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Gene: Trap1 MGI:1915265

Gene Summary

Name:

TNF receptor-associated protein 1

Synonyms:

HSP75, 2410002K23Rik

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
decreased circulating phosphate level	Trap1^em1(IMPC)Mbp	HOM	Early adult	3.46×10^-05
thrombocytopenia	Trap1^em1(IMPC)Mbp	HOM	Early adult	1.31×10^-16
abnormal lymph node morphology	Trap1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased monocyte cell number	Trap1^em1(IMPC)Mbp	HOM	Early adult	6.82×10^-05
decreased circulating creatinine level	Trap1^em1(IMPC)Mbp	HOM	Early adult	7.95×10^-05
abnormal eye morphology	Trap1^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

16 Images

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Human diseases caused by Trap1 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 Trap1 (0 diseases)
Human diseases predicted to be associated with Trap1 (983 diseases)

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

The table below shows human diseases predicted to be associated to Trap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili...	OMIM:226990
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly, Failure to thrive in infancy	OMIM:619175
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Increased blood urea nitrogen, Failure to thrive, Eleva...	OMIM:617872
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:603552
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo...	OMIM:607616
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:613101
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind...	OMIM:619130
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia, Hepatomegaly	ORPHA:67046
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thrive, Splenomegaly, Neoplasm	ORPHA:172
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp...	ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Galactosemia Iii	Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoaciduria	OMIM:230350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Aminoaciduria	ORPHA:79238
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab...	ORPHA:324575
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Dent Disease 2	Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis...	OMIM:300635
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co...	OMIM:613011
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Capillary hemangioma, Nephroblastom...	ORPHA:2849
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Glycogen Storage Disease Ixb	Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hypoglycemia	OMIM:261750
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Recurrent ski...	OMIM:617744
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, ...	ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Fanconi Renotubular Syndrome 5	Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi...	OMIM:620357
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Wolman Disease	Failure to thrive, Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto...	OMIM:308240
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Skin rash, Leukocytosis, Failure to thriv...	OMIM:618963
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Insulin resistance, Hepatosplenomegaly, Splenom...	OMIM:612526
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276575
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Alpha-Heavy Chain Disease	Hypocalcemia, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100025
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas...	OMIM:613313
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:261650
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Leishmaniasis	Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ...	ORPHA:507
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellit...	OMIM:606069
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276580
Coach Syndrome 2	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hepatic fibrosis, Conge...	OMIM:619111
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis, Failure to thrive	ORPHA:570422
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla...	ORPHA:276556
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu...	OMIM:615160
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
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
Hyperparathyroidism, Neonatal Severe	Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly, Aminoaciduria	OMIM:239200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure	ORPHA:664
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Hemochromatosis, Neonatal	Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P...	OMIM:231100
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries, Diabetes me...	ORPHA:79084
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C...	OMIM:615559
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Preeclampsia	Elevated circulating hepatic transaminase concentration, Abnormality of the hepatic vasculature, ...	ORPHA:275555
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Weigh...	ORPHA:103918
Solitary Fibrous Tumor	Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Genital neoplasm, Neoplasm...	ORPHA:2126
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis	ORPHA:42642
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Lymphade...	OMIM:267700
Propionic Acidemia	Hyperammonemia, Hypoglycemia, Hepatomegaly	ORPHA:35
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Neutrop...	OMIM:619644
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Chromosome breakage, Failure t...	OMIM:609981
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Transaldolase Deficiency	Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th...	ORPHA:101028
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Failure to thrive, Thromboc...	OMIM:608104
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Splenomegaly, We...	ORPHA:391
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Mody	Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-...	ORPHA:552
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Elevate...	OMIM:243500
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Failu...	ORPHA:79237
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Skin rash, Synovitis, Elevated circulating creatinine concentration, Serositis, Glomer...	ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ...	OMIM:603909
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Lymphoma, Recurrent...	OMIM:240500
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Leukocytosis, Hypophosphatemia, S...	ORPHA:289157
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Immunodeficiency 84	B lymphocytopenia, B-cell lymphoma, Splenomegaly, Perianal abscess	OMIM:619437
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho...	OMIM:307800
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated c...	OMIM:232400
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pa...	ORPHA:83469
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thrive, Exocrine p...	OMIM:612714
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Fanconi Renotubular Syndrome 1	Aminoaciduria, Hypophosphatemia, Hypokalemia	OMIM:134600
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co...	ORPHA:54251
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ...	ORPHA:158061
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Cystinosis	Aminoaciduria, Hypophosphatemia, Hypokalemia	ORPHA:213
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
Griscelli Syndrome Type 2	Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Sea-Blue Histiocytosis	Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Increased blood urea nitrogen, Glycosuri...	OMIM:614817
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Hypophosphatemia	OMIM:616026
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria	OMIM:264700
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase...	OMIM:620603
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:617049
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:235555
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic...	ORPHA:848
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to th...	OMIM:618495
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l...	OMIM:603554
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy...	OMIM:301078
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni...	OMIM:613845
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy...	OMIM:227810
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Arthritis, Increased circulating iron concentration, Splenomegaly, Incre...	OMIM:602390
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Anemia,...	ORPHA:75563
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega...	OMIM:230400
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Heme Oxygenase 1 Deficiency	Thrombocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Asplenia,...	OMIM:614034
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ...	ORPHA:2298
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:601859
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis...	OMIM:208540
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypoproteinemia, I...	OMIM:603553
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Focal pan...	ORPHA:79644
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Anemia	ORPHA:2123
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra...	OMIM:608836
Primary Myelofibrosis	Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis...	ORPHA:824
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, Hepatosplenome...	OMIM:612840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Generalized aminoaciduria	OMIM:613388
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt...	ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia	ORPHA:27
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Small for gestational age, Left ventricular hypert...	OMIM:616733
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Failure to thrive in in...	ORPHA:6
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:858
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Increased circulating ferritin concentration, Thrombocytopenia, Hepa...	ORPHA:210136
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Pearson Syndrome	Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Bone marrow hy...	ORPHA:699
Griscelli Syndrome	Abnormal circulating lipid concentration, Lymphadenopathy, Bone marrow hypocellularity, Thrombocy...	ORPHA:381
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Anemia	OMIM:620366
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Lymphade...	ORPHA:85450
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Pyruvate Carboxylase Deficiency	Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Hepatomegaly	OMIM:266150
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hypophosphatemic rickets, Elevate...	ORPHA:263455
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Decreased methylmalonyl-CoA mutase act...	OMIM:251110
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ...	OMIM:260370
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, He...	ORPHA:98850
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis	ORPHA:90060
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content...	ORPHA:2088
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto...	ORPHA:100026
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Hepati...	OMIM:613095
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutr...	OMIM:603585
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:274150
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:619151
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, E...	ORPHA:264580
Tafro Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr...	ORPHA:457077
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph...	ORPHA:47612
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Failure to thrive...	ORPHA:77297
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Hyperglycinuria, Eczematoid dermatitis, Hyperam...	OMIM:606054
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Homocystinuria, Elevated circul...	OMIM:614857
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Anemia, Transient hypophosphatemia	OMIM:127000
Babesiosis	Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Hyperammonemia, Failure to thrive, Leukopenia...	OMIM:251000
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Type I diabetes mellitu...	OMIM:614700
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly	ORPHA:79292
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Bronchiec...	ORPHA:60
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I...	ORPHA:36234
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Sp...	ORPHA:79083
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Elevated circulating hepatic transa...	OMIM:214950
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Elevated circulating h...	OMIM:617591
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thr...	OMIM:618886
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:137920
Indolent Systemic Mastocytosis	Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m...	ORPHA:98848
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Hypoglycemia, Elevated circulating ...	OMIM:617093
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cho...	ORPHA:231222
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,...	ORPHA:39041
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Arthritis, Hepatocellular...	ORPHA:465508
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp...	OMIM:618641
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Aceruloplasminemia	Hypochromic microcytic anemia, Decreased circulating ceruloplasmin concentration, Decreased circu...	ORPHA:48818
Castleman Disease	Anemia, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymph...	ORPHA:160
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	ORPHA:540
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hypophosphatemia, Pancytopenia	ORPHA:562
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,...	OMIM:167800
Pancreatic Agenesis 2	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, ...	OMIM:615935
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Hyperammonemia, Elevated circulating ...	OMIM:620454
Cystinosis, Nephropathic	Hypophosphatemic rickets, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypokalemia, De...	OMIM:219800
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul...	ORPHA:79086
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Lymphocytoma cut...	ORPHA:449395
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Aminoaciduria	OMIM:249270
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly	ORPHA:667
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, P...	OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni...	ORPHA:292
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Decreased circu...	ORPHA:3337
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Kaposi's sarc...	OMIM:612783
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Cog4-Cdg	Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:294
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Aminoaciduria, Neutropenia	OMIM:614520
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to thriv...	OMIM:602450
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Aminoaciduria, Hypophosphatemia, Hypokalemia	ORPHA:411629
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Pancytopenia, Splenic...	ORPHA:77259
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Beckwith-Wiedemann Syndrome	Enlarged kidney, Rhabdomyosarcoma, Large intestinal polyposis, Splenomegaly, Neoplasm, Cardiomega...	ORPHA:116
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Eczematoi...	OMIM:616100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Abn...	ORPHA:1451
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Pituitary growth hormone cell adenoma, Polycystic liver disease, Hepatic cysts, ...	ORPHA:730
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss	ORPHA:33577
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Failure to thri...	ORPHA:2470
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Hereditary Chronic Pancreatitis	Jaundice, Elevated circulating C-reactive protein concentration, Leukocytosis, Pancreatic calcifi...	ORPHA:676
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Pancytopenia, Cystathioninuria, Hyperhomocystinemia, Megaloblasti...	OMIM:277380
Tyrosinemia, Type I	Enlarged kidney, Hypophosphatemic rickets, Cirrhosis, Hepatomegaly, Anemia, Hypertyrosinemia, Ele...	OMIM:276700
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Fetal Gaucher Disease	Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:85212
Infantile Liver Failure Syndrome 2	Jaundice, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic ...	OMIM:616483
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Reduced haptoglobin level, Anemia, Reduced hematocrit, Hyperbilirubinemia, Anemia o...	OMIM:613673
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad...	ORPHA:1572
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, Abnormal blood i...	ORPHA:37042
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap...	ORPHA:169105
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:620565
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hypercholesterolemia, Amin...	ORPHA:534
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232200
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Splenomegaly, Impaired neutrophil bacteric...	OMIM:214500
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Hypoglycemia, Increased blood urea nitrogen, Rhinitis, Insulin resistan...	ORPHA:230
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H...	OMIM:615895
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Skin rash, Abnormality of the hepatic vasculature, Pneumo...	ORPHA:247691
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, G...	ORPHA:97282
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Pustu...	OMIM:612852
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ...	OMIM:251100
Multiple Endocrine Neoplasia, Type I	Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Esophagitis...	OMIM:131100
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration...	OMIM:602088
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Sialadenitis, Abnormal pitui...	ORPHA:64744
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Dysbetalipoproteinemia	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	ORPHA:412
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Skin rash, Elevated ...	ORPHA:542323
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal...	OMIM:612541
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Raine Syndrome	Hypophosphatemia	OMIM:259775
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia	OMIM:257200
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva...	ORPHA:93111
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla...	OMIM:610199
Somatostatinoma	Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary thyroid carc...	ORPHA:97283
Caroli Syndrome	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia	OMIM:613987
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreatic ...	OMIM:617941
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, Hepatic fi...	OMIM:616263
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia	ORPHA:99828
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:620138
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hemolytic anemia	ORPHA:56425
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k...	OMIM:608189
Grfoma	Neoplasm of the pancreas, Pheochromocytoma, Ascites, Pituitary adenoma, Parathyroid adenoma, Subc...	ORPHA:97261
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Skin rash, Reticulocytosis, Hyperammonem...	ORPHA:99826
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody...	ORPHA:846
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo...	ORPHA:99901
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Hyperammonemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hyperlysinu...	OMIM:222700
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho...	OMIM:611881
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Hyperammonemia, Leuko...	ORPHA:470
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia	OMIM:200995
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:614576
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Chronic neutropenia, Hyperlipidemi...	ORPHA:79259
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Immunodeficiency With Hyper-Igm, Type 1	Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti...	OMIM:308230
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C...	ORPHA:1830
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Elevated circulating C-react...	ORPHA:49041
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos...	OMIM:259720
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Neutrop...	OMIM:613989
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Roifman Syndrome	Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Polycystic liver disease, Bile duct proliferation, Nephritis, Conjugated hyperbilirubin...	OMIM:208500
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Thrombocytopenia, Anemia, Aminoaciduria	OMIM:614946
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Gastrointestinal inflammation, Cirrhosis, Jaundice, Hep...	ORPHA:186
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Transaldolase Deficiency	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:606003
Mucopolysaccharidosis-Plus Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia,...	OMIM:617303
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Discoid lupus rash, Lymphadenitis, Recurrent bacter...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Discoid lupus rash, Lymphadenitis, Recurrent bacter...	OMIM:233710
Alveolar Echinococcosis	Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal spleen morpholog...	ORPHA:284
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Stomatitis, Hepatocellular carcinoma, Hyperlip...	OMIM:232240
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ...	ORPHA:449432
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Kikuchi-Fujimoto Disease	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abnormal lymph no...	ORPHA:50918
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Jaundice, Adrenal hyperplasia, Hyponatremia, Failure to thrive, Breast carcinoma, P...	ORPHA:90790
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Prolidase Deficiency	Thrombocytopenia, Anemia, Splenomegaly	OMIM:170100
Kaposiform Lymphangiomatosis	Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lymphatic vesse...	ORPHA:464329
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Legionnaires Disease	Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Splenomegaly, Lymphopenia	ORPHA:549
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
Autosomal Recessive Hypophosphatemic Rickets	Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen...	ORPHA:340
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Discoid lupus rash, Lymphadenitis, Recurrent bacter...	OMIM:233690
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Defi...	OMIM:227646
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Neuroblastoma	Thrombocytopenia, Increased circulating ferritin concentration, Anemia, Lymphadenopathy	ORPHA:635
Overlap Myositis	Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea...	ORPHA:206572
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Kasabach-Merritt Phenomenon	Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Thrombocytopenia, Micr...	ORPHA:2330
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia...	OMIM:613990
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Anemia, Hyperuricemia	OMIM:174000
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity	ORPHA:3322
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi...	OMIM:193300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concentration	OMIM:301056
Pancreatic And Cerebellar Agenesis	Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Hypoglycemia...	OMIM:609069
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen...	OMIM:127550
Sepsis In Premature Infants	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp...	ORPHA:90051
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,...	OMIM:267010
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany	ORPHA:93325
Shigellosis	Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Aminoaciduria, Conjugated hyperbilirubinemia	OMIM:208085
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad...	ORPHA:97289
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	OMIM:242900
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
Pauci-Immune Glomerulonephritis	Pancreatitis, Arteritis, Crescentic glomerulonephritis, Elevated circulating creatinine concentra...	ORPHA:93126
Immunodeficiency 40	Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia	OMIM:616433
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia	OMIM:618775
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Myelodysplasia	ORPHA:1318
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Bohring-Opitz Syndrome	Failure to thrive, Hyperechogenic pancreas, Supernumerary nipple, Facial hemangioma	OMIM:605039
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
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia	ORPHA:439232
Lig4 Syndrome	Acute leukemia, Lymphadenopathy, Leukocytosis, Pancytopenia	ORPHA:99812
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Pancreatic aplasia, Absent gallbladder, Small for gestational age, Reduced C-pept...	ORPHA:556955
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly...	ORPHA:83471
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany,...	ORPHA:79443
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, B-cell lymphoma, T lymphocytopenia, Splenomegaly, Reduced natural kil...	OMIM:619381
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancytopenia, Leu...	OMIM:615688
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut...	ORPHA:3261
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p...	OMIM:619573
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Cystathioninuria, Homocystinuria, Megaloblastic anem...	OMIM:277400
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Recurrent otitis media	OMIM:154230
Yellow Fever	Jaundice, Hyperbilirubinemia, Skin rash, Acute pancreatitis, Elevated circulating creatine kinase...	ORPHA:99829
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Distal Deletion 12Q	Annular pancreas, Maturity-onset diabetes of the young, Late onset atopic dermatitis, Biliary atr...	ORPHA:96149
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia	OMIM:224230
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Failure to thrive, Recurrent pneumonia,...	OMIM:219700
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,...	OMIM:227645
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Nephronophthisis 13	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts	OMIM:614377
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis	OMIM:615503
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia	OMIM:606593
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy	ORPHA:39812
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Cardiogenic Shock	Elevated circulating creatinine concentration, Hepatomegaly	ORPHA:97292
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:809
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary cirrhosis, Prolonged neonatal ja...	OMIM:619534
Immunodeficiency 22	Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia, Abscess	OMIM:615758
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of...	ORPHA:906
Farber Disease	Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Senior-Loken Syndrome 8	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts	OMIM:616307
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep...	ORPHA:3260
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Leukopenia...	ORPHA:319213
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Allergic rhinitis, Eczematoid dermatitis	OMIM:618162
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole...	ORPHA:79282
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomegaly, Impaired ...	OMIM:306400
Q Fever	Anemia, Lymphadenopathy, Granuloma, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	ORPHA:781
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Bone marr...	ORPHA:2785
Rothmund-Thomson Syndrome, Type 2	Basal cell carcinoma, Annular pancreas, Squamous cell carcinoma, Osteosarcoma, Cryptorchidism, Sm...	OMIM:268400
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Brucellosis	Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein con...	ORPHA:1304
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro...	OMIM:277900
Congenital Syphilis	Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:499009
Gaucher Disease, Perinatal Lethal	Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Cholelithiasis, Medulloblastoma, Cardiomegaly, Nephro...	ORPHA:97297
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbumi...	ORPHA:505248
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly, Reduced erythroc...	OMIM:263700
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Normochromic anemia, Elevated circulating C-reactive prote...	ORPHA:91500
Aicardi-Goutieres Syndrome 7	Anemia, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circ...	OMIM:615846
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Lymphadenopathy	ORPHA:139402
Meckel Syndrome	Accessory spleen, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver disease, Pa...	ORPHA:564
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut...	ORPHA:870
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:620654
Adams-Oliver Syndrome	Thrombocytopenia, Leukopenia	ORPHA:974
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia	OMIM:620423
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
Oligomeganephronia	Elevated circulating creatinine concentration, Small for gestational age	ORPHA:2260
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Waldenström Macroglobulinemia	Normocytic anemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos...	OMIM:620376
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Poems Syndrome	Lymphadenopathy, Polycythemia, Thrombocytosis, Splenomegaly	ORPHA:2905
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Panc...	ORPHA:892
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Jacobsen Syndrome	Failure to thrive, Annular pancreas, Cryptorchidism, Thrombocytopenia	OMIM:147791
Nephroblastoma	Lymphadenopathy	ORPHA:654
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia	OMIM:620072
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia, Brain...	ORPHA:544482
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis, Hamartoma of tongue	OMIM:263520
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
17Q12 Microdeletion Syndrome	Diabetes mellitus, Cryptorchidism, Elevated circulating hepatic transaminase concentration, Pancr...	ORPHA:261265
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia	ORPHA:163979
Schinzel-Giedion Syndrome	Annular pancreas, Streak ovary, Teratoma, Ependymoma, Recurrent pneumonia, Hepatoblastoma, Failur...	ORPHA:798
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:297
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Gaucher Disease	Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr...	ORPHA:355
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Immunodeficiency 31C	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphade...	OMIM:614162
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exocrine pancrea...	OMIM:618500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Thrombocytopenia, Anemia	OMIM:612199
Dyskeratosis Congenita	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Splenomegaly, Abnormality of neutrophils	ORPHA:1775
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
1P36 Deletion Syndrome	Annular pancreas, Neuroblastoma, Failure to thrive, Obesity, Abnormality of the spleen, Abnormali...	ORPHA:1606
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia	OMIM:620005
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Liver Disease, Severe Congenital	Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona...	OMIM:619991
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Gaucher Disease Type 3	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	ORPHA:77261
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Histiocytosis, Cervical lymphadenopathy	OMIM:602782
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Trisomy 8P	Neuroblastoma, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Sarcoidosis	Anemia, Lymphadenopathy, Abnormal lymph node morphology, Increased T cell count, Leukopenia, Thro...	ORPHA:797
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Jacobsen Syndrome	Annular pancreas, Eczematoid dermatitis, Bone marrow hypocellularity, Thrombocytopenia, Cryptorch...	ORPHA:2308
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia	ORPHA:235
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:32960
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Decreased proportion of CD4-positive hel...	ORPHA:289390
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Fryns Syndrome	Ectopic pancreatic tissue, Large for gestational age, Cryptorchidism, Polysplenia	OMIM:229850
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulat...	OMIM:256040
Stevens-Johnson Syndrome	Thrombocytopenia, Abnormality of neutrophils, Anemia	ORPHA:36426
Crimean-Congo Hemorrhagic Fever	Lymphadenopathy, Pancytopenia, Leukocytosis, Elevated circulating creatine kinase concentration, ...	ORPHA:99827
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Biliary atresia, Pancr...	ORPHA:2255
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Abnormality of the lymphatic system, Thrombocytopenia	ORPHA:487796
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:305000
22Q11.2 Deletion Syndrome	Hypocalcemia, Abnormality of the tonsils, Hypoplasia of the thymus, Thrombocytopenia, Splenomegal...	ORPHA:567
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Cryptorchidism	OMIM:616975
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia	OMIM:274000
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia	ORPHA:2072
Hardikar Syndrome	Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism	OMIM:301068
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Granuloma, Abnormality of the spleen, Eosinophilia,...	ORPHA:228123
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Ogden Syndrome	Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia	OMIM:300855
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Leptospirosis	Thrombocytopenia, Lymphadenopathy, Hyperproteinemia	ORPHA:509
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary lymphangiectasia, Annular pancreas, Right ventricular hypertrophy, Asplenia	OMIM:265380
Fanconi Anemia	Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Thrombocyto...	ORPHA:2331
Digeorge Syndrome	Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormal thymus m...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Iiw	Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia	OMIM:619525
Familial Mediterranean Fever	Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:342
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia	ORPHA:100078
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Igg4-Related Ophthalmic Disease	Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:449563
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia	ORPHA:51
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Decreased eosinophil count, Neoplasm of the thymus, Leukocytosis,...	ORPHA:99889
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Behçet Disease	Lymphadenopathy, Splenomegaly	ORPHA:117
Blau Syndrome	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
African Trypanosomiasis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:3385

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	Life Stage
Bone marrow - MPATH pathological process term hypoplasia	Trap1^em1(IMPC)Mbp	HOM	Early adult
Bone marrow - MPATH pathological process term hyperplasia	Trap1^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological process term hypoplasia	Trap1^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological process term hyperplasia	Trap1^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 Trap1.

No publications found that use IMPC mice or data for Trap1.

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MGI Allele	Allele Type	Produced
Trap1^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: Trap1 MGI:1915265

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Human diseases caused by Trap1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data