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Gene: Dach2 MGI:1890446

Gene Summary

Name:

dachshund family transcription factor 2

Synonyms:

9430028N04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal kidney morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating calcium level	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	1.60×10^-05
enlarged lymph nodes	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small lymph nodes	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased eosinophil cell number	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.62×10^-08
small seminal vesicle	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal urinary bladder morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
anophthalmia	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged urinary bladder	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Dach2 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 Dach2 (0 diseases)
Human diseases predicted to be associated with Dach2 (885 diseases)

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

The table below shows human diseases predicted to be associated to Dach2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia	ORPHA:69077
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Abnormal vagina morphology, Anemia, Ascites, Th...	ORPHA:2123
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat...	ORPHA:353298
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan con...	OMIM:211000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter...	OMIM:615524
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati...	OMIM:603552
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous...	OMIM:618999
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,...	OMIM:618440
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Ethanolaminosis	Cardiomegaly	OMIM:227150
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,...	ORPHA:858
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Nephrolithiasis, Parathyroid carci...	OMIM:145001
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Bilateral microphtha...	OMIM:601186
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal...	OMIM:613885
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hyperparathyroidism 4	Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism...	OMIM:614732
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites	OMIM:602361
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy...	OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy...	ORPHA:2035
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne...	ORPHA:139402
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph...	ORPHA:29073
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Trisomy 13	Atrial septal defect, Anophthalmia, Ventricular septal defect, Cryptorchidism, Abnormality of the...	ORPHA:3378
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut...	ORPHA:293173
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas...	OMIM:300755
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Adamantinoma	Hypercalcemia	ORPHA:55881
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly	OMIM:608540
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat...	OMIM:618886
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Adrenocorticotrop...	ORPHA:100083
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p...	ORPHA:449432
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr...	ORPHA:251004
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcem...	ORPHA:199299
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess	OMIM:618282
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Microp...	ORPHA:77298
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Anophthalmia, Cryptorchid...	ORPHA:261344
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutrope...	ORPHA:79312
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat...	OMIM:619644
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Renal insufficiency, Eosinophilia, Abscess, Abnormality ...	ORPHA:228123
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia	ORPHA:284400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pa...	ORPHA:449427
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasi...	ORPHA:653
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Abnormalit...	ORPHA:2538
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypogonadism, Hypocalcemia, Cystinuria	ORPHA:163693
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp...	OMIM:156400
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:276152
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ...	ORPHA:47
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperkalemia, Anemia, ...	OMIM:617053
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:99880
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left he...	ORPHA:3426
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,...	ORPHA:381
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:143
Addison Disease	Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Hypercalcemia, R...	ORPHA:85138
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypophosph...	OMIM:612089
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena...	ORPHA:369837
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Eosinophilia, Myocarditis, End...	ORPHA:183
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th...	ORPHA:290
Cockayne Syndrome Type 2	Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:276621
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration	ORPHA:449400
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Wells Syndrome	Eosinophilia	ORPHA:901
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:29072
Monosomy 13Q34	Common atrium, Hepatic steatosis, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia...	OMIM:610125
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Ve...	OMIM:274000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary va...	ORPHA:2162
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht...	OMIM:618652
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy...	ORPHA:3392
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Nephroblastoma	Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hematu...	OMIM:185070
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Increased blood ure...	ORPHA:90321
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra...	ORPHA:899
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, J...	OMIM:603553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le...	OMIM:615895
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Hepatitis...	ORPHA:37042
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati...	ORPHA:540
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Urinary incontinence, Hypercalcemia	ORPHA:476126
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Neutropenia, L...	OMIM:615816
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal...	OMIM:241410
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97280
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:94090
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH...	OMIM:603233
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith...	OMIM:606407
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Incontinentia Pigmenti	Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl...	OMIM:308300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Joubert Syndrome 21	Splenomegaly, Anophthalmia, Renal cyst	OMIM:615636
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Anencephaly 2	Anophthalmia	OMIM:619452
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly	OMIM:619064
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalc...	ORPHA:36913
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron...	OMIM:606003
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ...	OMIM:206900
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors...	ORPHA:2136
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, ...	ORPHA:508533
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Mucoepithelial Dysplasia, Hereditary	Hematuria, Cor pulmonale, Eosinophilia	OMIM:158310
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism	OMIM:203330
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated circulating growth ho...	ORPHA:249
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
Fraser Syndrome 1	Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Abnormal h...	OMIM:219000
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect...	ORPHA:3097
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp...	ORPHA:2237
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem...	OMIM:300280
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Mitral valve prolapse, Hypocalcemia, Nephropathy	ORPHA:1563
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni...	ORPHA:2323
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Pseudohypoparathyroidism, Type Ic	Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cyclic AMP r...	OMIM:612462
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,...	OMIM:614702
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites	OMIM:253250
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pericardia...	ORPHA:464329
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H...	ORPHA:667
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Dil...	ORPHA:2556
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Ring Chromosome 10 Syndrome	Microphthalmia, Hypocalcemia	ORPHA:1438
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis, Patent foramen ovale	OMIM:607143
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Supernumerary nipple	ORPHA:464
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,...	ORPHA:93552
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy...	ORPHA:2348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Elevated circulating creatine kinase concentration, Abscess, Glomerulonephri...	ORPHA:36234
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H...	ORPHA:79083
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Hypoalbuminem...	OMIM:618183
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Williams-Beuren Syndrome	Renal insufficiency, Bicuspid aortic valve, Hypercalcemia, Portal hypertension, Ventricular septa...	OMIM:194050
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Renal insufficiency, Portal hyp...	ORPHA:171
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ...	ORPHA:73224
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cholestasis, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Diff...	ORPHA:746
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly	OMIM:268800
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Nephropathy, Hypocalcemia	ORPHA:2238
Fibular Hemimelia	Anophthalmia, Thrombocytopenia, Abnormal heart morphology	ORPHA:93323
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogo...	ORPHA:168569
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocy...	ORPHA:247353
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp...	OMIM:216360
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase con...	OMIM:608836
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As...	OMIM:616897
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c...	ORPHA:57777
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Mi...	OMIM:619418
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Atrial septal defect, Vesicour...	ORPHA:567
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size	OMIM:201100
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Tetralogy of Fallot, ...	ORPHA:138
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis...	ORPHA:342
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Anemia, Hypocalcemia,...	ORPHA:163979
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism, ...	ORPHA:264200
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal...	OMIM:264700
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi...	OMIM:619632
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype...	ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N...	OMIM:617713
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu...	ORPHA:167
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El...	OMIM:210250
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Hypocalcemia, Atrial ...	OMIM:300712
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice...	ORPHA:2137
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visce...	ORPHA:2905
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ...	OMIM:127000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia...	ORPHA:391428
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:3412
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Abnormality...	OMIM:222470
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Cryptorchidis...	OMIM:300166
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Cardiomyopathy, Abnormal cardiac septum morphology, Mu...	ORPHA:175
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Ventricular septal defect,...	ORPHA:821
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Unilateral renal agenesis, ...	OMIM:188400
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb...	ORPHA:567983
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubi...	ORPHA:39812
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu...	ORPHA:158048
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Uni...	ORPHA:141099
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Multicystic kidney dysplasia, Cryp...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbil...	ORPHA:30391
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Abnormal morphology of female intern...	ORPHA:538
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas...	OMIM:620306
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal...	ORPHA:289157
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ...	OMIM:243800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia	OMIM:605627
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Myocarditis, Leukocytosis, Hyperkalemia, O...	ORPHA:544482
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc...	ORPHA:100093
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar...	ORPHA:358
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Horse...	OMIM:616368
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La...	OMIM:269700
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Duplication of internal organs, ...	OMIM:113620
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clito...	OMIM:305600
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s...	ORPHA:100078
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca...	ORPHA:90041
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Nephrol...	OMIM:608594
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin conce...	OMIM:222700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut...	ORPHA:99827
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:308552
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Hypocalcemia, Tetralogy of Fallot	OMIM:192430
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Renal insufficiency, Elevated circulating creatine ki...	ORPHA:99826
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Hypocalcemia, Micropenis, P...	OMIM:619503
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Low urinary cyclic AMP response to PTH...	OMIM:103580
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Microphtha...	ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ...	OMIM:256040
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l...	ORPHA:2331
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Renal magnesium wa...	OMIM:218330
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto...	ORPHA:14
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Behçet Disease	Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnorma...	ORPHA:117
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphy...	OMIM:263700
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bile duct proliferation, Hypocalce...	OMIM:613658
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia, Horseshoe kidney	ORPHA:1106
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto...	ORPHA:99889
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia	ORPHA:71493
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, Ascites	OMIM:616843
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ...	OMIM:619472
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hypocalcemic seizures, Anemia, Hepatomegaly	OMIM:612301
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ...	ORPHA:268
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyr...	ORPHA:93325
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Mitral valve p...	OMIM:245600
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Microphthalmi...	OMIM:607932
Blau Syndrome	Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the l...	ORPHA:90340
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormally l...	ORPHA:2729
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno...	ORPHA:100079
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Renal insufficiency, Glo...	ORPHA:289390
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr...	ORPHA:509
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leuk...	ORPHA:96253
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc...	ORPHA:97297
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, R...	ORPHA:3472
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Ventricular septal defect, Optic nerve hypoplasia, Hypocalcemia, Hydronephrosis	OMIM:620330
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:365
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Bicuspid aortic valve, Hydroureter, Cryptorchidism, Renal hypoplasia, ...	OMIM:309800
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna	ORPHA:420741
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Vesicouret...	OMIM:164210
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, My...	ORPHA:3385
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Dermatomyositis	Myocarditis, Pericarditis, Abnormal eosinophil morphology	ORPHA:221
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node	ORPHA:707
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

Histopathology

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

There is no histopathology data for Dach2

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 Dach2.

No publications found that use IMPC mice or data for Dach2.

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MGI Allele	Allele Type	Produced
Dach2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Dach2^{tm231057(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Dach2 MGI:1890446

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Dach2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data