Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Fubp1em1(IMPC)Mbp HET Early adult 7.38×10-07
abnormal skin morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00
abnormal behavior Fubp1em1(IMPC)Mbp HET Early adult 8.09×10-07
abnormal retina morphology Fubp1em1(IMPC)Mbp HET Early adult 6.55×10-05
preweaning lethality, complete penetrance Fubp1em1(IMPC)Mbp HOM   Early adult 0.00
decreased locomotor activity Fubp1em1(IMPC)Mbp HET Early adult 3.23×10-21
enlarged lymph nodes Fubp1em1(IMPC)Mbp HET Early adult 0.00
decreased anxiety-related response Fubp1em1(IMPC)Mbp HET Early adult 2.05×10-05
abnormal lymph node morphology Fubp1em1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Fubp1 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary h... OMIM:619003
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Cerebellar atrophy, Hypoplastic spleen, Agenesis of corpus callosum, Intrau... ORPHA:89844
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,... ORPHA:90064
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Stillbirth, Truncu... OMIM:615415
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Alveolar capillary dyspl... OMIM:601186
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia OMIM:615228
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Death in childhood, Impaired lymphocyte transformation with phytohem... OMIM:243150
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mirage Syndrome
Anemia, Petechiae, Adrenal hypoplasia, Aspiration pneumonia, Hypergonadotropic hypogonadism, Shor... OMIM:617053
Immunodeficiency 52
Defective T cell proliferation, Death in childhood, Lymphadenopathy, Abnormal natural killer cell... OMIM:617514
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, He... ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Recurrent respiratory infections, Lympha... ORPHA:3226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... ORPHA:231222
Beta-Thalassemia
Hepatomegaly, Skin ulcer, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, ... ORPHA:848
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath... OMIM:613561
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency 76
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurren... OMIM:619164
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leukocyt... ORPHA:824
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Dandy-Walker malformatio... ORPHA:3032
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pulmonary hypoplasia, Cerebellar dysplasia OMIM:616531
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P... OMIM:620642
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Skin ulcer, Increased circ... ORPHA:507
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Anemia, Petechiae, Neonatal death, Hepatosplenomegaly, Splenomegaly, Throm... OMIM:608013
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Neonatal death, Pulmonary hypoplasia, Ventricular septal... OMIM:615524
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Short stature, Pallor, Paroxysmal... ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Left ventricular hypertrophy, I... OMIM:616733
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa... ORPHA:231226
X-Linked Sideroblastic Anemia
Anemia, Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin, ... ORPHA:163596
Syndromic Diarrhea
Panhypogammaglobulinemia, Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic v... ORPHA:84064
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Epistaxis, Subarachnoid... OMIM:185070
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonar... OMIM:612541
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransferase concen... OMIM:614034
Kerion Celsi
Lymphadenopathy ORPHA:499
Hereditary Spherocytosis
Skin ulcer, Hepatomegaly, Jaundice, Cholelithiasis, Anemia, Spontaneous hemolytic crises, Increas... ORPHA:822
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Accessory spleen, Patent foramen ovale, Redundant ski... OMIM:613177
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Cerebellar hypoplasia, Pulmonary hypoplasia OMIM:618174
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-ma... OMIM:607616
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... OMIM:263200
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Abnormal T cell count,... OMIM:613495
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Immunodeficiency 105
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... OMIM:619924
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Patent foramen ovale, Short stature, Bone ... OMIM:609053
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Hydranencephaly, Neonatal death, Pulmonary hypoplasia, Cerebella... OMIM:236500
Pallister-Hall-Like Syndrome
Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Death in infancy, ... OMIM:241800
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Wiskott-Aldrich Syndrome
Hematemesis, Abnormal platelet function, Epistaxis, Hematochezia, Abnormal platelet morphology, L... ORPHA:906
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Waldenström Macroglobulinemia
Congestive heart failure, Purpura, Hepatomegaly, Gastrointestinal hemorrhage, Normocytic anemia, ... ORPHA:33226
Alg3-Cdg
Decreased liver function, Neural tube defect, Abnormality of the endocrine system, Dandy-Walker m... ORPHA:79321
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic i... ORPHA:276575
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Chiari type I malformation, Recurrent respiratory infect... OMIM:618316
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphade... ORPHA:858
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Redundant skin, Pulmonary hypoplasia, Intrauterine gro... ORPHA:2655
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Death in childhood, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the th... OMIM:214110
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic i... ORPHA:276580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Cerebellar atrophy, Poikilocytosis, S... OMIM:301310
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa... OMIM:617022
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, Cerebellar hyp... OMIM:616897
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse... ORPHA:276556
Meacham Syndrome
Congenital alveolar dysplasia, Stillbirth, Enlarged kidney, Transposition of the great arteries, ... OMIM:608978
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni... ORPHA:98849
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He... OMIM:611590
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Hypertrophic cardio... OMIM:620135
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Reticulocyt... ORPHA:300298
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Splenomeg... OMIM:608149
Laryngeal Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M... ORPHA:2133
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter... ORPHA:3384
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, Increased circulating IgE level, Lack of T cell funct... ORPHA:277
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly... OMIM:612387
Tonne-Kalscheuer Syndrome
Short stature, Decreased testicular size, Growth delay, Abnormal heart morphology, Pulmonary hypo... OMIM:300978
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Marden-Walker Syndrome
Postnatal growth retardation, Inferior cerebellar vermis hypoplasia, Dextrocardia, Dandy-Walker m... OMIM:248700
Hyperinsulinism Due To Hnf1A Deficiency
Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Maturity-onset diabe... ORPHA:324575
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Recurrent pneumonia, Abscess, Intermittent thrombocytopenia, ... OMIM:150550
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Anencephaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic ni... OMIM:269860
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Pallor ORPHA:90037
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Elevated circulating hepatic transaminase concentration, Melena, Increased mean corpuscul... ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ... OMIM:613101
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal... ORPHA:3386
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Hypop... OMIM:600462
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Pancreatitis, Atelectasis, Splenic cyst, Hydranencephaly, Patent foramen ova... OMIM:620371
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE l... OMIM:602450
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Emphysema, Lymphopenia, Recurrent bronchopulmonary infections, ... OMIM:242700
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... ORPHA:90033
Ataxia-Telangiectasia
Delayed puberty, Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia o... OMIM:208900
Gracile Bone Dysplasia
Death in infancy, Hypoplastic spleen, Short stature, Asplenia OMIM:602361
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Death in childhood, Vacuolated lymphocytes, Splenomegaly,... OMIM:269920
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Pulmonary hypoplasia, Periportal fibrosis OMIM:263210
Common Variable Immunodeficiency
Purpura, Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Recurrent... ORPHA:1572
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormality of the pulmonary artery, Short stature, Type I diabet... ORPHA:290
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Redundant neck skin, Redundant skin, Premature ventricu... OMIM:300855
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Decreased circulating antibody level, Dry skin, Short stature, Bone marrow hy... OMIM:618116
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida, Dea... ORPHA:991
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Death in infancy, Decreased circula... OMIM:612782
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... OMIM:254450
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Growth delay, Hyposegmentation of neutrophil nucle... ORPHA:250999
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Recurrent respiratory infections, Complete or near-comple... OMIM:613496
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Immunodeficiency 18
Defective T cell proliferation, Recurrent respiratory infections, Decreased proportion of CD3-pos... OMIM:615615
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m... ORPHA:185
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Purpura, Anemia, Asplenia ORPHA:3204
Tetrasomy 5P
Postnatal growth retardation, Congestive heart failure, Redundant neck skin, Pulmonary arterial h... ORPHA:3309
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Disproportionate short-limb short stature, Neonatal death, Pulmonary hyp... OMIM:224410
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Sepsis In Premature Infants
Decreased liver function, Purpura, Hepatomegaly, Jaundice, Anemia, Bradycardia, Petechiae, Hypote... ORPHA:90051
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Abnormal heart valve morpho... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Tachycardia, Hyperinsulinemic hypoglycemia, Pallor, Pancreatic islet-cell hyper... ORPHA:276608
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Secundum atrial septal defect, Pulmonary hypoplasia, Intrauterine gro... ORPHA:2257
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Biliary hyperplasia, Spl... ORPHA:731
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Large placenta, Hepatomegaly, Rhizomelia, Disproportionate sh... OMIM:215140
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Peripheral Cone Dystrophy
Pallor OMIM:609021
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level,... OMIM:606367
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Abnormal ductus choledochus morp... ORPHA:436252
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Abnormal pericardium morphology, Tetralogy of Fallot, Pulmonary hypop... ORPHA:1335
Classic Hodgkin Lymphoma
Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:391
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Splenomegaly, Umbil... ORPHA:567
Odontochondrodysplasia 1
Mesomelic short stature, Death in infancy, Short stature, Pulmonary hypoplasia, Recurrent respira... OMIM:184260
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Neonatal death, Pulmonary hypoplasia, Hepati... OMIM:231680
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent lower respiratory tract infe... OMIM:613501
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Reticular pattern on pulmonary HRCT, Mediastinal lymphadenopa... OMIM:614742
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial f... ORPHA:137675
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Accessory spleen, Dandy-Walker malformation... OMIM:249000
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, Hypoplasia of the thymus, Conotruncal defect, Third d... ORPHA:40366
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, Aplasia of... OMIM:102700
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Disproportionate short-trunk sh... OMIM:608022
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper... OMIM:615518
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... ORPHA:86839
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Megaloblastic anemia, Decreased circulating antib... ORPHA:90045
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Cerebellar hypoplasia, Pulmonary hypoplasia, Partial agenesis of... ORPHA:86822
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper r... OMIM:620296
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,... ORPHA:169079
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Respiratory infections in early life, Decreased response to growth ... ORPHA:96179
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, B lymphocy... OMIM:619705
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Neonatal death, Pulmonary hypoplasia, Disproportionate short-l... OMIM:187600
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Short stature, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage,... OMIM:616050
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Hepatic ... OMIM:200995
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Death in childhood, Neutro... OMIM:557000
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Neutrophilia,... OMIM:226990
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Dandy-Walker malformation, Cryptorchidism, Pulmonary hypoplasia ORPHA:994
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona... ORPHA:2847
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Hypoplasia of the pons, Pulmonary hypoplasia, Lymphopenia, Bronchiectasis, Ce... OMIM:619708
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Dandy-Walker malformation, Pulmonic stenosis, Short stature, Pulmonar... OMIM:619148
Transaldolase Deficiency
Cirrhosis, Anemia, Premature skin wrinkling, Hepatosplenomegaly, Thrombocytopenia, Atrial septal ... ORPHA:101028
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Recurrent lower respiratory tract infections, Pericardial... OMIM:253250
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Recurrent lower respiratory tract infections, Noncompaction car... ORPHA:508542
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent respiratory infections, Recurrent pneumonia, Decreased circ... OMIM:613500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Abnormal cardiac septum morphology, Adrenal hypoplasia, Thyroid hypoplasia, Short sta... OMIM:308050
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Serkal Syndrome
Abnormality of the adrenal glands, Pulmonic stenosis, Growth delay, Pulmonary hypoplasia, Ventric... ORPHA:139466
Fetal Cytomegalovirus Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Petechia... ORPHA:294
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypertension, Cerebellar atrophy, Death in infancy, Colpocephaly, Sple... OMIM:270400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
C1Q Deficiency 2
Facial erythema, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in... OMIM:620321
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia, Agenesis of corpus c... OMIM:202650
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Death in childhood, Anemia, Cardiac arrest, Elevated circulating alanine aminotrans... OMIM:246450
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Leukocytosis, Lymphadenitis, Death in infancy, Cerebral hemorrhage, Cardiom... OMIM:618886
Cholesteryl Ester Storage Disease
Death in infancy, Acute hepatic failure, Splenomegaly, Leukopenia, Hepatic steatosis, Increased h... OMIM:278000
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Pulmonary artery atresia, Pulmonary hypoplasia, Lateral ventricle d... ORPHA:1692
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly... OMIM:612840
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged... ORPHA:398124
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia OMIM:611804
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circulating IgG ... OMIM:614069
Felty Syndrome
Hepatomegaly, Anemia, Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Abnormal lymphocyte morp... ORPHA:47612
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, Abnormal natural killer cell morphology, Cerebellar... OMIM:615966
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Secundum atrial septal defect, Pu... OMIM:616866
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia OMIM:602088
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Death in childhood, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic s... OMIM:618278
Cyclic Vomiting Syndrome
Growth delay, Pallor, Cardiomyopathy OMIM:500007
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pa... ORPHA:20
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Abnormal heart morphology, Pulmonary hypoplasia, Severe short stature... ORPHA:1865
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Panhypogammaglob... ORPHA:79124
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Parag... ORPHA:94080
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... OMIM:619281
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular fail... ORPHA:70589
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pul... OMIM:230800
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, Recurrent sinu... ORPHA:217390
Niemann-Pick Disease, Type A
Irritability, Lymphadenopathy, Inability to walk, Athetosis, Splenomegaly, Cherry red spot of the... OMIM:257200
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Jaundice, Recurrent respiratory infections, Bile duct proliferation, Pol... OMIM:208500
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Anemia,... OMIM:613990
Fontaine Progeroid Syndrome
Redundant skin, Death in infancy, Abnormal heart morphology, Recurrent aspiration pneumonia, Umbi... OMIM:612289
Lethal Congenital Contracture Syndrome Type 1
Short stature, Pulmonary hypoplasia ORPHA:1486
Distal Triplication 15Q
Dandy-Walker malformation, Abnormal heart morphology, Pulmonary hypoplasia, Intrauterine growth r... ORPHA:314588
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Diffuse telangiectasia, Increased circulating antibody level, Anemia, P... OMIM:170100
Gaucher Disease Type 1
Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Pancytopenia, Sp... ORPHA:77259
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver... OMIM:612284
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Emphysema, Recurrent upper respiratory tract infections, Pulmonary arter... ORPHA:95430
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Short stature, Pulmonary hypoplasia, Cerebellar hypoplasia, Ventricular septal de... OMIM:612530
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Cerebellar atrophy, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemi... OMIM:616860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia OMIM:251230
Tarp Syndrome
Cryptorchidism, Tetralogy of Fallot, Pulmonary hypoplasia, Intrauterine growth retardation, Cereb... ORPHA:2886
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis, Decreased circulating IgG le... OMIM:612692
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, He... OMIM:606003
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Pulmonary fibrosis, Type I... OMIM:620365
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Short stature, Hepatic failure OMIM:210050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Pulmonary hypoplasia, Rhizomelia OMIM:151210
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Cirrhosis, Hepatomegaly, Jaundice, P... ORPHA:57777
Digeorge Syndrome
Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, He... OMIM:188400
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hypophosphatasia
Short stature, Emphysema, Anemia ORPHA:436
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Emphysema, Lymphadenopathy, Abnormal heart valve morpholog... ORPHA:36412
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Hepatomegaly, Death in childhood, Intrahepatic biliary dysgenesis, Adrenal h... OMIM:214100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen, Severe postnat... OMIM:620005
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Spina bifida occulta, Short stature, Pulmonary hypoplasia, Hypo... ORPHA:2990
Neu-Laxova Syndrome
Dandy-Walker malformation, Spina bifida, Pulmonary hypoplasia, Lack of skin elasticity, Hypogonad... ORPHA:2671
Tetraploidy
Chiari malformation, Aplasia/Hypoplasia of the thymus, Intrauterine growth retardation, Aplasia/H... ORPHA:3305
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo... OMIM:613673
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormal pleura morphology, Intrauterine growth retardation, Aplasia/Hypoplasia ... ORPHA:2570
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Cerebellar hypoplasia, Double inlet left ventricle, Dextrocardia, ... OMIM:270100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Optic Atrophy 1
Pallor OMIM:165500
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy, Muscula... OMIM:115197
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis, Decreased propo... OMIM:619652
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Abnormal heart valve morphology,... ORPHA:99776
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Dry skin, Leu... ORPHA:39041
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Rhizomelia, Abnormal... ORPHA:79328
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Tricuspid regurgitation, Pulmonary hypoplasia, Hepatic fib... OMIM:619879
Panhypophysitis
Central diabetes insipidus, Orthostatic hypotension, Normochromic anemia, Reduced circulating pro... ORPHA:95513
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial... OMIM:306955
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Extra... OMIM:617021
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infections, Pulmonary arterial hyper... ORPHA:667
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Short stature, Sple... OMIM:256550
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Cardiomyopathy, Death in infancy, Neonatal death, Decreased cir... OMIM:618839
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Normochromic anemia, Increa... ORPHA:95512
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, ... OMIM:618835
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Spina b... OMIM:105650
Fryns Syndrome
Stillbirth, Chylothorax, Dandy-Walker malformation, Cryptorchidism, Pulmonary hypoplasia, Agenesi... OMIM:229850
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Increase... ORPHA:263455
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusion, Bronchiectasis,... ORPHA:79126
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Redundant neck skin, Hepatomegaly, Spinal dysraphism, Large placent... ORPHA:96334
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Transposition of the great arteries, Small placenta, Hydranence... OMIM:256520
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Autoimmune hemolytic anemia ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Mosaic Trisomy 16
Large placenta, Maternal diabetes, Abnormal lung morphology, Abnormal heart morphology, Pulmonary... ORPHA:1708
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymph... ORPHA:829
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee... ORPHA:464329
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect, Hydrocele t... OMIM:145420
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Hypotension, Leukocytosis, Pallor, Thrombocytosis ORPHA:134
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspi... ORPHA:1120
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Normochromic anemia, Brad... ORPHA:91355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ... OMIM:619487
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Pulmonary arterial hypertension, Death in infancy, Short stature, Pulmo... OMIM:601559
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Hepatic fibrosis, Tricuspid regurgitation, Pul... OMIM:263520
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor... ORPHA:227990
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no... ORPHA:54251
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Perimembranous ventricular septal defect, Hepatomegaly, Cholelithia... ORPHA:83617
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor... ORPHA:227982
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypogonadism, Short sta... OMIM:227645
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ... OMIM:265380
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Dpagt1-Cdg
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT inter... ORPHA:86309
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Normochromic a... ORPHA:95613
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Caudal Regression Syndrome
Maternal diabetes, Hypertension, Pulmonary hypoplasia, Chiari malformation, Cryptorchidism ORPHA:3027
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hypoplastic nipples, Myelomeningocele, Spina bifida, Pulmonar... ORPHA:2437
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe... OMIM:252920
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Jeune Syndrome
Abnormality of the liver, Aplasia/Hypoplasia of the lungs, Short stature ORPHA:474
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Abnormal testis morphology, Aplasia/Hypoplasia of the lungs ORPHA:1548
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Recurrent lower respiratory tra... OMIM:226300
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Chiari type I malformation, Breast aplasia, Cryptorchidism, Sh... OMIM:617063
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Degcags Syndrome
Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Intrauterine growth retar... OMIM:619488
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia, Agenesis of corpus callosum, Atrial septal defect, Cryptorch... ORPHA:85201
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Rhizomelia, Encephalocele, Dandy-Walker malformation, Pulmonary hypoplasia, Cerebella... OMIM:616300
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleuritis, Hypertension, Pleural empyema, Hypertensive crisis, Leukocy... ORPHA:544482
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, I... OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Death in childhood, Pulmon... OMIM:619064
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rhabdoid Tumor
Irritability, Lymphadenopathy ORPHA:69077
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Purpura, Large placenta, Pancreatitis, Anemia, Pneumonia,... ORPHA:499009
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial ... OMIM:277400
Atelosteogenesis Type I
Pulmonary hypoplasia, Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct mo... ORPHA:1190
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Achondrogenesis Type 1B
Disproportionate short stature, Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical ... ORPHA:93298
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, Recurrent lower respiratory tract infections, B lymphocytopeni... OMIM:300755
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Thro... ORPHA:124
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating antibody level, Abnormal... ORPHA:85443
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Disproportionate short-limb short stature ORPHA:85166
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:293978
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Pancreatic endocrine t... ORPHA:892
Achondrogenesis
Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:932
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly OMIM:611490
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Elongated superior cerebellar peduncle, Pulmonary hypopla... OMIM:615636
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Short stature ORPHA:2145
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Mediastinal lymphade... ORPHA:2302
Fryns Syndrome
Dandy-Walker malformation, Pulmonary hypoplasia, Tetralogy of Fallot, Agenesis of corpus callosum... ORPHA:2059
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Redundant skin, Emphysema ORPHA:171719
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut... OMIM:620376
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Miscarriage, Spherocytosis, Hypochromia, Reticulocytosis, Anisocytos... ORPHA:71275
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Abnormal heart morphology, Emphysema OMIM:614100
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology OMIM:601612
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, ... OMIM:127550
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Petechiae, B lymphocytopenia, Cerebellar atrophy, Bone marrow hypocellularity, Intr... OMIM:620133
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Asplenia, Pneumonia OMIM:244400
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Small placenta, Pulmonary hypoplasia, Intrauterine growth retar... OMIM:208150
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, ... ORPHA:83469
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Abnormal natural kille... OMIM:620430
Thanatophoric Dysplasia Type 2
Encephalocele, Redundant skin, Short stature, Atrial septal defect, Aplasia/Hypoplasia of the lungs ORPHA:93274
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri... OMIM:601005
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypog... OMIM:227646
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Distal Deletion 15Q
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Short stature, Growth... ORPHA:1596
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Restrictive Dermopathy 1
Scaling skin, Stillbirth, Short umbilical cord, Adrenal hypoplasia, Hydropic placenta, Neonatal d... OMIM:275210
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Achondrogenesis Type 1A
Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93299
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Lymphopenia, Type I... ORPHA:391487
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pulmonary hypoplasia, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in childhood, Anemia, Death in infancy, Growth delay, Decreased circulating I... OMIM:612301
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... OMIM:241600
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Axial Mesodermal Dysplasia Spectrum
Abnormality of the liver, Aplasia/Hypoplasia of the lungs, Abnormality of the spleen, Short stature ORPHA:1834
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Tricuspi... ORPHA:615
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Fumarase Deficiency
Perimembranous ventricular septal defect, Intrahepatic cholestasis, Polycythemia, Agenesis of cor... OMIM:606812
Alveolar Echinococcosis
Decreased liver function, Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Incr... ORPHA:284
Aicardi-Goutieres Syndrome 7