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Gene: Pdlim7 MGI:1914649

Gene Summary

Name:

PDZ and LIM domain 7

Synonyms:

1110003B01Rik, Enigma, 2410002J21Rik

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
abnormal liver morphology	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal vitreous body morphology	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
enlarged spleen	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean platelet volume	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	5.07×10^-06
abnormal spleen morphology	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Pdlim7^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Pdlim7 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 Pdlim7 (0 diseases)
Human diseases predicted to be associated with Pdlim7 (976 diseases)

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

The table below shows human diseases predicted to be associated to Pdlim7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy, Dilated, 2E	Death in childhood, Ebstein anomaly of the tricuspid valve, Reduced systolic function, Death in i...	OMIM:619492
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra...	ORPHA:182050
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Abnormal...	ORPHA:1354
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric...	ORPHA:555874
Galactose Epimerase Deficiency	Cataract, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology	ORPHA:1208
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Immunodeficiency 15B	Failure to thrive, Monocytosis, Reduced natural killer cell count, Death in infancy	OMIM:615592
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Au...	OMIM:614470
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Sitosterolemia 1	Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, ...	OMIM:210250
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Death in childhood, Hemophagocytosis, Recurrent lower...	OMIM:619644
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Ethanolaminosis	Cardiomegaly	OMIM:227150
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu...	OMIM:614980
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent pneumonia, Recurrent sinusi...	OMIM:619281
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Dysplastic pulmonary valve, Right ventricular dilatation, Tricuspid...	OMIM:612863
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Kerion Celsi	Lymphadenopathy	ORPHA:499
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of thrombocytes	ORPHA:172
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc...	OMIM:612422
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, ...	OMIM:614876
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Inter...	ORPHA:90308
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr...	OMIM:614096
Cardiac-Urogenital Syndrome	Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Accessory spleen, Scimitar a...	OMIM:618280
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Partial Atrioventricular Septal Defect	Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bacterial endocarditis, Syn...	ORPHA:1330
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular s...	OMIM:115197
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonar...	OMIM:612541
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Cardi...	ORPHA:93476
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ...	OMIM:265380
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Ventricular septal defect, Pulmonic stenosis, Inc...	OMIM:222470
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Faciocardiorenal Syndrome	Failure to thrive, Tricuspid valve prolapse, Endocardial fibroelastosis	ORPHA:1973
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Pulmonary edema, Recurrent respiratory infections, Atrial fibrillation, ...	ORPHA:75249
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia	OMIM:616871
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopulmonary in...	ORPHA:486
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pig...	ORPHA:290
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Cardiac Valvular Dysplasia, X-Linked	Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T...	OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy...	OMIM:240500
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en...	OMIM:619424
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Neonatal Marfan Syndrome	Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Aortic root aneurysm,...	ORPHA:284979
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascit...	OMIM:256550
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse	ORPHA:2868
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy, Conjunctivitis	OMIM:617772
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ...	ORPHA:1686
Cirrhotic Cardiomyopathy	Left atrial enlargement, Pulmonary edema, Elevated pulmonary artery pressure, Fourth heart sound,...	ORPHA:57777
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca...	OMIM:614473
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Iris hypopigmentat...	ORPHA:381
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Galactose Mutarotase Deficiency	Cataract, Hepatomegaly, Cholestasis, Decreased liver function	ORPHA:570422
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Noonan Syndrome 3	Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Patent foramen ovale, Hypertrophic ca...	OMIM:609942
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye...	ORPHA:2585
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Aortic valve stenosis, Joint hemorrha...	OMIM:193400
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:228410
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Mitral Valve Prolapse 1	Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Takenouchi-Kosaki Syndrome	Optic atrophy, Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Abnormal card...	OMIM:616737
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:608540
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:79312
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi...	ORPHA:99104
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Mitral valve prolapse	ORPHA:2233
Glanzmann Thrombasthenia 2	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g...	OMIM:619267
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse	OMIM:616166
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
10Q22.3Q23.3 Microdeletion Syndrome	Failure to thrive, Tricuspid valve prolapse, Atrioventricular canal defect	ORPHA:276413
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Emphysema...	ORPHA:558
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,...	ORPHA:555877
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Splenomegaly	OMIM:602271
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Cataract, Hepatic steatosis	OMIM:606069
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Melnick-Needles Syndrome	Stillbirth, Tricuspid valve prolapse, Pulmonary arterial hypertension, Failure to thrive, Mitral ...	OMIM:309350
Mulibrey Nanism	Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro...	OMIM:253250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent lower respiratory tract infections, Recurrent respiratory infections, Pancytopenia, B l...	OMIM:618986
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Mitral valve prolapse	ORPHA:2183
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy	OMIM:204000
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Mass Syndrome	Mitral valve prolapse, Aortic aneurysm	OMIM:604308
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect	ORPHA:96129
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia, Left ventricular hypertrophy	OMIM:611209
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Down Syndrome	Atrioventricular canal defect, Patent foramen ovale, Myeloproliferative disorder, Ebstein anomaly...	OMIM:190685
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Immunodeficiency 32B	Anemia, Monocytopenia, Bronchiectasis, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenom...	OMIM:226990
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Abnormality of the lymphatic system, Total anomalous pulmonary venous return, Incr...	ORPHA:487796
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Ehlers-Danlos Syndrome, Hypermobility Type	Mitral valve prolapse	OMIM:130020
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract...	OMIM:618805
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Marfan Syndrome	Pneumothorax, Congestive heart failure, Tricuspid valve prolapse, Emphysema, Mitral annular calci...	OMIM:154700
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Mitral valve prolapse	OMIM:211960
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Con...	ORPHA:3392
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Abnormality...	ORPHA:1451
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Aniridia	ORPHA:654
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Intraalveo...	OMIM:620565
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
Sialidosis Type 2	Ascites, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:87876
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Bernard-Soulier Syndrome	Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce...	ORPHA:274
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Classic Multiminicore Myopathy	Congestive heart failure, Failure to thrive, Right ventricular failure, Right ventricular hypertr...	ORPHA:324604
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Impaired clot ret...	OMIM:273800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent...	ORPHA:1677
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome...	ORPHA:3318
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Cardiomyopathy, Dilated, 2H	Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s...	OMIM:620203
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf...	OMIM:620609
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi...	OMIM:616028
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val...	OMIM:609008
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Mitral regurgitation, Tricuspid regurgitation	ORPHA:1101
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Bifid Nose With Or Without Anorectal And Renal Anomalies	Ebstein anomaly of the tricuspid valve	OMIM:608980
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:617591
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate...	ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Mosaic Trisomy 20	Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve	ORPHA:1724
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse	OMIM:225320
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Iris hypopigm...	OMIM:214500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology	OMIM:601612
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
16P12.1P12.3 Triplication Syndrome	Abnormal tricuspid valve morphology, Failure to thrive, Abnormal heart morphology, Tachycardia, A...	ORPHA:485405
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect	OMIM:616589
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Congenital Heart Defects, Multiple Types, 9	Left axis deviation, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmon...	OMIM:620294
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Patent foramen ovale, Failure to thrive, Dysplastic tricuspid...	OMIM:157800
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Recurrent respiratory infecti...	ORPHA:7
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Immunodeficiency 11A	Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c...	OMIM:615206
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Hepatomegaly, Ventricular septal defect, Optic disc pallor	OMIM:613730
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Cap Myopathy	Aortic root aneurysm, Sinus tachycardia, Mitral valve prolapse, Reduced systolic function	ORPHA:171881
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Hepatic fibrosis, Splenomegaly, Retinal degeneration, Ventricular sept...	OMIM:615630
Camurati-Engelmann Disease, Type 2	Mitral regurgitation, Mitral valve prolapse	OMIM:606631
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Orthostatic hypotension, Aortic root aneurysm, Abnormal heart valve phy...	ORPHA:287
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia	ORPHA:230839
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom...	ORPHA:160
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Aortic regurgitation, Recurrent respiratory infections, Decreased body ...	OMIM:618371
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Failure to thrive...	ORPHA:2556
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Atrial...	OMIM:208540
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Free Sialic Acid Storage Disease	Iris hypopigmentation, Hepatomegaly, Splenomegaly, Ascites	ORPHA:834
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology	ORPHA:2412
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ...	ORPHA:466791
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ...	OMIM:230400
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular fai...	ORPHA:100078
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, ...	ORPHA:585
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the live...	ORPHA:91138
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Mitral valve prolapse	OMIM:225310
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Central Core Disease	Mitral valve prolapse	ORPHA:597
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Mitral valve prolapse	OMIM:173900
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Cardiofaciocutaneous Syndrome 2	Mitral valve prolapse	OMIM:615278
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Tricuspid valve prolapse, Aortic regurgitation, Tricuspid regurgitation, Mitral val...	OMIM:601776
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath...	OMIM:264800
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Galactokinase Deficiency	Cataract, Nuclear cataract, Hepatomegaly, Hepatosplenomegaly	ORPHA:79237
Roifman Syndrome	Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Tricuspid valve prolapse, Pulmonary arterial hypertension	ORPHA:2396
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse	OMIM:615539
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Geleophysic Dysplasia 2	Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral stenosis, Mitr...	OMIM:614185
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Biliary tract obstruct...	ORPHA:77259
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Cardiospondylocarpofacial Syndrome	Mitral regurgitation, Mitral valve prolapse	ORPHA:3238
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocyt...	OMIM:602782
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Stickler Syndrome Type 1	Mitral valve prolapse	ORPHA:90653
Tangier Disease	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Juvenile Sialidosis Type 2	Optic atrophy, Hepatomegaly, Corneal opacity, Visceromegaly, Abnormal heart morphology, Hepatospl...	ORPHA:93399
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona...	ORPHA:2847
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Fragile X Syndrome	Ascending tubular aorta aneurysm, Mitral valve prolapse	ORPHA:908
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial effusion, Sp...	ORPHA:36412
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Dental Anomalies And Short Stature	Mitral valve prolapse	OMIM:601216
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Cohen Syndrome	Childhood-onset truncal obesity, Leukopenia, Mitral valve prolapse, Small for gestational age, Ne...	OMIM:216550
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Mitral regurgitation, Mitral valve prolapse, Pleuritis	ORPHA:2848
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia	OMIM:608885
Hypoplastic Left Heart Syndrome	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia	ORPHA:2248
Fragile X Syndrome	Mitral valve prolapse	OMIM:300624
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Macular degener...	ORPHA:333
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Congenital Contractural Arachnodactyly	Slender build, Mitral valve prolapse, Aortic aneurysm	ORPHA:115
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ...	ORPHA:549
Tangier Disease	Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange ...	ORPHA:31150
Cronkhite-Canada Syndrome	Cataract, Hepatomegaly, Anemia, Splenomegaly	ORPHA:2930
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count	OMIM:616050
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Optic disc pallor	ORPHA:309288
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno...	OMIM:617388
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Scheie Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Ventricular septal defect, Tricuspid regurgitation	ORPHA:261337
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjunctivitis sic...	ORPHA:809
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Prolidase Deficiency	Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly, Elevated circu...	OMIM:170100
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse	ORPHA:309155
Muckle-Wells Syndrome	Optic atrophy, Hepatomegaly, Anemia, Splenomegaly, Conjunctivitis	ORPHA:575
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloidosis, Cervical lymphadenopathy	OMIM:142680
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Ectopia Lentis 1, Isolated, Autosomal Dominant	Aortic root aneurysm, Mitral valve prolapse	OMIM:129600
Refsum Disease, Classic	Cataract, Retinal degeneration, Cardiomyopathy, Cardiomegaly	OMIM:266500
Lymphedema-Hypoparathyroidism Syndrome	Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphocytosis, Interstitial pneumonitis, Cardiac arrest, Weight loss, Eosinophilia	ORPHA:139402
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Peters anomaly	OMIM:618652
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the...	OMIM:214110
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t...	OMIM:600001
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Congenital Sialidosis Type 2	Optic atrophy, Hepatomegaly, Corneal opacity, Ascites, Abnormal heart morphology, Developmental c...	ORPHA:93400
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal lung lobation, Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy,...	OMIM:607872
Congenital Syphilis	Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, H...	ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Astigmatism, Cardiomyopath...	OMIM:617713
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Charge Syndrome	Lymphopenia, Pulmonary artery atresia, Pulmonic stenosis, Secundum atrial septal defect, Tetralog...	OMIM:214800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Cardiomegaly	ORPHA:3137
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Papill...	ORPHA:2905
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphol...	ORPHA:230851
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Truncus arteriosus, Death in infancy, Systolic heart murmur, Tetralogy of Fall...	OMIM:617478
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Mitral valve prolapse	ORPHA:98
Mogs-Cdg	Optic atrophy, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, ...	ORPHA:79330
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Opt...	OMIM:260920
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Recurrent sinusitis, Recurrent lower respiratory tract infections, Mitral v...	OMIM:130000
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome...	OMIM:216360
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in...	OMIM:620570
Holt-Oram Syndrome	Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul...	OMIM:142900
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar...	OMIM:614008
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Corneal opacity, Hepatomegaly	ORPHA:349
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Gabriele-De Vries Syndrome	Small for gestational age, Patent foramen ovale, Ebstein anomaly of the tricuspid valve	ORPHA:506358
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Hypertroph...	ORPHA:500
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Frank-Ter Haar Syndrome	Mitral valve prolapse	ORPHA:137834
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocy...	OMIM:105650
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Death in infancy, Failure to thrive, Neonatal death, Int...	OMIM:265120
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Failure to thrive, Myocardial infarction, Mitral valve prolapse	OMIM:236200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c...	OMIM:615688
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Meacham Syndrome	Congenital alveolar dysplasia, Stillbirth, Transposition of the great arteries, Death in childhoo...	OMIM:608978
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Aortic aneurysm, Telangiectasia, Epistaxis, Hematochezia, Mitral valve prolapse, Mitral r...	OMIM:175050
Multiple Sulfatase Deficiency	Retinal degeneration, Hepatomegaly, Corneal opacity, Splenomegaly	OMIM:272200
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Atrial septal defect, Mitral valve prolapse	OMIM:300986
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:259700
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:121050
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk...	OMIM:620376
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Splenomegaly, Abnormality o...	ORPHA:33226
Costello Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Failure to thrive in infan...	ORPHA:3071
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Decreased body weight, Double outlet right ventricle, Atri...	ORPHA:1667
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal...	ORPHA:371428
Noonan Syndrome 10	Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve p...	OMIM:616564
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Ocular albinism, Impaired ADP-induced platelet aggr...	OMIM:608233
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leuk...	OMIM:259720
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Lymp...	OMIM:619745
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi...	ORPHA:1454
Brittle Cornea Syndrome 1	Mitral valve prolapse	OMIM:229200
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val...	OMIM:177850
Ehlers-Danlos Syndrome, Classic-Like, 1	Quadricuspid aortic valve, Mitral valve prolapse	OMIM:606408
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreati...	OMIM:610199
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra...	OMIM:608836
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardio...	ORPHA:758
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse	OMIM:258450
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Coffin-Lowry Syndrome	Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormal tricuspid valve morp...	ORPHA:192
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Hypertension, Mitral valve prolapse	ORPHA:449291
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly	OMIM:607015
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Hermansky-Pudlak Syndrome 10	Ocular albinism, Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Mucopolysaccharidosis Type 3	Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsilliti...	ORPHA:581
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Noonan Syndrome 13	Atrial septal defect, Mitral regurgitation, Mitral valve prolapse	OMIM:619087
Hsd10 Disease, Infantile Type	Optic atrophy, Retinal degeneration, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Oculofaciocardiodental Syndrome	Peripheral pulmonary artery stenosis, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Dahlberg-Borer-Newcomer Syndrome	Mitral valve prolapse	ORPHA:1563
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Zonular cataract, Hepatosplenomegaly, Cataract, Stomatocy...	ORPHA:168577
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Cat Eye Syndrome	Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo...	OMIM:115470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Cardiomyopathy, Cardiomegaly, Increased hepatic glycogen content	OMIM:619259
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Mitral valve prolapse	OMIM:618874
Microphthalmia/Coloboma 12	Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom...	OMIM:120200
Mucopolysaccharidosis Type 7	Corneal opacity, Ascites, Hepatitis, Splenomegaly	ORPHA:584
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Microa...	ORPHA:93552
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomegaly, Conjunc...	OMIM:263700
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Pulmonic stenosis, Paroxysmal atrial tac...	ORPHA:137605
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Corneal...	ORPHA:14
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ...	ORPHA:77261
Familial Multiple Lipomatosis	Abnormal tricuspid valve morphology	ORPHA:199276
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve pro...	OMIM:614816
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly, Conjunctivitis	OMIM:253260
Geleophysic Dysplasia 1	Congestive heart failure, Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve steno...	OMIM:231050
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:97287
Noonan Syndrome 2	Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,...	OMIM:605275
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Feingold Syndrome Type 1	Tricuspid stenosis, Abnormal heart morphology, Tricuspid atresia, Multiple muscular ventricular s...	ORPHA:391641
Osteogenesis Imperfecta, Type I	Mitral valve prolapse, Aortic aneurysm	OMIM:166200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Mitral valve prolapse	OMIM:618000
Cohen Syndrome	Obesity, Mitral valve prolapse, Failure to thrive in infancy, Ventricular septal defect, Neutropenia	ORPHA:193
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Tortuosity of conjunctival vessels	OMIM:230000
H Syndrome	Corneal arcus, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic an...	ORPHA:168569
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin...	ORPHA:97289
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Failure to thrive, Mitral valve prolapse, Ventricular septal de...	ORPHA:444072
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
8P11.2 Deletion Syndrome	Microcornea, Spherocytosis, Splenomegaly, Mitral valve prolapse, Atrial septal defect, Hemolytic ...	ORPHA:251066
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Ir...	OMIM:243605
Transketolase Deficiency	Hepatomegaly, Patent foramen ovale, Abnormal heart morphology, Conjunctivitis, Cataract, Atrial s...	ORPHA:488618
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg...	OMIM:616084
Neuroendocrine Neoplasm Of Appendix	Hypotension, Palpitations, Tricuspid stenosis, Heart murmur	ORPHA:100079
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula...	ORPHA:3260
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Splenomegaly	OMIM:612301
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath...	ORPHA:217085
Atelis Syndrome 2	Anemia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic stenosi...	OMIM:620185
Fg Syndrome Type 1	Pulmonary arterial hypertension, Atrial septal defect, Mitral valve prolapse, Slender build	ORPHA:93932
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card...	OMIM:610717
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Hepatomegaly	OMIM:612852
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath...	ORPHA:580
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Hypertension, Mitral valve prolapse	OMIM:616914
Arthrogryposis, Distal, Type 12	Mitral valve prolapse	OMIM:620545
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Aortic aneurysm, Recurrent pneumonia, Mitral valve prolapse, Arterial r...	ORPHA:1900
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath...	ORPHA:217093
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Feingold Syndrome 1	Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular septal defect, Pol...	OMIM:164280
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Conjunctivitis, Abnormal ...	ORPHA:32960
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Ascites, Hypertrophic cardiomyopathy	OMIM:616897
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Enlarge...	OMIM:276700
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Complete atriov...	OMIM:264480
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Knobloch Syndrome	Dextrocardia, Retinal detachment, Macular degeneration, Ectopia lentis, Lymphangioma, Cataract	ORPHA:1571
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Hypertension, Mitral valve prolapse	ORPHA:730
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Stickler Syndrome, Type I	Mitral valve prolapse	OMIM:108300
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Conjunctival hyperemia, Papilledema,...	ORPHA:509
Meckel Syndrome	Optic atrophy, Situs inversus totalis, Accessory spleen, Microcornea, Asplenia, Congenital hepati...	ORPHA:564
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio...	OMIM:143095
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Aortic root aneurysm, Patent foramen ovale, Mitral valve prolapse, Left ve...	OMIM:245600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification...	ORPHA:228308
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi...	ORPHA:508533
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Sunflower cataract, Kayser-Fleischer ...	OMIM:277900
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly	OMIM:239200
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Recurrent respiratory infections, Death in infancy, Tetralog...	ORPHA:1507
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Splenomegaly, Abnormal pulmonary ...	ORPHA:667
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic...	OMIM:620371
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Spondyloocular Syndrome	Atrial septal defect, Decreased body weight, Dysplastic aortic valve, Mitral valve prolapse	OMIM:605822
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Pericardial effusion,...	OMIM:615846
Histiocytoid Cardiomyopathy	Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Cardiomegaly, Ven...	ORPHA:137675
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomeg...	OMIM:252500
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Shprintzen-Goldberg Syndrome	Failure to thrive, Abnormal aortic valve morphology, Mitral regurgitation, Mitral valve prolapse	ORPHA:2462
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Weight loss, Mitral regurgitation, Mitral valve prolapse	OMIM:607459
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Blau Syndrome	Anemia, Lymphadenopathy, Cataract, Pericarditis, Keratitis, Splenomegaly, Abnormality of the liver	ORPHA:90340
Brittle Cornea Syndrome	Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Ventricular septal defect, Transient neutropenia, Mitral valve prolapse	OMIM:617107
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Punctate ...	OMIM:256040
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Pericarditis, Acute hepatic failure, Spleno...	ORPHA:342
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Aortic valve calcification, Corneal...	ORPHA:2072
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Wolff-Parkinson-White syndrome, Mitral valve prolapse	ORPHA:369950
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Cutis Laxa, Autosomal Recessive, Type Iic	Pneumothorax, Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Decreased bo...	OMIM:617402
Crimean-Congo Hemorrhagic Fever	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocyto...	ORPHA:99827
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Repeated pneumothoraces, Aortic root aneurysm, Ascending tubular aorta aneurysm, Pul...	ORPHA:536467
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Meester-Loeys Syndrome	Aortic root aneurysm, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Mitral valve p...	OMIM:300989
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal heart morphology, Dilatation of the ventricular cavity, Aortic regurgitation, Mitral val...	ORPHA:85438
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Gastrointestinal hemorrhage, Tricuspid atresia, Abnormal aortic valve mor...	ORPHA:567
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Weight loss, Decreased p...	OMIM:301074
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Cherubism	Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Mitral valve prolapse	OMIM:104350
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Abnormal right ventricle morphology, Chronic neutropenia, Transient ne...	ORPHA:500095
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Aicardi-Goutières Syndrome	Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Chronic lymphati...	ORPHA:51
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D...	ORPHA:2331
Hennekam Syndrome	Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiec...	ORPHA:2136
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal myocardium morphology, Catara...	ORPHA:117
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bundle branch block, Third...	OMIM:151100
Shprintzen-Goldberg Craniosynostosis Syndrome	Mitral valve prolapse, Aortic aneurysm	OMIM:182212
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Abnormal heart morphology, Atrial ...	ORPHA:97360
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral valve prolapse, Bicuspid aortic valve, Mitral regurgit...	OMIM:611962
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Abnormality of the sple...	ORPHA:228123
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent foram...	OMIM:610168
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Frank-Ter Haar Syndrome	Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v...	OMIM:249420
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep...	OMIM:269700
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Pericardial effusion, Mitral valve prolapse	ORPHA:536532
Frontometaphyseal Dysplasia 1	Cor pulmonale, Mitral valve prolapse	OMIM:305620
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Arterial rupture, Spon...	OMIM:130050
Lymphangioleiomyomatosis	Optic atrophy, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, P...	ORPHA:538
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Failure to thrive, Obesity, Abnormal heart morphology, Mitral valve prolaps...	OMIM:615873
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449432
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Abnormal cardiac ...	ORPHA:97297
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Costello Syndrome	Pneumothorax, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thrive, Mitral valve pro...	OMIM:218040
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Optic nerve compression, Thrombocytopenia, Retroperitoneal fibrosis, Keratoconju...	ORPHA:79078
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis,...	ORPHA:449395
Multicentric Osteolysis, Nodulosis, And Arthropathy	Mitral valve prolapse	OMIM:259600
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Loeys-Dietz Syndrome 3	Pneumothorax, Aortic regurgitation, Aortic aneurysm, Atrial fibrillation, Ventricular hypertrophy...	OMIM:613795
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Jaundice, Macrovesicular hepat...	OMIM:300855
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Granuloma, Abnormal heart m...	ORPHA:363700
Rubinstein-Taybi Syndrome 1	Perimembranous ventricular septal defect, Accessory spleen, Patent foramen ovale, Failure to thri...	OMIM:180849
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Aortic root aneurysm, Bicuspid pul...	OMIM:609192
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Pul...	ORPHA:666
Neurooculorenal Syndrome	Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro...	OMIM:620305
Atypical Werner Syndrome	Congestive heart failure, Hypertension, Decreased body weight, Neoplasm of the lung, Aortic valve...	ORPHA:79474
Williams Syndrome	Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid...	ORPHA:904
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Keratitis, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449563
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Pericarditis, Papilledema, Hepatosp...	ORPHA:3385
Microphthalmia, Syndromic 2	Dextrocardia, Decreased body weight, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prola...	OMIM:300166
Viss Syndrome	Pneumothorax, Atrial septal defect, Pulmonary artery aneurysm, Epidural hemorrhage, Emphysema, Ao...	OMIM:619472
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblastoma	OMIM:130650
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Plague	Mydriasis, Hepatomegaly, Lymphadenitis, Conjunctival hyperemia, Splenomegaly, Enlarged mesenteric...	ORPHA:707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Neuroocular Syndrome	Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Lens c...	OMIM:619539
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Stickler Syndrome	Cachexia, Slender build, Mitral valve prolapse, Arrhythmia, Recurrent respiratory infections	ORPHA:828
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Hypertension, Portal hypertension, Coronary artery stenosis...	OMIM:194050
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Epistaxis, Raynaud phenomenon, Mitral val...	ORPHA:285
Yunis-Varon Syndrome	Cardiomegaly, Cardiomyopathy, Sclerocornea, Tetralogy of Fallot, Cataract, Atrial septal defect, ...	ORPHA:3472
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Pulmonary artery aneurysm, Aortic aneurysm, Abnormal heart valve morphology, Ascend...	ORPHA:286
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Retinal hemorrhage, Pericardial effusion, Pancreatic calcificat...	ORPHA:51608
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Holoprosencephaly 2	Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

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 Pdlim7

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Pdlim7.

No publications found that use IMPC mice or data for Pdlim7.

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MGI Allele	Allele Type	Produced
Pdlim7^{tm373584(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pdlim7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Pdlim7 MGI:1914649

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Pdlim7 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data