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Gene: Etv6 MGI:109336

Gene Summary

Name:

ets variant 6

Synonyms:

translocation-ets-leukemia, Tel

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 serum albumin level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	4.34×10^-07
increased spleen weight	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	2.26×10^-06
increased kidney weight	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	1.26×10^-05
increased heart atrium size	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	0.00
enlarged heart	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	0.00
small liver	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	0.00
decreased circulating cholesterol level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	2.53×10^-05
decreased erythrocyte cell number	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	6.99×10^-05
abnormal liver morphology	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased bone mineral density	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	3.53×10^-06
increased large unstained cell number	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	1.35×10^-05
abnormal heart morphology	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased circulating calcium level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	5.67×10^-05
small liver	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	0.00
abnormal heart morphology	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	0.00
preweaning lethality, complete penetrance	Etv6^{em1(IMPC)Rbrc}	HOM	Early adult	0.00
abnormal liver morphology	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	0.00
thrombocytopenia	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	4.88×10^-05
decreased circulating HDL cholesterol level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	5.76×10^-08
increased blood uric acid level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	2.59×10^-05
enlarged heart	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased circulating total protein level	Etv6^{em1(IMPC)Rbrc}	HET	Early adult	7.22×10^-06
abnormal heart weight	Etv6^{em1(IMPC)Rbrc}	HET	Late adult	1.39×10^-05
abnormal heart shape	Etv6^{em1(IMPC)Rbrc}	HET	Late 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.

Gross Pathology and Tissue Collection

Images

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

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13 Images

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Human diseases caused by Etv6 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 Etv6 (2 diseases)
Human diseases predicted to be associated with Etv6 (1169 diseases)

The table below shows human diseases associated to Etv6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukemia, Acute Myeloid		Acute myeloid leukemia	OMIM:601626
Thrombocytopenia 5		Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216

The table below shows human diseases predicted to be associated to Etv6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin...	OMIM:153600
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia	OMIM:620400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia	OMIM:252270
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombocytopenia, Spl...	OMIM:133180
Ethanolaminosis	Cardiomegaly	OMIM:227150
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology, T lymphocytopenia	DECIPHER:16
Glioma Susceptibility 3	Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom...	OMIM:613029
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Reduced bone mineral density, Hypocalcemia, Cholestasis, Splenomegaly, Ab...	ORPHA:172
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu...	OMIM:619902
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis...	OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am...	OMIM:613752
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Burkitt Lymphoma	Hyperuricemia, Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Ab...	ORPHA:543
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat...	OMIM:612526
Lesch-Nyhan Syndrome	Anemia, Gout, Hyperuricemia	ORPHA:510
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti...	OMIM:232800
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Anemia, Splenomegaly	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina...	OMIM:603553
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Lymphoma, Leukopenia, Refractory anemia, Myelodysplasia	OMIM:616871
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoprot...	ORPHA:90362
Fanconi Anemia, Complementation Group G	Anemia, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Omenn Syndrome	Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Gout, Elevated circulating creatinine concentration, Neutropenia	OMIM:617056
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Immunodeficiency 27A	Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia...	OMIM:209950
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Immunodeficiency 115 With Autoinflammation	Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp...	OMIM:620632
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Leukemia, Verrucae, Decreased CD4:CD8 ratio, Myelodysplasia	OMIM:614038
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis	OMIM:226300
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat...	ORPHA:247585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Myeloid leukemia, Leukemia, Pancytopenia	OMIM:614743
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:620357
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly	ORPHA:99828
Leishmaniasis	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Abno...	ORPHA:507
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circu...	OMIM:607765
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets	OMIM:608404
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopeni...	OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Splenom...	OMIM:603552
Unclassified Myelodysplastic Syndrome	Multiple lineage myelodysplasia, Leukocytosis, Acute myeloid leukemia, Myelodysplasia	ORPHA:98827
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni...	OMIM:613845
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypo...	OMIM:259700
Storage Pool Platelet Disease	Acute leukemia, Myelodysplasia, Decreased mean platelet volume	OMIM:185050
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	ORPHA:26793
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Nephr...	ORPHA:85445
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia	OMIM:613092
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, ...	ORPHA:292
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato...	ORPHA:1667
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, C...	OMIM:615895
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Juvenile Paget Disease	Cranial hyperostosis, Hyperuricemia, Osteoporosis, Coarse metaphyseal trabecularization, Recurren...	ORPHA:2801
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ...	ORPHA:158057
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ventricular septal defect, S...	OMIM:617021
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep...	ORPHA:3319
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Reduced bone mineral densi...	ORPHA:848
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Hypercholesterolemia	ORPHA:77296
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Hyperuricemia	ORPHA:3222
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia, Osteopenia	OMIM:619073
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp...	OMIM:614172
Transaldolase Deficiency	Cirrhosis, Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concen...	ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	OMIM:614727
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Alg1-Cdg	Decreased liver function, Limitation of joint mobility, Cardiomyopathy, Abnormal heart morphology...	ORPHA:79327
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ...	ORPHA:210136
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Osteoarthrit...	ORPHA:53
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Thrombocytosis, Abnormal neutrop...	ORPHA:86841
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Cirrhosis, Hyperuricemia, Hepatic ...	OMIM:604367
Johanson-Blizzard Syndrome	Anemia, Dextrocardia, Hypoproteinemia, Exocrine pancreatic insufficiency, Abnormality of the panc...	ORPHA:2315
Primary Erythromelalgia	Leukemia	ORPHA:90026
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Hepatomegaly, Anemia	ORPHA:2123
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia	ORPHA:89937
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Tumor Predisposition Syndrome 2	Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa...	OMIM:619975
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas...	ORPHA:79140
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Ventricul...	OMIM:235255
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal...	OMIM:613101
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Decreased liver function, Cholestatic liver disease, Jaundice, Anemia, Hemo...	ORPHA:540
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hypocalcemic seizures, Hepatomegaly, Delayed epiphyseal ossification, Hypocalcemia, Card...	ORPHA:289157
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con...	OMIM:179800
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Hypoproteinemia, Elevated circulating hepatic transaminase concentration, Flexion contr...	OMIM:608093
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Hyperuricemia	OMIM:232600
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatosplenomegaly, Spl...	ORPHA:1655
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol...	OMIM:608776
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Gout, Hyperuricemia	OMIM:162000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy	OMIM:620152
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Arthritis, Thrombocytopenia, Recurrent cutaneous abscess formation, Hepatit...	ORPHA:47
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,...	OMIM:276300
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuri...	ORPHA:20
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto...	OMIM:259720
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refractory anemia w...	ORPHA:75564
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232200
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Leu...	ORPHA:67
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Immunodeficiency 52	Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph...	OMIM:617514
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Hyponatre...	ORPHA:199299
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Thrombocytosis	ORPHA:134
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort...	ORPHA:93324
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis	ORPHA:79319
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Thrombocyt...	ORPHA:27
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop...	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification	OMIM:618618
Neuroleptic Malignant Syndrome	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypocalcemi...	ORPHA:94093
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Elevated circulating he...	ORPHA:14
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Hypoch...	OMIM:266510
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot...	OMIM:617093
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Hypomagnesemia	OMIM:244460
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia, Decreased circulating carnitine concentration, Hyperuricemia, Elevated circ...	OMIM:246450
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, En...	ORPHA:79259
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Ca...	OMIM:269920
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Lymphade...	ORPHA:858
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Ankyl...	OMIM:239000
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Bacterial Toxic-Shock Syndrome	Myocarditis, Hypocalcemia, Arthritis, Increased circulating myelocyte count, Elevated circulating...	ORPHA:36234
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport...	OMIM:212050
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a...	OMIM:614009
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome...	ORPHA:186
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Cirrhosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hepatic failure	OMIM:602579
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ...	OMIM:616829
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Avian Influenza	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:454836
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst, Anemia	ORPHA:2668
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopa...	OMIM:617303
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Acute myeloid leukemia	OMIM:605724
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pancreatitis...	OMIM:619487
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, C...	OMIM:212065
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Cardiom...	OMIM:613313
Nephronophthisis 2	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis, ...	OMIM:602088
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,...	OMIM:600081
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia	OMIM:616730
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Chronic Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Diaphyseal sclerosis, Hypocalcemia, Increased bone mineral density, Hypoca...	ORPHA:94089
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma...	ORPHA:85443
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Impaired epinephrine-induced platelet aggregation, Giant platelets, ...	OMIM:155100
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia...	ORPHA:486
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Neoplasm of the liver, Anemia	ORPHA:69077
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hyperalanin...	ORPHA:348
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia	OMIM:300323
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli...	OMIM:232240
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperph...	ORPHA:36913
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp...	ORPHA:93160
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hypocholest...	ORPHA:71
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Wilson Disease	Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, J...	OMIM:277900
Multiple Myeloma	Osteopenia, Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Pathologic fracture, Elevated ...	ORPHA:29073
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia	ORPHA:469
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Trichohepatoenteric Syndrome 1	Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ...	OMIM:222470
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells	OMIM:613493
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Hyp...	OMIM:616026
Combined Deficiency Of Factor V And Factor Viii	Joint hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia	ORPHA:261222
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Xanthinuria, Type Ii	Hypouricemia, Hyperxanthinemia, Increased circulating hypoxanthine concentration	OMIM:603592
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Elbow flexion contracture, Hypercalcemia, Splenomegaly	OMIM:618440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysi...	ORPHA:77259
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c...	OMIM:620481
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, De...	OMIM:212140
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:613885
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618838
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ...	OMIM:264700
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Elevated circulating hepatic transaminase concentration, Iron deficiency an...	OMIM:212750
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Immunodeficiency 62	B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec...	OMIM:618459
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Immunodeficiency 48	Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple...	OMIM:269840
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:173420
Aicardi-Goutieres Syndrome 3	Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Hyperuricemia	ORPHA:79233
Propionic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Cardiomyopathy, Osteoporosis, Hyperammonemia, T...	OMIM:606054
Myelofibrosis	Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis	OMIM:254450
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Colchicine Poisoning	Myocarditis, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphate...	ORPHA:31824
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokal...	OMIM:227810
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Rickets, Cirrhosis, Reduced bone mineral density, Anemia, Elevated circ...	OMIM:613658
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Cog4-Cdg	Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen...	ORPHA:263501
Phoar2-Enteropathy Syndrome	Hyperostosis, Hypoalbuminemia, Periostosis	OMIM:614441
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Lesch-Nyhan Syndrome	Megaloblastic anemia, Podagra, Hyperuricemia	OMIM:300322
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Asplenia	OMIM:602361
Glanzmann Thrombasthenia 1	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag...	OMIM:273800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Anemia, Gout, Hyperuricemia	OMIM:174000
Tangier Disease	Hypertriglyceridemia, Anemia, Coronary artery stenosis, Thrombocytopenia, Hepatosplenomegaly, Lef...	ORPHA:31150
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C...	ORPHA:91547
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Osteoporosis, Hypocalcemic tetany	OMIM:612462
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout, Hyperuricemia	ORPHA:411543
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia	OMIM:175500
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Tafro Syndrome	Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Leuko...	ORPHA:457077
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro...	OMIM:618886
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Meningioma, Leukemia	OMIM:602501
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Impaired coll...	OMIM:619374
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Thickened corte...	OMIM:127000
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Myelodysplasia	OMIM:619151
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Hypophosphatasia	Hypercalcemia, Craniosynostosis, Anemia, Recurrent fractures	ORPHA:436
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Mu-Heavy Chain Disease	Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Anemia, Pancytopenia, Myelodysplasia, Myeloid leukemia	OMIM:614742
Medullary cystic kidney disease 2	Gout, Hyperuricemia	OMIM:603860
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met...	OMIM:618156
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti...	OMIM:615513
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Elevated circulating hepatic transaminase concen...	OMIM:300280
Potocki-Lupski Syndrome	Atrial septal defect, Hypocholesterolemia, Patent foramen ovale	OMIM:610883
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Alg12-Cdg	Abnormal bone ossification, Muscular ventricular septal defect, Elevated circulating hepatic tran...	ORPHA:79324
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphope...	ORPHA:90363
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy	ORPHA:295
Cystinuria	Hyperuricemia	ORPHA:214
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Hepato...	OMIM:251110
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:618810
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Elevated circulating hepatic...	OMIM:276700
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto...	OMIM:231200
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia, Hypoalbum...	OMIM:618183
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleeding time, Neutropenia	ORPHA:238459
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Babesiosis	Jaundice, Hepatomegaly, Limitation of joint mobility, Thrombocytopenia, Leukopenia, Splenomegaly,...	ORPHA:108
Addison Disease	Hyperkalemia, Normocytic anemia, Generalized bone demineralization, Hyperuricemia, Increased circ...	ORPHA:85138
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Genetic Recurrent Myoglobinuria	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyperphospha...	ORPHA:99845
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Cardiomyopathy, Chronic hepatic failure, Cholestasis, Left ventricular hypertrophy,...	ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Glanzmann Thrombasthenia 2	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g...	OMIM:619267
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Cardiomyopathy, Hyperammonemia, Thrombocytope...	OMIM:251000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul...	OMIM:201475
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Limited pronation/supination of forearm, Thrombocytopenia, Hepatosplenomegaly, Radioulnar...	OMIM:616738
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra...	OMIM:608836
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	ORPHA:99901
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia...	ORPHA:667
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ...	OMIM:613280
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Elevated...	OMIM:619644
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Joint stiffness, Abno...	ORPHA:505248
Double Outlet Right Ventricle	Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ven...	ORPHA:3426
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis	OMIM:241410
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ...	ORPHA:89842
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Arthritis, Hepatocellular...	ORPHA:465508
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hematological neopl...	ORPHA:98850
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Cowden Syndrome 7	Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Heman...	OMIM:616858
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, Thrombocytopen...	ORPHA:163979
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega...	OMIM:300972
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia	ORPHA:86843
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Overlap Myositis	Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:206572
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells	OMIM:619126
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D...	OMIM:619846
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrati...	OMIM:617591
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia...	OMIM:314390
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Dila...	ORPHA:73224
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Cartilage-Hair Hypoplasia	Limited elbow extension, Abnormal bone ossification, Hepatomegaly, Anemia, Hypocalcemia, Abnormal...	ORPHA:175
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome...	ORPHA:231222
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost...	OMIM:618476
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Enlarged polycy...	ORPHA:2298
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo...	OMIM:608978
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Penoscrotal...	OMIM:618280
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, S...	ORPHA:381
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Hypertro...	OMIM:618775
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia, Pathologic fracture, Fibrous dysplasia of the bones, Increased su...	ORPHA:352540
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma	OMIM:253250
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestin...	ORPHA:99867
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu...	OMIM:259710
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly, Recurrent fractures	OMIM:239200
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Caroli Syndrome	Cirrhosis, Liver abscess, Elevated circulating hepatic transaminase concentration, Jaundice, Intr...	ORPHA:480520
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Left atrial enlargement, Cirrhosis...	ORPHA:57777
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Kawasaki Disease	Myocarditis, Jaundice, Elevated circulating C-reactive protein concentration, Abnormal heart valv...	ORPHA:2331
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine ki...	ORPHA:2785
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Rheumatoid art...	ORPHA:100026
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt...	OMIM:274150
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Marburg Hemorrhagic Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypokalemia, Neu...	ORPHA:99826
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Craniosynostosis, Hypercalcemia	OMIM:614732
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Maternal Uniparental Disomy Of Chromosome 4	Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester...	ORPHA:96180
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ...	ORPHA:99818
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal...	ORPHA:905
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc...	OMIM:614857
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen...	OMIM:214900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma	ORPHA:281090
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99879
Primary Myelofibrosis	Hepatomegaly, Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Portal hypertensi...	ORPHA:824
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Myocarditis, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopen...	ORPHA:544482
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Hepatomegaly, Dextrocardia, Pancytopenia, Hyperhomocystinemia, Me...	OMIM:277380
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, C...	OMIM:614576
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects	OMIM:615508
Preeclampsia	Elevated circulating hepatic transaminase concentration, Elevated circulating creatinine concentr...	ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hyperuricemia, Pancreatic hypoplasia, Bi...	OMIM:137920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Blue Diaper Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, ...	OMIM:150550
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly	OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures, Hy...	ORPHA:2769
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Noonan Syndrome 12	Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia	OMIM:618624
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Hypophosphatasia, Infantile	Anemia, Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossificat...	OMIM:241500
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia, Abnormal erythrocyte enzyme concentration or activity	ORPHA:1187
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Cranios...	ORPHA:251004
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Infantile Myofibromatosis	Neoplasm of the pancreas, Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysis	ORPHA:2591
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis	ORPHA:2323
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre...	OMIM:618048
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Myelofibrosis, Thrombocytopenia, Leukopenia, Hyperostosis cranial...	OMIM:231095
Hypomagnesemia 3, Renal	Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ...	OMIM:248250
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:603909
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Immunodeficiency 82 With Systemic Inflammation	Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Arthritis, Decr...	OMIM:619381
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyp...	OMIM:251100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells	OMIM:618982
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia	OMIM:278300
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial septal def...	OMIM:249270
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Os...	OMIM:222700
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Patent foramen ovale	OMIM:607143
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia	ORPHA:90033
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells	OMIM:613500
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hepatic failure	ORPHA:49566
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ...	OMIM:617713
Immunodeficiency 102	Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor...	OMIM:301082
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Felty Syndrome	Hepatomegaly, Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Sy...	ORPHA:47612
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet...	OMIM:614350
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Flexion co...	ORPHA:85212
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Hereditary Xanthinuria	Hyperxanthinemia, Rheumatoid arthritis, Hypouricemia, Gout	ORPHA:3467
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Prolonged bleeding ...	ORPHA:182050
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Myelofibrosis, Ag...	OMIM:301078
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertaurinemia, Hypocystinemia, Hypouricemia	OMIM:615501
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Splenome...	OMIM:619375
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Camptodactyly, Coronal craniosynostosis, Pericardial effusion, Hypo...	OMIM:235510
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Hypocalcemia, Increased bone min...	ORPHA:79443
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Atr...	OMIM:619573
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Hepatomegaly	ORPHA:158029
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia	ORPHA:48104
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Ectopic ossifica...	ORPHA:79444
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia	ORPHA:428
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Elevated circulating hepatic transaminase concentration,...	ORPHA:284426
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hyperammonemia, Elevated ...	OMIM:620454
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Juvenile Polyposis Of Infancy	Anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Refractory anemia	ORPHA:79076
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Gaucher Disease	Decreased HDL cholesterol concentration, Joint stiffness, Leukopenia, Splenomegaly, Pathologic fr...	ORPHA:355
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Hyperuricemia	OMIM:300661
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevat...	OMIM:610377
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis	ORPHA:90060
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Hepatosplenomegaly, Splenomegaly, Increased proportion autoreactive ...	OMIM:618534
Atelis Syndrome 1	Anemia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal defect	OMIM:620184
Systemic Lupus Erythematosus	Arthritis, Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentrati...	OMIM:263700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Thrombocytopenia	ORPHA:49827
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis,...	OMIM:620376
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Cranioectodermal Dysplasia 1	Hepatomegaly, Joint hypermobility, Hypocalcemia, Osteoporosis, Bicuspid aortic valve, Hepatic cys...	OMIM:218330
Sengers Syndrome	Osteopenia, Thrombocytopenia, Hypertrophic cardiomyopathy	OMIM:212350
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Osteoporosis, Subcutaneous ossification, Hypocalcemic tetany	OMIM:103580
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Increased B c...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ...	OMIM:620430
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Hennekam Syndrome	Hypocalcemia, Pericardial effusion, Camptodactyly of finger, Splenomegaly, Lymphopenia, Craniosyn...	ORPHA:2136
Immunodeficiency, Common Variable, 11	Abnormal T cell count, Decreased proportion of class-switched memory B cells	OMIM:615767
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Elevated circulating hepatic tra...	ORPHA:264580
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Decreased liver function, Hypocalcemia, Elevated circulating creatine kinase concen...	ORPHA:466650
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin...	OMIM:260400
Fucosidosis	Cardiomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Castleman Disease	Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Restrictive cardiomyopat...	ORPHA:160
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic ...	OMIM:557000
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	OMIM:301056
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, Sclerosis of skull base, ...	OMIM:602080
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Pathol...	OMIM:230800
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Igg4-Related Thyroid Disease	Hypocalcemia, Pancreatic fibrosis, Retroperitoneal fibrosis, Sclerosing cholangitis	ORPHA:64744
Isolated Agammaglobulinemia	Anemia, Arthritis, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess ...	ORPHA:229717
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Abnormal heart morphology, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Leptospirosis	Jaundice, Hepatomegaly, Pericarditis, Thrombocytopenia, Elevated serum transaminases during infec...	ORPHA:509
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ...	ORPHA:464321
Craniofacioskeletal Syndrome	Hypocalcemia, Atrial septal defect, Ventricular septal defect, Absent gallbladder	OMIM:300712
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Immunodeficiency 68	B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia, Leukopenia, Hepatic fibrosis, Dila...	OMIM:613989
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia	OMIM:620365
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, J...	ORPHA:309854
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hem...	OMIM:304790
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp...	OMIM:617994
Specific Granule Deficiency 2	Osteopenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia	OMIM:617475
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
Vexas Syndrome	Arthritis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic an...	OMIM:301054
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Splenomegaly, Pancytopenia	OMIM:620282
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Shigellosis	Myocarditis, Arthritis, Splenic abscess, Cholestasis, Leukocytosis, Hyponatremia, Thrombocytopeni...	ORPHA:810
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration	OMIM:610965
Cockayne Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Congenital ...	ORPHA:191
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
22Q11.2 Deletion Syndrome	Tricuspid atresia, Abnormal aortic valve morphology, Cholelithiasis, Hypocalcemia, Arthritis, Tru...	ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypercalcemia, Hypophosphatemia, Osteomalacia	OMIM:600740
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Lig4 Syndrome	Acute leukemia, Leukocytosis, Lymphoma, Pancytopenia	ORPHA:99812
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Decreased skull ossification, Cortical t...	ORPHA:93325
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:3240
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Hypert...	OMIM:611126
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Per...	ORPHA:358
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Liver abscess, Elevated circulating hepatic transaminase ...	ORPHA:69663
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart valve morpholo...	ORPHA:77261
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Portal vein thrombosis, Spleno...	OMIM:616028
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Abnormal left ventricular outflow tract morp...	ORPHA:79328
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat...	OMIM:614946
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation, Hypoproteinemia, Extrahepat...	ORPHA:2929
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia, Craniosynostosis	ORPHA:79396
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Ataxia-Telangiectasia	Leukemia, Hypoplasia of the thymus, Lymphoma, T lymphocytopenia, Hodgkin lymphoma, Acute lymphobl...	OMIM:208900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Reduced natural killer cell count, Perianal abscess, T lymphocytopenia	OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged hepatitis, Coombs...	ORPHA:83471
Alg8-Cdg	Anemia, Elevated circulating hepatic transaminase concentration, Camptodactyly, Hyponatremia, Thr...	ORPHA:79325
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille...	ORPHA:79124
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Hepatomegaly, Abnormal trabecular b...	OMIM:612301
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce...	OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Mirage Syndrome	Hyperkalemia, Anemia, Radial club hand, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leuko...	OMIM:617053
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Hemato...	ORPHA:3243
Velocardiofacial Syndrome	Hypocalcemia, Ventricular septal defect, Tetralogy of Fallot	OMIM:192430
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Septic arthritis, Thrombocytosis,...	ORPHA:1304
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion contracture, Pathologi...	OMIM:156400
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, T lymphocytopenia	ORPHA:277
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hepatomegaly, Epiphyseal stippling, H...	OMIM:270400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Leukemia	OMIM:619951
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:277480
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Hypokalemia, Normochromic anemi...	ORPHA:97282
Monosomy 13Q34	Pulmonic stenosis, Hepatic steatosis, Common atrium, Hypercalcemia	ORPHA:96168
Porphyria Due To Ala Dehydratase Deficiency	Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity	ORPHA:100924
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl...	OMIM:602782
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Camptodactyly	OMIM:617729
Prolidase Deficiency	Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly, Elevated circu...	OMIM:170100
Q Fever	Myocarditis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Abnor...	ORPHA:781
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Myelodysplasia, Pancytopenia	OMIM:606593
Somatostatinoma	Steatorrhea, Neoplasm of the pancreas, Hypochromic microcytic anemia, Intrahepatic cholestasis, G...	ORPHA:97283
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology	ORPHA:2237
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin bony cortex, Hypercal...	ORPHA:249
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Waldenström Macroglobulinemia	Normocytic anemia, Lymphoma, Splenomegaly, Monoclonal immunoglobulin M proteinemia, Abnormality o...	ORPHA:33226
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Pancreatitis, Hypercalcemia	OMIM:145981
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypercalcemia	OMIM:145980
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Congenital Erythropoietic Porphyria	Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Osteop...	ORPHA:79277
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Hepatic necr...	OMIM:127550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ...	OMIM:618986
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:308552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Blue Rubber Bleb Nevus	Abnormality of the liver, Pathologic fracture, Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Camptodactyly, Joint contracture of the hand	OMIM:251300
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Thrombocytopenia, Pancytopenia	OMIM:613987
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy	ORPHA:391428
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Osteomalacia, Renal hypophos...	ORPHA:405
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proport...	ORPHA:1830
Bloom Syndrome	Esophageal neoplasm, Acute myeloid leukemia, Stomach cancer, Abnormal proportion of CD8-positive ...	ORPHA:125
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Myeloid leukemia	ORPHA:404443
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Joint hypermobility, Hepatic steatosis, Transposition of the great arteries, Muscula...	OMIM:619503
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ...	OMIM:612541
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Immunodeficiency 70	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells	OMIM:618969
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Camptodactyly	OMIM:619980
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Chronic myelogenous leukemia, Pheochromo...	ORPHA:636
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Hypertrop...	OMIM:613673
Digeorge Syndrome	Anemia, Cholelithiasis, Hypocalcemia, Truncus arteriosus, Hypoplasia of the thymus, Thrombocytope...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating hepatic transaminase concentration, Elevated circul...	ORPHA:319213
Glucagonoma	Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemi...	ORPHA:97280
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Hepatomegaly, Hypocalcemi...	OMIM:243800
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat...	ORPHA:447
Tularemia	Anemia, Leukocytosis, Thrombocytopenia, Cutaneous abscess, Brain abscess	ORPHA:3392
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Histiocytosis, Hepatosplenomegaly, M...	ORPHA:168569
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Thrombocytopenia 6	Osteoporosis, Thrombocytopenia, Myelofibrosis	OMIM:616937
Von Willebrand Disease	Abnormal platelet function, Abnormal mitral valve morphology, Joint hemorrhage, Thrombocytopenia,...	ORPHA:903
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Thrombocytopenia, Left ventricular hypertrophy, Cardiomegaly, A...	ORPHA:79330
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Thrombocytopenia, Secundum...	OMIM:617397
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly, ...	OMIM:608013
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Limited knee flexion/extension, Elevated circulating creatine kinase conc...	ORPHA:268
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Hypocholesterolemia, Ventricular septal defect	OMIM:244450
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Thrombocytopenia, Splenomegal...	OMIM:308230
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Fanconi Anemia, Complementation Group N	Aplastic anemia, Acute myeloid leukemia, Neuroblastoma, Medulloblastoma, Nephroblastoma	OMIM:610832
Polycythemia Vera	Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis, Myelodysplasia	ORPHA:729
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Leukopenia, Splenomegaly, Impaired neutrophil b...	OMIM:214500
Adams-Oliver Syndrome	Cirrhosis, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital hepatic fibrosis, Tetral...	ORPHA:974
Vitamin D-Dependent Rickets, Type 2A	Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone tr...	OMIM:277440
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, Thrombocytopenia, Exocrine...	OMIM:617941
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Lymphopenia, Hypoplasia of the thymus, Ly...	ORPHA:906
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Restrictive cardiomyopathy, Abnormal heart morphology, Hypercal...	ORPHA:369837
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Lym...	ORPHA:221016
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Arthritis, Hypertrophic cardiomyopathy, Hepatitis, Pericardia...	OMIM:615846
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel...	ORPHA:221008
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de...	OMIM:617052
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227645
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97278
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia, Hepatic fibrosis	OMIM:224230
Rothmund-Thomson Syndrome	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel...	ORPHA:2909
Pediatric-Onset Graves Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropenia in p...	ORPHA:525731
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Jaundice, Macrovesicular hepat...	OMIM:300855
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Partial atrioventricular canal defect, Hypernatremia, Thrombocytopenia,...	OMIM:620423
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Lymphoma, Glioma,...	ORPHA:647
Quebec Platelet Disorder	Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein...	OMIM:301074
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia	OMIM:223370
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Cyclic Neutropenia	Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Peritonitis, Decreased eosinophil...	ORPHA:2686
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia	ORPHA:870
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Prolonged ...	OMIM:225750
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Leukopenia	ORPHA:83313
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating...	ORPHA:79282
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia	OMIM:252160
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Farber Disease	Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Intrahepatic cholesta...	ORPHA:333
Mosaic Variegated Aneuploidy Syndrome 1	Embryonal rhabdomyosarcoma, Nephroblastoma, Leukemia	OMIM:257300
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Neuroblastoma	Pathologic fracture, Thrombocytopenia, Increased circulating ferritin concentration, Anemia	ORPHA:635
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia	OMIM:252150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Congenital Factor Xiii Deficiency	Myeloid leukemia	ORPHA:331
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Limited prona...	OMIM:605432
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Bloom Syndrome	Lymphoma, Leukemia, Elevated hemoglobin A1c, Squamous cell carcinoma	OMIM:210900
Tick-Borne Encephalitis	Stiff neck, Elevated circulating hepatic transaminase concentration, Elevated circulating C-react...	ORPHA:297
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Catastrophic Antiphospholipid Syndrome	Myocarditis, Abnormal heart valve morphology, Arthritis, Thrombocytopenia, Coombs-positive hemoly...	ORPHA:464343
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia	OMIM:222300
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Eleva...	ORPHA:50918
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Leukopenia, T...	OMIM:613990
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Idiopathic Hypereosinophilic Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pa...	ORPHA:3260
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hepatomegaly, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia...	OMIM:277400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Elevated circulating hepatic transaminase concentration, Accessory ...	OMIM:620005
Fibular Hemimelia	Abnormal bone ossification, Limited knee flexion/extension, Limitation of joint mobility, Decreas...	ORPHA:93323
Ebola Hemorrhagic Fever	Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis	ORPHA:319218
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97261
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal...	ORPHA:508
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neut...	OMIM:242900
Pediatric Systemic Lupus Erythematosus	Arthritis, Lymphopenia, Pericardial effusion, Thrombocytopenia, Leukopenia, Microangiopathic hemo...	ORPHA:93552
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Leukopenia, Thrombocy...	ORPHA:508542
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells	OMIM:617765
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre...	OMIM:601678
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia, Left ventricular hypertrophy	OMIM:611209
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227646
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect	ORPHA:476126
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Splenomegaly	ORPHA:397596
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Ivic Syndrome	Limited elbow movement, Limited interphalangeal movement, Leukocytosis, Thrombocytopenia, Tetralo...	OMIM:147750
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos...	ORPHA:911
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Immunodeficiency 22	Anemia, Pericarditis, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess	OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple myeloma, Chronic lymphatic leu...	ORPHA:91139
Dyskeratosis Congenita, Autosomal Recessive 8	B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Tracheomalacia, Ventricular hypertrophy, Pulmonic stenosis, Thrombocytopeni...	OMIM:620654
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Yellow Fever	Jaundice, Hyperbilirubinemia, Acute pancreatitis, Elevated circulating creatine kinase concentrat...	ORPHA:99829
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Bone cyst, ...	ORPHA:797
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Acute lymphoblastic leu...	ORPHA:1052
Congenital Syphilis	Myocarditis, Periostitis, Anemia, Pancreatitis, Synovitis, Prolonged neonatal jaundice, Thrombocy...	ORPHA:499009
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Flexion contracture, Hepatic steatosis, Neutropenia	OMIM:616271
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Atrial septal defect, Ventricul...	OMIM:610733
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Transposition of the great arteries, Hepatomegaly, Hypospadias, Cardiomyopathy, ...	OMIM:312870
Zika Virus Disease	Arthritis, Thrombocytopenia	ORPHA:448237
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Squamous cell carcinoma, Pancytopenia, Carcinoma, Oropharyngeal s...	OMIM:305000
Charge Syndrome	Hypocalcemia, Lymphopenia, Pulmonic stenosis, Secundum atrial septal defect, Tetralogy of Fallot,...	OMIM:214800
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology...	OMIM:615873
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati...	OMIM:619525
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cortisol level	OMIM:131100
Ivic Syndrome	Synostosis of carpal bones, Leukocytosis, Joint stiffness, Thrombocytopenia, Radioulnar synostosis	ORPHA:2307
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Joint hypermobility, Patent foramen ovale, Elbow flexion contr...	OMIM:245600
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Joint hypermobility, Ventricular septal defect	OMIM:620330
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Osteoporosis, Coarse metaphyseal trabe...	ORPHA:1775
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Episodic ammonia int...	OMIM:311250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept...	OMIM:602450
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Osteoporosis, Hypercalcemia, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:99880
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3...	OMIM:612394
Dubowitz Syndrome	Anemia, Lymphoma, Acute lymphoblastic leukemia, Thrombocytopenia, Neoplasm, Abnormality of neutro...	ORPHA:235
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Decreased ...	OMIM:606367
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop...	ORPHA:3261
Parathyroid Carcinoma	Pancreatitis, Osteoporosis, Hypercalcemia, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:143
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Thrombocytopenia, Abnormal platelet ...	ORPHA:46059
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Noonan Syndrome 2	Acute lymphoblastic leukemia, Leukemia	OMIM:605275
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Acute hepati...	ORPHA:139402
Crimean-Congo Hemorrhagic Fever	Myocarditis, Jaundice, Hepatomegaly, Stiff neck, Pancytopenia, Acute pancreatitis, Leukocytosis, ...	ORPHA:99827
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thrombocytopenia, ...	ORPHA:36426
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemol...	ORPHA:2330
Takenouchi-Kosaki Syndrome	Camptodactyly, Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Abnormal card...	OMIM:616737
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Pmm2-Cdg	Osteopenia, Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase conce...	ORPHA:79318
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	ORPHA:365
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thrombocytopenia, ...	ORPHA:537
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis, Flexion contracture, Limb j...	OMIM:301072
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis	OMIM:616084
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Thrombocytopenia	OMIM:300514
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Increased T cell count	ORPHA:98813
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Elevated circulating hepatic...	ORPHA:340
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Renal cyst, Hepatomegaly	ORPHA:137675
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Diamond-Blackfan Anemia 21	Thrombocytopenia, Secundum atrial septal defect, Anemia, Erythroid hypoplasia	OMIM:620072
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:301081
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Lymphoma, Leukemia	ORPHA:2526
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Fanconi Anemia, Complementation Group F	Atrial septal defect, Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Pheochromocytoma	Hypercalcemia	OMIM:171300
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi...	ORPHA:97297
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis, Increased circulating cortisol level	ORPHA:913
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Anemia, Osteoporosis, Thrombocytopenia, Pathologic fracture, Increased susceptibility...	OMIM:612199
Cryptococcosis	Lymphoid leukemia, Neoplasm	ORPHA:1546
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia, Camptodactyly	ORPHA:261323
Recon Progeroid Syndrome	Joint hypermobility, Thrombocytopenia, Anemia	OMIM:620370
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Rubinstein-Taybi Syndrome 1	Hepatic hemangioma, Accessory spleen, Capillary hemangioma, Papillary cystadenoma of the epididym...	OMIM:180849
Multiple Endocrine Neoplasia Type 4	Abnormality of pancreas physiology, Insulinoma, Hypercalcemia, Extrahepatic cholestasis, Increase...	ORPHA:276152
Williams Syndrome	Abnormal circulating lipid concentration, Pulmonic stenosis, Joint stiffness, Mitral valve prolap...	ORPHA:904
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Schinzel-Giedion Syndrome	Teratoma, Ependymoma, Hepatoblastoma, Nephroblastoma, Sacrococcygeal teratoma, Facial hemangioma,...	ORPHA:798
Hellp Syndrome	Elevated circulating hepatic transaminase concentration, Decreased mean corpuscular hemoglobin co...	ORPHA:244242
Acute Liver Failure	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H...	ORPHA:90062
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Arthritis, Osteomalacia, Joint stiffness, Hyponatremia, Thrombocytopenia, Hy...	ORPHA:534
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Fused cervical vertebrae, Leukocytosis, Thrombocytopenia, ...	OMIM:274000
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm...	OMIM:313900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly	OMIM:613563
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly	OMIM:620371
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Thrombocytopenia	OMIM:619005
Fanconi Anemia	Abnormal aortic valve morphology, Anemia, Reduced bone mineral density, Hypertrophic cardiomyopat...	ORPHA:84
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia, Flexion contracture, Atrial septal defect, Ventricular septal...	OMIM:147791
Chime Syndrome	Acute leukemia	ORPHA:3474
Multiple Endocrine Neoplasia Type 2	Joint hypermobility, Neoplasm of the liver, Hypercalcemia	ORPHA:653
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Aortic valve calcification, Mitral ...	ORPHA:2072
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia	OMIM:280000
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Neoplasm of the pancreas, Reduced bone mineral density, In...	ORPHA:652
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Thrombocytopenia, Hepa...	ORPHA:319251
Atelis Syndrome 2	Pulmonic stenosis, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis	OMIM:620185
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Neoplasm	ORPHA:70591
Primary Sjögren Syndrome	Normocytic anemia, Normochromic anemia, Chronic active hepatitis, Arthritis, Biliary cirrhosis, C...	ORPHA:289390
Poland Syndrome	Retinal hamartoma, Neoplasm of the breast, Acute leukemia	ORPHA:2911
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Camptodactyly, Increased mean platelet volume, Abnormal ...	ORPHA:487796
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr...	ORPHA:331235
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Osteopenia, Portal hypertension, Coronary artery stenosis, ...	OMIM:194050
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Hepatic steatosis, Leukocytosis, Azotemia	OMIM:619321
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased hemoglobin concentration, Hepatomegaly, Thrombocytop...	OMIM:619004
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormality of the spleen	ORPHA:648
Osteogenesis Imperfecta	Abnormal endocardium morphology, Osteopenia, Reduced bone mineral density, Abnormal cortical bone...	ORPHA:666
Proteus Syndrome	Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Neoplasm of the thymus, Lym...	ORPHA:744
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Sotos Syndrome	Ankle flexion contracture, Bilateral camptodactyly, Prolonged neonatal jaundice, Acute lymphoblas...	ORPHA:821
Cornelia De Lange Syndrome 1	Limited elbow extension, Ventricular septal defect, Thrombocytopenia, Elbow flexion contracture	OMIM:122470
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Pericardial effusion, Hyperphosphat...	ORPHA:51608
Jacobsen Syndrome	Annular pancreas, Aortic valve stenosis, Thrombocytopenia, Ventricular septal defect, Hypoplastic...	ORPHA:2308
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Roberts Syndrome	Knee flexion contracture, Synostosis of carpal bones, Wrist flexion contracture, Thrombocytopenia...	ORPHA:3103
Agammaglobulinemia, X-Linked	B lymphocytopenia, Neutropenia, Anemia, T lymphocytopenia	OMIM:300755
Yunis-Varon Syndrome	Hypospadias, Cardiomyopathy, Renal artery stenosis, Renovascular hypertension, Tetralogy of Fallo...	ORPHA:3472
Noonan Syndrome 1	Neurofibrosarcoma, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Leukocyte Adhesion Deficiency	Perianal abscess, Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Pol...	ORPHA:2968
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Systemic Lupus Erythematosus	Arthritis, Thrombocytopenia, Leukopenia, Hemolytic anemia	ORPHA:536
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia	ORPHA:79078
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple enchondromatosis, Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomon...	ORPHA:99646

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Etv6

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 Etv6.

No publications found that use IMPC mice or data for Etv6.

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MGI Allele	Allele Type	Produced
Etv6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Etv6^{em1(IMPC)Rbrc}	Indel	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Etv6 MGI:109336

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Etv6 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data