Syndrome With Cardiomyopathy
Decreased liver function, Anemia, Abnormality of thalamus morphology, Ventriculomegaly ORPHA:70474
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Cinca Syndrome
Anemia, Lymphedema, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia OMIM:615986
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Congenital Enterovirus Infection
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Ventriculomegaly, Hepatic failure, Abnormal ... ORPHA:292
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural eff... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Intrauterine growth retardation OMIM:619057
Optic Atrophy 1
Pallor OMIM:165500
Alg8-Cdg
Anemia, Hydrops fetalis, Ventriculomegaly, Cutis laxa, Premature skin wrinkling, Elevated hepatic... ORPHA:79325
Thyroid Dyshormonogenesis 1
Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Wilson Disease
Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... ORPHA:905
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Polyphagia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:66628
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia OMIM:614962
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Anemia, Intrauterine growth retardation, Oligohydramnios OMIM:620135
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Beta-Ketothiolase Deficiency
Pallor, Edema, Thrombocytosis, Leukocytosis, Dehydration, Hepatomegaly ORPHA:134
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Pallor, Bone marrow hypocellularity, Neutr... OMIM:609053
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Complete Atrioventricular Septal Defect
Cyanosis, Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... ORPHA:1329
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Hydrocephalus, ... ORPHA:398124
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration... OMIM:278000
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Communicating hydrocephalus, Decreased th... ORPHA:168577
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Polyphagia, Neonatal hypoglycemia OMIM:606407
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Palpitations, Tachycardia, Goiter OMIM:188580
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Mediastinal lymph... OMIM:614742
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypertension, Abnormality of the endocrine system, Diabetes mellitus, Abnormality... ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth ... OMIM:618835
Potocki-Lupski Syndrome
Hypothyroidism, Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to... OMIM:610883
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia... ORPHA:276608
Transaldolase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Oligohydramnios, Micronodu... OMIM:606003
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth ... OMIM:618839
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Hemophagocytosis, Splenomegaly, Facial edema OMIM:618398
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Decreased circulating follicle stimulating hormone concentration, Anterior pitu... ORPHA:226307
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect OMIM:301058
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Renal Glucosuria
Glycosuria, Polyphagia, Polydipsia OMIM:233100
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... ORPHA:83469
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Attrv30M Amyloidosis
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seizures, Polyphagia, Obesity OMIM:609734
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Acute lymphob... ORPHA:158057
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Abnormal test... ORPHA:54251
Poems Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... ORPHA:2905
Dermatitis Herpetiformis
Erythema, Edema, Skin vesicle, Microcytic anemia ORPHA:1656
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hydrops fetalis, Hemolytic anemia, Elliptocytosis, J... ORPHA:288
Tufted Angioma
Anemia, Thrombocytopenia, Purpura, Petechiae ORPHA:1063
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Porphyria Cutanea Tarda
Periportal fibrosis, Hepatic lobular inflammation, Hepatocellular carcinoma, Abnormal erythrocyte... ORPHA:101330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:289916
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Aa Amyloidosis
Hypotension, Hypothyroidism, Adrenal insufficiency, Enlarged kidney, Abnormal heart morphology, H... ORPHA:85445
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology OMIM:613724
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Hypoplasia of the thymus, Con... ORPHA:40366
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Permanent Congenital Hypothyroidism
Umbilical hernia, Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Edema, Lymphadenopathy, Erythema, Hepatomegaly, Splenomegaly OMIM:619183
Congenital Hypothyroidism
Hypotension, Hypothyroidism, Abnormal pericardium morphology, Hypogonadism, Anterior hypopituitar... ORPHA:442
Tubulinopathy-Associated Dysgyria
Abnormality of thalamus morphology, Ventriculomegaly ORPHA:467166
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Hydrocephalus ORPHA:363717
Nasu-Hakola Disease
Frontal lobe dementia, Irritability, Disinhibition, Abnormal adipose tissue morphology, Memory im... ORPHA:2770
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Enamel hypoplasia, Elevated circulating thyroid-stimulating hormone concentration... OMIM:612462
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Hepatob... OMIM:304050
Isolated Agammaglobulinemia
Anemia, Skin ulcer, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Thrombocyt... ORPHA:229717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration, Thyroid hyper... OMIM:609152
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Congenital Rubella Syndrome
Anemia, Jaundice, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly ORPHA:290
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly ORPHA:309155
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Idiopathic Hypereosinophilic Syndrome
Angioedema, Anemia, Neutrophilia, Elevated hepatic transaminase, Pancreatitis, Portal fibrosis, H... ORPHA:3260
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Oligohydramnios,... ORPHA:71275
Bazex Syndrome
Scaling skin, Anemia, Edema ORPHA:166113
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Hypothyroidism OMIM:613970
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... OMIM:300367
Familial Glucocorticoid Deficiency
Hypotension, Precocious puberty, Decreased circulating aldosterone level, Weight loss, Decreased ... ORPHA:361
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Flexion contracture OMIM:619851
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver ORPHA:69077
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Ventricular septal defect, Atrial septal defect, Aortic regur... ORPHA:254346
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation OMIM:619575
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Purpura, Abnormality of neutrophils, Edema, Lymphadenopa... ORPHA:1451
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Ddost-Cdg
Lipodystrophy, Failure to thrive, Primary hypothyroidism ORPHA:300536
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema, Dilated third ventricle ORPHA:314404
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Ventriculomegaly, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... OMIM:304790
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
B4Galt1-Cdg
Small for gestational age, Hypothyroidism, Splenomegaly, Hepatomegaly ORPHA:79332
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation, Nonimmune hydrops fetalis OMIM:618838
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Frontotemporal dementia, Apathy, Agitation, Polyphagia, Disinhibition, Memory impairment, Progres... OMIM:607485
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Decreased body weight, Hepatomegaly OMIM:607906
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Failure to thrive, Hepatosplenomegaly OMIM:618999
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Anemia, Hydrops fetalis ORPHA:3405
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Bradycardia, Inguinal hernia OMIM:619272
Isolated Right Ventricular Hypoplasia
Cyanosis, Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atriove... ORPHA:439
Duodenal Neuroendocrine Tumor
Hepatic failure, Extrahepatic cholestasis, Increased hematocrit, Elevated hepatic transaminase, I... ORPHA:100076
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Congenital finger flexion contractures, Decreased response to growt... ORPHA:363528
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Bone marrow hypocellularity, Thrombocytopeni... ORPHA:88
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Edema, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Generalized edema OMIM:226300
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Hoyeraal-Hreidarsson Syndrome
Anemia, Ventriculomegaly, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morph... ORPHA:3322
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Delayed puberty ORPHA:2994
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Necrotizing Enterocolitis
Hypotension, Small for gestational age, Shock, Abnormal heart morphology, Bradycardia ORPHA:391673
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Nonimmune hydrops f... ORPHA:124
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes... ORPHA:391408
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:608594
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Enamel hypoplasia, Hypogonadism, Elevated circulating parathyroid hormone level, ... OMIM:103580
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Cryptorchidism, Anemic pallor, Thrombocytopenia, Neutrop... OMIM:600901
Premature Ovarian Failure 10