Not currently registered for phenotyping at IMPC

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

Gene Summary

nuclear receptor co-repressor 1
N-CoR,  Rxrip13,  A230020K14Rik,  5730405M06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Hepatomegaly, Anemia, Splenomegaly, Abnormal he... ORPHA:163596
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Cerebral atrophy, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly, S... OMIM:613839
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Decreased body weight, Pulmonic stenosi... OMIM:616201
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Hypothyroidis... ORPHA:99886
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate produ... OMIM:613673
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Polyphagia, Hyperinsulinemia, Increased adipose tissue, Failure to thrive,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Polyphagia, Hyperinsulinemia, Increased adipose tissue, Failure to thrive,... ORPHA:71526
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Intrauterine g... ORPHA:295
Primary Myelofibrosis
Poikilocytosis, Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, ... ORPHA:824
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Preeclampsia/Eclampsia 1
Thrombocytopenia, Edema, Elevated hepatic transaminase, Intrauterine growth retardation OMIM:189800
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Congenital Toxoplasmosis
Elevated hepatic transaminase, Ventriculomegaly, Thrombocytopenia, Jaundice, Hepatomegaly, Cerebr... ORPHA:858
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomeg... ORPHA:846
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy ORPHA:56425
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Fa... OMIM:619048
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Cardiomegaly, Prolonged QT interval, Patent foramen ov... OMIM:601005
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Cognitive impairment, Memory impairment, Obesity ORPHA:369873
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency OMIM:262700
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Edema, Anemia, Splenomeg... OMIM:603552
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior, Polyphagia, Obesity ORPHA:329249
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Lymphedema, Thrombocytopenia, Hepatomegaly, Abnormal n... ORPHA:3226
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Pick Disease Of Brain
Emotional blunting, Polyphagia, Apathy, Diminished motivation, Frontotemporal dementia, Irritability OMIM:172700
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Premature skin wrinkling, Thrombocytopenia, Edema, Anemia, Hepatosple... ORPHA:101028
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Frontotemporal Dementia
Polyphagia, Apathy, Diminished motivation, Frontotemporal dementia, Irritability, Frontal lobe de... OMIM:600274
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Huntington Disease
Choking episodes, Decreased body mass index, Mental deterioration, Aggressive behavior, Polyphagi... ORPHA:399
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased m... ORPHA:98870
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly, Obesity ORPHA:88643
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia, Microcephaly, Bone marrow hypocellularity OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Hypoketotic hypoglycemia, Incre... ORPHA:276556
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, U... ORPHA:95717
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Microcephaly ORPHA:169079
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:98375
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Edema ORPHA:79278
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Pallor ORPHA:49827
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Anemia ORPHA:655
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion o... ORPHA:331206
Neutropenia, Anemia, Splenomegaly OMIM:602079
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Abnormal cerebral white matter morphology, Hepatomegaly, Anemia, Microcephaly, Pallor OMIM:246450
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Fumarase Deficiency
Agenesis of corpus callosum, Choroid plexus cyst, Polycythemia, Cerebral atrophy, Cholestasis, Po... OMIM:606812
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Anemia, Microcephaly, Leukemia OMIM:614082
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Obesity, Decreased QR... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Focal T2 hyperintense thalamic lesion, Macrocytic anemia OMIM:619046
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia ORPHA:2123
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Abnormality of the pancreas, Abnormal biliary tract morphology, ... ORPHA:3032
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Abnormal eating behavior, Diabetes mellitus, Obesity OMIM:614963
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Ascites, Transudative pleural effusion ORPHA:284227
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Elevated hepatic transaminase, Absent septum pellucidum, Ventriculomegaly, Dandy-... ORPHA:397715
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Erythema, Edema, Hepatic failure OMIM:177000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Bilateral cryptorchidism, Dysplastic corpus callosum, Increased nuchal translucen... ORPHA:544488
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Anemia ORPHA:28
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Cerebral calcification, Pallor, Eosinophilia ORPHA:90045
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Microcephaly, Bone marrow hypocellularity, Dry skin OMIM:618116
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Hyperthyroidism, Familial Gestational
Tachycardia, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Pedal edema, Thrombocytopenia, Acute myeloid leukemia, Anemia of ina... ORPHA:86839
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Mi... OMIM:615438
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Anemia, Simplified gyral pattern, Agenesis ... OMIM:619302
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Atrial septal defect, Hyperinsu... OMIM:619326
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal cerebral white matter morphology, Neutropenia, Pancytopen... OMIM:159550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Anemia, Splenomegaly, Microcephaly ORPHA:1046
Gne Myopathy
Hypothyroidism, Cardiomyopathy ORPHA:602
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test OMIM:616784
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Polyphagia, Nonketotic... ORPHA:97279
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Atrial arrhythmia, Absent P wav... OMIM:615745
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Lipodystrophy, Atrial fibrillation, Hepatomegaly, Tachycar... OMIM:613327
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Anemia OMIM:604250
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Polyphagia, Obesity OMIM:609734
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism OMIM:616113
Wolfram-Like Syndrome
Male hypogonadism, Hypothyroidism, Delayed puberty, Diabetes mellitus, Central diabetes insipidus... ORPHA:411590
Retinitis Pigmentosa 42
Pallor OMIM:612943
Bone Marrow Failure Syndrome 5
Microcephaly, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradycardia, Cardi... OMIM:609286
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Erythema, Hepatomegaly, Edema, Skin ulcer, Splenomegaly, Lymphade... ORPHA:2584
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
16P13.2 Microdeletion Syndrome
Cryptorchidism, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegal... ORPHA:500055
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Thrombocytopenia, Anemia, Microcephaly, Diffuse cerebral atrophy OMIM:614946
Hypochromic anemia, Abnormality of the liver OMIM:209300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly, Pallor ORPHA:90033
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Progressive microcephaly, Anemia OMIM:610090
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism, Hamstring contractures, Failure to thrive ORPHA:96183
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Erythema ORPHA:158014
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, E... OMIM:615980
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Hypothyroidism, Failure to thrive ORPHA:2118
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Retinitis Pigmentosa 60
Pallor OMIM:613983
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepato... OMIM:612840
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc... ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Retinitis Pigmentosa 81
Pallor OMIM:617871
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Acrocyanosis, Hypothyroidism, Lipoatrophy, Hepatomegaly, Hyperhidrosis, Cardiomegaly, Failure to ... ORPHA:349
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastin... ORPHA:158029
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Atrioventricular block, Failure to thrive, Bra... OMIM:614407
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Majeed Syndrome
Joint swelling, Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decrea... OMIM:609628
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Cholelithiasis, Dil... ORPHA:464738
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, T lymphocytopenia, Elevated hepatic transaminase, Microcytic ... ORPHA:2959
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Decreased proportion ... OMIM:613011
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Hypothyroidism, Elevated jugular venous pressure, Weight loss, Hepatomegaly, Decrease... ORPHA:465508
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity OMIM:248100
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Acute pancreatitis, Hepatomegaly, Ja... ORPHA:20
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
American Trypanosomiasis
Hepatomegaly, Edema, Splenomegaly, Periorbital edema, Pallor, Lymphadenopathy ORPHA:3386
Temple Syndrome
Polyphagia, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia, Obesity ORPHA:254516
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Sepsis In Premature Infants
Purpura, Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver fun... ORPHA:90051
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Focal Segmental Glomerulosclerosis 1
Edema, Anemia OMIM:603278
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Gaucher Disease, Type Ii
Cerebral atrophy, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Optic Atrophy 9
Pallor OMIM:616289
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity ORPHA:529799
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Cerebral atrophy, Pancytopenia, Thrombocytopenia, Hepat... OMIM:259720
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Waldenström Macroglobulinemia
Purpura, Abnormality of neutrophils, Pleural effusion, Pedal edema, Normocytic anemia, Hepatomega... ORPHA:33226
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Anemia, Leukopenia, Skin ulcer ORPHA:33355
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Stomatocytosis, Cerebral white matter hypoplasia, Intracerebral peri... ORPHA:168577
Cach Syndrome
T2 hypointense thalamus, Oligohydramnios, Cerebral atrophy, Pancreatitis, Intrauterine growth ret... ORPHA:135
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Increased body weight, Tachycardi... ORPHA:276608
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Abnormal heart morphology, Hypothyroidism, Flexion contracture, Failure to thrive, Pu... ORPHA:391372
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Hypoxemia, Cyanosis, Bradycardia ORPHA:70587
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Erythema, Hepatomegaly, Basal ganglia calcification, Edema, Splenome... OMIM:619183
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Bradycardia OMIM:614498
Mastocytosis, Cutaneous
Erythema, Edema, Cutaneous mastocytosis OMIM:154800
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Leukopenia, Pancreatitis, Macrocytic anemia ORPHA:27
Peripheral Cone Dystrophy
Pallor OMIM:609021
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Hydrocephalus, Abnormal cerebral white matter mo... ORPHA:398124
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hypertension, Myocardial... ORPHA:90065
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia, Obesity OMIM:614962
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Pituitary... ORPHA:95613
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Emotional lability, Hypertrigl... ORPHA:179494
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Anemia ORPHA:329971
Thrombocytopenia 5
Thrombocytopenia, Petechiae, Neutropenia, Anemia OMIM:616216
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimuation test OMIM:618347
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Hypothyroidism, Camptodactyly, Hepatomegaly, Failure to thrive, Abnorm... OMIM:608104
Sheehan Syndrome
Panhypopituitarism, Palpitations, Adrenocorticotropin deficient adrenal insufficiency, Orthostati... ORPHA:91355
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Hepatom... OMIM:212138
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Thrombocytopenia, Anemia ORPHA:673
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Neutropenia, Pallor, Intrauterine growth r... OMIM:609053
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, An... OMIM:616738
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Hypothyroidism, Situs inversus totalis, Goiter OMIM:617577
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Hypochromic microcytic anemia, Abnormal thalamic MRI signal intensity, Abnormal pancreas morpholo... ORPHA:48818
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Dilation of lateral ventr... OMIM:304050
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu... ORPHA:905
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:613239
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:188580
Cinca Syndrome
Leukocytosis, Lymphedema, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Anemia ORPHA:2598
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Edema, Anemia, Splen... ORPHA:39041
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia, Happy demeanor ORPHA:411515
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplastic anemia, Bone... ORPHA:447
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Dohle Bodies And Leukemia
Lymphedema, Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy, Predominant... ORPHA:314404
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Graves Disease, Susceptibility To, 1
Irritability, Polyphagia, Weight loss OMIM:275000
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Fanconi Anemia, Complementation Group V
Neutropenia, Thrombocytopenia, Anemia, Microcephaly, Bone marrow hypocellularity OMIM:617243
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Intrauterine growth retardation, ... ORPHA:290
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy OMIM:613724
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Cerebral calcification, Anemia, Splenomegaly ORPHA:2785
Thyroid agenesis, Hypothyroidism ORPHA:95713
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism OMIM:618625
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Oligohydramnios, Pancytopenia, Thrombocytopenia, Hepatic fibro... OMIM:606003
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Lipodystrophy, Atri... ORPHA:300751
Optic Atrophy 1
Pallor OMIM:165500
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Li-Campeau Syndrome
Patent foramen ovale, Hypothyroidism, Atrial septal defect, Ventricular septal defect OMIM:619189
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly, Excessive wrinkled skin, Thrombocytopenia, Cerebral cortical atrophy, Cerebral ... ORPHA:3322
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Neonatal hypoglycemia, Failure to thrive OMIM:606407
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly, Dehydration, Edema, Pallor ORPHA:134
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia, Intrauterine growth ... OMIM:618835
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia, Intrauterine growth ... OMIM:618839
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Pancytopenia, Aplastic anemia, Anemia, Mediastinal lymphadenopathy, ... OMIM:614742
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Poems Syndrome
Acrocyanosis, Primary adrenal insufficiency, Hypothyroidism, Pericardial effusion, Visceromegaly,... ORPHA:2905
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Microcephaly, Bone marrow hypocellu... OMIM:619151
Dermatitis Herpetiformis
Erythema, Skin vesicle, Edema, Microcytic anemia ORPHA:1656
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Facial edema, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormal testis morphology, Liver abscess, Abnormality of the panc... ORPHA:54251
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Obesity ORPHA:66628
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Nonimmune hyd... OMIM:266200
Aa Amyloidosis
Abnormal heart morphology, Enlarged kidney, Hypothyroidism, Hypotension, Hepatomegaly, Adrenal in... ORPHA:85445
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis OMIM:255900
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema, Edema, Stillbirth OMIM:152800
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Atrioventricular canal defect, Bra... ORPHA:40366
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter, Small for gestational age OMIM:274300
Congenital Hypothyroidism
Arrhythmia, Goiter, Hypotension, Hypothyroidism, Abnormal pericardium morphology, Umbilical herni... ORPHA:442
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Petechiae, Splenomegaly OMIM:314050
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter, Umbilical hernia ORPHA:226292
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hor... OMIM:612462
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Petechiae, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Hyperthyroidism, Nonautoimmune
Goiter, Small for gestational age, Tachycardia, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Bazex Syndrome
Scaling skin, Edema, Anemia ORPHA:166113
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Umbilical hernia, Abnormality of thyroid physiology, Reduced radi... ORPHA:95715
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Familial Glucocorticoid Deficiency
Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroepiandroster... ORPHA:361
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Retinitis Pigmentosa 70
Pallor OMIM:615922
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellulari... ORPHA:88
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Wells Syndrome
Skin vesicle, Edema, Eosinophilia ORPHA:901
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Failure to thrive OMIM:618999
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Fanconi Anemia, Complementation Group E
Anemic pallor, Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, An... OMIM:600901
Hyperlysinemia, Type I
Anemia OMIM:238700
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Potocki-Lupski Syndrome
Atrial septal defect, Hypothyroidism, Small for gestational age, Failure to thrive, Patent forame... OMIM:610883
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Senior-Loken Syndrome 1
Anemia OMIM:266900
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly,... ORPHA:1451
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Ventriculomegaly, Neutropenia, Lym... OMIM:304790
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous... ORPHA:229717
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hemophagocytosis, Elevated hepatic transaminase, Purpura, Abnormal cerebral white mat... ORPHA:540
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Fanconi Anemia, Complementation Group C
Anemic pallor, Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, An... OMIM:227645
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia OMIM:618838
Fanconi Anemia, Complementation Group A
Anemic pallor, Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, An... OMIM:227650
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty, Camptodactyly of finger ORPHA:2994
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism, Omphalocele, Umbilical hernia OMIM:275100
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Elevated hepatic transaminase, Joint swelling, Leukocytosis, Pleural effusion, Ge... ORPHA:3260
Hemochromatosis, Type 4
Anemia OMIM:606069
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Microcephaly OMIM:250800
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hor... OMIM:103580
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect OMIM:301058
19P13.12 Microdeletion Syndrome
Atrial septal defect, Arthrogryposis multiplex congenita, Arrhythmia, Aortic regurgitation, Ventr... ORPHA:254346
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Anemia ORPHA:3405
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Elevated circulating growth hormone concentration, ... ORPHA:100076
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Small for gestational age, Shock, Bradycardia ORPHA:391673
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Delayed puberty, Small for gestational age, Dorsocervical ... ORPHA:391408
Failure to thrive, Lipodystrophy, Primary hypothyroidism ORPHA:300536
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Failure to thrive OMIM:619272
Pituitary Hormone Deficiency, Combined, 1
Hypothyroidism OMIM:613038
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Early-Onset Schizophrenia
Polyphagia, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional labilit... ORPHA:96369
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Dilate... OMIM:619306
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Biliar... OMIM:156810
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Small for gestational age, Bradycardia, Hypertro... OMIM:618775
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Klippel-Trénaunay Syndrome
Hydrops fetalis, Microcytic anemia, Hepatomegaly, Edema, Ascites, Microcephaly ORPHA:90308
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Prolidase Deficiency
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Petechiae, Anemia, Ele... OMIM:170100
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Hypothyroidism OMIM:251900
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Purpura, Ventriculomegaly, Thrombocytopenia, Hepatomegaly, Petechiae, Ascites, An... OMIM:608013
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Cerebral vasculitis, Goiter, Hashimoto thyroiditis ORPHA:83601
Lig4 Syndrome
Hypothyroidism, Telangiectasia, Failure to thrive OMIM:606593
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Anemia, Microcephaly OMIM:266920
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Hyperhidrosis, Tachycardia, Bradycardia OMIM:614653
Gaucher Disease Type 1
Cirrhosis, Pericardial effusion, Pedal edema, Biliary tract obstruction, Pancytopenia, Thrombocyt... ORPHA:77259
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal periventricular white matter morpho... OMIM:615838
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Senior-Loken Syndrome 4
Anemia OMIM:606996
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Congestive heart failure, Cardiomegaly, Atrial flutter OMIM:300886
Abnormal third ventricle morphology, Dilation of lateral ventricles