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Gene: Fubp1 MGI:1196294

Gene Summary

Name:

far upstream element (FUSE) binding protein 1

Synonyms:

FBP, 9530027K12Rik, Fubp, Fubp4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased anxiety-related response	Fubp1^em1(IMPC)Mbp	HET	Early adult	2.37×10^-05
decreased thigmotaxis	Fubp1^em1(IMPC)Mbp	HET	Early adult	3.72×10^-08
preweaning lethality, complete penetrance	Fubp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal behavior	Fubp1^em1(IMPC)Mbp	HET	Early adult	4.23×10^-08
abnormal lymph node morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	8.44×10^-07
enlarged lymph nodes	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Fubp1^em1(IMPC)Mbp	HET	Early adult	3.43×10^-21

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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 Lateral Orientation

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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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.

Human diseases associated with Fubp1 (0 diseases)
Human diseases predicted to be associated with Fubp1 (828 diseases)

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	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Mitochondrial Complex I Deficiency, Nuclear Type 35	Redundant neck skin, Cardiomyopathy, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neona...	OMIM:619003
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Reduced natu...	OMIM:300400
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Agenesis of corpus callosum, Atrial septal defect, Intrauterine growth retard...	ORPHA:89844
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Microphthalmia, Syndromic 9	Severe short stature, Truncus arteriosus, Ventricular septal defect, Short stature, Agenesis of p...	OMIM:601186
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia	OMIM:615228
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Mirage Syndrome	Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Petechiae, Cryptorchidism, Ane...	OMIM:617053
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart...	ORPHA:99931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor, Hypertro...	OMIM:613561
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli...	OMIM:617241
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocyto...	OMIM:619164
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Abnormal...	ORPHA:3032
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Pulmonary hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Dandy-Walker malformation, Hepa...	OMIM:208540
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Pulmonary hypopl...	OMIM:608013
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Pallor...	OMIM:615234
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Left ventricular hypertrophy, I...	OMIM:616733
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Short stature, Cardiac arrest, Megaloblastic anemia...	ORPHA:49827
Microphthalmia, Syndromic 12	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Pulmonary hypoplasia, Neonata...	OMIM:615524
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ...	ORPHA:163596
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypopla...	OMIM:185070
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa...	ORPHA:84064
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep...	OMIM:614034
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia, Cerebellar hypoplasia, Short stature	OMIM:618174
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Trimethylaminuria	Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Redundant skin, Adrenal hypoplasia, Atelectasis, Recurrent pn...	OMIM:613177
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe...	OMIM:301082
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Hepatic cysts, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hy...	OMIM:263200
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609053
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Redundant neck skin, Stillbirth, Pulmonary hypoplasia, Cerebellar hypoplasia, Neonatal death, Hyd...	OMIM:236500
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Short stature, Chiari type I malformation, Pulmonary h...	OMIM:241800
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia	OMIM:245650
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Ce...	OMIM:613839
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Alg3-Cdg	Hypoplasia of the pons, Abnormality of the endocrine system, Neural tube defect, Cardiomyopathy, ...	ORPHA:79321
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Epistaxis, Abnormality of ...	ORPHA:33226
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Pallor, Palpitati...	ORPHA:276575
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Int...	ORPHA:858
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog...	OMIM:214110
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus...	ORPHA:276580
Thanatophoric Dysplasia	Redundant skin, Disproportionate short-limb short stature, Pulmonary hypoplasia, Atrial septal de...	ORPHA:2655
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature, Hepatomegaly	ORPHA:2204
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre...	ORPHA:1959
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Parachute mitral va...	OMIM:618316
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosple...	ORPHA:300298
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia, Intrauterine growth retardation	ORPHA:3035
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy...	OMIM:617022
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Hyperinsulinemic hypoglycemia, Excessiv...	ORPHA:276556
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio...	ORPHA:2133
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen mor...	ORPHA:2470
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Pleural effusion, Pulmonary hypoplasia, Cerebellar hypop...	OMIM:616897
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Adrenal hypoplasia	OMIM:613124
Meacham Syndrome	Accessory spleen, Death in infancy, Congenital alveolar dysplasia, Bicuspid aortic valve, Ventric...	OMIM:608978
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A...	OMIM:608149
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular septal defec...	OMIM:620135
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsuline...	ORPHA:324575
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia	OMIM:256050
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati...	ORPHA:3384
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Marden-Walker Syndrome	Dextrocardia, Postnatal growth retardation, Cryptorchidism, Pulmonary hypoplasia, Cerebellar hypo...	OMIM:248700
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absence of lymph node germinal center, Increased circulating IgE level, ...	ORPHA:277
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Anencephaly, Periportal fibro...	OMIM:269860
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Tonne-Kalscheuer Syndrome	Short stature, Cryptorchidism, Abnormal heart morphology, Growth delay, Pulmonary hypoplasia, Dec...	OMIM:300978
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele...	ORPHA:98870
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ...	OMIM:613101
American Trypanosomiasis	Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a...	OMIM:600462
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Splenomegaly, Anemia	ORPHA:1046
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Gracile Bone Dysplasia	Asplenia, Death in infancy, Hypoplastic spleen, Short stature	OMIM:602361
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Ne...	ORPHA:3260
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Death...	OMIM:269920
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology	OMIM:263210
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:616005
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Anemia, Type I di...	ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia, Death in childhood	OMIM:246450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Pagod Syndrome	Encephalocele, Death in infancy, Short stature, Spina bifida, Sudden cardiac death, Situs inversu...	ORPHA:991
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu...	OMIM:300855
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyposegmentation of neutrophil nuc...	ORPHA:250999
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liv...	ORPHA:90051
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis...	OMIM:208530
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Pallor, Hyperinsulinemic hypogl...	ORPHA:276608
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis...	ORPHA:3099
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ...	ORPHA:185
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Postnatal growth retardation, Congestive h...	ORPHA:3309
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Cryptorchidism, Pulmonary hypoplasia, Disproportio...	OMIM:224410
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Ataxia-Telangiectasia	Decreased circulating IgG level, Conjunctival telangiectasia, Diabetes mellitus, Female hypogonad...	OMIM:208900
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosp...	OMIM:215140
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Rectal abscess, Hypoplasia of ...	ORPHA:436252
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Atrial septal defect,...	ORPHA:567
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An...	ORPHA:1335
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno...	ORPHA:2257
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level...	OMIM:618116
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati...	OMIM:231680
Optic Atrophy 1	Pallor	OMIM:165500
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Adrenal hypoplasia, Malforma...	OMIM:249000
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Odontochondrodysplasia 1	Recurrent respiratory infections, Death in infancy, Short stature, Mesomelic short stature, Pulmo...	OMIM:184260
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A...	ORPHA:40366
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Decreased circulating IgG level, Hypothyroidism, Psoriasiform lesion...	OMIM:614700
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,...	ORPHA:169079
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Partial agenesis of the corpus callosum, Pulmonary hypoplasia, C...	ORPHA:86822
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem...	ORPHA:86839
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p...	OMIM:612387
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Short stature, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, S...	OMIM:616050
Diaphanospondylodysostosis	Disproportionate short-trunk short stature, Abnormal liver lobulation, Pulmonary hypoplasia, Intr...	OMIM:608022
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever...	OMIM:102700
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart	OMIM:312150
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequest...	OMIM:200995
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir...	ORPHA:90045
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Usual interstitial pneumonia, Bone ma...	OMIM:614742
Thanatophoric Dysplasia, Type I	Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul...	OMIM:187600
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial...	OMIM:620296
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Maternal Uniparental Disomy Of Chromosome 2	Miscarriage, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Pos...	ORPHA:96179
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Short stature, Cryptorchidism, Anencephaly, Pulmonary hypoplasia, Pulmonic stenosi...	OMIM:619148
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating...	OMIM:209950
Transaldolase Deficiency	Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, Cirrhosis, Atrial septal d...	ORPHA:101028
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation, Intrauterine growth retardation	ORPHA:994
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Pro...	ORPHA:398124
Absence Of The Pulmonary Artery	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bronchiectasis, Abnormal ...	ORPHA:980
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega...	OMIM:226990
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Growth ...	OMIM:253250
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Adrenal hypoplasia, Erythema, Mild intrauterine growth retardation, Stillbirth, Ab...	OMIM:308050
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis, Cerebellar hy...	OMIM:619708
Serkal Syndrome	Ventricular septal defect, Growth delay, Abnormality of the adrenal glands, Pulmonary hypoplasia,...	ORPHA:139466
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ...	ORPHA:2847
Smith-Lemli-Opitz Syndrome	Partial agenesis of the corpus callosum, Abnormal lung lobation, Chiari type I malformation, Atri...	OMIM:270400
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven...	OMIM:314390
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis, Hep...	OMIM:612840
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Pseudo-Torch Syndrome 3	Death in infancy, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, C...	OMIM:618886
Nephronophthisis 2	Situs inversus totalis, Hypertension, Pulmonary hypoplasia, Pulmonary insufficiency, Enlarged kidney	OMIM:602088
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Immunodeficiency 9	Death in infancy, Hypoplasia of the thymus	OMIM:612782
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Mosaic Trisomy 1	Hepatic agenesis, Cerebellar vermis hypoplasia, Ventricular septal defect, Lateral ventricle dila...	ORPHA:1692
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart	OMIM:253290
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardati...	OMIM:615966
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent respiratory infections, Splenomegaly, Recurrent pharyngitis...	ORPHA:47612
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Pallor	OMIM:500007
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary si...	OMIM:618280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno...	ORPHA:79124
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Thrombocytopenia, Congestiv...	ORPHA:508542
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Ventricular hyp...	OMIM:618278
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Pallor, Paragangli...	ORPHA:94080
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Skin ulcer, T lymph...	ORPHA:217390
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Di...	ORPHA:20
Niemann-Pick Disease, Type A	Splenomegaly, Inability to walk, Lymphadenopathy, Irritability, Athetosis, Cherry red spot of the...	OMIM:257200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, Gr...	OMIM:614069
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal pulmonary...	ORPHA:77259
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Agenesis of corpus callosum, Pulmonary hypoplasia, Situs inversus ...	OMIM:202650
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Abnormal pulmonary interstiti...	OMIM:230800
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis...	OMIM:208500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Miscarriage, Cryptorchidism, Abnormal heart morphology, Pulm...	ORPHA:1865
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Redundant skin, Atrial septal defect, Neonat...	OMIM:612289
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Congestive heart failure, Cardiomyopathy, Pulmonary hypoplasia, Pa...	OMIM:616866
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Bilobed right lung, Anencephaly, Cystic liver diseas...	OMIM:612284
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Distal Triplication 15Q	Abnormal heart morphology, Hydrocele testis, Pulmonary hypoplasia, Atrial septal defect, Intraute...	ORPHA:314588
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Supernumerary nipple, Cryptorchidism, Pulmonary hypopla...	OMIM:612530
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Pulmonary hypoplasia, Cerebellar hypoplasia, Atrial...	ORPHA:2886
Pleural Mesothelioma	Lymphadenopathy, Dysphagia	ORPHA:50251
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Ad...	OMIM:214100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Rhizomelia, Stillbirth, Neonatal short-limb short stature, Pulmonary hypoplasia	OMIM:151210
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Elevated hepatic transaminase, Severe B lympho...	OMIM:620005
Neu-Laxova Syndrome	Spina bifida, Lack of skin elasticity, Hypogonadism, Cerebellar hypoplasia, Pulmonary hypoplasia,...	ORPHA:2671
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Autosomal Recessive Multiple Pterygium Syndrome	Short stature, Cryptorchidism, Abnormal aortic valve morphology, Pulmonary hypoplasia, Hypogonadi...	ORPHA:2990
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Panhypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95513
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary valve morphology, Splenomegaly...	ORPHA:667
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Asplenia,...	ORPHA:99776
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona...	OMIM:611812
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn...	ORPHA:95430
Alg9-Cdg	Cerebellar atrophy, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia,...	ORPHA:79328
Neuraminidase Deficiency	Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph...	OMIM:256550
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Cardiomyopathy, Decreased liver function,...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Decreased liver function, Neonatal death,...	OMIM:618835
Adenohypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95512
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, Lymphad...	ORPHA:39041
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hyperinsulinemia, Pancreatic islet-cell...	ORPHA:263455
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Hepatic fib...	OMIM:619879
Immunodeficiency 92	Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory...	OMIM:619652
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pericarditis, Hepatic steatosis, A...	OMIM:619487
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Cryptorchidism, Stillbirth, Pulmonary hypop...	OMIM:229850
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Miscarriage, Short stature, Hepatob...	ORPHA:96334
Sheehan Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:91355
Mosaic Trisomy 16	Ventricular septal defect, Maternal diabetes, Large placenta, Abnormal lung morphology, Abnormal ...	ORPHA:1708
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Cryptorchidism, Agenesis of corpus callosum, Stillbirth,...	OMIM:256520
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri...	ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short stature, Congenital hypop...	OMIM:105650
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Short stature, Anemic pa...	OMIM:227645
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Pancreatic fibrosis, Tricuspid regurgita...	OMIM:263520
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia, Pneumonia	OMIM:601457
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Postnatal growth ret...	ORPHA:83617
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Q Fever	Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomegaly, Perica...	ORPHA:781
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Abnormal lung morphology, Pan...	ORPHA:464329
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Bilateral trilobed lung, Right atrial isomerism, Atrial reentry tachycardia, ...	OMIM:270100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Teebi Hypertelorism Syndrome 1	Short stature, Ventricular septal defect, Hydrocele testis, Pulmonary hypoplasia, Atrial septal d...	OMIM:145420
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Short stature, Pulmonary hypoplasia	OMIM:614091
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Pulmonary hypoplasia, Hypoplastic nipples, Spina bi...	ORPHA:2437
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Caudal Regression Syndrome	Maternal diabetes, Cryptorchidism, Hypertension, Chiari malformation, Pulmonary hypoplasia	ORPHA:3027
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear...	ORPHA:99050
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Meier-Gorlin Syndrome 7	Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Cr...	OMIM:617063
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Tetraploidy	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Chiari malformation, Aplasia/Hy...	ORPHA:3305
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Rhabdoid Tumor	Irritability, Lymphadenopathy	ORPHA:69077
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Abnormal cerebellum morpholog...	ORPHA:86309
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs...	ORPHA:2570
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ...	OMIM:619064
Genitopatellar Syndrome	Short stature, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Agenesis of corpus cal...	ORPHA:85201
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Intrauterine growth retardation...	OMIM:619488
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Dextrocardia, Situs inversus totalis	OMIM:618948
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Cryptorchidism, Stillbirth, Pulmonary hypoplasia, Cerebellar hypoplasi...	OMIM:616300
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Short stature, Pure red cell aplasia, Erythroi...	ORPHA:124
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia	OMIM:611490
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Bronchiectasis, Decreased circulating antibod...	OMIM:618108
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ve...	ORPHA:85443
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Intestinal lymphangiectas...	OMIM:226300
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Diabetes mellitus, Hypertensive crisis, Pneumonia, Respiratory t...	ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy	OMIM:603552
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Recurrent pneumonia, Cor pulmonale, Bronchiectas...	OMIM:300755
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth...	OMIM:614702
Renal Hypodysplasia/Aplasia 1	Hypertension, Pulmonary hypoplasia	OMIM:191830
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine gr...	OMIM:620133
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Pulmonary hypoplasia	ORPHA:85166
Atelosteogenesis Type I	Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hy...	ORPHA:1190
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Pulmonary hypoplasia, Elongated superior ce...	OMIM:615636
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Patent foramen ovale, Short stature, Autoimmune thrombocytopenia, Abnormality ...	ORPHA:391487
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Tachycardia, Anisocytosis, Jau...	ORPHA:71275
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Hypoglossia With Situs Inversus	Asplenia, Polysplenia, Situs inversus totalis	OMIM:612776
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Hypothyroidism, Atypical...	ORPHA:83471
Fryns Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Ag...	ORPHA:2059
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Abnormal lung lob...	ORPHA:1120
Stuve-Wiedemann Syndrome 1	Death in infancy, Short stature, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pul...	OMIM:601559
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Annul...	OMIM:227646
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Stillbirth, Cerebellar hypoplasia, Pulmonary hypoplasia, Short umbilical cord, Sm...	OMIM:208150
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean c...	OMIM:127550
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature	ORPHA:474
Restrictive Dermopathy 1	Adrenal hypoplasia, Hydropic placenta, Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Ne...	OMIM:275210
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy...	ORPHA:100026
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated jugu...	ORPHA:465508
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia, Short stature	OMIM:615503
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Decreased specific antibody re...	OMIM:241600
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Short statur...	ORPHA:1596
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Type I diabetes mellitus, Emphys...	OMIM:620365
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys...	ORPHA:70589
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi...	OMIM:601005
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv...	ORPHA:615
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in infancy, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circul...	OMIM:612301
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Achondrogenesis, Type Ia	Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia	OMIM:200600
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Tetrasomy 9P	Absent gallbladder, Pericarditis, Dextrocardia, Raynaud phenomenon, Cryptorchidism, Jaundice, Bil...	ORPHA:3310
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Short stature, Portal hypertension, Cirrhosis, Emphysema, Hepatic failure	OMIM:210050
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology	ORPHA:1548
Fumarase Deficiency	Intrahepatic cholestasis, Agenesis of corpus callosum, Perimembranous ventricular septal defect, ...	OMIM:606812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy...	OMIM:615688
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Recurren...	ORPHA:77261
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he...	ORPHA:276621
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Abnormal pericardium morphology, Cholangitis, Pancre...	ORPHA:284
Achondroplasia	Death in infancy, Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia	OMIM:100800
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp...	ORPHA:653
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Abnor...	ORPHA:818
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, P...	OMIM:615846
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs, Umbilical hernia, Disproportionate short stature, Severe short s...	ORPHA:93298
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Hypertension, Pulmonar...	ORPHA:2260
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Hypotension	OMIM:267430
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Retic...	OMIM:600901
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath...	ORPHA:36412
Dravet Syndrome	Pallor	ORPHA:33069
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Short stature, Pneumonia, Secundum atrial septal defect, Crypto...	OMIM:264090
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,...	OMIM:617925
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly...	OMIM:619418
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Umbilical hernia, Severe short stature	ORPHA:932
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature	ORPHA:2145
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis	ORPHA:348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology	OMIM:601612
Raine Syndrome	Neonatal death, Death in infancy, Short stature, Pulmonary hypoplasia	OMIM:259775
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorr...	ORPHA:666
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Mitral valve prolapse, Pulmon...	ORPHA:536467
Alg12-Cdg	Elevated hepatic transaminase, Recurrent respiratory infections, Decreased serum insulin-like gro...	ORPHA:79324
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Retic...	OMIM:227650
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Roifman Syndrome	Splenomegaly, Retinal dystrophy, Lymphadenopathy	OMIM:616651
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Brucellosis	Liver abscess, Bronchitis, Leukopenia, Increased circulating IgG level, Abnormality of the liver,...	ORPHA:1304
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Cinca Syndrome	Papilledema, Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Abnormal cardiac septum morphol...	ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Atrial septal defect, Pulmonary hypoplasia, Hydrocele testis	OMIM:614080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Short stature, Asplenia, Partial anomalous pulmonary ven...	OMIM:619657
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Roifman Syndrome	Retinal dystrophy, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Redundant skin, Aplasia/Hypoplasia of the lungs, Atrial septal defect	ORPHA:93274
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Restrictive Dermopathy	Dermal translucency, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Large placent...	ORPHA:1662
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Severe short stature, B lymphocytopenia	OMIM:619851
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert...	ORPHA:91347
Esophageal Atresia	Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Maternal diabetes, Growt...	ORPHA:1199
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs, Umbilical hernia, Severe short stature	ORPHA:93299
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer...	OMIM:605376
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Abnormal heart valve morphology, Short stature, Cryptorchidism, Cutis l...	ORPHA:536471
Vacterl With Hydrocephalus	Cryptorchidism, Pulmonary hypoplasia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situ...	OMIM:619123
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Abnormality of the spleen, Abnormality of the liver, Short stature	ORPHA:1834
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat...	OMIM:232300
Incontinentia Pigmenti	Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Retinal hemorrhage, Br...	OMIM:308300
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Left ventricular hypertrophy, Inappropriate antidiuretic hormone s...	ORPHA:79330
Schinzel-Giedion Syndrome	Streak ovary, Recurrent pneumonia, Annular pancreas, Abnormal heart morphology, Chiari type I mal...	ORPHA:798
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc...	OMIM:614921
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Peri...	OMIM:201475
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ...	OMIM:618652
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Severe short-limb dwarfism, Decreased response t...	ORPHA:1263
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Cryptorchidism, Abn...	ORPHA:3097
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C...	ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong...	ORPHA:67
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Multiple Pterygium Syndrome, Escobar Variant	Short stature, Cryptorchidism, Hypoplastic nipples, Pulmonary hypoplasia, Umbilical hernia	OMIM:265000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Hematochezia, Anemia	ORPHA:329971
Eec Syndrome	Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, A...	ORPHA:1896
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Abnormal retinal morphology	ORPHA:33276
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Splenomegaly, Intraalveolar phospholipid accumulation, Cutis laxa, A...	OMIM:222700
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari...	ORPHA:88
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc...	ORPHA:2969
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v...	OMIM:617713
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Peritonitis, Pulmonary hypoplasia	OMIM:619351
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Anencephaly, Pulmonary hypoplasia, Atrial septal defect, Occipital ...	OMIM:616546
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ...	OMIM:620025
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia	OMIM:273395
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Short stature, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:230000
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Scrub Typhus	Splenomegaly, Lethargy, Lymphadenopathy	ORPHA:83317
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Pulmonary hypoplasia, Short umbilical cord	OMIM:616503
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia o...	ORPHA:861
Atelosteogenesis Type Ii	Rhizomelic arm shortening, Rhizomelia, Pulmonary hypoplasia	ORPHA:56304
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Short sta...	OMIM:620186
Griscelli Syndrome	Splenomegaly, Ataxia, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Respiratory tract infection, Elevated circulating alanine aminotransf...	ORPHA:308552
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Myocardit...	ORPHA:50918
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Short stature, Growth delay, Pallor, Increased circulating prolactin concentration	OMIM:617675
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Myelopathy, Splenomegaly,...	OMIM:252500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating aspartate ami...	OMIM:608836
Vacterl/Vater Association	Occipital encephalocele, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallblad...	ORPHA:887
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Severe short stature, Monorchism, Primary adrenal insufficiency...	ORPHA:2753
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Ataxia, Lymph node hypoplasia	OMIM:613179
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Arrhythmia, ...	ORPHA:42
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Death ...	OMIM:613320
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia	OMIM:618975
Renal Agenesis	Hypertension, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Death in childhood	OMIM:268800
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Severe short stature	ORPHA:2635
Legionnaires Disease	Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:549
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal cardiac septum morphology	ORPHA:1027
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Absent nipple, Pulmonary hypoplasia	OMIM:200980
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Irritability, Ataxia, Lymphadenopathy	OMIM:267700
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:98850
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Short statur...	ORPHA:324
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Short stature, Increased circulating IgA ...	OMIM:256040
Mevalonic Aciduria	Optic disc pallor, Ataxia, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Progres...	OMIM:610377
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Cerebellar hypoplasia, Cardiomegaly	ORPHA:3137
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Cinca Syndrome	Splenomegaly, Retrobulbar optic neuritis, Pseudopapilledema, Lymphadenopathy	ORPHA:1451
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, Re...	OMIM:251260
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Thymus hyperplasia, Chylothorax	OMIM:619036
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Irritability	OMIM:603553
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Perica...	OMIM:181000
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia o...	ORPHA:2970
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Bronchitis, Follicular hyperplasia, Splenomegal...	OMIM:619381
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Leukopeni...	ORPHA:797
Thoracoabdominal Syndrome	Ectopia cordis, Pulmonary hypoplasia, Anencephaly, Transposition of the great arteries	OMIM:313850
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism, Patent foramen ovale, Cerebellar hypoplasia	OMIM:617746
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ...	ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Holzgreve Syndrome	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormal mesentery morphology	ORPHA:2167
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalveolar fluid...	OMIM:233450
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Holoprosencephaly	Encephalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology,...	ORPHA:2162
Thanatophoric Dysplasia Type 1	Redundant skin, Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Atrial septal defect, L...	ORPHA:1860
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Abnormal myocardium morphology, S...	ORPHA:581
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect, Short stature, Maternal diabetes	ORPHA:2549
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia	ORPHA:50945
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Bohring-Opitz Syndrome	Recurrent respiratory infections, Short stature, Cardiomegaly, Abnormal cardiac septum morphology...	ORPHA:97297
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepa...	OMIM:307200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Short stature, Portal hypertension, Abnormal pulmona...	OMIM:613658
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Hepatic calcification, Car...	ORPHA:228308
Fraser Syndrome 1	Encephalocele, Cryptorchidism, Myelomeningocele, Abnormal heart morphology, Abnormal thymus morph...	OMIM:219000
Nephroblastoma	Lymphadenopathy	ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Chediak-Higashi Syndrome	Ataxia, Splenomegaly, Ocular albinism, Lymphadenopathy, Macular hypoplasia, Gait disturbance	OMIM:214500
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Lymphadenopathy	ORPHA:343
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anorexia	ORPHA:514
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hyper-Igd Syndrome	Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Rod-cone dys...	OMIM:260920
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Lymphadenopathy	ORPHA:520
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature	ORPHA:3004
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Pulmona...	ORPHA:363618
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Meckel Syndrome	Encephalocele, Accessory spleen, Pancreatic fibrosis, Asplenia, Situs inversus totalis, Cryptorch...	ORPHA:564
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Congenital hepatic fibrosis, Disproportionate short-limb short stature, Pulmonary...	ORPHA:93271
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Ac...	ORPHA:14
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Severe short stature, Redundant skin, Congestive heart fai...	ORPHA:90349
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab...	OMIM:187300
Fraser Syndrome	Encephalocele, Death in infancy, Cryptorchidism, Myelomeningocele, Abnormal lung lobation, Pulmon...	ORPHA:2052
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Optic neuritis, Lymphadenopathy	ORPHA:436159
Graft Versus Host Disease	Irritability, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland	ORPHA:3429
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Wolf-Hirschhorn Syndrome	Atrial septal defect, Recurrent respiratory infections, Abnormal heart valve morphology, Cryptorc...	ORPHA:280
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Respiratory tract infection, Atelectasis, ...	ORPHA:365
Focal Dermal Hypoplasia	Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Eryth...	ORPHA:2092
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Cardiomegaly, Hypoplasia of the pons, Cryptorchidism, Umbilical...	OMIM:618143
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Redundant skin, Cutis laxa, Umbilical hernia, Emphysema, Suprav...	OMIM:219100
Tay-Sachs Disease	Pallor	OMIM:272800
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Increased hepatic gly...	OMIM:619259
Carney Triad	Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy	ORPHA:139411
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Redundant skin, Cardiomegaly, Splenomegaly, Large placen...	ORPHA:116
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Polysplenia, Annular p...	OMIM:164280
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:2063
Behçet Disease	Ataxia, Anorexia, Splenomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Irritability, Gait d...	ORPHA:117
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Farber Disease	Macular degeneration, Cherry red spot of the macula, Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab...	OMIM:600376
Ulbright-Hodes Syndrome	Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Pneumothorax, Birth length less ...	ORPHA:3404
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor...	OMIM:130050
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100080
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy	ORPHA:160
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Agenesis of corpus callosum, Abnormal lung lobation	ORPHA:3301
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Short stature, Neonatal alloimmune thrombocytop...	ORPHA:51
Genitopatellar Syndrome	Ventricular septal defect, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Pulmonary h...	OMIM:606170
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Redundant neck skin, Redundant skin, Postnatal growth retardation, Congesti...	ORPHA:90348
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Familial Pancreatic Carcinoma	Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:1333
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Intrauterine ...	ORPHA:158687
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy	ORPHA:540
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Lymphaden...	ORPHA:31204
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100082
Penile Agenesis	Ventricular septal defect, Maternal diabetes, Cryptorchidism, Bilateral lung agenesis, Pulmonary ...	ORPHA:49
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Enlarged polycystic ovaries, Splen...	ORPHA:744
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Ataxia, Splenomegaly, Inability to walk, Lymphadenopathy, He...	ORPHA:167
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Bronch...	OMIM:123700
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Abnorma...	ORPHA:538
Mckusick-Kaufman Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:236700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:615895
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Cardiomegaly	ORPHA:349
Riddle Syndrome	Emotional lability, Generalized lymphadenopathy, Ataxia, Gait disturbance	ORPHA:420741
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Systemic Lupus Erythematosus	Retinopathy, Lymphadenopathy, Depression	ORPHA:536
Poems Syndrome	Papilledema, Lymphadenopathy	ORPHA:2905
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100086
Pallister-Killian Syndrome	Ventricular septal defect, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic limb shortening...	OMIM:601803
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Patent foramen ovale, Short stature	ORPHA:221120
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Abnormal pulm...	ORPHA:261537
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Mitral valve prolapse, Telangiectasia, Hematoche...	OMIM:175050
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Mitral valve prolapse, Cutis laxa...	OMIM:245600
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ...	ORPHA:3427
Leptospirosis	Papilledema, Anorexia, Retinal hemorrhage, Lymphadenopathy, Chorioretinitis, Optic neuritis, Macu...	ORPHA:509
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy	OMIM:617591
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Chiari type I malformation, Abnorm...	ORPHA:261552
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Atrial septal defect,...	ORPHA:904
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar cyst, Cerebellar hypoplasia, Pallor, Cerebellar dysplasia	OMIM:253280
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
African Trypanosomiasis	Papilledema, Akinesia, Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ir...	ORPHA:3385
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Branchial anomaly, Chiari malformation, Pulmo...	OMIM:164210
H Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Mowat-Wilson Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Pulmonary art...	ORPHA:2152
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Depression	ORPHA:324625
Blau Syndrome	Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar optic neuritis, Lymphadenopathy, ...	ORPHA:90340
Coccidioidomycosis	Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormal retinal morphology, Lymphadenopathy	ORPHA:228123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth ret...	ORPHA:3472
Hennekam Syndrome	Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy	ORPHA:2136
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Crimean-Congo Hemorrhagic Fever	Anorexia, Splenomegaly, Retinal hemorrhage, Lymphadenopathy, Agitation, Emotional lability	ORPHA:99827
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
Marburg Hemorrhagic Fever	Lethargy, Lymphadenopathy, Anorexia, Aggressive behavior	ORPHA:99826
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Plague	Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarged mesenteric lymph node, Depression	ORPHA:707
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Ad...	OMIM:130650
Primary Sjögren Syndrome	Optic neuritis, Lymphadenopathy, Depression	ORPHA:289390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Lymphadenopathy	ORPHA:79078
Familial Mediterranean Fever	Splenomegaly, Lymphadenopathy	ORPHA:342
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Neoplasm of the thymus, Abnormal lymph node morphology, Depression, Emotional lability	ORPHA:99889
Microphthalmia, Syndromic 1	Growth delay, Cryptorchidism, Bicuspid aortic valve, Pulmonary hypoplasia	OMIM:309800
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Igg4-Related Ophthalmic Disease	Abnormal optic nerve morphology, Lymphadenopathy	ORPHA:449563
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard...	ORPHA:51608
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Short stature, Cardiomegaly, Aortic...	OMIM:182250
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term dysplasia	Fubp1^em1(IMPC)Mbp	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fubp1.

No publications found that use IMPC mice or data for Fubp1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fubp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fubp1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fubp1 MGI:1196294

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Fubp1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data