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Gene: Bin3 MGI:1929883

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
bridging integrator 3
Synonyms:
1700015F07Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Bin3 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 Bin3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenom... OMIM:619126
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia, Myelodysplasia OMIM:162830
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... ORPHA:905
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... OMIM:614470
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Hepatitis,... ORPHA:1163
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemogl... ORPHA:231401
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Respiratory insufficiency, ... OMIM:617021
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... ORPHA:75564
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... OMIM:620282
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Melioidosis
Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, Abnormal... ORPHA:31202
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Us... OMIM:614742
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... ORPHA:139507
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia OMIM:153550
Peroxisome Biogenesis Disorder 11B
Respiratory tract infection, Cataract, Hepatosplenomegaly OMIM:614885
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Ch... OMIM:615207
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Absence of lymph node germinal center... OMIM:608184
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... ORPHA:139402
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Asthma, Lymphoma, Leukopenia, ... OMIM:616871
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid mor... ORPHA:3392
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Myelodysplasia, Anemia of in... ORPHA:98826
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... OMIM:308240
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti... OMIM:304790
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell co... ORPHA:3261
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... ORPHA:549
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... ORPHA:781
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis, Myelodysplasia ORPHA:721
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,... ORPHA:169090
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Dec... OMIM:607271
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia,... ORPHA:292
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E... ORPHA:911
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... OMIM:614878
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Cholestasis, Decre... ORPHA:570422
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... OMIM:618495
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... ORPHA:318
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden... ORPHA:98848
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Splenomegaly, Jaundice, Anemia, Aplasia/Hypop... ORPHA:290
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... ORPHA:37042
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphad... ORPHA:39041
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Lichen Planopilaris
Pterygium, Hepatitis, Neoplasm of the oral cavity ORPHA:525
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... ORPHA:227990
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiecta... OMIM:300755
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Legius Syndrome
Cataract, Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, ... ORPHA:137605
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Sandhoff Disease
Splenomegaly, Hepatomegaly, Recurrent respiratory infections ORPHA:796
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm... ORPHA:77260
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Bare Lymphocyte Syndrome, Type I
Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media... OMIM:604571
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma... ORPHA:1332
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Splenomegaly, Hepa... ORPHA:584
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... ORPHA:227982
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash... ORPHA:572
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat... ORPHA:2584
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ... ORPHA:221
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Cataract, Esophageal neoplasm... ORPHA:523
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... ORPHA:91138
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Chronic p... OMIM:618986
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... ORPHA:662
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Autoimmune hemolytic anemia, Inflammatory abnormality of t... ORPHA:391487
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... OMIM:209920
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Abnormal cornea morphology, Chr... OMIM:244400
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... OMIM:619523
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Conj... OMIM:616740
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Lymphoproliferativ... ORPHA:276
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... ORPHA:440713
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... OMIM:614172
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Infectiou... ORPHA:2552
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... ORPHA:108
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Neoplasm of the cen... ORPHA:69077
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... OMIM:202700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Splenomegaly, Respi... OMIM:609981
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced... OMIM:613385
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent skin infections, Recurrent u... OMIM:614868
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Br... OMIM:616005
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Respiratory insufficiency, Lymphadenopathy, Neop... ORPHA:391
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, Atopic derma... OMIM:603165
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Rhinitis ORPHA:93476
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Fusariosis
Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Hematological neoplasm, Kerat... ORPHA:228119
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Decreased beta-galactosidase activity OMIM:230350
3-Methylglutaconic Aciduria Type 4
Cataract, Decreased liver function, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... ORPHA:289390
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology... ORPHA:589
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... ORPHA:228426
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Verrucae, Neutropenia OMIM:193670
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Myelodysplasia, Thrombocytopenia, Squamous cell carcinoma of the skin, Pulmo... OMIM:620365
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematological neoplasm, Hypersplenism... ORPHA:98850
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, B-c... OMIM:619381
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta... ORPHA:232
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu... OMIM:618935
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly ORPHA:309288
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... OMIM:610199
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... OMIM:617388
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Cataract, Abnormal pleura morphology ORPHA:2571
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... OMIM:610333
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cel... OMIM:102700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Galactosemia I
Hemolytic anemia, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concent... OMIM:230400
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Thrombocytopenia, Ascites, Anemia ORPHA:2123
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Ab... OMIM:230800
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Atelis Syndrome 1
Cataract, Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Chemosis, Infectio... ORPHA:73263
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Cataract, Restrictive ventilatory defect, Pulmonary fibrosis, Erysipelas OMIM:615704
Fgfr2-Related Bent Bone Dysplasia
Megalocornea, Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79405
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Elev... OMIM:613489
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc... ORPHA:1855
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... OMIM:615846
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Leukopenia, Chronic otit... ORPHA:33355
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Splenomegaly, Lymphoma, Lymp... ORPHA:3162
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myoca... ORPHA:728
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Cough, Lymphopenia, ... ORPHA:319218
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf... OMIM:277900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Mevalonic Aciduria
Splenomegaly, Cataract ORPHA:29
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Cronkhite-Canada Syndrome
Hepatomegaly, Cataract, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... OMIM:618523
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Asthma, Recurrent pneumoni... OMIM:203800
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... OMIM:257200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Cataract, Asplenia, Iridocyclitis, Chronic mucocuta... OMIM:240300
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... ORPHA:93921
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia ORPHA:101028
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... ORPHA:54251
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Cataract, Corneal opacity, Splenomegaly, Arthriti... ORPHA:61
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Gastrointestinal in... ORPHA:186
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha... OMIM:617591
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Respiratory insufficiency, Anemia ORPHA:28
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interst... OMIM:127550
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Dyspnea, Ascites ORPHA:87876
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Corneal arcus, Stoma... OMIM:210250
Hemochromatosis, Type 3
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Pellagra-Like Syndrome
Cataract, Skin rash OMIM:260650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopen... OMIM:620210
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thromb... OMIM:618116
Joubert Syndrome 9
Cataract, Apnea, Episodic tachypnea, Astigmatism, Hepatic fibrosis OMIM:612285
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop... ORPHA:79312
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... ORPHA:85414
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Lymphoma, Uveitis, Lymphadenopathy,... ORPHA:36412
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... OMIM:607115
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ascites, Iris hypopigmentation ORPHA:834
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Restrictive ventilatory defect, Art... ORPHA:575
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... OMIM:616050
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Cervical lymphadenopathy, Leukocytosis, Jaundice,... ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... OMIM:601847
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Neonatal asphyxia,... ORPHA:79237
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... ORPHA:811
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hemochromatosis, Type 2A
Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Skin rash, Fluctuating he... OMIM:610377
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Recessive Dystrophic Epidermolysis Bullosa Inversa
Corneal erosion, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cu... ORPHA:79409
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Abnorma... ORPHA:91139
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... ORPHA:97287
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Asthma, Hepat... OMIM:606003
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosi... OMIM:608885
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, Enl... ORPHA:2869
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough ORPHA:1334
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Hepatitis, Hashimoto thyro... ORPHA:199299
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Mediastinal lymphad... ORPHA:809
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Splenomegaly, Osteoarthritis, Hepatit... ORPHA:355
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia OMIM:231000
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ... ORPHA:1304
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... OMIM:256550
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach... ORPHA:71275
Shigellosis
Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Uveitis, Ulcerativ... ORPHA:810
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:611881
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Cataract, Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocut... OMIM:158310
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Th... OMIM:246400
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Bronchogen... ORPHA:2969
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph... ORPHA:319251
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... ORPHA:797
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... ORPHA:540
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... ORPHA:509
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia ORPHA:1867
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Mccune-Albright Syndrome
Pancytopenia, Cutaneous myxoma, Hepatocellular adenoma, Cholestasis, Hepatitis, Breast carcinoma,... ORPHA:562
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... OMIM:214500
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... OMIM:620233
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen... ORPHA:436252
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Decreased a... OMIM:228000
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Bloom Syndrome
Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased proportion of CD4-... ORPHA:125
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Eczema, Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections,... ORPHA:508542
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Abnorm... ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system,... ORPHA:464329
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl... ORPHA:370348
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... OMIM:251290
Werner Syndrome
Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c,... OMIM:277700
Premature Aging Syndrome, Okamoto Type
Cataract, Neoplasm, Osteosarcoma OMIM:601811
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... OMIM:242860
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Corneal scarring, Squamous cell carcinoma, Conjunctivitis, Anemia OMIM:226600
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis,... ORPHA:67
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... OMIM:235200
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Scheie Syndrome
Splenomegaly, Hepatomegaly, Rhinitis, Corneal opacity ORPHA:93474
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Asthma, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Neutropenia, Abnormal lymphatic vessel m... ORPHA:2330
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... OMIM:260400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ... ORPHA:247691
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Posterior subcapsular cataract, Bronchiectasis, Productive cough OMIM:615434
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom... OMIM:615688
Polycythemia Vera
Hepatomegaly, Epistaxis, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegal... ORPHA:729
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Cataract, Interstitial pneumonitis, Granulocytopenia, Lymph... ORPHA:454831
Cataract 47
Microcornea, Cataract OMIM:612018
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca ORPHA:43393
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Ocular albinism, Abnormal pu... OMIM:617050
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Pulmonary ar... OMIM:215600
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Gastrointestinal Stromal Tumor
Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, ... ORPHA:44890
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Low cholester... OMIM:607625
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Pulmonary hypoplasia ORPHA:2886
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Splenomeg... OMIM:603553
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis ORPHA:369942
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Genetic Hyperferritinemia Without Iron Overload
Cataract, Elevated hepatic iron concentration ORPHA:254704
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary art... ORPHA:71493
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, ... OMIM:612541
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Uve... ORPHA:3452
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90037
Hurler-Scheie Syndrome
Hepatomegaly, Recurrent respiratory infections, Corneal opacity, Splenomegaly, Pulmonary arterial... OMIM:607015
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... ORPHA:415
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cough, Infectious e... ORPHA:3386
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis... ORPHA:533
Poikiloderma With Neutropenia
Skin rash, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, ... OMIM:604173
Cowden Syndrome 1
Cataract, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomatous pol... OMIM:158350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C... OMIM:615895
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ven... ORPHA:83317
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... OMIM:259700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Pustule, Splenomegaly... OMIM:612852
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Splenomegaly, Lymphoma, R... ORPHA:33226
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan... ORPHA:284
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxi... ORPHA:420741
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphaden... OMIM:260920
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Opacification of the corne... ORPHA:583
Mirage Syndrome
Myelodysplasia, Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopen... OMIM:617053
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Herpes simplex encephalitis,... ORPHA:83597
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Neoplasm of the lung, Art... ORPHA:2796
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Iris... ORPHA:167
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplas... ORPHA:99889
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Cataract, Abnormality o... ORPHA:1775
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Diaphanospondylodysostosis
Respiratory distress, Nephroblastomatosis, Respiratory insufficiency, Abnormal liver lobulation, ... OMIM:608022
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, B lymphocy... OMIM:601495
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Pulmonary arterial hyp... OMIM:616028
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Abnormal pattern of resp... ORPHA:1454
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly OMIM:601005
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Jaundice, Hepatosplenomegaly, Stomatocytosis, Zonular cat... ORPHA:168577
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Cataract, Myelodyspl... OMIM:305000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy OMIM:253700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Keratitis, Splenomegaly, Retr... ORPHA:90340
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Anemia ORPHA:30
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent skin infections, Corneal erosion, Tubulointerstitial nephritis, Conjunctiviti... ORPHA:33001
Biotinidase Deficiency
Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, T... OMIM:253260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Chronic lung disease, Severe B lymphocytopenia, ... OMIM:620005
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Microvesicular hepatic steatosis, Splen... OMIM:619418
Stevens-Johnson Syndrome
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Abnormali... ORPHA:36426
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu... ORPHA:79264
Lujo Hemorrhagic Fever
Respiratory distress, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Crackles... ORPHA:319213
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... OMIM:153670
Malt Lymphoma
Recurrent respiratory infections, B-cell lymphoma, Mediastinal lymphadenopathy, Lymphadenopathy, ... ORPHA:52417
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Jaundice, Dyspnea, Ente... ORPHA:90051
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hypoxemia... ORPHA:456312
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... ORPHA:139411
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Pneumonia, Cough, Abn... ORPHA:228123
Chops Syndrome
Cataract, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, ... OMIM:616368
Gm1 Gangliosidosis
Recurrent respiratory infections, Corneal opacity, Splenomegaly, Hepatosplenomegaly, Decreased be... ORPHA:354
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... OMIM:257220
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Glioma, Recurrent bronchitis... OMIM:251260
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic... OMIM:619991
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... ORPHA:31205
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca OMIM:619016
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin ORPHA:53715
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Nephronophthisis 11
Anisocoria, Hepatic fibrosis, Anemia OMIM:613550
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... ORPHA:88
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Thr... ORPHA:50918
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Cataract, Small cell lung carcinoma, Acute lymphoblastic le... ORPHA:821
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Leiomyomatosis, Diffuse, With Alport Syndrome
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Cataract, Dyspnea, Anterior lenticonus, ... OMIM:308940
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy... ORPHA:77293
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... OMIM:249100
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Lymphoma, Bi... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... OMIM:105600
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... ORPHA:31150
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Corneal opacity, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegal... OMIM:253200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Jaundice, Pneumonia, Breast carcinoma ORPHA:90790
Mosaic Trisomy 9
Asplenia, Abnormal lung lobation, Abnormal liver lobulation, Corneal opacity ORPHA:99776
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia ORPHA:431361
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules OMIM:139090
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Melanoma, Conjunctivitis, Corneal neovasculariza... OMIM:278730
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Choleli... OMIM:263700
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Pancytopenia, Cataract, Corneal opacity, P... ORPHA:309282
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Corneal perforation, Conjunctival hyp... ORPHA:68
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Dyspnea, Tachypnea, Anemia OMIM:239200
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Syndromic Diarrhea
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, ... ORPHA:84064
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cataract, Corneal opacity, Cardiomegaly, Adenoi... ORPHA:581
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cataract, Jaundice, Cholestasis, Hepatosplenomegaly,... ORPHA:247598
Occipital Horn Syndrome
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses ORPHA:198
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Epistaxis, Glomerulonephritis, Dy... ORPHA:340
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia OMIM:619167
Behçet Disease
Increased inflammatory response, Myositis, Cataract, Acne, Pericarditis, Pulmonary embolism, Orch... ORPHA:117
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... ORPHA:699
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hepatomegaly, Recurrent pneumonia, Anemia OMIM:612301
Plague
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... ORPHA:707
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... ORPHA:77261
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Pneumonia, Respiratory tract infection, Thrombocytopenia, Leukocytosis, Dyspnea... ORPHA:544482
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Recurrent aspiration pneumonia ORPHA:73230
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... OMIM:276700
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholec... ORPHA:449395
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... OMIM:232220
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Alagille Syndrome 1
Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Hepatocellular carcinoma, Band ke... OMIM:118450
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Respiratory insufficiency, A... OMIM:222700
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Abnormality of the spleen, Throm... ORPHA:2072
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H... ORPHA:64
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... ORPHA:342
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci... OMIM:613471
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... ORPHA:95159
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... ORPHA:667
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... ORPHA:646
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia, Iris coloboma OMIM:300472
Gaisböck Syndrome
Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Increased hemat... ORPHA:90041
Gm1 Gangliosidosis Type 1
Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira... ORPHA:586
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Crimean-Congo Hemorrhagic Fever
Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocy... ORPHA:99827
Cornelia De Lange Syndrome 1
Pneumonia, Microcornea, Astigmatism, Otitis media, Duplication of internal organs, Thrombocytopenia OMIM:122470
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Degcags Syndrome
Hepatomegaly, Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Asthm... OMIM:619488
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Pulmona... ORPHA:94093
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... ORPHA:221139
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Astigmatism, Aspiration pneumonia OMIM:619482
Digeorge Syndrome
Acne, Sclerocornea, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Chronic pulmonary obst... OMIM:188400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Hamartomato... OMIM:175050
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Cataract, Pneumonia, Pilomatrixoma, Asthma, Spinal cord tumor, ... ORPHA:353281
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Miller-Dieker Lissencephaly Syndrome
Cataract, Recurrent aspiration pneumonia OMIM:247200
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... ORPHA:1465
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Cataract, Pneumonia, Pilomatrixoma, Asthma, Corneal scarring, O... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Cataract, Pneumonia, Pilomatrixoma, Asthma, Corneal scarring, O... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic ... ORPHA:444077
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Corneal scarring, Septic arthritis, Corneal ulceration, Recurrent aspir... ORPHA:642
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Cataract, Hypoplasia of the thymus, Pneumonia OMIM:264090
Doors Syndrome
Respiratory distress, Cataract, Capillary hemangioma, Aspiration pneumonia, Thrombocytosis ORPHA:79500
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Cataract, Abnormal liver paren... ORPHA:79318
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia ORPHA:438213
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Cataract, Sclerocornea, Aspiration pneumonia OMIM:216340

Histopathology

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

There is no histopathology data for Bin3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bin3.

No publications found that use IMPC mice or data for Bin3.

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