Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ncor1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Pallor, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, 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
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hy... OMIM:615234
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Polyphagia, Type II diabetes mellitus, Child... ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticu... OMIM:615631
Hb Bart'S Hydrops Fetalis
Pallor, Hydrops fetalis, Splenomegaly, Hepatomegaly, Anemia, Polyhydramnios, Hydrocephalus, Abnor... ORPHA:163596
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Pallor, Thro... ORPHA:75564
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Cerebral atrophy, Megaloblastic anemia, Hepatomegaly, Jaundice, Secondary microceph... OMIM:613839
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Abnormal heart morphology, Fail... ORPHA:99886
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Pallor, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnorma... ORPHA:848
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Hyperlysinemia, Type I
Anemia OMIM:238700
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hyperthyroxinemia, Familial Dysalbuminemic
Increased circulating free T4 level, Euthyroid hyperthyroxinemia OMIM:615999
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Leukocytosis, Ecchymosis, Portal hypertension, Throm... ORPHA:824
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Obesity, Increased adipose tissue, Failure to thrive, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Obesity, Increased adipose tissue, Failure to thrive, Ch... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Microcephaly, E... OMIM:600462
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Flexion contracture, Ventricular tachycardia, ... ORPHA:1344
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Anemia, Increased nuchal translucency, Ascites,... ORPHA:295
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Edema, Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Bradycardia, Congenital h... ORPHA:95716
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concent... OMIM:194380
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Congenital Toxoplasmosis
Cerebral calcification, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Jaundic... ORPHA:858
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Pallor ORPHA:56425
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Failure to thrive, Ventricular hypertrophy, Bradycardia, ... OMIM:619048
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Hydrops fetalis, Splenomegaly, Jaundice, Anemia, Hemolytic ane... ORPHA:846
Timothy Syndrome
Tetralogy of Fallot, Hypothyroidism, Patent foramen ovale, Prolonged QT interval, Ventricular sep... OMIM:601005
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Obesity, Polyphagia, Glucose intolerance ORPHA:369873
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Pallor, Cirrhosis, Sp... ORPHA:231222
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Pick Disease Of Brain
Emotional blunting, Apathy, Irritability, Polyphagia, Frontotemporal dementia, Diminished motivation OMIM:172700
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Pallor, Anisocytosis, Splenomegaly, Heinz bodie... OMIM:300908
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prol... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Ede... OMIM:603552
Hereditary Spherocytosis
Cholelithiasis, Pallor, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundi... ORPHA:822
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Leukoence... OMIM:619244
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Elevated hepatic transaminase, Abnormal ... ORPHA:98870
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume OMIM:611590
Transaldolase Deficiency
Hepatosplenomegaly, Hydrops fetalis, Anemia, Premature skin wrinkling, Cirrhosis, Edema, Thromboc... ORPHA:101028
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Evans Syndrome
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jaundice, Neutropenia in pre... ORPHA:1959
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Huntington Disease
Suicidal ideation, Choking episodes, Memory impairment, Anxiety, Oral-pharyngeal dysphagia, Menta... ORPHA:399
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Pallor, Anemia, Elevated hepatic iron concentration, Elevated hepatic transam... ORPHA:300298
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Frontotemporal Dementia
Apathy, Irritability, Polyphagia, Frontal lobe dementia, Frontotemporal dementia, Diminished moti... OMIM:600274
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276575
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Hydrops Fetalis, Nonimmune
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Decreased circulatin... ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Hydrops fetalis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythro... OMIM:224120
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Bradycardia, Congenital hypothyroidism, Decreased circulating T4 level... ORPHA:226313
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:98375
Bone Marrow Failure Syndrome 2
Leukopenia, Bone marrow hypocellularity, Microcephaly, Anemia, Thrombocytopenia OMIM:615715
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Microcephaly, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, Decreased plasma carniti... ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Idiopathic Congenital Hypothyroidism
Bradycardia, Decreased circulating T4 level, Umbilical hernia, Elevated circulating thyroid-stimu... ORPHA:95717
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Beta-Thalassemia Major
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Cirrhosis, Hypop... ORPHA:231214
Dominant Beta-Thalassemia
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Cirrhosis, Hypop... ORPHA:231226
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Cirrhosis, Edema ORPHA:79278
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Nephronophthisis
Anemia ORPHA:655
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Pallor, Lymphaden... ORPHA:331206
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Pallor, Thrombocytopenia OMIM:246400
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Increased red blood cell count, Abnormal hemoglobi... ORPHA:2133
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Microcephaly, Anemia, Pallor, Abnormal cerebral white matter morphology OMIM:246450
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Hepatomegaly, Anemia, Polyhydramnios, Ascites, Thrombocytopenia ORPHA:2123
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Omphal... OMIM:614450
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia OMIM:619046
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Fumarase Deficiency
Cerebral atrophy, Hepatic failure, Agenesis of corpus callosum, Choroid plexus cyst, Cholestasis,... OMIM:606812
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Dandy-Walker malformation, Polyhy... ORPHA:3032
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Microcephaly, Thrombocytopenia OMIM:614082
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Tempi Syndrome
Transudative pleural effusion, Polycythemia, Increased hematocrit, Facial erythema, Ascites ORPHA:284227
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Pallor, Megaloblastic anemia, Abnormal hemo... ORPHA:35858
Aregenerative Anemia
Pancytopenia, Pallor, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T ... ORPHA:101096
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occipital en... ORPHA:397715
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Leptin Receptor Deficiency
Obesity, Aggressive behavior, Diabetes mellitus, Polyphagia, Abnormal eating behavior OMIM:614963
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Cerebral calcification, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia, Edema OMIM:177000
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Polyhydramnio... OMIM:617296
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Chronic neutropenia, Partial agenesis of the corpus callosum, Simpli... OMIM:619302
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Anemia, Hepatomegaly ORPHA:28
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Microcephaly, Anemia, Acute hepatic failure, Elevated hepatic tr... OMIM:615438
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Pallor, Panhypopituitarism, Increased ... ORPHA:95512
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Microcephaly, Anemia, Polyhydramnios, Ascites, Oligohydramnios ORPHA:1046
Gne Myopathy
Hypothyroidism, Cardiomyopathy ORPHA:602
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Bleeding Disorder, Platelet-Type, 16
Petechiae, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Progressive microcephaly OMIM:610090
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Dilatation of the ventricular cavity, Atri... OMIM:615745
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Microcephaly, Anemia, Thrombocytopenia, Dry skin OMIM:618116
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Anxiety, Reactive hypoglycemia... ORPHA:97279
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hypoglycemic seizures, Obesity, Hyperbilirubinemia OMIM:609734
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Retinitis Pigmentosa 42
Pallor OMIM:612943
Bone Marrow Failure Syndrome 5
Microcephaly, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Failure to thri... OMIM:613327
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism OMIM:616113
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Dia... ORPHA:411590
16P13.2 Microdeletion Syndrome
Hydrocephalus, Cryptorchidism, Dilated third ventricle, Cerebral white matter atrophy, Ventriculo... ORPHA:500055
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Pallor, Chronic lymphatic leukemia ORPHA:90033
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Abnormality of the thyroid gland, Cardiomyopathy, Diabetes mellitus, Bradycardia, Hyp... OMIM:609286
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Atransferrinemia
Hypochromic anemia, Abnormality of the liver OMIM:209300
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Erythema, Splenomegaly, Hepatomegaly, Lymphadenopathy, Skin ulcer... ORPHA:2584
Hyperthyroidism, Familial Gestational
Tachycardia, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating ... OMIM:603373
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Ventriculomegaly, Microcephaly, Anemia, Diffuse cerebral atrophy, Thrombocytopenia OMIM:614946
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Mpi-Cdg
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive... ORPHA:79319
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Elevated hepatic transaminase, Cirrhosis, Purpura OMIM:604250
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal globus pallidus morphology, ... ORPHA:70474
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Failure to thrive, Congenital hypothyroidism ORPHA:96183
Rosaï-Dorfman Disease
Anemia, Erythema, Lymphadenopathy ORPHA:158014
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Self-mutilation, Aggressive behavior OMIM:616521
Retinitis Pigmentosa 60
Pallor OMIM:613983
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Hawkinsinuria
Failure to thrive, Hypothyroidism ORPHA:2118
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Fucosidosis
Hypothyroidism, Hepatomegaly, Lipoatrophy, Failure to thrive, Acrocyanosis, Cardiomegaly, Hyperhi... ORPHA:349
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Elevated jugular venous press... ORPHA:465508
Retinitis Pigmentosa 81
Pallor OMIM:617871
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Microcephaly, Abnormality of thalamus mo... ORPHA:2959
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia ORPHA:254516
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of t... OMIM:612840
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Failure to thrive, Atrioventricular block, Bradycardia, Acro... OMIM:614407
Cach Syndrome
Cerebral atrophy, Hepatosplenomegaly, Intrauterine growth retardation, T2 hypointense thalamus, D... ORPHA:135
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated t... ORPHA:464738
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Edema, Thrombocytopenia, Sea-... ORPHA:158029
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Focal Segmental Glomerulosclerosis 1
Anemia, Edema OMIM:603278
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Joint swelling, Erythroid hyperplasia, Decreased mean corp... OMIM:609628
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Pallor, Thrombocytosis, Lipid accumulation in hepat... ORPHA:20
Sepsis In Premature Infants
Petechiae, Leukocytosis, Purpura, Splenomegaly, Decreased liver function, Jaundice, Hepatomegaly,... ORPHA:90051
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Periorbital edema, Lymphadenopathy, Pallor, Edema ORPHA:3386
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529799
Idiopathic Pulmonary Hemosiderosis
Pallor, Iron deficiency anemia, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Splenomegaly, Pleural effusion, Hepatomegaly, Abnormality of neutrop... ORPHA:33226
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Anemia, Dehydration, Skin ulcer ORPHA:33355
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Hypoxemia, Hypotension, Bradycardia, Tachycardia ORPHA:70587
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Alg8-Cdg
Intrauterine growth retardation, Ascites, Hydrops fetalis, Ventriculomegaly, Cutis laxa, Anemia, ... ORPHA:79325
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Optic Atrophy 9
Pallor OMIM:616289
Gaucher Disease, Type Ii
Cerebral atrophy, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:230900
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Flexion contracture, Overweight, Pulmonary arterial hypertension, Abnormal heart ... ORPHA:391372
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Hyp... OMIM:619072
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Emotional lability, Hypertriglyce... ORPHA:179494
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Bradycardia, Flexion contracture OMIM:614498
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hepatosplenomegaly, Jaundice, Microcephaly, Decreased thalamic volum... ORPHA:168577
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Hepatomegaly, Anemia, Macrocytic anemia, Dehydration, Thrombocytopenia ORPHA:27
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Hepatomegaly, Abnormal heart morphology, Failure to thrive, Camptodactyly, Abnorm... OMIM:608104
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Hepatome... OMIM:212138
Peripheral Cone Dystrophy
Pallor OMIM:609021
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Myelofibrosis
Pallor, Myeloproliferative disorder, Splenomegaly, Purpura OMIM:254450
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity, Abnormal eating behavior OMIM:614962
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Erythema, Splenomegaly, Hepatomegaly, Lymphadenopathy, Basal ganglia... OMIM:619183
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Anemia, Lymphedema, Edema, Pericardial effusion, Pulmona... OMIM:617300
Malaria
Anemia, Thrombocytopenia ORPHA:673
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Elevated circul... ORPHA:95613
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thrombocytopenia 5
Neutropenia, Anemia, Petechiae, Thrombocytopenia OMIM:616216
Mastocytosis, Cutaneous
Erythema, Edema, Cutaneous mastocytosis OMIM:154800
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Congestive heart failure, Hypopituitarism, Cerebral hemorrhage, ST segment depres... ORPHA:90065
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Plummer-Vinson Syndrome
Pallor, Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Dehydration, Thrombocytopenia ORPHA:79312
Non-Functioning Pituitary Adenoma
Central diabetes insipidus, Female hypogonadism, Panhypopituitarism, Hypopituitarism, Anterior hy... ORPHA:91349
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostati... ORPHA:91355
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Thrombocytopenia, Neutropenia, Anemia, Hydrocele testis, Congenital thrombocytop... OMIM:616738
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis OMIM:617577
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retardation, Bone marrow hypocellu... OMIM:609053
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Dohle Bodies And Leukemia
Anemia, Lymphedema, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration, Abnormal thalamic MRI signal i... ORPHA:48818
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Familial Focal Epilepsy With Variable Foci
Pallor, Polymicrogyria, Focal cortical dysplasia, Hemimegalencephaly ORPHA:98820
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Happy demeanor, Obesity ORPHA:411515
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Hydrops f... ORPHA:292
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy OMIM:606353
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphedema, Lymphadenopathy OMIM:607115
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Anemia ORPHA:2598
Aicardi Syndrome
Hepatoblastoma, Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Microcepha... OMIM:304050
Graves Disease, Susceptibility To, 1
Polyphagia, Irritability, Weight loss OMIM:275000
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Anemia, Microcephaly, Thrombocytopenia OMIM:617243
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Umbilical hernia OMIM:274400
Li-Campeau Syndrome
Atrial septal defect, Hypothyroidism, Ventricular septal defect, Patent foramen ovale OMIM:619189
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Hypothyroidism ORPHA:2349
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Jaundice, Microcephaly, Anemia, Thro... ORPHA:290
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Predominantly lower limb lymphedema, Dilated third ventricle, Abnormal cerebral... ORPHA:314404
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Optic Atrophy 1
Pallor OMIM:165500
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism OMIM:618625
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Elevated... OMIM:278000
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Tachycardia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia ORPHA:66628
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Palpitations, Goiter, Tachycardia, Weight loss OMIM:613239
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Palpitations, Goiter, Tachycardia, Weight loss OMIM:188580
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Dehydration, Hepatomegaly, Pallor, Edema ORPHA:134
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the thyroid gland, Obesity, Hypertension, Diabetes mellitus, Abnor... ORPHA:77296
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, P... OMIM:615547
Hoyeraal-Hreidarsson Syndrome
Cerebral calcification, Intrauterine growth retardation, Bone marrow hypocellularity, Ventriculom... ORPHA:3322
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Decreased liver ... OMIM:606003
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Microcephaly, Anemia, Thrombocyt... OMIM:619151
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Hepatic steatosis, Acute pancreatitis, Hepatosplenomega... OMIM:619487
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Lymphadenopathy, Abnormality of the ... ORPHA:83469
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Facial erythema, Hypoplasi... ORPHA:439218
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Cholecystitis, Nonimmune hydrops fetalis, Spleno... OMIM:266200
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Poems Syndrome
Lipodystrophy, Hypothyroidism, Primary adrenal insufficiency, Visceromegaly, Increased circulatin... ORPHA:2905
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Anemia, Elevated hepatic t... ORPHA:54251
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Bone marrow hypocellularity, Anemia, Myeloid leukemia, Aplastic anemia, Cirrhosis, ... OMIM:614742
Hereditary Elliptocytosis
Cholelithiasis, Hydrops fetalis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaund... ORPHA:288
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Nonimmune hydrops fetalis, Decreased liver function, Anemia, Neo... OMIM:618835
Potocki-Lupski Syndrome
Hypothyroidism, Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to... OMIM:610883
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Splenomegaly, Anemia, Facial edema OMIM:618398
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Nonimmune hydrops fetalis, Decreased liver function, Anemia, Neo... OMIM:618839
Dermatitis Herpetiformis
Microcytic anemia, Erythema, Edema, Skin vesicle ORPHA:1656
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Left ventricular outflow tract obstruction, Cardiac amyloidosi... ORPHA:439232
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Cutaneous abscess, Chronic hepatitis, Po... ORPHA:101330
Aa Amyloidosis
Adrenal insufficiency, Enlarged kidney, Hypothyroidism, Hypotension, Hepatomegaly, Abnormal heart... ORPHA:85445
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Myxedema
Goiter, Hypothyroidism, Hypohidrosis, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone, Small for gestational age OMIM:274300
Tufted Angioma
Purpura, Anemia, Petechiae, Thrombocytopenia ORPHA:1063
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Acitretin/Etretinate Embryopathy
Conotruncal defect, Third degree atrioventricular block, Atrioventricular canal defect, Bradycard... ORPHA:40366
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Renal Glucosuria
Glycosuria, Polydipsia, Polyphagia OMIM:233100
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Arrhythmia, Abnormality of the thyroid gland, Th... ORPHA:442
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Elevated circulating parath... OMIM:612462
Retinitis Pigmentosa 70
Pallor OMIM:615922
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia ORPHA:226292
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Weight loss ORPHA:85447
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Lymphangiectasia, Intestinal
Pedal edema, Lymphopenia, Stillbirth, Edema OMIM:152800
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Lipodystrophy, Atrial flutter, Abnormal l... ORPHA:300751
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Abnormality of neutrophils... ORPHA:229717
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia... ORPHA:300570
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cerebral atrophy, Hydrocephalus, Hepatic failure, Leukocytosis, Splenomegaly, Ventr... OMIM:259720
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... ORPHA:361
Blackfan-Diamond Anemia
Leukopenia, Pallor, Thrombocytosis, Nonimmune hydrops fetalis, Erythroid hypoplasia, Acute myeloi... ORPHA:124
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Th... ORPHA:88
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, P... OMIM:618775
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Leukemia, Cryptorchidism, Neutropenia, Anemia, Microcephaly, Reticul... OMIM:600901
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Bazex Syndrome
Anemia, Edema, Scaling skin ORPHA:166113
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Rhabdoid Tumor
Anemia, Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver ORPHA:69077
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Ecchymosis, Hemophagocytosis, Purpura, Splenomegaly, Decreased liver function, Jaundic... ORPHA:540
Alstrom Syndrome
Dilated cardiomyopathy, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Congestive heart fa... OMIM:203800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Wells Syndrome
Eosinophilia, Edema, Skin vesicle ORPHA:901
Senior-Loken Syndrome 1
Anemia OMIM:266900
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Ventriculomegaly, Ne... OMIM:304790
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Bradycardia, Thyroid agenesis, Congenital hypothyroidism, Elevated circulating th... OMIM:218700
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Leukemia, Intrauterine growth retardation, Bone marrow hypocellulari... OMIM:227645
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Leukemia, Cryptorchidism, Neutropenia, Anemia, Microcephaly, Reticul... OMIM:227650
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hepatosplenomegaly, Hypothyroidism OMIM:618999
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Angioedema, Cholangitis, Thrombocytosis, Chronic ... ORPHA:3260
19P13.12 Microdeletion Syndrome
Hypothyroidism, Aortic regurgitation, Arrhythmia, Atrial septal defect, Obesity, Precocious puber... ORPHA:254346
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Accessory spleen, Dilate... OMIM:619306
Ddost-Cdg
Lipodystrophy, Failure to thrive, Primary hypothyroidism ORPHA:300536
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability... ORPHA:96369
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Delayed puberty ORPHA:2994
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Hypothyroidism OMIM:301058
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Elevated circulating parath... OMIM:103580
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Absent gallbladder, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Duodenal Neuroendocrine Tumor
Hepatic failure, Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Elevated ... ORPHA:100076
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Congenital hypothyroidism OMIM:275100
Thyroid Lymphoma
Goiter, Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Methemoglobinemia, Polycythemia OMIM:250800
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Polyhydramnios, Hydrops fetalis ORPHA:3405
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Intrauterine growth retardation, Anisocytosis, Jaundice, S... ORPHA:71275
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, P... OMIM:603471
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:618838
Necrotizing Enterocolitis
Small for gestational age, Hypotension, Abnormal heart morphology, Bradycardia, Shock ORPHA:391673
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes... ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Failure to thrive, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatosplenomegaly, Intrauterine growth retardation, Hepatic failure, Purpura, Nonimmu... OMIM:608013
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism OMIM:613038
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Spontaneous Periodic Hypothermia
Aplasia/Hypoplasia of the corpus callosum, Pallor ORPHA:29822
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperthyroidism, Tachycardia, Goiter, Thyroid hyperplasia OMIM:609152
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Hepatomegaly OMIM:251900
Spherocytosis, Type 2