Gene Summary

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

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Fubp1em1(IMPC)Mbp HET Early adult 3.27×10-07
abnormal lymph node morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
hypoactivity Fubp1em1(IMPC)Mbp HET Early adult 1.63×10-05
enlarged lymph nodes Fubp1em1(IMPC)Mbp HET Early adult 0.00
increased exploration in new environment Fubp1em1(IMPC)Mbp HET Early adult 7.15×10-05
preweaning lethality, complete penetrance Fubp1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal behavior Fubp1em1(IMPC)Mbp HET Early adult 1.06×10-07
abnormal skin morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
decreased thigmotaxis Fubp1em1(IMPC)Mbp HET Early adult 1.07×10-07

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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.


XRay Images Whole Body Dorso Ventral

48 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Fubp1 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Agenesis of corpus callosum, Patent foramen ovale, Hypoplasia of the corpus... ORPHA:89844
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Hypogonadism, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpu... OMIM:615234
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood, Agammaglobulinemia OMIM:200900
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Redundant neck skin, Intra... OMIM:619003
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splen... OMIM:615631
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Enlarged kidney, Cholestasis, Hepatomegal... OMIM:615415
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Growth dela... OMIM:612541
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy, Hypertrophic cardiomyopathy OMIM:614096
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Cerebral atrophy, Cerebellar hypoplasia, Thrombocytopenia, Pancytopenia, He... OMIM:613839
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia, Hydranence... OMIM:236500
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Recurrent respiratory infections, Thrombocytopenia, Bone m... ORPHA:3226
Mirage Syndrome
Cryptorchidism, Intracranial hemorrhage, Hypergonadotropic hypogonadism, Lymphopenia, Intrauterin... OMIM:617053
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Recurrent bronchiolitis, Death... OMIM:619164
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Postnatal growth retardation, Pulmonary hypoplasia, Left ventricular hypertrophy, I... OMIM:616733
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal de... OMIM:601186
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Wide nasal bridge, Neonatal death, Pulmonary hypoplasia, Disproportionate short-l... OMIM:224410
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth, Abnormality of the endocrine system OMIM:274210
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Abnormal li... ORPHA:3032
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy,... ORPHA:824
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Pancreatic cysts, Hepatic cysts, Periportal fibrosis, Hypertension, Hepatomegaly... OMIM:263200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Megaloblastic ane... ORPHA:49827
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Panhypogammaglobulinemia, Cirrhosis, Hypoplasia of the thym... ORPHA:84064
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia, Cerebellar hypoplasia OMIM:615228
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Abnormal heart morphology, Death in infancy, Pulmonary hypopl... OMIM:241800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Recurrent upper and lower respiratory tract infections, Autoimmune... ORPHA:331206
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin, ... ORPHA:163596
Apolipoprotein A-I Deficiency
Lymphadenopathy, Splenomegaly ORPHA:425
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Cerebral atrophy, Pancytopenia, Thrombocytopenia, Cerebellar atrop... OMIM:610333
Cernunnos-Xlf Deficiency
T lymphocytopenia, Bulbous nose, Decreased circulating antibody level, Lymphopenia, Growth delay,... ORPHA:169079
Kerion Celsi
Lymphadenopathy ORPHA:499
Retinohepatoendocrinologic Syndrome
Hypothyroidism, Maturity-onset diabetes of the young, Degenerative liver disease, Pallor OMIM:268040
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Jaundice, Cerebral calcification, ... ORPHA:858
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Ventricular septal defect, Autoimmune hemolytic anemia, Hematochezia, Hypopl... OMIM:243150
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia OMIM:602079
Fanconi Anemia, Complementation Group I
Atrial septal defect, Agenesis of corpus callosum, Patent foramen ovale, Absent septum pellucidum... OMIM:609053
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Cerebral calcification, Splenomegaly ORPHA:3035
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Dysplastic Cortical Hyperostosis
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Short stature, Splenomegaly, Microcephaly ORPHA:2204
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Cerebral atrophy, Hepatomegaly, Congestive heart failure, Death in childh... OMIM:269920
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Thanatophoric Dysplasia
Atrial septal defect, Redundant skin, Pulmonary hypoplasia, Intrauterine growth retardation, Disp... ORPHA:2655
Tonne-Kalscheuer Syndrome
Cryptorchidism, Abnormal heart morphology, Growth delay, Decreased testicular size, Wide nasal br... OMIM:300978
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary ... OMIM:615524
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, B... OMIM:208540
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Ventricular septal defect, Pleural effusion, Cerebellar hypoplasia, Wide nasal bridge... OMIM:616897
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Laryngomalacia, Hepatomegaly, Pulmonic stenosis,... OMIM:608149
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Recurrent upper respiratory t... ORPHA:277
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morpholo... ORPHA:98375
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hypoplasia of the thy... OMIM:214110
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Abnormality of the basal... ORPHA:86822
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Abnormal spleen morphology, Pulmonary hypoplasia, Intra... ORPHA:2470
Renal Tubular Dysgenesis
Microcephaly, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Death in infancy, Stillbirth, Depressed nasal bridge OMIM:256050
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Waldenstr├Âm Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Pleural effusion, Epistaxis, Mo... ORPHA:33226
Pearson Syndrome
Cardiac conduction abnormality, Reticulocytosis, Neutropenia, Postnatal growth retardation, Pancr... ORPHA:699
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares, Adrenal hypoplasia OMIM:613124
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Marden-Walker Syndrome
Cryptorchidism, Cerebellar hypoplasia, Postnatal growth retardation, Dextrocardia, Pulmonary hypo... OMIM:248700
Greenberg Dysplasia
Abnormal lung lobation, Tracheal calcification, Stillbirth, Pleural effusion, Extramedullary hema... OMIM:215140
Acitretin/Etretinate Embryopathy
Bradycardia, Hypoplasia of the thymus, Hypoplastic nasal septum, Third degree atrioventricular bl... ORPHA:40366
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Lymphadenopathy, Normocy... ORPHA:98849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hypothyroidism, Growth delay, Reticulocytopenia, Anisopoikilocytos... ORPHA:300298
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Syncope, Hepat... ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Decreased mean corpuscular volume, Hepatospleno... OMIM:611590
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Adrenal hypoplasia, Arnold-Chiari malformation, Abnormality of ... OMIM:249000
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Acute leukemia, Purpur... ORPHA:906
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in presence of a... ORPHA:1959
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Thrombocytopeni... ORPHA:290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Abnormal cerebral white matter morphology, Hepatomegaly, Death in childhood, Anemia, Microcephaly... OMIM:246450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly... OMIM:618986
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy ORPHA:56425
Truncus Arteriosus
Abnormal heart valve physiology, Pulmonary edema, Pulmonary artery stenosis, Cardiomegaly, Adreno... ORPHA:3384
Death in infancy, Cardiomegaly OMIM:227150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Abnormal natural killer cell phys... OMIM:613101
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Pagod Syndrome
Spina bifida, Arrhythmia, Situs inversus totalis, Abnormal testis morphology, Death in infancy, P... ORPHA:991
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Microcephaly, Aplasia/Hypoplasia of the lungs, Anemia, Splenomegaly ORPHA:1046
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, ... OMIM:263210
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglyce... ORPHA:324575
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Bone Marrow Failure Syndrome 4
Rhizomelia, Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Hepatic steatosis, Hepatic periportal necrosis, Hepatomegaly, Jaundice, Neonatal deat... OMIM:231680
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Growth delay, Hyposegm... ORPHA:250999
Short nose, Enlarged kidney, Tracheomalacia, Abnormal liver lobulation, Disproportionate short-tr... OMIM:608022
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:236640
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... OMIM:150550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Wide nasal... OMIM:618316
American Trypanosomiasis
Arrhythmia, Lymphadenopathy, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocarditis, P... ORPHA:3386
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Pulmonary infiltrates, Pallor, Hepatosplenomegaly OMIM:246400
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly, Pallor ORPHA:90037
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Abnormal cerebral white matter morphology, Congenital thrombocytopen... OMIM:618886
Fumarase Deficiency
Agenesis of corpus callosum, Polycythemia, Cerebral atrophy, Cholestasis, Polymicrogyria, Pallor,... OMIM:606812
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Reduced natural killer cell cou... OMIM:609981
Tetrasomy 5P
Short nose, Lipoma of corpus callosum, Cerebellar hypoplasia, Postnatal growth retardation, Wide ... ORPHA:3309
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom... OMIM:613313
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Tach... ORPHA:90033
Conjunctival telangiectasia, T lymphocytopenia, Recurrent bronchitis, Defective B cell differenti... OMIM:208900
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis OMIM:601160
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Single ventricle, Stillbirth, Umbilical hernia, Erythema, Mild intrauterine g... OMIM:308050
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Death in infancy, Pancytopenia, Thrombocytopenia, Neonatal d... ORPHA:85212
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Abnormal pleura ... ORPHA:2570
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Sho... ORPHA:98870
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Pulmonary embolism,... ORPHA:3260
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Retinitis Pigmentosa 42
Pallor OMIM:612943
22Q11.2 Deletion Syndrome
Cryptorchidism, Bulbous nose, Choanal atresia, Corneal neovascularization, Abnormality of the ton... ORPHA:567
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cerebral cortical atrophy, Hemoptysis, Pulmonary arterial hypertension... ORPHA:1164
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Rec... ORPHA:731
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Cerebellar hypoplasia, Thrombocytopenia, Anemia, Simplifie... OMIM:619302
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect, Periportal fibrosis, Anencephaly, Atelectasis, H... OMIM:269860
Retinitis Pigmentosa 60
Pallor OMIM:613983
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Pulmonary infiltrates, Pulm... OMIM:606367
Neu-Laxova Syndrome
Spina bifida, Abnormal cerebellar vermis morphology, Pachygyria, Absent septum pellucidum, Lack o... ORPHA:2671
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Lymphopenia, Emphysema, Recurrent bronchopulmonary infecti... OMIM:242700
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, An... ORPHA:1335
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia... OMIM:131400
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Elevated hepatic transaminase, Bronchiectasis, Autoimmune... ORPHA:1572
Optic Atrophy 9
Pallor OMIM:616289
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Mulibrey Nanism
Myocardial fibrosis, Hypoplastic frontal sinuses, Growth delay, Wide nasal bridge, Hepatomegaly, ... OMIM:253250
Retinitis Pigmentosa 81
Pallor OMIM:617871
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Abnormal cortical gyration, Pulmonary hypoplasia OMIM:616867
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Angina pectoris, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Pulm... ORPHA:447
Stormorken Syndrome
Epistaxis, Thrombocytopenia, Asplenia, Anemia, Short stature, Howell-Jolly bodies, Prominent nose OMIM:185070
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma,... OMIM:235200
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Ventricular septal defect, Autoimmune hemolytic anemia, Hashimoto thyroiditis... ORPHA:436252
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Tachycardia, Pallor, Pancreatic islet-cell hyper... ORPHA:276608
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Sepsis In Premature Infants
Purpura, Leukocytosis, Hypotension, Neutropenia, Thrombocytopenia, Hepatomegaly, Petechiae, Jaund... ORPHA:90051
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Cereb... ORPHA:90045
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Patent foramen ovale, Ventricular septal... OMIM:606003
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Recurrent upper respiratory tract infections, Lymphopenia, Neutrope... ORPHA:508542
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Death in infancy, Leukopenia, Anemia, Pulmonary arterial hypertension, Hy... OMIM:278000
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:98293
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cerebellar vermis hypoplasia, Cerebellar hypoplasia,... ORPHA:1692
Odontochondrodysplasia 1
Mesomelic short stature, Death in infancy, Pulmonary hypoplasia, Short stature, Recurrent respira... OMIM:184260
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Choanal atresia, Anencephaly, Wide nasal bridge, Pulmonic stenosis, Pulmonary hyp... OMIM:619148
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Leukocytosis, Pneumonia, ... OMIM:209950
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Pu... OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Jaundice, Anemia, Splenomegaly, Ly... OMIM:603552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal natural killer cell co... ORPHA:79124
Hemolytic anemia, Pericarditis, Abnormal pleura morphology, Abnormal lymphocyte morphology, Thyro... ORPHA:99867
Fontaine Progeroid Syndrome
Cryptorchidism, Death in infancy, Tricuspid regurgitation, Pulmonary arterial hypertension, Depre... OMIM:612289
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Fetal Akinesia Deformation Sequence
Cryptorchidism, Pulmonary hypoplasia, Intrauterine growth retardation, Dandy-Walker malformation,... ORPHA:994
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Tarp Syndrome
Cryptorchidism, Atrial septal defect, Extramedullary hematopoiesis, Cerebellar hypoplasia, Wide n... ORPHA:2886
Histiocytoid Cardiomyopathy
Cerebellar malformation, Agenesis of corpus callosum, Ventricular septal defect, Wolff-Parkinson-... ORPHA:137675
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Hypotension, Acute pancreatitis, Hep... ORPHA:20
Optic Atrophy 1
Pallor OMIM:165500
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Pulmonary hypoplasia, Simplified gyral pattern, Intrau... OMIM:251230
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Premature ovarian insuffi... ORPHA:100025
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Cyclic Vomiting Syndrome
Microcephaly, Growth delay, Pallor, Cardiomyopathy OMIM:500007
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Gaucher Disease, Type Ii
Cerebral atrophy, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneu... OMIM:230900
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Situs inversus t... ORPHA:244
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Pancytopeni... OMIM:614742
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae, Anemia, Splenomeg... OMIM:612840
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Achondrogenesis Type 2
Pulmonary hypoplasia, Short stature ORPHA:93296
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Serkal Syndrome
Ventricular septal defect, Growth delay, Pulmonic stenosis, Pulmonary hypoplasia, Abnormality of ... ORPHA:139466
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal... OMIM:214100
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... OMIM:616050
Opitz Gbbb Syndrome, Type Ii
Cavum septum pellucidum, Cryptorchidism, Atrial septal defect, Agenesis of corpus callosum, Ventr... OMIM:145410
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia, Intrauterine growth retardation ORPHA:295
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Premature skin wrinkling, Biventricular hypertrophy, Thrombocyto... ORPHA:101028
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Pleural effusion, In... ORPHA:3392
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Underdeveloped nasal alae, Decreased circulating total ... ORPHA:83617
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal lymphocyte morphology,... ORPHA:47612
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Growth delay, Cutis laxa, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilical... OMIM:613177
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Ly... ORPHA:37748
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Palpitations, Partial diaphragmatic absence of pericardium, Atrial septa... ORPHA:2847
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Cerebral calcification, Anemia, Leukopenia, Wide n... OMIM:617303
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopenia, Recurren... ORPHA:229717
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia, Anteverted nares OMIM:601163
Cardiac-Urogenital Syndrome
Cryptorchidism, Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defe... OMIM:618280
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Gaucher Disease, Type I
Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Abnormal pulmonary interstitial morpholo... OMIM:230800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Bone marrow ... ORPHA:86839
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent sinusitis, Pneumonia, B lymphocytop... ORPHA:217390
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Neutropenia, Pneumonia... OMIM:601495
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Meckel Syndrome, Type 6
Anencephaly, Hepatic fibrosis, Cystic liver disease, Pulmonary hypoplasia, Bile duct proliferation OMIM:612284
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Mosaic Trisomy 9
Cryptorchidism, Spina bifida, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abno... ORPHA:99776
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Decreased proportion ... OMIM:613011
Fetal Akinesia Deformation Sequence 1
Cavum septum pellucidum, Cryptorchidism, Short umbilical cord, Stillbirth, Absent septum pellucid... OMIM:208150
Neu-Laxova Syndrome 1
Cryptorchidism, Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular... OMIM:256520
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Anemia, Hypogonadotr... OMIM:604250
Caudal Regression Sequence
Cryptorchidism, Maternal diabetes, Arrhinencephaly, Hypertension, Pulmonary hypoplasia, Arnold-Ch... ORPHA:3027
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Growth delay, Cerebral atrophy, Pancytopenia, Thrombocy... OMIM:259720
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95513
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Growth delay, Pericardial effusion, Pulmonary ar... ORPHA:77259
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Polycystic liver disease, Death in infancy, Pancreatic... OMIM:208500
Scimitar Syndrome
Single ventricle, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonary arter... ORPHA:185
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Short stature ORPHA:1486
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Abnormal aortic valve morphology, Umbilical hernia, Pulmonary hypoplasia, Short s... ORPHA:2990
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Aplasia/Hypoplasia of the thymus, Aplasia/Hypoplasia of the lungs, Arnold-Chiari malformation, In... ORPHA:3305
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia OMIM:602088
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Increased... ORPHA:95613
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Short nose, Increased circulating ... OMIM:170100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Pneumonia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pachygyria, Ventricular septal defect, Abnormality of the larynx, Cerebella... OMIM:263520
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Gaucher Disease, Perinatal Lethal
Short nose, Purpura, Thrombocytopenia, Hepatomegaly, Petechiae, Cardiomegaly, Anemia, Splenomegal... OMIM:608013
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Cutis laxa, Spinal dysraphism, Postnatal growth retardation, Pulmonary artery ste... ORPHA:96334
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Nonarteriosclerotic cerebral calcification, Cirrhosis, Emphysema, Short stature, Hepatic failure,... OMIM:210050
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Abnormal heart valve morphology, Redundant skin, Emphysema, Cutis laxa,... ORPHA:90348
Rhabdoid Tumor
Irritability, Lymphadenopathy ORPHA:69077
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Decre... ORPHA:227990
Genitopatellar Syndrome
Cryptorchidism, Atrial septal defect, Pulmonary hypoplasia, Short stature, Microcephaly, Prominen... ORPHA:85201
Gracile Bone Dysplasia
Hypoplastic spleen, Short stature, Asplenia OMIM:602361
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Hypothyroidism, Bilateral cryptorchidism, Postnatal growth ... ORPHA:96179
Meier-Gorlin Syndrome 7
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal ... OMIM:617063
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Sheehan Syndrome
Palpitations, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostati... ORPHA:91355
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Fanconi Anemia, Complementation Group C
Anemic pallor, Cryptorchidism, Ventricular septal defect, Hypergonadotropic hypogonadism, Neutrop... OMIM:227645
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Short stature, Spleno... OMIM:256550
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, H... OMIM:611490
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Absent/hypoplastic paranasal sinuses, Vacuolated lymphocytes, Cerebral atrophy, Hepatomegaly, Car... OMIM:230000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Depressed nasal bridge OMIM:617895
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased circulating... OMIM:618394
Fryns Syndrome
Cryptorchidism, Atrial septal defect, Stillbirth, Ventricular septal defect, Arrhinencephaly, Pol... OMIM:229850
Kaposiform Lymphangiomatosis
Abnormality of the lymphatic system, Abnormal lung morphology, Epidural hemorrhage, Enlarged kidn... ORPHA:464329
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Pulmonary fibrosis, Growth delay, Cerebellar hypoplasia, Pancytopenia, Thrombocyt... OMIM:613990
Fanconi Anemia, Complementation Group D2
Anemic pallor, Cryptorchidism, Agenesis of corpus callosum, Abnormal heart morphology, Hypergonad... OMIM:227646
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Abnormal heart morphology, Pulmonary hypoplasia, Intraute... ORPHA:314588
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Death in infancy, Neonatal death, Decreased liver function,... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Death in infancy, Neonatal death, Decreased liver function,... OMIM:618835
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Elevated hepatic transaminase, Hepatomegaly, Tac... ORPHA:263455
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Elevated hepatic transaminase, Abnormal testis morphology, Liver absces... ORPHA:54251
Retinitis Pigmentosa 27
Pallor OMIM:613750
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Pneumonia, Lymphadenop... ORPHA:39041
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Cerebral calcification, Short ... OMIM:259775
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Retinitis Pigmentosa 70
Pallor OMIM:615922
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Porencephalic cyst, Type I truncus arteriosus, Arrhinencephaly, Fusion of the lef... OMIM:156810
X-Linked Agammaglobulinemia
Abnormal lung morphology, Neutropenia, Thrombocytopenia, Sinusitis, Hepatitis, Agammaglobulinemia... ORPHA:47
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:614091
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 55
Lymphadenopathy OMIM:617827
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenos... OMIM:611812
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Right ventricular failure, Abnormal respirator... ORPHA:70589
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Schimke Immunoosseous Dysplasia
Bulbous nose, Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutro... OMIM:242900
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Aphalangy With Hemivertebrae
Pulmonary hypoplasia, Ventricular septal defect OMIM:207620
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotr... ORPHA:293978
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Czeizel-Losonci Syndrome
Spina bifida, Hypoplastic nipples, Dextrocardia, Pulmonary hypoplasia, Spina bifida occulta, Myel... ORPHA:2437
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated hepatic transaminase, Underdeveloped nasal alae, Leukocytosis,... OMIM:610377
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Neonatal death, Pulmonary hypoplasia, Intrauterine growth reta... OMIM:266910
Mosaic Trisomy 16
Abnormal lung morphology, Maternal diabetes, Atrial septal defect, Abnormal heart morphology, Ven... ORPHA:1708
Q Fever
Pericarditis, Pericardial effusion, Abnormal left ventricular function, Pneumonia, Anemia, Myocar... ORPHA:781
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Abnormal heart morphology, Severe short stature, Wide nasal bridge, Pulmonary hyp... ORPHA:1865
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Disproportionate short-limb short stature, Depressed nasal bridge ORPHA:85166
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Emphysema, Pericardia... ORPHA:36412
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Panacinar emphysema, Chronic ... OMIM:613490
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Atelosteogenesis Type I
Rhizomelia, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Laryngeal stenosis, Pu... ORPHA:1190
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery s... ORPHA:667
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Atrial septal defect, Ventricular se... OMIM:105650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Growth delay, Cerebral atrop... OMIM:616084
Myopathic Ehlers-Danlos Syndrome
Pallor, Laryngomalacia ORPHA:536516
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypotension, Hypertension, Hepatomegaly, Pallor ORPHA:134
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia, Microcephaly, Bone marrow hypocellularity OMIM:615715
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium mo... ORPHA:563
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Fryns Syndrome
Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology, Cerebral cortical atrophy,... ORPHA:2059
Hoyeraal-Hreidarsson Syndrome
Cerebellar hypoplasia, Excessive wrinkled skin, Thrombocytopenia, Cerebral cortical atrophy, Cere... ORPHA:3322
Emphysema, Short stature, Anemia ORPHA:436
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... OMIM:252920
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal lung l... ORPHA:958
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Tricuspid regurgitatio... OMIM:618652
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Aplasia/Hypoplasia of... ORPHA:818
Tetrasomy 9P
Cryptorchidism, Pachygyria, Pericarditis, Bulbous nose, Lissencephaly, Patent foramen ovale, Abno... ORPHA:3310
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Short stature ORPHA:2725
Renal Tubular Dysgenesis
Hypotension, Microcephaly, Pulmonary hypoplasia OMIM:267430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Atrial septal defect, Short nose, Cerebral atrophy, Cerebellar atrophy, Pulmona... OMIM:614080
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Achondrogenesis Type 1B
Disproportionate short stature, Short nose, Severe short stature, Umbilical hernia, Aplasia/Hypop... ORPHA:93298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hypoplasia of... OMIM:618278
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Pulmonary hypoplasia, Congestive heart failure, Patent foramen ova... OMIM:616866
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Death in childhood, Cardiomegaly, ... OMIM:619064
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Pneumonia, Prolonged QT interval... OMIM:601005
Short nose, Umbilical hernia, Severe short stature, Aplasia/Hypoplasia of the lungs, Anteverted n... ORPHA:932
Stuve-Wiedemann Syndrome
Short nose, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Short stature, Pulmonary... OMIM:601559
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature ORPHA:474
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hemophagocytosis, Elevated hepatic transaminase, Purpura, Decreased circulating antib... ORPHA:540
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Complete atrioventricular canal defect, Neonatal death... OMIM:617925
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Hypertension OMIM:191830
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Bronchiectas... OMIM:618108
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Pancreatic cysts, Polycythemia, Pancreatic ... ORPHA:892
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypoplas... OMIM:270400
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Hypothyroidism, Hepatocellular carcinoma, Elevated jugular venous pressure... ORPHA:465508
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Short stature, Depressed na... OMIM:615503
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Pulmonary hypoplasia, Intrauterine growth retardation, Anteverted nares, De... OMIM:616503
Classic Hodgkin Lymphoma
Ataxia, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Niemann-Pick Disease, Type A
Inability to walk, Irritability, Splenomegaly, Athetosis, Lymphadenopathy OMIM:257200
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pulmonary fibrosis, Increased circulating IgA level, Lymphopenia, Telangiectasia,... OMIM:615934
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Johanson-Blizzard Syndrome
Short nose, Underdeveloped nasal alae, Exocrine pancreatic insufficiency, Death in infancy, Dextr... ORPHA:2315
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Emphysema, Acute infectious pneumonia, Myocardial in... ORPHA:60033
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Hemolytic anemia, Pleuritis, Leukocytosis, Hypertensive crisis, Pneu... ORPHA:544482
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Schinzel-Giedion Syndrome
Myeloid leukemia, Broad nasal tip, Short nose, Abnormal heart morphology, Hypoplasia of the corpu... ORPHA:798
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Arrhinencephaly, Pulmonary hypoplasia, Intrauterine growth retardat... ORPHA:3412
Restrictive Dermopathy, Lethal
Atrial septal defect, Short umbilical cord, Adrenal hypoplasia, Stillbirth, Choanal atresia, Pulm... OMIM:275210
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Pancreatic cysts, Increased circulating a... ORPHA:284
Esophageal Atresia
Maternal diabetes, Abnormal respiratory system morphology, Laryngotracheomalacia, Ventricular sep... ORPHA:1199
Retinitis Pigmentosa 73
Pallor OMIM:616544
Achondrogenesis Type 1A
Short nose, Umbilical hernia, Severe short stature, Aplasia/Hypoplasia of the lungs, Anteverted n... ORPHA:93299
Distal Monosomy 15Q
Cryptorchidism, Decreased serum insulin-like growth factor 1, Mitral atresia, Double outlet right... ORPHA:1596
Al Amyloidosis
Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Abnormal hea... ORPHA:85443
Axial Mesodermal Dysplasia Spectrum
Abnormality of the liver, Cerebral cortical atrophy, Aplasia/Hypoplasia of the lungs, Short statu... ORPHA:1834
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Aortic regurgitation, Hypertrophic cardiomyopathy, Umbilical hernia, Hepato... OMIM:252500
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Fanconi Anemia, Complementation Group E
Anemic pallor, Cryptorchidism, Abnormal heart morphology, Hypergonadotropic hypogonadism, Neutrop... OMIM:600901
Gaucher Disease Type 3
Abnormal heart valve morphology, Increased circulating antibody level, Growth delay, Pericardial ... ORPHA:77261
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Neoplasm of the lung, Anemia, Medi... ORPHA:83469
Otopalatodigital Syndrome Type 2
Short nose, Abnormal heart valve morphology, Hypoplastic frontal sinuses, Cerebellar hypoplasia, ... ORPHA:90652
Eec Syndrome
Choanal atresia, Hypoplasia of the thymus, Dry skin, Short stature, Anterior hypopituitarism, Dec... ORPHA:1896
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Patent foramen ovale, Pulmonary arterial hypertensi... ORPHA:391487
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pleural effusion, Hypotension, Pericardial effusion... ORPHA:292
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Palpitations, Hypertension associated with pheochromocytoma, Pheochromoc... ORPHA:653
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Anemia, Leukopenia, Lymphadenopathy, Purpura, Portal hypertension, Thrombocytosis, ... OMIM:615688
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Fanconi Anemia, Complementation Group A
Anemic pallor, Cryptorchidism, Abnormal heart morphology, Hypergonadotropic hypogonadism, Neutrop... OMIM:227650
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Short nose, Short stature ORPHA:2145
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Ventricular septal defect, Cerebellar vermis hypoplasia, Abdominal situs inversus... OMIM:619123
Acute Promyelocytic Leukemia
Ecchymosis, Purpura, Leukocytosis, Neutropenia, Epistaxis, Pancytopenia, Thrombocytopenia, Diffus... ORPHA:520
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardio... OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Retroperitoneal fibrosis, Ventricular septal defect, Hypergonadotropic hypo... OMIM:602782
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Orofaciodigital Syndrome Type 4
Absent testis, Short nose, Primary adrenal insufficiency, Growth delay, Decreased testicular size... ORPHA:2753
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology ORPHA:1548
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Boomerang Dysplasia
Cryptorchidism, Aplasia/Hypoplasia of the lungs, Severe short-limb dwarfism, Decreased response t... ORPHA:1263
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hypertension, Cholelithiasis, Hepatomegaly, Jaundice, Increased r... OMIM:603903
Lcat Deficiency
Lymphadenopathy, Splenomegaly ORPHA:650
Wolman Disease
Bone-marrow foam cells, Growth delay, Hepatomegaly, Adrenal insufficiency, Anemia, Splenomegaly, ... ORPHA:75233
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Death in infancy, Abnormal... ORPHA:1120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Pulmonary hypopl... OMIM:616546
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Carnitine Deficiency, Systemic Primary