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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 creatinine level	Trap1^em1(IMPC)Mbp	HOM	Early adult	7.95×10^-05
decreased circulating phosphate level	Trap1^em1(IMPC)Mbp	HOM	Early adult	3.60×10^-05
thrombocytopenia	Trap1^em1(IMPC)Mbp	HOM	Early adult	1.31×10^-16
decreased monocyte cell number	Trap1^em1(IMPC)Mbp	HOM	Early adult	7.31×10^-05
abnormal eye morphology	Trap1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Trap1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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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Histopathology

Images

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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 (957 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	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypoglycemia, Elevated circulating creatinine conc...	OMIM:617872
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:603552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
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	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure to thrive	ORPHA:172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir...	ORPHA:275555
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop...	ORPHA:86893
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Hypergalactosemia, Failure to thrive	OMIM:230350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Dent Disease 2	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Perlman Syndrome	Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Capillary hemangiom...	ORPHA:2849
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi...	OMIM:300635
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Aminoaciduria, Hypophosphatemia	OMIM:618913
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy...	OMIM:617744
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia, Ab...	ORPHA:543
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia	OMIM:239200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ...	ORPHA:507
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy	ORPHA:100025
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm...	ORPHA:2126
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Galactose Mutarotase Deficiency	Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis...	OMIM:240500
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,...	OMIM:615160
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphade...	OMIM:619644
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Chromosome breakage, Lymphoproliferative disorder, Splenomegaly,...	OMIM:609981
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro...	OMIM:603909
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy	ORPHA:69077
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone mar...	ORPHA:391
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinin...	OMIM:608104
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:613812
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia	OMIM:618852
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,...	ORPHA:545
Fanconi Renotubular Syndrome 1	Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr...	ORPHA:79237
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Cystinosis	Aminoaciduria, Hypokalemia, Hypophosphatemia	ORPHA:213
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Sea-Blue Histiocytosis	Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti...	ORPHA:567544
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure...	OMIM:614817
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Hypophosphatemia	OMIM:616026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ...	OMIM:301078
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa...	OMIM:235555
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia	ORPHA:289916
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro...	OMIM:601859
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa...	OMIM:227810
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Myeloprol...	ORPHA:3226
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Hypophosphatemia	OMIM:613388
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:858
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade...	OMIM:615387
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa...	OMIM:616733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen...	OMIM:607594
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Tubulointerstitial nephritis,...	OMIM:251000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P...	ORPHA:436159
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow hypocellularit...	ORPHA:381
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi...	ORPHA:699
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin...	OMIM:260370
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy	ORPHA:100083
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:98850
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa...	ORPHA:210136
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad...	ORPHA:100026
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn...	ORPHA:47612
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri...	ORPHA:766
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocyt...	OMIM:603585
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia	OMIM:266150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentra...	OMIM:614376
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Thrombocytopenia, Hyperglycinuria, Hyperammonem...	OMIM:606054
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Bacterial Toxic-Shock Syndrome	Myositis, Sinusitis, Fasciitis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia...	OMIM:617591
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, T...	ORPHA:39041
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy	ORPHA:37748
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabet...	ORPHA:231222
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulating guanosine ...	OMIM:613179
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	ORPHA:540
Mccune-Albright Syndrome	Pancytopenia, Bone marrow hypocellularity, Hypophosphatemia	ORPHA:562
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomeg...	ORPHA:465508
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade...	ORPHA:331206
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine...	OMIM:615935
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hepatic steatosis	OMIM:201450
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ...	ORPHA:64744
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypophosphate...	OMIM:219800
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased...	ORPHA:3337
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Eczema, Pancreatic st...	OMIM:617052
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Lymphoma...	ORPHA:79086
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Infantile Nephropathic Cystinosis	Aminoaciduria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A...	OMIM:616100
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Hereditary Chronic Pancreatitis	Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,...	ORPHA:676
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Pyelon...	ORPHA:730
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ...	ORPHA:1451
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatob...	ORPHA:116
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Annular pancreas,...	ORPHA:2470
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Failure to ...	OMIM:276700
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Lymphaden...	OMIM:214500
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia...	OMIM:277380
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Thrombocytopenia, Aminoaciduria, Hypokalemia, Hypophosphatemia, Hype...	ORPHA:534
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent...	OMIM:615895
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:171
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con...	OMIM:612852
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hyperkalemia...	OMIM:602088
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Elevated circ...	ORPHA:247691
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Gout, Hyperuricemia, F...	OMIM:232200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251100
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis	OMIM:257200
Mirage Syndrome	Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Raine Syndrome	Hypophosphatemia	OMIM:259775
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Failure to thrive, Thrombo...	OMIM:617941
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Fructose Intolerance, Hereditary	Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepati...	OMIM:616263
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:169090
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Adrenocortical adenoma, Ascites, Subcutaneous lipoma, Elevat...	ORPHA:97283
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,...	ORPHA:3261
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin...	OMIM:620138
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Lysinuric Protein Intolerance	Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperammonemia, Anemia...	OMIM:222700
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614576
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope...	OMIM:308230
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Hypoglycemia, Myocarditis, Peritonitis, Le...	ORPHA:810
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hypercalcem...	ORPHA:199299
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Aminoaciduria, Anemia, Elevated hepatic iron concentration	OMIM:614946
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Neutropenia, Thro...	OMIM:617303
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H...	ORPHA:470
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Roifman Syndrome	Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ele...	ORPHA:49041
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hep...	ORPHA:79259
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Jaundice, Hype...	ORPHA:90790
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Roifman Syndrome	Lymphadenopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnor...	ORPHA:449432
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:50918
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia,...	OMIM:232240
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Kaposiform Lymphangiomatosis	Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, Abnormal lymphatic...	ORPHA:464329
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Cystathioninuria, Hyperhomocysti...	OMIM:277400
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa...	ORPHA:2330
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Chromosomal breakage i...	OMIM:227646
Legionnaires Disease	Hyponatremia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia	ORPHA:549
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen...	ORPHA:206572
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:301056
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy	ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia,...	OMIM:609069
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Aminoaciduria, Thrombocytopenia	OMIM:208085
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:618775
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany, Hyp...	ORPHA:79443
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Bohring-Opitz Syndrome	Facial hemangioma, Failure to thrive, Supernumerary nipple, Hyperechogenic pancreas	OMIM:605039
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Myelodysplasia, Abnormality of the pancreas	ORPHA:1318
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu...	ORPHA:556955
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Hyper...	ORPHA:97289
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Lig4 Syndrome	Leukocytosis, Lymphadenopathy, Pancytopenia, Acute leukemia	ORPHA:99812
Feingold Syndrome	Abnormality of the spleen, Annular pancreas	ORPHA:1305
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,...	ORPHA:93126
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,...	ORPHA:83471
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Distal Deletion 12Q	Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in ...	ORPHA:96149
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ...	ORPHA:99829
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis	OMIM:615503
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:614377
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Farber Disease	Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:333
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Mixed Connective Tissue Disease	Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia	ORPHA:809
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Graft Versus Host Disease	Lymphadenopathy, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils, Anemia, Leuko...	ORPHA:2785
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Senior-Loken Syndrome 8	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ...	OMIM:619534
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenome...	ORPHA:3260
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy	OMIM:260920
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymphopenia, Thr...	ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	OMIM:608013
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Hyperhomocystine...	ORPHA:79282
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczema	OMIM:618162
Q Fever	Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Granuloma, Thrombocytopenia	ORPHA:781
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Annular...	OMIM:268400
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:306400
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Medulloblastoma, Severe failure to thrive, Cholelithiasis, Annular ...	ORPHA:97297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Thrombocyto...	ORPHA:505248
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:79324
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis	ORPHA:168569
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Increased circulating ...	OMIM:615846
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan...	ORPHA:564
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Oligomeganephronia	Small for gestational age, Elevated circulating creatinine concentration	ORPHA:2260
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Elevated circulating uroporphyrin concentration, Thrombocytopenia	OMIM:263700
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Pancreati...	ORPHA:892
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma, Lymphopenia	ORPHA:2136
Nephroblastoma	Lymphadenopathy	ORPHA:654
Poems Syndrome	Thrombocytosis, Polycythemia, Lymphadenopathy	ORPHA:2905
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Failure to thrive, Thrombocytopenia	OMIM:147791
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc...	ORPHA:544482
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue	OMIM:263520
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:297
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Myeloid leukemia, Failure to thrive in infancy, Nephroblas...	ORPHA:798
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Diabetes mellitus, Pancreatic aplasia	ORPHA:261265
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul...	OMIM:618500
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Dyskeratosis Congenita	Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Anemia	ORPHA:1775
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome...	OMIM:614162
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis	OMIM:602782
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Obesity, Abnormality of the liver, Neuroblastoma, Annu...	ORPHA:1606
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Trisomy 8P	Cryptorchidism, Annular pancreas, Neuroblastoma, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:32960
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Jacobsen Syndrome	Eczema, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia	ORPHA:2308
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Lymphadenopathy, Anemia, L...	ORPHA:797
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Leukopenia, Normochromic anemia, Decreased proportion of CD4-...	ORPHA:289390
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Fryns Syndrome	Cryptorchidism, Ectopic pancreatic tissue, Polysplenia, Large for gestational age	OMIM:229850
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Bilia...	ORPHA:2255
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Abnormality of the tonsils, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Gaucher Disease	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Thromb...	ORPHA:355
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:2072
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cryptorchidism, Annular pancreas	OMIM:616975
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:305000
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Ogden Syndrome	Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia	OMIM:300855
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, G...	ORPHA:228123
Leptospirosis	Hyperproteinemia, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Right ventricular hypertrophy	OMIM:265380
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
Digeorge Syndrome	Splenomegaly, Anemia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Thrombo...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy	ORPHA:100078
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:449563
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Familial Mediterranean Fever	Splenomegaly, Lymphadenopathy	ORPHA:342
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Leukocytosis, Abnormal lymph node morphology, Decreased eosinophil count,...	ORPHA:99889
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:90340
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
African Trypanosomiasis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	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
Spleen - 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 hyperplasia	Trap1^em1(IMPC)Mbp	HOM	Early adult
Bone marrow - MPATH pathological process term hypoplasia	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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Human diseases caused by Trap1 mutations

Histopathology

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