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Gene: Vamp4 MGI:1858730

Gene Summary

Name:

vesicle-associated membrane protein 4

Synonyms:

D1Ertd147e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged thymus	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skeletal muscle morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged seminal vesicle	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lung morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged kidney	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lung	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal duodenum morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased exploration in new environment	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	7.96×10^-07
abnormal kidney morphology	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Vamp4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Vamp4 mutations

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

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

Human diseases associated with Vamp4 (0 diseases)
Human diseases predicted to be associated with Vamp4 (841 diseases)

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

The table below shows human diseases predicted to be associated to Vamp4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Dementia, Hepatomegaly, Splenomegaly	ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt...	ORPHA:60026
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoimmune hemolytic anemia, L...	ORPHA:444463
Meacham Syndrome	Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atrial septal defec...	OMIM:608978
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Ethanolaminosis	Cardiomegaly	OMIM:227150
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Trimethylaminuria	Recurrent pneumonia, Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy...	ORPHA:464329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi...	OMIM:615513
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal ce...	ORPHA:97290
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Sandhoff Disease	Progressive psychomotor deterioration, Splenomegaly, Motor deterioration, Hepatomegaly, Recurrent...	ORPHA:796
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina...	OMIM:243150
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Cogn...	ORPHA:731
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E...	OMIM:613885
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Recur...	OMIM:300853
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Pleural Mesothelioma	Abnormal pleura morphology, Pleural effusion, Lymphadenopathy, Hepatomegaly, Abnormal lung morpho...	ORPHA:50251
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Coproporphyria, Hereditary	Depression, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Confusion, I...	OMIM:121300
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, I...	ORPHA:397596
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal ce...	ORPHA:319487
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esoph...	OMIM:314390
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Cognitive impairment, Lymphadenopathy, Thrombocytopenia, Hepatomeg...	ORPHA:858
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Chronic bronchitis, Gastric varix, Cirrhosis, Panacinar emphysema, Bronchiectasis, ...	OMIM:613490
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Follicular Lymphoma	Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymp...	ORPHA:545
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Kerion Celsi	Lymphadenopathy	ORPHA:499
Niemann-Pick Disease, Type B	Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegal...	OMIM:607616
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co...	OMIM:617514
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormality of...	ORPHA:54251
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of...	ORPHA:1046
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne...	ORPHA:2470
Lymphoid Interstitial Pneumonia	Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Hepato...	ORPHA:79128
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Enlarged kidney, Nephroblastoma	OMIM:618272
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymp...	OMIM:618935
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Camp...	ORPHA:168569
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hep...	ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Increased B cell count, Increased proportion of memory T cel...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy, Recurrent upper and lower respiratory tract infections	OMIM:608106
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis,...	OMIM:607594
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis, Splenomega...	OMIM:240500
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Renal hypoplasia, Duodenal atresia, Polysp...	OMIM:617784
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Dextrocardia	Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormal lung lobatio...	ORPHA:1666
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Lymphadenopa...	OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Dysphagia, Flexion contracture	ORPHA:77260
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal...	OMIM:130650
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Azoospermia, Pleural effusion, Splenomegaly, Cardiomegaly, Hypogonadotro...	OMIM:235200
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hi...	OMIM:269920
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis	ORPHA:42642
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr...	OMIM:619608
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, C...	OMIM:252920
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Recurrent in...	OMIM:608184
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph...	OMIM:276700
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Anal canal squ...	ORPHA:424019
Alg9-Cdg	Hypoplasia of the musculature, Ventricular septal defect, Atrial septal defect, Torticollis, Hepa...	ORPHA:79328
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Nephrotic syndrome, Abnormal pulmonary interstitial morphology, Hemophagocyt...	OMIM:619644
Caspase 8 Deficiency	Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infections, Lymphadenop...	OMIM:607271
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemi...	OMIM:209950
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to gro...	OMIM:603467
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite...	OMIM:256550
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmon...	OMIM:614096
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, Renal insuffic...	OMIM:608836
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretion i...	ORPHA:505248
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Facial pals...	OMIM:612387
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Immunodeficiency 48	Pneumonia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohema...	OMIM:269840
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:270100
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lympho...	OMIM:150550
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallo...	ORPHA:2059
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Cognitive impairment, Hepatomegaly, Jaundice	ORPHA:172
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T ...	ORPHA:911
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Recurr...	OMIM:619846
Meacham Syndrome	Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, C...	ORPHA:3097
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Lymphopenia, Lymphocytic infilt...	OMIM:616100
Serkal Syndrome	Abnormal penis morphology, Sex reversal, Malrotation of small bowel, Hypoplasia of the bladder, R...	ORPHA:139466
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Lymphadenopathy, Nodular ...	ORPHA:142
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Irrita...	OMIM:257200
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Abnormal liver l...	OMIM:608022
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visce...	ORPHA:116
Babesiosis	Depression, Confusion, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recurrent...	ORPHA:108
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphad...	OMIM:614034
Fanconi Anemia, Complementation Group B	Aplastic anemia, Renal agenesis, Abnormal lung lobation, Hypogonadism, Ventricular septal defect,...	OMIM:300514
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A...	OMIM:229850
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cy...	OMIM:618188
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia...	OMIM:615122
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Lymphop...	OMIM:618986
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Pleural effusion...	OMIM:261740
Sézary Syndrome	Skeletal muscle atrophy, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly...	ORPHA:3162
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Splenomegaly, Decreased proportion ...	OMIM:613011
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal insufficie...	ORPHA:549
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lympha...	ORPHA:809
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Hepatosplenomegal...	ORPHA:158057
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, Cervical ...	OMIM:618987
Nephroblastoma	Nephroblastoma, Hematuria, Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Congenital Disorder Of Glycosylation, Type Iij	Recurrent infection of the gastrointestinal tract, Splenomegaly, Irritability, Cirrhosis, Limb hy...	OMIM:613489
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ...	ORPHA:436159
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Foll...	OMIM:603909
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Chylopericardium,...	ORPHA:2414
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Tularemia	Pneumonia, Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal adenoid morphology, Pleur...	ORPHA:3392
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Hepatomegaly, Throm...	OMIM:231000
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p...	ORPHA:26790
Roifman Syndrome	Recurrent pneumonia, Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction card...	OMIM:616651
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int...	ORPHA:210122
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Pulmonary Non-Tuberculous Mycobacterial Infection	Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis	ORPHA:411703
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atres...	ORPHA:1655
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Abnormal macrophage morp...	ORPHA:2585
Roifman Syndrome	Recurrent pneumonia, Hepatosplenomegaly, Hip contracture, Noncompaction cardiomyopathy, Hypogonad...	ORPHA:353298
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Skeletal muscle atrophy, Splenomegaly, Hepatomegaly	OMIM:616719
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, Recurrent urina...	OMIM:613179
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericarditis	ORPHA:85414
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode...	ORPHA:3405
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Hypoplas...	OMIM:617022
Hypocomplementemic Urticarial Vasculitis	Emphysema, Abnormal heart valve morphology, Ascites, Pleural effusion, Renal insufficiency, Splen...	ORPHA:36412
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Abnorma...	ORPHA:538
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th...	ORPHA:100026
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability	OMIM:612126
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal...	ORPHA:277
Rhabdoid Tumor	Renal neoplasm, Irritability, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia...	ORPHA:69077
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Inflammation of the large intestine, Ulc...	ORPHA:79259
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Proteinuria, Episodic hemolytic anemia, Membranoproliferat...	ORPHA:251004
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, He...	OMIM:619183
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Lymphatic Filariasis	Urethral obstruction, Nephrotic syndrome, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morp...	ORPHA:2035
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Skeletal muscle atrophy, Hepatosplenomegaly, Splenomegaly, Prolonged n...	OMIM:616828
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop...	ORPHA:93552
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Crohn's d...	OMIM:618394
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Harderoporphyria	Increased fecal harderoporphyrin, Increased urinary porphobilinogen, Splenomegaly, Red urine, Ret...	OMIM:618892
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitalia, Bifid tongue, ...	OMIM:613091
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased muscle mass, Decreased glomerular filtration rate, ...	OMIM:232200
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Hypertrophic cardiomyopathy, Diastasis recti, Recurrent bronchitis, Splenome...	OMIM:252500
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis	OMIM:618287
Immunodeficiency 115 With Autoinflammation	Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal lymphangiectasia, Splenomegaly, D...	OMIM:620632
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery	ORPHA:1203
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Splenomegaly, Cryptorchidi...	OMIM:618440
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent forame...	OMIM:620642
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Confusion, Decreased carnitin...	OMIM:212140
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent pneumonia, Recurrent urinary tract infections, Epididymitis, Lymph node ...	OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Pancytop...	OMIM:614700
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Part...	ORPHA:2847
Immunodeficiency 10	Recurrent pneumonia, Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:612783
Microphthalmia, Syndromic 9	Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect,...	OMIM:601186
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Dysphagi...	ORPHA:1332
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, V...	OMIM:235255
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def...	OMIM:619170
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia...	OMIM:603554
Ogden Syndrome	Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Atrial septal ...	OMIM:300855
Tafro Syndrome	Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Renal insufficiency, Leukocytosis, A...	ORPHA:457077
Sialidosis Type 2	Nephropathy, Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture	ORPHA:87876
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ...	OMIM:312870
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatom...	ORPHA:834
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly, High palate	OMIM:615637
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul...	OMIM:620367
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In...	ORPHA:160
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep...	ORPHA:3386
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Proximal tubulopathy, Villous atrophy, Renal cyst, ...	OMIM:602579
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Pyloric stenosis	ORPHA:664
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Thymus hyperplasia, Chylothorax, Congenital contracture, Type 1...	OMIM:619036
Glycogen Storage Disease Ixb	Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Irritability, Hydronephrosis, Ventricular septal defect, ...	OMIM:617798
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymp...	ORPHA:39041
Autoinflammation With Infantile Enterocolitis	Diffuse alveolar hemorrhage, Reduced natural killer cell count, Pancytopenia, Villous atrophy, Sp...	OMIM:616050
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ...	ORPHA:507
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Ambiguo...	OMIM:612651
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Common Variable Immunodeficiency	Pneumonia, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent bronchitis, Splenomegaly, ...	ORPHA:1572
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Myopathy, Jejunal atresia, ...	OMIM:243605
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Urinary retention, Recurrent respiratory infections, Abse...	ORPHA:79124
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Depression, Oral leukoplakia, Ascites, Gastrointestinal infarction...	ORPHA:342
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Immunodeficiency 31C	Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Villous atrophy, Splenomegaly, ...	OMIM:614162
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Splenomegaly, Leukocytosis, Pro...	ORPHA:829
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, Hepatomegaly, Recurrent l...	OMIM:612541
Sandhoff Disease	Skeletal muscle atrophy, Progressive psychomotor deterioration, Increased urinary N-acetylglucosa...	OMIM:268800
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Splenomegaly, Polycy...	ORPHA:2969
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Leprechaunism	Megarectum, Nephrocalcinosis, Long penis, Skeletal muscle atrophy, Clitoral hypertrophy, Overgrow...	ORPHA:508
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thrombocy...	OMIM:226990
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du...	ORPHA:1199
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Skeleta...	OMIM:615895
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal atresia, Abnormal lung lobat...	ORPHA:141127
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Respiratory tra...	ORPHA:2686
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Leukemia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst...	OMIM:257300
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas	ORPHA:1305
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestinal tract, G...	ORPHA:33276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Hydronephrosis...	OMIM:616897
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Recurrent pneumonia, Neutropenia, Abnormal T cell morphology	OMIM:613502
Mulibrey Nanism	Microglossia, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recu...	OMIM:253250
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Glycogen Storage Disease Ii	Firm muscles, Pleural effusion, Splenomegaly, Limb muscle weakness, Cardiomegaly, Hepatomegaly, U...	OMIM:232300
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, A...	ORPHA:85451
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix	ORPHA:75233
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased muscle mass, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonad...	ORPHA:465508
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Hypochromia, Poikilocytosi...	OMIM:615234
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Myopathy, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infectio...	OMIM:615873
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate	OMIM:619750
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangiectasia, Intestin...	OMIM:235510
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Villous atrophy, Decrea...	OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Decreased proportion of CD8-positive T cells, Lymph...	ORPHA:169154
Feingold Syndrome Type 1	Nephritis, Tricuspid stenosis, Renal dysplasia, Horseshoe kidney, Abnormal heart morphology, Mult...	ORPHA:391641
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Muscular dystrophy, Abnormal lung lobation, Rhabdomyosarcoma, Vagin...	ORPHA:1052
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytos...	ORPHA:98850
Congenital Rubella Syndrome	Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept...	ORPHA:290
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Secundum atrial septal defect, Polycythemia...	ORPHA:870
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,...	OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Recurrent respiratory infections, Lacticaciduria	OMIM:619063
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy	OMIM:615085
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep...	OMIM:620296
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb...	ORPHA:85212
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Anemia, Eosinophilia,...	OMIM:304790
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig...	OMIM:616028
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt...	OMIM:618042
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Congenital Contractural Arachnodactyly	Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m...	ORPHA:115
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Hypochr...	OMIM:616860
Papa Syndrome	Proteinuria, Lymphadenopathy, Myositis, Crohn's disease	ORPHA:69126
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic...	ORPHA:1333
Scrub Typhus	Myocarditis, Renal insufficiency, Splenomegaly, Lymphadenopathy	ORPHA:83317
Alg1-Cdg	Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnor...	ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Cholestasis, Ascites, Cryptorchidism, Anemia, Perimembranous ventricu...	OMIM:608104
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Q Fever	Pneumonia, Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liv...	ORPHA:781
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries, Hepatic steatosis, Glome...	ORPHA:2348
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S...	OMIM:612714
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Pulmonary edema, Cardiomegaly, Left ventricular ...	ORPHA:79330
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod...	OMIM:620233
Microform Holoprosencephaly	Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, EMG: myopathic abnormalities, Ambiguous ...	ORPHA:280200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Gastroesophageal reflux, Oligosacchariduria	ORPHA:3137
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Contractures of the large joints, Protruding tongue, Mitral valve prolapse...	ORPHA:324410
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome...	ORPHA:131
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepa...	OMIM:608013
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Myositis, Peritonitis, Abnormal myo...	ORPHA:32960
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Hepatomegaly, High palate, Hyd...	OMIM:605309
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatic amyloidosis, Cervical lymphadenopathy, Myositis, Hepatomegal...	OMIM:142680
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe...	ORPHA:101096
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, M...	OMIM:252930
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Multicystic kidney dysplasia, Hypoplastic lef...	ORPHA:2308
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl...	ORPHA:99812
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Graft Versus Host Disease	Pneumonia, Skeletal muscle atrophy, Hemophagocytosis, Hepatosplenomegaly, Dupuytren contracture, ...	ORPHA:39812
Mcleod Syndrome	Depression, Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Myopathy, Rhabd...	OMIM:300842
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st...	OMIM:607765
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Splenomegaly, Muco...	ORPHA:583
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E...	OMIM:618052
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, ...	OMIM:618278
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Submucous cleft ha...	OMIM:619227
Brucellosis	Hypersplenism, Glomerulonephritis, Hepatomegaly, Endocarditis, Epididymitis, Depression, Abnormal...	ORPHA:1304
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Camptodactyly, Recurren...	OMIM:247200
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulati...	ORPHA:97289
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Camptodactyly of finger, Horseshoe kidney,...	ORPHA:2092
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jejunal atresia, Ventricular...	OMIM:164280
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Hepatic s...	ORPHA:42
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Proteus Syndrome	Pulmonary cyst, Long penis, Bronchogenic cyst, Thymus hyperplasia, Decreased muscle mass, Abnorma...	ORPHA:744
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp...	ORPHA:1759
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr...	OMIM:300048
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ...	ORPHA:79456
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Pericardial effusion	OMIM:614702
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Ankle flexion contracture, Gastroesophageal ref...	ORPHA:464311
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries, Hepatic steatosis, Cirrh...	ORPHA:79083
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly, Recurrent lower ...	OMIM:620603
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:3384
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of...	ORPHA:991
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor...	OMIM:619824
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Depression, Ascites, Hepatosplenomegaly, Pancytopenia, Hypers...	ORPHA:77259
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Chronic Granulomatous Disease	Abnormality of neutrophils, Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly,...	ORPHA:379
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Typhoid	Hepatomegaly, Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Splenomegaly	ORPHA:99745
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Immunodeficiency 36 With Lymphoproliferation	Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem...	OMIM:616005
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Splenomegaly, Irritability	OMIM:228000
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadeno...	ORPHA:139402
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Leukocytosis, ...	OMIM:249100
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge...	OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233710
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Spontaneous pneumothorax, Hydrocele testis	OMIM:618154
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Ventricula...	OMIM:615630
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Reduced natural killer cell count, Anoperineal fistula, Bronchitis, Hepatitis, Villous...	OMIM:619381
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Dominant Beta-Thalassemia	Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Ex...	ORPHA:231226
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Thyroid Lymphoma	Dysphagia, Lymphadenopathy, Goiter	ORPHA:97285
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Bronchitis, Abnormal renal morphology, Pulmonary fibrosis...	ORPHA:449280
Congenital Disorder Of Glycosylation, Type Il	Ascites, Pericardial effusion, Villous atrophy, Splenomegaly, Atrial septal defect, Hepatomegaly,...	OMIM:608776
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ...	OMIM:619350
Sialuria	Splenomegaly, Attention deficit hyperactivity disorder, Hypoplastic nipples, Increased level of N...	OMIM:269921
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Aut...	ORPHA:37042
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Hardikar Syndrome	Portal inflammation, Cholestasis, Hypersplenism, Cleft soft palate, Hepatosplenomegaly, Bilateral...	OMIM:301068
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233690
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Depression, Viral hepatitis, As...	ORPHA:2137
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Lymphadenitis, Atelectasis, Ascites, Impaired oxidative burst, Pleural effus...	OMIM:306400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Mental deterioration, Hypertrophic cardiomyopathy, Ventricular hypertrophy	OMIM:619051
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Anemia, Jaundice, Lymphadenopathy, Neu...	ORPHA:540
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph nodes in presence o...	ORPHA:98813
Fucosidosis	Mental deterioration, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated ly...	OMIM:230000
Timothy Syndrome	Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card...	OMIM:601005
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Distal Deletion 12Q	High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Annular pancreas, Pi...	ORPHA:96149
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Furrowed tongue, Lymphadenopathy, Macroglossia, Facial palsy	ORPHA:2483
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Lymphopenia...	OMIM:600802
Meige Disease	Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center	ORPHA:90186
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Memory impairment, Leukemia, Pleural effusion, Re...	ORPHA:33226
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, H...	OMIM:252900
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Cardiomyopathy, Cholestasis, Renal tu...	ORPHA:264580
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly	OMIM:205400
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy	OMIM:611490
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Breast hy...	ORPHA:464306
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Fa...	OMIM:618798
Behçet Disease	Gastrointestinal hemorrhage, Memory impairment, Confusion, Pleural effusion, Renal insufficiency,...	ORPHA:117
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy	OMIM:600649
Wilson Disease	Proximal muscle weakness in lower limbs, Depression, Hepatitis, Acute hepatitis, Splenomegaly, He...	ORPHA:905
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn...	ORPHA:398063
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Whipple Disease	Gastrointestinal hemorrhage, Depression, Mediastinal lymphadenopathy, Splenomegaly, Myositis, Ane...	ORPHA:3452
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Splenomegaly, Emotional lability, Irritability, Hepatome...	OMIM:201100
Charge Syndrome	Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:214800
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Lymphadenopathy, Hepatomegaly	ORPHA:343
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Heparan sulf...	OMIM:309900
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnor...	OMIM:181000
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Eleva...	ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ...	OMIM:611881
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Irritability, Anemia, Lymphadenopathy, Thrombocytopen...	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Irritability, Anemi...	OMIM:603553
Multiple Myeloma	Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Pleural e...	ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Myositis, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Fle...	OMIM:617591
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Prolidase Deficiency	Recurrent pneumonia, Splenomegaly, Prolonged neonatal jaundice, Anemia, Thrombocytopenia, Hyperim...	OMIM:170100
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Anal canal ade...	ORPHA:424016
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Congenital Bile Acid Synthesis Defect Type 3	Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation	ORPHA:79302
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Decreased response to growth hormone stimulation test, Ventricular septal...	OMIM:614114
Kagami-Ogata Syndrome	Diastasis recti, Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Fle...	OMIM:608149
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr...	ORPHA:98849
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Functional abnormality of the bladder, Decreased muscle mass, Horsesh...	ORPHA:2953
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Skeletal muscle atrophy, Renal tubular acidosis, Splenomegaly, Polycystic ovari...	ORPHA:79240
Refsum Disease, Classic	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Abn...	ORPHA:565612
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ...	OMIM:611376
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine, Contracture o...	OMIM:607015
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo...	ORPHA:797
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Lymphopenia, Leukopenia, Follicular hyperplasia, Myositis, Thrombocytosi...	OMIM:615934
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, ...	ORPHA:520
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Vesicourete...	OMIM:616368
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Dementia, Heparan sulfate excretion in urine, Urinar...	ORPHA:581
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia	OMIM:620306
Middle Ear Neuroendocrine Tumor	Facial palsy, Chronic noninfectious lymphadenopathy	ORPHA:100084
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi...	OMIM:147060
Malakoplakia	Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Prostate neoplasm, Follic...	ORPHA:556
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Diets-Jongmans Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Attention deficit hyp...	OMIM:618846
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Recur...	OMIM:613327
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop...	ORPHA:3260
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Hennekam Syndrome	Chylothorax, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymph...	ORPHA:2136
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism...	OMIM:616975
Secondary Short Bowel Syndrome	Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo...	ORPHA:95427
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal j...	OMIM:607625
Primary Sjögren Syndrome	Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocytic interst...	ORPHA:289390
Cirrhotic Cardiomyopathy	Ascites, Pulmonary edema, Cardiomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ci...	ORPHA:57777
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syn...	OMIM:617713
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Cardiomegaly, Gastrointestin...	ORPHA:391428
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,...	ORPHA:228308
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Ascites, ...	OMIM:618183
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Depression, Cardiomyopathy, Limb muscle weakness, 3-Methylglutaconic aciduria, Increased hepatic ...	OMIM:619259
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Atelecta...	ORPHA:333
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Foot dorsiflexor weakness,...	OMIM:214500
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ...	ORPHA:913
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Rhab...	OMIM:614921
Zygomycosis	Ileitis, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrhage, Rena...	ORPHA:73263
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Coccidioidomycosis	Pneumonia, Abnormality of the male genitalia, Exudative pleural effusion, Abnormality of the sple...	ORPHA:228123
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Periportal fibrosis, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intest...	OMIM:269860
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Respiratory tract infection, C...	ORPHA:308552
Hurler Syndrome	Cardiomyopathy, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan...	OMIM:607014
Penile Agenesis	Cryptorchidism, Ventricular septal defect, Urethral atresia, male, Urethral fistula, Atrial septa...	ORPHA:49
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun...	ORPHA:171
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ...	OMIM:610377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly, Pancytopeni...	OMIM:615688
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Nephrotic syndrome, Hematochezia, Hepatitis, Hypertrophic cardiomy...	OMIM:615846
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Intestinal fistula, Zollinger-Ellison syndrome, Hydronephrosis, Small intesti...	ORPHA:100078
Gaucher Disease, Type Ii	Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Pro...	OMIM:230900
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm...	ORPHA:3427
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomyopathy, Confusion, Pulmonary edema, Cardiomegaly, Dementia	OMIM:105210
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Congenital hypoplastic anemia, Hypochrom...	ORPHA:77297
Multiple Endocrine Neoplasia Type 1	Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma...	ORPHA:652
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiom...	OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, D...	OMIM:257220
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Biventricular hypertrophy, Hepatic steatosis, ...	OMIM:619573
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Anemia, Abnormality of the gastr...	ORPHA:2070
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Calcinosis, Hep...	OMIM:239200
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Myopathy, Intestinal carcinoid, Small in...	ORPHA:100093
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100080
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Abnormal tongue morphology, Ce...	ORPHA:653
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Lymphatic Malformation 6	Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural effusion, Spl...	OMIM:616843
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Alg6-Cdg	Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice	ORPHA:79320
Congenital Syphilis	Pneumonia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancrea...	ORPHA:499009
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Portal hypertension, H...	ORPHA:79319
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Selective Igm Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Decreased propo...	ORPHA:331235
Fucosidosis	Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hepat...	ORPHA:349
Hurler Syndrome	Depression, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial...	ORPHA:93473
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, High palate, Abnormal thy...	ORPHA:2463
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Mechanical ileus, Hepatomegaly, Adreno...	ORPHA:100079
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Recurrent pneumonia, Inflammation of the large inte...	OMIM:617718
Trichohepatoenteric Syndrome 1	Galactosuria, Bifid uvula, Hepatic fibrosis, Tetralogy of Fallot, Cholestasis, Villous atrophy, S...	OMIM:222470
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re...	ORPHA:584
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Abnormal renal collecting syst...	ORPHA:468631
Igg4-Related Ophthalmic Disease	Retroperitoneal fibrosis, Sialadenitis, Orchitis, Abnormality of the extraocular muscles, Eosinop...	ORPHA:449563
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:294
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune h...	OMIM:102700
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cryptorchidism, Hydronephros...	ORPHA:2886
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Gastroesophageal reflux, An...	OMIM:107480
Trigonocephaly 1	High, narrow palate, Long penis, Meckel diverticulum	OMIM:190440
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly, Calcification of muscles	ORPHA:53715
Fraser Syndrome 1	Renal hypoplasia, Clitoral hypertrophy, Abnormal heart morphology, Abnormal small intestine morph...	OMIM:219000
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Neuroendocrine Tumor Of The Rectum	Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100082
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Hepato...	OMIM:255120
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal...	ORPHA:92050
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste...	ORPHA:567983
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos...	OMIM:617100
Trisomy 8P	Bifid uvula, Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, ...	ORPHA:264450
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Splenic cyst, Patent foramen ovale, C...	OMIM:620371
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Carney Triad	Gastrointestinal hemorrhage, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosar...	ORPHA:139411
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F...	ORPHA:980
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ...	OMIM:615237
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Jaundice, Epididymitis, ...	ORPHA:99827
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryp...	OMIM:618143
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Duodenal ulcer, Nephrolithiasis	OMIM:217090
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormal heart morphology, Ventric...	ORPHA:1708
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Splenomegaly, Macrocytic anemia, Myop...	OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Atelectasis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial ...	ORPHA:365
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Dyskeratosis Congenita	Bone marrow hypocellularity, Abnormality of neutrophils, Oral leukoplakia, Abnormal morphology of...	ORPHA:1775
Meckel Syndrome, Type 1	Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia, Bile duct p...	OMIM:249000
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Parotitis, Microcytic anem...	OMIM:256040
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, Renal dysplasia, High, n...	OMIM:188400
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Facial diple...	ORPHA:31150
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Kawasaki Disease	Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular se...	ORPHA:2331
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Gastroesophageal reflux, Reduced natural killer cell count, Enlarged platele...	OMIM:608233
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Anal atresia...	ORPHA:567
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se...	OMIM:270400
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Fanconi Anemia	Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, Atrial septal defect, ...	ORPHA:84
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Skeleta...	OMIM:222700
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee...	ORPHA:699
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Lymphopenia, Recurrent sinusitis, T lymphocytopenia, Tubulointerstitial fibrosis, Lymp...	OMIM:607944
Riddle Syndrome	Pneumonia, Enuresis nocturna, Recurrent pneumonia, Bronchitis, Emotional lability, Recurrent sinu...	ORPHA:420741
Gaucher Disease	Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Dysphagia, Cholelit...	ORPHA:355
Visceral Myopathy 1	Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure...	OMIM:155310
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Increased muscle lipid content, Myopathy, Splenomegaly, Hep...	OMIM:610717
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Congenital contracture, Nephroblastoma, Card...	ORPHA:97297
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Pulmonary fibrosis, Splenomegaly, Neutrophilia	OMIM:612852
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Pyl...	OMIM:616395
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hern...	ORPHA:373
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal...	ORPHA:1329
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Renal insufficiency, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Depression, Abnormal heart valve morphology, Hypersplenism, Interstitial pneumoni...	ORPHA:77293
Duodenal Atresia	Duodenal atresia	OMIM:223400
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Generalized muscular appearance from birth, Hypertrophic cardiomyopathy, La...	OMIM:269700
Coffin-Siris Syndrome 1	Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Intestinal malrotation, Tetralogy of Fallot,...	OMIM:135900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Wilson Disease	Limb muscle weakness, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypoparathyroidism, Jaundice, D...	OMIM:277900
Malt Lymphoma	Anemia, Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronod...	OMIM:251880
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Generalized muscular appearance from birth, Labial hypertro...	OMIM:608594
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Zollinger-Elliso...	ORPHA:100075
Mucolipidosis Type Ii	Cardiomyopathy, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Abnormal mitral valve morpholo...	ORPHA:576
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly, Recurrent respirat...	OMIM:612132
Mucopolysaccharidosis Type 2	Mental deterioration, Recurrent upper respiratory tract infections, Contractures of the large joi...	ORPHA:580
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Generalized lymphadenopathy, Knee flexion contracture, Hip contracture	OMIM:620232
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Arthrogryposi...	ORPHA:163746
Mucopolysaccharidosis Type 2, Attenuated Form	Mental deterioration, Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly...	ORPHA:217093
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Emotional lability, Abnormal duodenum morpholo...	ORPHA:512
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Chylothorax, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Short a...	OMIM:613563
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Port...	ORPHA:309854
Histiocytoid Cardiomyopathy	Polycystic ovaries, Pulmonary edema, Renal cyst, Cardiomegaly, Ventricular septal defect, Hepatom...	ORPHA:137675
Abetalipoproteinemia	Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Myopathy, Hepatic steatosis, Cardiomegaly, Hep...	ORPHA:14
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Diastasis recti, Cryptorchidism, Mitral valve prolapse, Hydronephrosis, H...	OMIM:601776
Williams Syndrome	Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao...	ORPHA:904
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce...	ORPHA:722
Mucopolysaccharidosis Type 2, Severe Form	Mental deterioration, Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly...	ORPHA:217085
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Spondyloocular Syndrome	Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Unilateral cryptorchidism, ...	OMIM:605822
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j...	ORPHA:51
Cystinosis, Nephropathic	Myopathy, Hematuria, Hepatomegaly, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Male hypo...	OMIM:219800
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Hepat...	ORPHA:186
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit...	OMIM:175500
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepat...	OMIM:274000
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Memory impairment, Depression...	ORPHA:99889
Blau Syndrome	Nephropathy, Xerostomia, Camptodactyly of finger, Abnormality of the liver, Stage 5 chronic kidne...	ORPHA:90340
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Mental deterioration, Fetal ascites, Depression, Aspiration...	ORPHA:646
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no...	OMIM:300967
Plague	Inflammation of the large intestine, Depression, Lymphadenitis, Splenomegaly, Ileitis, Hepatomega...	ORPHA:707
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Reduced erythrocyte uroporphyrinogen III cosynthas...	OMIM:263700
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Leptospirosis	Acute kidney injury, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Cellular ...	ORPHA:509
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Anemia, Lymphadenop...	ORPHA:667
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomeg...	OMIM:613471
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Renal cyst, Dysphagia, Pulmonary hypoplasia	OMIM:615636
Juvenile Polyposis Syndrome	Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic...	ORPHA:2929
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Camptodactyly of toe, Cleft palate	ORPHA:158687
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Clitoral ...	OMIM:606170
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate...	OMIM:301043
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Flexion contracture, Lymphadenopathy	ORPHA:85408
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atria...	ORPHA:1677
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration	OMIM:618372
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Confusion, Lymphopenia, Abnormal lymphocyte morphology, Re...	ORPHA:99826
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Microvillus Inclusion Disease	Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph...	ORPHA:2290
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine...	OMIM:619534
Cog8-Cdg	Protein-losing enteropathy, Skeletal muscle atrophy	ORPHA:95428
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of the e...	OMIM:617088
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia	OMIM:277175
Systemic Lupus Erythematosus	Depression, Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopeni...	ORPHA:536
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Gardner Syndrome	Gastrointestinal carcinoma, Adenomatous colonic polyposis, Prostate cancer, Ampulla of Vater carc...	ORPHA:79665
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc...	ORPHA:733
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery sten...	ORPHA:3472
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Iniencephaly	Renal agenesis, Congenital diaphragmatic hernia, Anal atresia, Arthrogryposis multiplex congenita...	ORPHA:63259
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Pneumothorax, Cardiomegaly	ORPHA:91387
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia	ORPHA:103910
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Duodenal ulcer	ORPHA:3217
Menke-Hennekam Syndrome 2	Recurrent upper respiratory tract infections, Duodenal ulcer	OMIM:618333
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
African Trypanosomiasis	Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Irritability, Hepato...	ORPHA:3385
Apc-Related Attenuated Familial Adenomatous Polyposis	Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps,...	ORPHA:247806
Aspartylglucosaminuria	Aspartylglucosaminuria, Splenomegaly, Macroorchidism, Hepatomegaly, Macroglossia, Recurrent respi...	ORPHA:93
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Wolf-Hirschhorn Syndrome	Accessory spleen, Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Decrea...	OMIM:194190
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Abnormality of t...	ORPHA:261584
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Contracture of the proximal ...	OMIM:619472
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov...	ORPHA:64
Chikungunya	Cervical lymphadenopathy, Depression, Lymphadenopathy	ORPHA:324625
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver...	ORPHA:90348
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Muscle fiber atrophy, Pleural effusion, Cardio...	OMIM:182250
Familial Adenomatous Polyposis 1	Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Adenomatous...	OMIM:175100

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 Vamp4

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 Vamp4.

No publications found that use IMPC mice or data for Vamp4.

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MGI Allele	Allele Type	Produced
Vamp4^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vamp4 MGI:1858730

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Vamp4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data