Gene Summary

Name:
far upstream element (FUSE) binding protein 1
Synonyms:
FBP,  9530027K12Rik,  Fubp,  Fubp4

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Fubp1em1(IMPC)Mbp HET Early adult 7.65×10-08
enlarged lymph nodes Fubp1em1(IMPC)Mbp HET Early adult 0.00
decreased locomotor activity Fubp1em1(IMPC)Mbp HET Early adult 1.32×10-05
abnormal lymph node morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
decreased anxiety-related response Fubp1em1(IMPC)Mbp HET Early adult 8.73×10-08
abnormal behavior Fubp1em1(IMPC)Mbp HET Early adult 1.00×10-07
abnormal skin morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Fubp1em1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Fubp1 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 Fubp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension, Intrauterine growth retard... OMIM:619003
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Short ... OMIM:615631
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Cerebellar atrophy, Intrauterine ... ORPHA:89844
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situs inver... OMIM:615415
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab... ORPHA:90064
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Recurrent respiratory infections, Hypoplasia of the thymus, Death in c... OMIM:243150
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy OMIM:614096
Mirage Syndrome
Adrenal insufficiency, Petechiae, Lymphopenia, Cryptorchidism, Short stature, Aspiration pneumoni... OMIM:617053
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Recurrent pn... OMIM:619164
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... ORPHA:3226
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Pallor, Hepatosplenomegaly, Reticular pattern on... ORPHA:99931
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... ORPHA:848
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells,... OMIM:617241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Pulmonary hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Neonatal death, Purpu... OMIM:608013
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... ORPHA:3032
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... OMIM:601186
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia, Postnatal growth retardation, Intrauterine gr... OMIM:616733
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... ORPHA:507
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... OMIM:266200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Short stature, Pallor, Paroxysmal atrial tachycardia,... ORPHA:49827
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Skin ulcer, Jaundice, Hypoparathyroidism, Adrena... ORPHA:231226
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus, Abnormality of the endocrine system OMIM:274210
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Kerion Celsi
Lymphadenopathy ORPHA:499
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Cerebellar hypoplasia, Pancytopenia, Thrombocytopenia... OMIM:613839
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Enlarged kidney, ... OMIM:263200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Disproportionate short-limb short stature, Pulmonary hypoplasia, Neonatal death OMIM:224410
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia, Cerebellar hypoplasia OMIM:615228
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Panhypogammaglobulinemia, Ventricular septal defect, Intrauterine g... ORPHA:84064
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia, Congestive heart f... ORPHA:163596
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... OMIM:614034
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Stillbirth, Redunda... OMIM:236500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra... ORPHA:331206
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... OMIM:612541
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease, Hypothyroidism, Maturity-onset diabetes of the young OMIM:268040
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypoplasia, Overriding aorta, Intr... OMIM:617022
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Abnormal pulmonary interstitia... OMIM:607616
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Fanconi Anemia, Complementation Group I
Atrial septal defect, Decreased response to growth hormone stimulation test, Short stature, Colpo... OMIM:609053
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Pulmonary hypoplasia, Death in infancy, Occipital encephalocele, Abnorm... OMIM:241800
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... ORPHA:98375
Alg3-Cdg
Decreased liver function, Abnormality of the endocrine system, Hypoplasia of the pons, Neural tub... ORPHA:79321
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Skin ulcer, Recurrent intrapulmonary hemorrhage, Arrhythmia, ... ORPHA:906
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Hepatomegaly, Hypoplasia of the thymus, Death in childhood, Intr... OMIM:214110
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Atrial septal defect, Redundant skin, Pulmonary hypopl... ORPHA:2655
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormalit... ORPHA:33226
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... ORPHA:858
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Pulmonary insufficiency, Recurrent upper respiratory tract ... ORPHA:277
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Microphthalmia, Syndromic 12
Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Short stature, Hepatomegaly, Splenomegaly ORPHA:2204
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Hepatomegaly, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... OMIM:600462
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Hypoplastic spleen, Pancytopeni... ORPHA:699
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Pallor, Excess... ORPHA:276556
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Abnormality... ORPHA:300298
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Epistaxis, Autoimmune th... ORPHA:1959
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Kagami-Ogata Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cerebellar hypoplasia, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertr... OMIM:616897
Truncus Arteriosus
Ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, Cardiomegaly, A... ORPHA:3384
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Marden-Walker Syndrome
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Dextrocardia, Pulmonary hypoplasia,... OMIM:248700
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Tonne-Kalscheuer Syndrome
Short stature, Pulmonary hypoplasia, Decreased testicular size, Growth delay, Cryptorchidism, Abn... OMIM:300978
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Pallor, Excessive insulin response... ORPHA:324575
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure ORPHA:90037
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Growth d... ORPHA:169079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Short stature, Pallor, Anisocytosis, Poikilocytosis, E... ORPHA:98870
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... OMIM:150550
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Lymphadenopathy, Cardiomyopathy, Con... ORPHA:3386
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Eleva... OMIM:613490
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:236640
Immunodeficiency 64
Increased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... OMIM:618534
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... ORPHA:90033
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Death in adolescence, Neonatal death, Pulmonary arterial hyperte... OMIM:619751
Immunodeficiency 36
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enla... OMIM:616005
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:1046
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Congenital Rubella Syndrome
Intrauterine growth retardation, Hepatomegaly, Atrial septal defect, Splenomegaly, Short stature,... ORPHA:290
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Death in childhood, Cardiomegaly, Congestive ... OMIM:269920
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Retinitis Pigmentosa 42
Pallor OMIM:612943
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:98293
Pagod Syndrome
Hypoplastic left heart, Short stature, Sudden cardiac death, Abnormality of the spleen, Arrhythmi... ORPHA:991
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Ogden Syndrome
Hydrocele testis, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Umbilical her... OMIM:300855
Retinitis Pigmentosa 60
Pallor OMIM:613983
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
1Q41Q42 Microdeletion Syndrome
Short stature, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil nuclei, Pulmonary h... ORPHA:250999
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia, Short stature ORPHA:3204
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly, Anencephaly, Neonatal death, Hypoplastic nipples... OMIM:269860
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Pulmonary hypoplasia, Periportal fibrosis, Abnormal lung lobation OMIM:263210
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... OMIM:242700
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial morpholo... OMIM:612387
Optic Atrophy 9
Pallor OMIM:616289
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Agenesis of corpus callosum, Agenesis of cerebellar vermis OMIM:601160
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Gastroint... ORPHA:731
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood, Anemia, Hepatomegaly OMIM:246450
Retinitis Pigmentosa 81
Pallor OMIM:617871
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Abnorma... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Tachycardia, Pancreatic islet-cell hyper... ORPHA:276608
Peripheral Cone Dystrophy
Pallor OMIM:609021
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi... ORPHA:90051
Tetrasomy 5P
Congestive heart failure, Cerebellar hypoplasia, Heart murmur, Pulmonary hypoplasia, Postnatal gr... ORPHA:3309
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Decreased circulating IgA lev... OMIM:606367
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal defect, Hepatitis, Type I diabet... ORPHA:436252
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosi... OMIM:231680
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Short stature, Hyp... OMIM:208900
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of Fallot, Ventricu... ORPHA:1335
Greenberg Dysplasia
Disproportionate short-limb short stature, Hepatomegaly, Hepatic calcification, Hepatosplenomegal... OMIM:215140
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Patent foramen ovale OMIM:616867
Common Variable Immunodeficiency
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Hem... ORPHA:1572
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Dry skin, Rhizomelia, Decreased circulating antibody level, Bone marro... OMIM:618116
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Dandy-Walker malformation, Splenomegaly, Occipital encephaloc... OMIM:249000
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Type I diabetes mellitus,... OMIM:614700
Achondrogenesis Type 2
Pulmonary hypoplasia, Short stature ORPHA:93296
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Con... ORPHA:40366
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Abnormal pulmonary artery morp... ORPHA:2257
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Diaphanospondylodysostosis
Abnormal liver lobulation, Disproportionate short-trunk short stature, Enlarged kidney, Pulmonary... OMIM:608022
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T... ORPHA:35858
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Impaired T cell function, Abnormality of the tonsils, Ventricu... ORPHA:567
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Odontochondrodysplasia 1
Short stature, Pulmonary hypoplasia, Death in infancy, Mesomelic short stature, Recurrent respira... OMIM:184260
Optic Atrophy 1
Pallor OMIM:165500
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Pulmonary hypoplasia, C... ORPHA:86822
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased circulating IgG level, Tricuspid regurgitation, Decreas... OMIM:619705
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Short stature, Thrombocytopenia, Reduced natural killer cell activity, Pancytopenia... OMIM:616050
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Decreased response to growth hormone stimulation test, Hypothyroidism, Pulmonary hyp... ORPHA:96179
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Pulmonary hypoplasia, Extra... OMIM:200995
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Hypoplasia of the pons, Cerebellar hypoplasia, Pulmonary hypoplasia, Cerebellar atro... OMIM:619708
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Biventricular hypertrophy, P... ORPHA:101028
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Short stature OMIM:602361
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart OMIM:312150
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Palpitations, Abnormal mean corpusc... ORPHA:86839
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Anencephaly, Pulm... OMIM:619148
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Aplastic anemia, Reticular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Mye... OMIM:614742
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, D... ORPHA:85212
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Palpitatio... ORPHA:2847
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Pulmonary hypoplasia, Neonatal death, Lethal short-lim... OMIM:187600
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation ORPHA:994
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... ORPHA:980
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Short stature, Recurrent lower respi... OMIM:253250
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cerebellar hypopla... OMIM:618886
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Serkal Syndrome
Pulmonic stenosis, Abnormality of the adrenal glands, Ventricular septal defect, Pulmonary hypopl... ORPHA:139466
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Tricuspid regurgitation, Short stature, Recurrent upper respiratory tract infections... ORPHA:508542
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Abnormal cardiac septum morphology, Short stature, Single v... OMIM:308050
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... ORPHA:398124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Pleur... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... OMIM:102700
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, H... OMIM:270400
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Mosaic Trisomy 1
Cerebellar hypoplasia, Pulmonary artery atresia, Ventricular septal defect, Lateral ventricle dil... ORPHA:1692
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Decreased circulating antibody level, Pancytopenia, T... ORPHA:90045
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Jaundice, Inappropriate antidiuretic hormone secretion, Pulmonary hemorrhage, Hepat... ORPHA:79124
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Central adrenal insufficiency, Hypogonadism, Central diabetes in... ORPHA:91349
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Skin ulcer, Increased circu... ORPHA:217390
Primary Ciliary Dyskinesia
Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary venous return, Poly... ORPHA:244
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Abnormal... ORPHA:77259
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency, Pulmonary ... OMIM:208500
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies OMIM:185070
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Elevated hepatic transaminase, Purpura, Ne... OMIM:604250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Pneumonia, Panhypogammaglobulinemia OMIM:601457
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... OMIM:230800
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Meckel Syndrome, Type 6
Anencephaly, Hepatic cysts, Absent gallbladder, Pulmonary hypoplasia, Hepatic fibrosis, Bilobed r... OMIM:612284
Fontaine Progeroid Syndrome
Absent nipple, Pulmonary hypoplasia, Umbilical hernia, Intrauterine growth retardation, Abnormal ... OMIM:612289
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Short stature ORPHA:1486
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Short stature, Cerebellar hypoplasia, Ventricular septal defect, Pulmonary ... OMIM:612530
Nephronophthisis 2
Pulmonary insufficiency, Enlarged kidney, Situs inversus totalis, Pulmonary hypoplasia, Hypertension OMIM:602088
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia... ORPHA:20
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Unilateral cryp... OMIM:618280
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Tarp Syndrome
Atrial septal defect, Extramedullary hematopoiesis, Cerebellar hypoplasia, Tetralogy of Fallot, P... ORPHA:2886
Caudal Regression Syndrome
Maternal diabetes, Arrhinencephaly, Pulmonary hypoplasia, Chiari malformation, Hypertension, Cryp... ORPHA:3027
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Severe short stature, Cryptorchidism, Pulmonary hypoplasia, Encephalocele, Abnormal ... ORPHA:1865
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Pulmonary arterial hypertension, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cryptorchidism, Neonatal death, Cholestasis, Hypothyroidi... OMIM:608104
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Death in childhood, Ventricular septal defect, Adrenal hypoplasia, Pulmonary hypopl... OMIM:214100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... OMIM:618278
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, Da... ORPHA:314588
Congenital Tracheomalacia
Atrial septal defect, Cutis laxa, Single ventricle, Recurrent upper respiratory tract infections,... ORPHA:95430
Immunodeficiency 92
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphocytosis, Le... OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Neu-Laxova Syndrome
Lack of skin elasticity, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Pulmonary ... ORPHA:2671
Retinitis Pigmentosa 27
Pallor OMIM:613750
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Short stature, Bone-marrow foam cells, Cardio... OMIM:256550
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Agnathia-Otocephaly Complex
Situs inversus totalis, Pulmonary hypoplasia, Agenesis of corpus callosum, Secundum atrial septal... OMIM:202650
Mosaic Trisomy 9
Atrial septal defect, Dandy-Walker malformation, Abnormal liver lobulation, Abnormal lung lobatio... ORPHA:99776
Retinitis Pigmentosa 70
Pallor OMIM:615922
Fumarase Deficiency
Hepatic failure, Polycythemia, Pallor, Cholestasis, Agenesis of corpus callosum OMIM:606812
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Cerebellar hypoplasia, Hydranencephaly, Small placenta, Ventric... OMIM:256520
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Alg9-Cdg
Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Tricuspid regur... ORPHA:79328
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology,... ORPHA:39041
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Pulmonary hypoplasia, Patent foramen ovale, Cardiomyopathy, Conges... OMIM:616866
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hepatomegaly, Pulmonary artery stenosis, Splenomegaly, Pallo... ORPHA:667
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs... ORPHA:2570
Prolidase Deficiency
Increased circulating antibody level, Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomega... OMIM:170100
Meckel Syndrome 14
Tricuspid regurgitation, Single ventricle, Mitral regurgitation, Hepatic fibrosis, Pulmonary hypo... OMIM:619879
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Decreased circulating IgG lev... OMIM:620005
Autosomal Recessive Multiple Pterygium Syndrome
Short stature, Abnormal aortic valve morphology, Spina bifida occulta, Pulmonary hypoplasia, Umbi... ORPHA:2990
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... OMIM:611490
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Fryns Syndrome
Atrial septal defect, Chylothorax, Ectopic pancreatic tissue, Arrhinencephaly, Ventricular septal... OMIM:229850
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Death in infancy,... OMIM:618839
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Cutis Laxa, Autosomal Recessive, Type Ic
Cutis laxa, Pulmonary hypoplasia, Patent foramen ovale, Umbilical hernia, Emphysema, Growth delay... OMIM:613177
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Hepatomegaly, Hepatoblastoma, Atrial septal defect, Cutis laxa, Postnatal growth ret... ORPHA:96334
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Death in infancy,... OMIM:618835
Q Fever
Hepatomegaly, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Increased circulating antibo... ORPHA:781
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Hepatomegaly, Cirrhosis, Left vent... ORPHA:57777
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy, Irritability OMIM:257200
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cryptorchidism, Decreased circulating total IgM, Severe B lymphocyt... ORPHA:83617
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, ... ORPHA:464329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:614091
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,... ORPHA:227982
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Thromb... OMIM:227645
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmon... ORPHA:227990
Mosaic Trisomy 16
Abnormal heart morphology, Atrial septal defect, Maternal diabetes, Ventricular septal defect, Pu... ORPHA:1708
Tetraploidy
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Chiari malformation, Aplasia/Hy... ORPHA:3305
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Ovarian cyst, Impaired T cell function, Ventricular septal defe... OMIM:188400
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Hepatic failure, Cirrhosis, Portal hypertension, Emphysema OMIM:210050
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Anomalo... ORPHA:99050
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Fetal Akinesia Deformation Sequence 1
Stillbirth, Short umbilical cord, Cerebellar hypoplasia, Small placenta, Pulmonary hypoplasia, Cr... OMIM:208150
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Hypophosphatasia
Anemia, Short stature, Emphysema ORPHA:436
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hypoplastic nipples, Dextrocardia, Pulmonary hypoplasia, ... ORPHA:2437
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary artery stenos... OMIM:611812
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension ORPHA:134
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:391
Meier-Gorlin Syndrome 7
Atrial septal defect, Cryptorchidism, Short stature, Ventricular septal defect, Complete atrioven... OMIM:617063
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper... OMIM:252920
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Pleural effusion, Emphysema, Abnormal heart valve morphology, Lymphad... ORPHA:36412
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Pulmonary edema, Hepatomegaly, Myofiber disarra... OMIM:115197
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an... OMIM:618108
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Arrhinencephaly, ... OMIM:156810
Genitopatellar Syndrome
Atrial septal defect, Short stature, Pulmonary hypoplasia, Cryptorchidism, Agenesis of corpus cal... ORPHA:85201
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... OMIM:618969
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary hypop... OMIM:145420
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2725
Degcags Syndrome
Hepatomegaly, Cholestasis, Ventricular septal defect, Pneumonia, Pancytopenia, Intrauterine growt... OMIM:619488
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Dry skin, Pericarditis, Acute pan... OMIM:619487
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Renal Dysplasia-Limb Defects Syndrome
Maternal diabetes, Neonatal death, Pulmonary hypoplasia, Pneumothorax, Cryptorchidism, Intrauteri... OMIM:266910
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in childhood, Elevated hepatic transaminase, Death in infancy, Pulmonary arte... OMIM:619064
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia OMIM:619851
Dpagt1-Cdg
Abnormal cerebellum morphology, Hepatomegaly, Intracranial hemorrhage, Cerebellar hypoplasia, Ele... ORPHA:86309
Retinitis Pigmentosa 73
Pallor OMIM:616544
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Bronchiolitis obliterans, Decreased circulating IgE, Decreased c... OMIM:300755
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Al Amyloidosis
Abnormal heart morphology, Increased circulating antibody level, Abnormal cardiac ventricle morph... ORPHA:85443
Rh Deficiency Syndrome
Hypochromia, Miscarriage, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia,... ORPHA:71275
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Bronchitis, Patent foramen ovale,... OMIM:601005
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Brain abscess, Myocarditis, Hemolytic anemia... ORPHA:544482
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Diamond-Blackfan Anemia 1
Congestive heart failure, Atrial septal defect, Congenital hypoplastic anemia, Tricuspid stenosis... OMIM:105650
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... ORPHA:124
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentration,... ORPHA:465508
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Rhizomelia, Neonatal short-trunk short stature, Pulmonary hy... ORPHA:1190
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Polycythemia, Pallor, Palpitations,... ORPHA:892
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonary hypoplasia, Cryptorchidism, Ag... ORPHA:2059
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature ORPHA:474
Bronchopulmonary Dysplasia
Pulmonary sequestration, Right ventricular hypertrophy, Right ventricular failure, Emphysema, Abn... ORPHA:70589
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic transaminase, Cardio... OMIM:617713
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Ce... OMIM:263520
Stuve-Wiedemann Syndrome 1
Short stature, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Death in infancy, Pre... OMIM:601559
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Type I diabetes mellitus, Abnormality of the endocrine system, Renovascular hy... ORPHA:391487
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Ane... OMIM:227646
Thymic Aplasia
Decreased proportion of naive T cells, Recurrent streptococcus pneumoniae infections, Coombs-posi... ORPHA:83471
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hyperte... OMIM:603903
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:615503
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm o... ORPHA:83469
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Type I diabetes mellitus, Pancytopenia, Bone marrow hypocellularity, Skin ulcer, Sp... OMIM:615688
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage morphology, Myocardit... ORPHA:292
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Budd-Chiari sy... ORPHA:284
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... ORPHA:100026
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Myocardial infarction, ... ORPHA:60033
Restrictive Dermopathy 1
Intrauterine growth retardation, Atrial septal defect, Short umbilical cord, Neonatal death, Adre... OMIM:275210
Gaucher Disease Type 3
Increased circulating antibody level, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mit... ORPHA:77261
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia, Disproportionate short-trunk short stature OMIM:200600
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology ORPHA:1548
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Intrauterine growth retard... OMIM:615846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Severe short stature, Disproportionate short stature, Umbilical ... ORPHA:93298
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Branchial cyst, ... ORPHA:2260
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Severe short stature, Umbilical hernia ORPHA:932
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Secundum atrial septal defect, Dandy-Walker malformation, Sho... OMIM:264090
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Medullary thyroid carcinoma, Hypertension associated with pheochromocytoma... ORPHA:653
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2145
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension OMIM:267430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Cerebellar hypoplasia, Rhizomelia, Pulmonary hypoplasia, Encephalocele, Dandy-Wal... OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, ... OMIM:617925
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Jaundice, Cryptorchidism, R... ORPHA:3310
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Atrioventricular canal defect, Short stature, Aplasia/Hypoplasia of the cer... ORPHA:818
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Pallor, Tachycardia, Elevated hepatic transaminase, Hepatic steatosis ORPHA:348
Fanconi Anemia, Complementation Group E
Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Thrombocytopenia, P... OMIM:600901
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy