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Gene: Acoxl MGI:1921371

Gene Summary

Name:

acyl-Coenzyme A oxidase-like

Synonyms:

1200014P05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Acoxl^em1(IMPC)Mbp	HOM	Early adult	0.00
absent seminal vesicle	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
improved glucose tolerance	Acoxl^em1(IMPC)Mbp	HOM	Late adult	2.55×10^-05
small heart	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal adrenal gland morphology	Acoxl^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Acoxl^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased lymphocyte cell number	Acoxl^em1(IMPC)Mbp	HOM	Early adult	1.66×10^-06
decreased exploration in new environment	Acoxl^em1(IMPC)Mbp	HOM	Early adult	4.23×10^-05
enlarged lymph nodes	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00
increased neutrophil cell number	Acoxl^em1(IMPC)Mbp	HOM	Early adult	2.96×10^-09
cataract	Acoxl^em1(IMPC)Mbp	HOM	Early adult	8.12×10^-06
enlarged seminal vesicle	Acoxl^em1(IMPC)Mbp	HOM	Late adult	0.00

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Histopathology

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Human diseases caused by Acoxl 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 Acoxl (0 diseases)
Human diseases predicted to be associated with Acoxl (865 diseases)

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

The table below shows human diseases predicted to be associated to Acoxl 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
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Ethanolaminosis	Cardiomegaly	OMIM:227150
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy	OMIM:609016
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries, Diabetes me...	ORPHA:79084
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricular septal defec...	OMIM:614876
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular adrenal hy...	OMIM:219080
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus, G...	OMIM:606069
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated...	OMIM:615158
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Trimethylaminuria	Depression, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 8 With Lymphoproliferation	Attention deficit hyperactivity disorder, Lymphopenia	OMIM:615401
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st...	OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Glycogen Storage Disease Ixb	Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly...	OMIM:613027
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Glycogen Storage Disease Vi	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased he...	OMIM:232700
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
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
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,...	OMIM:615830
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atrophy, P...	ORPHA:465508
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio...	OMIM:619048
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276580
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, C...	OMIM:232400
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Cog7-Cdg	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal heart m...	ORPHA:79333
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Propionic Acidemia	Hypoglycemia, Hepatomegaly, Cardiomyopathy	ORPHA:35
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, H...	OMIM:615630
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diab...	ORPHA:290
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha...	OMIM:602782
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276575
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab...	ORPHA:324575
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, T...	ORPHA:99812
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hepatic failure	ORPHA:664
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hypertrophic cardiomyopathy, Splenomega...	ORPHA:79083
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Atelis Syndrome 1	Anemia, Attention deficit hyperactivity disorder, Hypothyroidism, Thrombocytopenia, Leukopenia, C...	OMIM:620184
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration	OMIM:201910
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
3-Methylglutaconic Aciduria Type 4	Cataract, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia	ORPHA:67048
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Micropenis, Cryptorchidism	OMIM:613861
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Nonketotic hypoglycemia, Hepatoce...	OMIM:201475
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Hemochromatosis, Type 3	Anemia, Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia	OMIM:604250
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased...	OMIM:615954
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Abnormal circulating renin, Ventricular hypertrophy, Adrenal hyperplasia, Hyperaldosteronism, Ven...	ORPHA:369929
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem...	ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic steatosis, Hepa...	OMIM:617872
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr...	ORPHA:189427
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Atrial...	OMIM:208540
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Cryptorchidism	OMIM:613730
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
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect	OMIM:616589
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Insulin resistance, Polycy...	ORPHA:2348
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hypoglycemia, Abnormal lymphocyte cou...	OMIM:612783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia	OMIM:614702
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade...	OMIM:619644
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism	OMIM:618958
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens	ORPHA:1381
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Thrombocytopenia, Tetralogy of Fallot, Lym...	OMIM:618624
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Anemia	OMIM:618838
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly	ORPHA:890
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
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Neonatal hypoglycemi...	OMIM:619418
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial effusion, Sp...	ORPHA:36412
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly, Macrocytic anemia	OMIM:619046
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:615381
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia	ORPHA:79237
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level, Hydrocele t...	ORPHA:96181
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Fasting hypoglycemia, E...	ORPHA:264580
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hyperinsulinemia, H...	ORPHA:528
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Diabet...	ORPHA:2905
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Insulin resistance, Polycystic ovaries, Hepatic steatosis, Insulin-resistant diabet...	ORPHA:79085
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:240950
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Mogs-Cdg	External genital hypoplasia, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ...	ORPHA:549
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal aortic valve morphology, Hepatomegaly, Hypospadias, Hypertrophic cardiomyopathy, Cryptor...	ORPHA:1194
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Dilated ...	OMIM:618805
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect	ORPHA:3449
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Thrombocytopenia	ORPHA:2123
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom...	ORPHA:160
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Cushing Disease	Dementia, Memory impairment, Depression, Decreased eosinophil count, Emotional lability, Increase...	ORPHA:96253
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Type I diabetes mellitus, Throm...	OMIM:304790
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Aredyld Syndrome	Type I diabetes mellitus, Hepatomegaly, Splenomegaly, Type II diabetes mellitus	ORPHA:1133
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ventricular septal...	ORPHA:1655
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Cardiomegaly	ORPHA:3137
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Mental deterioration	OMIM:619051
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ...	OMIM:618986
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath...	ORPHA:156
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Lymphopen...	OMIM:618849
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Timothy Syndrome	Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular septal defect	OMIM:601005
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco...	ORPHA:90791
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, ...	OMIM:614582
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepat...	OMIM:602579
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Left ventr...	OMIM:617713
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycemia, Elevated circulati...	ORPHA:79240
Sneddon Syndrome	Bicuspid aortic valve, Mental deterioration, Lymphopenia	OMIM:182410
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, H...	ORPHA:5
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Ataxia-Telangiectasia	Delayed puberty, Abnormal testis morphology, Cognitive impairment, Type II diabetes mellitus, Lym...	ORPHA:100
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Depression, Abnormal proportion of CD8-positive T cells, Emot...	ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Splenomegaly, Pulm...	OMIM:235255
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card...	OMIM:610717
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
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
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Cardiomyopathy, Insulin resistance...	ORPHA:79086
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Elevated circulating aspartate aminot...	OMIM:620454
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ...	OMIM:230400
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Hyperinsulinemia, Elevated circulating hepatic tra...	OMIM:608594
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis, Insulin-resistant diabetes mel...	ORPHA:435651
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopenia	ORPHA:27
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Hyperinsulinemia, Elevated circulating hepatic tra...	OMIM:269700
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Hypoparathyroidism, Familial Isolated, 1	Cataract, Irritability, Decreased circulating parathyroid hormone level, Hypoparathyroidism	OMIM:146200
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly	ORPHA:234
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the ...	OMIM:214110
Refsum Disease, Classic	Cataract, Cardiomyopathy, Cardiomegaly	OMIM:266500
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Hepatomegaly, Insulin resistance, Polycystic ovaries, Hepatic s...	ORPHA:435660
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra...	OMIM:608836
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micro...	OMIM:616897
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating ala...	OMIM:617253
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
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
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Glycosuria...	ORPHA:552
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ...	ORPHA:99889
Cataract 47	Cataract, Microcornea	OMIM:612018
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath...	OMIM:230500
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Ele...	ORPHA:1667
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Adrenal gland agenesis	OMIM:611812
Fanconi-Bickel Syndrome	Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
H Syndrome	Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hyp...	ORPHA:168569
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Enlarged kidney, Cardiomegaly, Cardiomyopathy, Pancreatic hy...	OMIM:130650
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252930
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven...	OMIM:212138
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:391428
Juvenile Sialidosis Type 2	Abnormal heart morphology, Visceromegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:93399
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio...	ORPHA:95699
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hepat...	ORPHA:79319
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hypertrophic cardiomyopathy, Hydrocele testis	OMIM:618810
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ...	ORPHA:90790
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Mitral valve prolaps...	ORPHA:251066
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ...	OMIM:201810
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Whipple Disease	Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Pericarditis, Splenomegaly, Insul...	ORPHA:3452
Transketolase Deficiency	Hepatomegaly, Patent foramen ovale, Attention deficit hyperactivity disorder, Abnormal heart morp...	ORPHA:488618
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Cardiomyopathy, Abnormal myocardium morphology, Cardiomeg...	ORPHA:228308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Acute pancreatitis...	OMIM:619487
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae, Cognitive impairment	ORPHA:1885
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Aa Amyloidosis	Abnormal heart morphology, Enlarged kidney, Hepatomegaly, Cholestasis	ORPHA:85445
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Elevated circulating hepatic transaminase ...	ORPHA:263455
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Hepatomegaly	ORPHA:422
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Beck-Fahrner Syndrome	Depression, Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly	OMIM:618798
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Developmental cataract, Lymphopenia, Cataract, Neutropenia	OMIM:616395
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s...	ORPHA:2035
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Abnormal myocar...	ORPHA:32960
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hepatomegaly, Hepatic steatosis	OMIM:615238
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp...	ORPHA:786
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure	ORPHA:60
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Hypertrophic cardiomyopathy, Right atrial enlargement, Int...	ORPHA:75249
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Leukopenia, Thrombocy...	ORPHA:508542
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Elevated circulating hepatic transaminase conce...	OMIM:276700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomega...	ORPHA:499009
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Insulin resistance, Polycy...	ORPHA:280365
Reni Syndrome	Hypothyroidism, Hypogonadism, Lymphopenia, Cryptorchidism, Mental deterioration, Adrenal insuffic...	OMIM:617575
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hepatic cysts	OMIM:613095
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ...	ORPHA:77261
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly	OMIM:617388
Staphylococcal Necrotizing Pneumonia	Confusion, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Leukope...	ORPHA:36238
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230000
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Microa...	ORPHA:93552
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Pericarditis, Acute hepatic failure, Spleno...	ORPHA:342
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Al Amyloidosis	Abnormal salivary gland morphology, Hepatomegaly, Anemia, Howell-Jolly bodies, Abnormal cardiac v...	ORPHA:85443
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Cholestasis, Ventricular septal defect, Pulmonic ...	OMIM:222470
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Norrie Disease	Buphthalmos, Dementia, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukoco...	OMIM:310600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia	OMIM:200995
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Cognitive impairment, Myocardial fibrosis, Card...	OMIM:300257
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia	ORPHA:169160
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Acute Radiation Syndrome	Cataract, Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
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
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Confusion, Cardiomyopathy, Dementia	OMIM:105210
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Vici Syndrome	Atrial septal defect, Ocular albinism, Cardiomyopathy, T lymphocytopenia, Left ventricular hypert...	OMIM:242840
Tetraamelia Syndrome 1	Cataract, Adrenal gland agenesis, Asplenia	OMIM:273395
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Cognitive impairment, Hypothyroidism, Cryptorchidism, Lymphopenia, Cataract, Dilated card...	OMIM:616541
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Per...	OMIM:261740
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Lab...	OMIM:151660
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ovarian neoplasm, Adrenoco...	ORPHA:100079
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Enlarged kidney, Abnormal pancreas morphology, Cardiomegaly,...	ORPHA:116
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg...	OMIM:616084
Mirage Syndrome	Anemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplasti...	OMIM:617053
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Ventricular septal defect, Complete atrioventricular canal defect, Acce...	OMIM:236680
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Abnormal mitral valve morp...	ORPHA:581
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Autoimmune Polyendocrine Syndrome, Type Ii	Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidism, Primary...	OMIM:269200
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Cowden Syndrome 1	Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Lymphopenia, Catarac...	OMIM:158350
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula...	ORPHA:3260
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism	OMIM:620365
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Hepatosplenomegaly, Exocrine pancreatic...	OMIM:219700
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Down Syndrome	Delayed puberty, Atrioventricular canal defect, Leukemia, Keratoconus, Polycythemia, Neutrophilia...	ORPHA:870
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Lymphangioleiomyomatosis	Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Pulmonary lympha...	ORPHA:538
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul...	ORPHA:14
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Doors Syndrome	Congenital hypothyroidism, Adrenal hyperplasia, Cataract, Thrombocytosis, Double outlet right ven...	ORPHA:79500
Somatostatinoma	Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch...	ORPHA:97283
Crimean-Congo Hemorrhagic Fever	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Acute pancreatitis...	ORPHA:99827
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t...	OMIM:620565
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Increased ...	ORPHA:97282
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98908
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Pericardial effusion,...	OMIM:615846
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Hennekam Syndrome	Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiec...	ORPHA:2136
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Prostatitis, Pancreatitis, Lymphadenopathy, Sclerosing...	ORPHA:449395
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Ogden Syndrome	Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic...	OMIM:300855
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly, Abnormal myocardium morpholo...	ORPHA:117
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, Left ventricular...	OMIM:300967
Leprechaunism	Clitoral hypertrophy, Hepatomegaly, Hyperinsulinemia, Enlarged kidney, Postprandial hyperglycemia...	ORPHA:508
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom...	ORPHA:797
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth...	ORPHA:391487
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Phace Syndrome	Abnormal cardiac septum morphology, Heterochromia iridis, Hypothyroidism, Abnormal heart morpholo...	ORPHA:42775
Glucagonoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Increased ...	ORPHA:97280
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal...	ORPHA:90340
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia	OMIM:617088
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
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Ataxia-Telangiectasia	Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Conjunctival telangiectasia, Female...	OMIM:208900
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Patent foramen ovale, Hypothyroidism, Severe B lymphocytopenia, Thrombo...	OMIM:620005
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D...	ORPHA:2331
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Thrombocytopenia, Elevated serum transamin...	ORPHA:509
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Hepatomegaly	OMIM:612852
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Conjunctivitis,...	ORPHA:906
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Malakoplakia	Orchitis, Prostate neoplasm, Follicular hyperplasia	ORPHA:556
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Whim Syndrome	Parotitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Neutropenia	ORPHA:51636
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Anemia, Lymphopenia	ORPHA:935
Williams Syndrome	Corneal opacity, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aortic valve, Cardiomegaly, A...	ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot...	ORPHA:3472
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Pericarditis, Hep...	ORPHA:3385
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Pheochromocytoma, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Par...	ORPHA:653
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Pericardial effusion, Pancreatic calcification, Cardiomegaly, H...	ORPHA:51608
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Seminal vesicle - MPATH pathological process term necrotic inflammation	Acoxl^em1(IMPC)Mbp	HOM		Early adult

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 Acoxl.

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

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MGI Allele	Allele Type	Produced
Acoxl^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Acoxl^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Acoxl^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: Acoxl MGI:1921371

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Human diseases caused by Acoxl mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data