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Gene: Fubp1 MGI:1196294

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Gene Summary

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

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Fubp1em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Fubp1em1(IMPC)Mbp HOM   Early adult 0.00
decreased locomotor activity Fubp1em1(IMPC)Mbp HET Early adult 1.14×10-20
abnormal behavior Fubp1em1(IMPC)Mbp HET Early adult 2.93×10-08
abnormal skin morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
decreased thigmotaxis Fubp1em1(IMPC)Mbp HET Early adult 2.61×10-08
decreased anxiety-related response Fubp1em1(IMPC)Mbp HET Early adult 4.94×10-06

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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 Dorso Ventral

48 Images

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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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Human diseases caused by Fubp1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Fubp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly ORPHA:46532
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Death in infancy, Pulmonary hypoplasia, Congestive he... OMIM:614096
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Death in childhood, Lymphopenia OMIM:200900
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Pulmonary hypoplasia, Redundant neck skin, Neonatal death, Intra... OMIM:619003
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, ... OMIM:615631
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Cerebellar atrophy, Hypoplastic spleen, Intrauterine ... ORPHA:89844
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le... ORPHA:90064
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Abnormal lung lobation, Malforma... OMIM:615415
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia OMIM:615228
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly, Pallor ORPHA:228312
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Ventricular septal defect, Death in infancy, Decreased circulating anti... OMIM:243150
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mirage Syndrome
Leukopenia, Anemia, Aspiration pneumonia, Short stature, Petechiae, Adrenal insufficiency, Decrea... OMIM:617053
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly,... ORPHA:99931
Beta-Thalassemia Intermedia
Hypothyroidism, Adrenal insufficiency, Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, ... ORPHA:231222
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Intracranial hemorrhage, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone... ORPHA:3226
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Hypertrophic cardiomyopathy, Growth ... OMIM:613561
Beta-Thalassemia
Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,... ORPHA:848
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... OMIM:619164
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Dandy-Walke... ORPHA:3032
Gaucher Disease, Perinatal Lethal
Hepatic failure, Anemia, Petechiae, Purpura, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatomega... OMIM:608013
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Pulmonary hypoplasia, Hepa... OMIM:208540
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Pulmonary hypoplasia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:616531
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Skin ul... ORPHA:507
Primary Myelofibrosis
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Pancytopenia, Hepatosplenomegaly, Poiki... ORPHA:824
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia, Intrauterine growth retardation... OMIM:616733
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Bilateral lung agenesis, Short stature, Truncus arteriosus, Pulmon... OMIM:601186
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Paroxysmal atrial tachycardia, Short stature, Ventricular septal defect, Ca... ORPHA:49827
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Cholecystitis, Chronic he... OMIM:266200
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular carcinoma, Sk... ORPHA:231226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Growth delay, He... OMIM:615234
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, ... ORPHA:231214
Kerion Celsi
Lymphadenopathy ORPHA:499
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pallor, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Spleno... ORPHA:163596
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... ORPHA:331206
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Hepatomegaly, Peripheral pulmonary arte... ORPHA:84064
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Epistaxis, Thrombocytopenia, Hypoplastic sp... OMIM:185070
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cerebellar hypoplasia, Pulmonary hypoplasia, Redundant neck skin, Hydranencephaly, Stillbirth, Ne... OMIM:236500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... OMIM:612541
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane... ORPHA:822
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly OMIM:619126
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Hypoplasia of the thymus, Cutis laxa, Death in infancy, Pulmonary hypoplasi... OMIM:613177
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Short stature, Bone-m... OMIM:607616
Acute Myelomonocytic Leukemia
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Immunodeficiency 102
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... OMIM:301082
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Pulmonary hypoplasia, H... OMIM:263200
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Hypothyroidism, Decreased response to growth hormone stimulation test, Chia... OMIM:609053
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of an... OMIM:607594
Pallister-Hall-Like Syndrome
Short stature, Death in infancy, Anterior hypopituitarism, Pulmonary hypoplasia, Chiari type I ma... OMIM:241800
Autoimmune Hemolytic Anemia
Hemolytic anemia, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte morphology, Sp... ORPHA:98375
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Skin ulcer, Hematemesis, Thrombocytopenia, Purpur... ORPHA:906
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Alg3-Cdg
Neural tube defect, Pulmonary hypoplasia, Hypoplasia of the pons, Decreased liver function, Abnor... ORPHA:79321
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276575
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Abnormal heart morphology, H... OMIM:214110
Waldenström Macroglobulinemia
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... ORPHA:33226
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Pulmonary hypoplasia, Ventricular septal defect OMIM:615524
Congenital Toxoplasmosis
Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thr... ORPHA:858
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Cerebellar hypoplasia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increa... OMIM:613839
Thanatophoric Dysplasia
Pulmonary hypoplasia, Atrial septal defect, Redundant skin, Disproportionate short-limb short sta... ORPHA:2655
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus, Hyperinsulinemic hypoglyc... ORPHA:276580
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent foramen ovale, Double outlet right ventricle, Recurrent respiratory infections, Ventricula... OMIM:618316
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Short stature, Splenomegaly, Hepatomegaly ORPHA:2204
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Splenomegaly, Myeloid leukemia, Increased basophil count, Ch... ORPHA:98849
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Short stature, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Ventricular septal defect, Death in infancy,... OMIM:608978
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... ORPHA:2133
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Autoimmune th... ORPHA:1959
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophi... ORPHA:276556
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hypogonadism, Adrenal insuff... ORPHA:300298
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly, Intrauterine growth retardation ORPHA:3035
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Hepatic st... ORPHA:699
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Splenomegaly, Ventricular septal defect, Pulmonary hypoplasia, A... OMIM:608149
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... OMIM:615513
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cerebellar hypoplasia, Pulmonary hypoplasia, Pleural effusion, Hypertr... OMIM:616897
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Syncope, Maternal diabetes, Hyperinsulinemic hypoglycemia, Maturity-onset diabe... ORPHA:324575
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery... ORPHA:3384
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Marden-Walker Syndrome
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Pulmon... OMIM:248700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopen... ORPHA:277
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Periportal fibrosis, Ventricular septal defect, Anencephaly, Pulmonary hypo... OMIM:269860
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia ORPHA:90037
Tonne-Kalscheuer Syndrome
Short stature, Decreased testicular size, Pulmonary hypoplasia, Growth delay, Abnormal heart morp... OMIM:300978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Abnormal natural killer cell physiology, Decr... OMIM:613101
American Trypanosomiasis
Congestive heart failure, Pallor, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenom... ORPHA:3386
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, Lymphadenopathy, Ab... OMIM:150550
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Short stature, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:98870
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Pallor, Autoimmune ... ORPHA:90033
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Elevated hepatic transaminase, Congestive hear... OMIM:613313
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Anemia, Splenomegaly ORPHA:1046
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Hypopituitarism, Erythroid hyperplasia, Pallor, Delaye... OMIM:600462
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Defective T cell proliferation, Increased circulating IgG level, Decreased propor... OMIM:618534
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Short stature, Bronchiectasis, Increased proportion of transitional B... OMIM:616005
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepatosp... ORPHA:3260
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Short stature, Death in infancy OMIM:602361
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Cardiomegaly, Death in childhood, Vacuolated lymphocytes,... OMIM:269920
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Pulmonary hypoplasia, Abnormal lung lobation, Periportal fibrosis OMIM:263210
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Short stature, Jaundice, Abnormality of the pulmonary artery, ... ORPHA:290
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Ataxia ORPHA:98293
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall... OMIM:300908
Pagod Syndrome
Sudden cardiac death, Meningocele, Encephalocele, Short stature, Death in infancy, Spina bifida, ... ORPHA:991
1Q41Q42 Microdeletion Syndrome
Short stature, Pulmonary hypoplasia, Hyposegmentation of neutrophil nuclei, Growth delay, Hypergo... ORPHA:250999
Ogden Syndrome
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... OMIM:300855
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... ORPHA:100024
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura, Short stature ORPHA:3204
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Death in childhood, Hepatomegaly, Pallor OMIM:246450
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Sepsis In Premature Infants
Hypotension, Anemia, Petechiae, Jaundice, Purpura, Pallor, Tachycardia, Hepatomegaly, Leukocytosi... ORPHA:90051
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... OMIM:242700
Rheumatic Fever
Endocarditis, Abnormal pleura morphology, Abnormal mitral valve morphology, Abnormal aortic valve... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Tachy... ORPHA:276608
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, S... ORPHA:731
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Cerebellar hypoplasia, Pulmonary hypoplasia, Conge... ORPHA:3309
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Severe short stature, Disproportionate short-limb short stature, Cryptorchi... OMIM:224410
Peripheral Cone Dystrophy
Pallor OMIM:609021
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Double outlet right ventricl... ORPHA:185
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... OMIM:606367
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Short stature, Bronchiectasis, ... OMIM:208900
Pentalogy Of Cantrell
Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, An... ORPHA:1335
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Ventricular septal defect, Hepatitis, Type I diabet... ORPHA:436252
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Greenberg Dysplasia
Rhizomelia, Abnormal lung lobation, Pulmonary hypoplasia, Hepatosplenomegaly, Disproportionate sh... OMIM:215140
22Q11.2 Deletion Syndrome
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Impaired T cell functi... ORPHA:567
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Hepatic steatosis, Hepatomegaly, Neonatal death, Hepatic periport... OMIM:231680
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Bone marrow ... OMIM:618116
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Elevated hepatic transaminase, Hepatocellular carcinoma, Congestive he... OMIM:235200
Primary Pulmonary Hypoplasia
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Recurrent respir... ORPHA:2257
Meckel Syndrome, Type 1
Asplenia, Dilated fourth ventricle, Chiari malformation, Abnormal cardiac septum morphology, Cere... OMIM:249000
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Odontochondrodysplasia 1
Short stature, Death in infancy, Pulmonary hypoplasia, Mesomelic short stature, Recurrent respira... OMIM:184260
Optic Atrophy 1
Pallor OMIM:165500
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Thrombocytopeni... OMIM:614700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Hypoplasia of the thymus, Con... ORPHA:40366
Mast Cell Sarcoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Achondrogenesis Type 2
Pulmonary hypoplasia, Short stature ORPHA:93296
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... ORPHA:137675
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Pulmonary hypoplasia, Intrauterin... ORPHA:86822
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Abs... OMIM:613501
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Short stature, D... OMIM:616050
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Elevated hepatic tra... OMIM:557000
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Double outlet right ventricle, Bronchiectasis, Polysplenia... ORPHA:244
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Pulmonary hypoplasia, Disproportionate short-trunk sh... OMIM:608022
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:312150
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Disproportionate short-limb short stature, Neonatal death, Pul... OMIM:187600
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pulmonary hypoplasia, Pancreatic fibrosis, Hepato... OMIM:200995
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpitations, Bone ... ORPHA:86839
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocy... OMIM:619705
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Histiocytosis, Lymphadenopathy, Throm... OMIM:209950
Letterer-Siwe Disease
Anemia, Jaundice, Hepatosplenomegaly, Pallor, Thrombocytopenia, Neutropenia OMIM:246400
Fetal Akinesia Deformation Sequence
Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation, Intrauterine growth retardation ORPHA:994
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, ... ORPHA:96179
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Anencephaly, Agenesis of corpus callosum, Left ventricular hypertro... OMIM:619148
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... OMIM:615518
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Anemia, Myeloid leukemia, Usual interstitial pneumonia, Reticular pattern on pulmonary... OMIM:614742
Transaldolase Deficiency
Cirrhosis, Telangiectasia, Anemia, Premature skin wrinkling, Atrial septal defect, Hepatosplenome... ORPHA:101028
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... OMIM:233650
Absence Of The Pulmonary Artery
Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum morphology, Pu... ORPHA:980
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Cerebellar hypoplasia, Pulmonary hypoplasia, Lymphopenia, Interstitial emphysema,... OMIM:619708
Neonatal Lupus Erythematosus
Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Mulibrey Nanism
Pericardial constriction, Short stature, Congestive heart failure, Myocardial fibrosis, Growth de... OMIM:253250
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Growth delay, Abnormality of the adrenal glands,... ORPHA:139466
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Pallor, Eosinophilia, T... ORPHA:90045
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Pneumonia, H... OMIM:226990
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly OMIM:611804
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... ORPHA:2847
Smith-Lemli-Opitz Syndrome
Precocious puberty, Pulmonary hypoplasia, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatom... OMIM:270400
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Cerebral hemorrhage, Death in infancy, Cerebellar hypoplasia, Hypertension... OMIM:618886
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Petechiae, Hepatosplenomegaly, Epistaxis, Hepatomegaly, E... OMIM:612840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Elevated hepa... ORPHA:158057
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Enlarged kidney, Pulmonary hypoplasia, Dextrocardia, Neonatal deat... OMIM:314390
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Short stature, Abnormal cardiac septum morphology, Pulmonar... OMIM:308050
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Non-Functioning Pituitary Adenoma
Hypotension, Adrenal insufficiency, Anterior hypopituitarism, Increased circulating gonadotropin ... ORPHA:91349
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... OMIM:278000
Felty Syndrome
Anemia, Neutropenia, Pleuritis, Recurrent pharyngitis, Pericarditis, Recurrent pneumonia, Lymphad... ORPHA:47612
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:253290
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent respiratory infections, Decreased circulating total IgM, Ab... OMIM:613500
Nephronophthisis 2
Pulmonary insufficiency, Enlarged kidney, Hypertension, Pulmonary hypoplasia, Situs inversus totalis OMIM:602088
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Leukopenia, Anemia, Short stature, Reticulocytopenia, B lymphocytopeni... ORPHA:508542
Common Variable Immunodeficiency
Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Decreased circulating... ORPHA:1572
Mosaic Trisomy 1
Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hypoplasia, Pulmonary hypopla... ORPHA:1692
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Hepatomegaly, Eosinophilia, Elevated proportion of CD4-negative... OMIM:603909
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... OMIM:618278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, Panhypogammaglobulinemia, T lym... ORPHA:79124
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pericardial effusion, Pancytopenia, Aut... OMIM:613011
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Type I di... OMIM:619707
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer, Recurrent sinusitis, Pneumonia, Recurrent respi... ORPHA:217390
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Immunodeficiency 9
Hypoplasia of the thymus, Death in infancy OMIM:612782
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... OMIM:614069
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Abnormal pulmonary interstitial morpholog... ORPHA:77259
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Recurrent lower re... OMIM:615966
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated... ORPHA:20
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... OMIM:300751
Gaucher Disease, Type I
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Anemia, Hypersplenis... OMIM:230800
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Short stature, Death in infancy, Jau... OMIM:208500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid ... OMIM:616860
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Pulmonary hypoplasia, Miscarriage, Severe short stature, Abnormal heart morphology... ORPHA:1865
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... OMIM:619281
Congenitally Uncorrected Transposition Of The Great Arteries
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... ORPHA:860
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Short stature ORPHA:1486
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Retinitis Pigmentosa 27
Pallor OMIM:613750
Tarp Syndrome
Cerebellar hypoplasia, Pulmonary hypoplasia, Atrial septal defect, Cryptorchidism, Extramedullary... ORPHA:2886
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... OMIM:301078
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Anencephaly, Pulmonary hypoplasia, Bilobed right lung, Bile... OMIM:612284
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Anemia, Ventricular septal def... OMIM:606003
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Tricuspid regurgitation, Abse... OMIM:612289
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated hepatic transaminase, Purpura, Lymphopenia, Hypogonadotropic hypogona... OMIM:604250
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia, Agenesis of corpus c... OMIM:202650
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature, Cerebellar hypoplasia, Supernumerary nipple, Pulmonary ... OMIM:612530
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Biventricular... OMIM:618280
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Short stature, Circulating nucleate... OMIM:613673
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Death in infancy, Perimembranous ventricular septal defect, Cholestasis, ... OMIM:608104
Distal Tetrasomy 15Q
Pulmonary hypoplasia, Atrial septal defect, Hydrocele testis, Abnormal heart morphology, Intraute... ORPHA:314588
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Congestive heart failure, Pulmonary hypoplas... OMIM:616866
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Pulmonary hypoplasia, Stillbirth, Neonatal short-limb short stature OMIM:151210
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Pulmonary hypoplasia, Redundant neck skin, Intrahepatic biliary dysgen... OMIM:214100
Neu-Laxova Syndrome
Lack of skin elasticity, Hypogonadism, Cerebellar hypoplasia, Spina bifida, Abnormal cerebellar v... ORPHA:2671
Congenital Tracheomalacia
Pulmonary arterial hypertension, Pneumothorax, Ventricular septal defect, Bronchiectasis, Cutis l... ORPHA:95430
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Caudal Regression Syndrome
Chiari malformation, Arrhinencephaly, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Cryp... ORPHA:3027
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... OMIM:612692
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Hepatic fibrosis, Anemia, Hypothyroidism, ... OMIM:620005
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Autosomal Recessive Multiple Pterygium Syndrome
Short stature, Hypogonadism, Abnormal aortic valve morphology, Pulmonary hypoplasia, Spina bifida... ORPHA:2990
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:251230
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Alg9-Cdg
Periportal fibrosis, Rhizomelia, Ventricular septal defect, Pericardial effusion, Enlarged kidney... ORPHA:79328
Fumarase Deficiency
Hepatic failure, Polycythemia, Pallor, Cholestasis, Agenesis of corpus callosum OMIM:606812
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Fryns Syndrome
Ventricular septal defect, Polysplenia, Arrhinencephaly, Agenesis of corpus callosum, Pulmonary h... OMIM:229850
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Ventricular septal defect, Spina bifida, Abnormal lung lobat... ORPHA:99776
Neuraminidase Deficiency
Short stature, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Spleno... OMIM:256550
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Pallor, Lymphadenopathy, Abnormal pulmonary valve morpho... ORPHA:667
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Recurrent sinusitis, Hepatic steato... OMIM:188400
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs... ORPHA:2570
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Death in infancy, Decreased circulating cortisol level, Decreased liver function, Neonata... OMIM:618839
Meckel Syndrome 14
Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Mitral regurgitation, Single ventricle, Occ... OMIM:619879
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Death in infancy, Decreased circulating cortisol level, Hypertrophic cardiomyopathy, Decr... OMIM:618835
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Omenn Syndrome
Hypothyroidism, Anemia, Thyroiditis, Lymphadenopathy, Dry skin, Hepatomegaly, Eosinophilia, Leuko... ORPHA:39041
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Prolidase Deficiency
Anemia, Petechiae, Increased circulating antibody level, Skin ulcer, Elevated circulating asparta... OMIM:170100
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Hyperinsulinemic hypoglycemia, Pallor, Increased... ORPHA:263455
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Spinal dysraphism, Ventricular septal defect, Short stature, Cut... ORPHA:96334
Myelofibrosis
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Bilateral tri... OMIM:306955
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Pulmonary ... ORPHA:57777
Niemann-Pick Disease, Type A
Inability to walk, Irritability, Lymphadenopathy, Athetosis, Splenomegaly OMIM:257200
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Anemia, Hemolytic anemia, Lateral ventricle dilatation, Pericar... OMIM:619487
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Abnormal test... ORPHA:54251
Pituitary Apoplexy
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:95613
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... OMIM:611812
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Mosaic Trisomy 16
Ventricular septal defect, Maternal diabetes, Pulmonary hypoplasia, Atrial septal defect, Abnorma... ORPHA:1708
Fanconi Anemia, Complementation Group C
Anemia, Ventricular septal defect, Short stature, Leukemia, Reticulocytopenia, Pancytopenia, Bone... OMIM:227645
Q Fever
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Perica... ORPHA:781
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Lateral ventricle dilatatio... OMIM:263520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, P... ORPHA:83617
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia, Spina bifida, Short umbil... OMIM:256520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:614091
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Pallor, Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Atrioventricular canal defect, Chiari malformation, Pulmonary artery dilatation, Pleura... OMIM:265380
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, ... ORPHA:464329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... ORPHA:563
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Asplenia, Atrial reentry tachycardia, Atrioventricular canal defect, Abd... OMIM:270100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:300853
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Non-caseating... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Non-caseating... ORPHA:227990
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Pulmonary hypoplasia, Spina bifida occulta, Dextrocardia, Hypopla... ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... ORPHA:99050
Meier-Gorlin Syndrome 7
Ventricular septal defect, Short stature, Pulmonary hypoplasia, Atrial septal defect, Heart block... OMIM:617063
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Tetraploidy
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Intrauterine growth retardatio... ORPHA:3305
Dpagt1-Cdg
Anemia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Elevated hepatic transaminase, Int... ORPHA:86309
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia ORPHA:391
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Short stature, Hydrocele testis, Atrial septal defect, Pulmonary hypop... OMIM:145420
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Bronchiectasis, Emphysema ORPHA:1164
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia, Atrial septal defect, Cryptorchidism, Agenesis of corpus cal... ORPHA:85201
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:958
Diamond-Blackfan Anemia 1
Ventricular septal defect, Short stature, Reticulocytopenia, Congestive heart failure, Atrial sep... OMIM:105650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Cerebellar hypoplasia, Pulmonary hypoplasia, Stillbirth, Cryptorchidis... OMIM:616300
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Death in infancy, Elevated hepatic transaminase, Hepatomegaly, C... OMIM:619064
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Hypothyroidism, Decreased circulating antibody level, Growth delay, H... OMIM:226300
Degcags Syndrome
Hepatosplenomegaly, Tachycardia, Hepatomegaly, Pneumonia, Patent foramen ovale, Ventricular septa... OMIM:619488
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Howell-Jolly bodies, Abnormality of the liver, Anemia... ORPHA:85443
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2725
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... OMIM:252920
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... OMIM:618969
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Myocarditis, Brain abscess, Pleural empyema, Hemolytic anemia, Pleur... ORPHA:544482
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Decreased circulating antib... OMIM:618108
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Petechiae, Pancytopenia, Bone marrow hypoce... OMIM:620133
Sickle Cell Disease
Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hypertension, Increased red cell si... OMIM:603903
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Short stature, Reticulocytopenia, ... ORPHA:124
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Timothy Syndrome
Bronchitis, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interva... OMIM:601005
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Atelosteogenesis Type I
Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Neonatal short-trunk short... ORPHA:1190
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Miscarriage, Hepatosplenomegaly, Ani... ORPHA:71275
Von Hippel-Lindau Disease
Pancreatic cysts, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated circulating cate... ORPHA:892
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, I... OMIM:614702
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Thrombocytopenia, Patent foramen ovale, Th... ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Cirrhosis, Anemia, Cerebellar hypoplasia, Hepatic necrosis, Interstitial pneumonitis,... OMIM:127550
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Fryns Syndrome
Abnormal cardiac septum morphology, Agenesis of corpus callosum, Pulmonary hypoplasia, Cryptorchi... ORPHA:2059
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Left ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Cardio... OMIM:617713
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Situs inversus totalis OMIM:612776
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Elevated jugular venous pressure, Cholangiocarcinoma, Hepatocellular c... ORPHA:465508
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Death in infancy, Aplasia/Hypoplasia of the lungs, Spina bifida, B... ORPHA:1120
Fanconi Anemia, Complementation Group D2
Anemia, Short stature, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Abnormal hea... OMIM:227646
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature ORPHA:474
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Short stature, Death in i... OMIM:601559
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... ORPHA:83471
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... OMIM:618048
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor OMIM:616959
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Recurrent bronchitis, Situs inversus totalis, Pneumonia, Atelectasis OMIM:244400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia, Short stature, Ventricular septal defect OMIM:615503
Fetal Akinesia Deformation Sequence 1
Cerebellar hypoplasia, Short umbilical cord, Pulmonary hypoplasia, Stillbirth, Cryptorchidism, Sm... OMIM:208150
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Jaundice, Congestive heart failure, ... ORPHA:615
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Desmoplastic Small Round Cell Tumor
Anemia, Ovarian neoplasm, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopath... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Bronchopulmonary Dysplasia
Pulmonary sequestration, Emphysema, Right ventricular failure, Abnormal lung morphology, Right ve... ORPHA:70589
Restrictive Dermopathy 1
Short umbilical cord, Hydropic placenta, Pulmonary hypoplasia, Atrial septal defect, Scaling skin... OMIM:275210
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Death in infancy, Recurren... OMIM:612301
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Pulmonary hypoplasia, Stillbirth OMIM:200600
Congenital Enterovirus Infection
Hypotension, Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, He... ORPHA:292
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow h... OMIM:615688
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Distal Monosomy 15Q
Mitral atresia, Double outlet right ventricle with doubly committed ventricular septal defect and... ORPHA:1596
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology ORPHA:1548
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... ORPHA:99125
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Cirrhosis, Short stature, Emphysema, Portal hypertension OMIM:210050
Achondroplasia
Rhizomelia, Pulmonary hypoplasia, Death in infancy, Neonatal short-limb short stature OMIM:100800
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Alveolar Echinococcosis
Pancreatic cysts, Abnormal pericardium morphology, Biliary cirrhosis, Hepatic cysts, Anemia, Abno... ORPHA:284
Gaucher Disease Type 3
Pulmonary arterial hypertension, Mitral valve calcification, Abnormal pulmonary interstitial morp... ORPHA:77261
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Disproportionate short stature, Severe short stature, Umbilical ... ORPHA:93298
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation t... ORPHA:293978
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Rhizomelia, Short stature, V... ORPHA:818
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Pericardial effusion, Generalized lymphadenopathy, Hepatic steatosis, Hypertrophi... OMIM:615846
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Emphysema, Pleura... ORPHA:36412
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... OMIM:212140
Tetrasomy 9P
Absent gallbladder, Pulmonary arterial hypertension, Biliary atresia, Patent foramen ovale, Abnor... ORPHA:3310
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Parathyroid adenoma, Neoplasm of the liver, Parath... ORPHA:653
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary hypoplasia, Pulmonary venous occlusion, Br... ORPHA:2260
Raine Syndrome
Neonatal death, Pulmonary hypoplasia, Short stature, Death in infancy OMIM:259775
Renal Tubular Dysgenesis
Hypotension, Pulmonary hypoplasia OMIM:267430
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Severe short stature, Umbilical hernia ORPHA:932
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Recurrent respiratory infections, Short stature, Chiari malformation, I... OMIM:264090
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Short stature, Pancytopenia, Abnormal heart morphology, Hypergonadotro... OMIM:600901
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death, Pulmonary hypoplasia, Complete atrioventricular canal defect,... OMIM:617925
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2145
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Pallor ORPHA:54028
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Pallor, Hepatic steatosis, Hepatomegaly, Tachycardia ORPHA:348
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... OMIM:619418
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Osteogenesis Imperfecta
Rhizomelia, Short stature, Cerebral hemorrhage, Cutis laxa, Mitral valve prolapse, Pulmonary hypo... ORPHA:666
Alpha-1-Antitrypsin Deficiency