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
increased eosinophil cell number	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.76×10^-08
increased circulating calcium level	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	1.60×10^-05
enlarged spleen	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small lymph nodes	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged urinary bladder	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 seminal vesicle morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
anophthalmia	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal kidney morphology	Dach2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	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 (890 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	Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Endocardial ...	OMIM:607685
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Granulomatous Slack Skin	Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy, Eosinophilia	ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p...	OMIM:212050
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Splenomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy, Mucinous histiocytosis	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	Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo...	OMIM:602450
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:601859
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Eosinophilia, Familial	Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia	OMIM:131400
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites	ORPHA:100025
Rhabdoid Tumor	Neoplasm of the liver, Anemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Hypercalcemia	ORPHA:69077
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut...	OMIM:615387
Diffuse Neonatal Hemangiomatosis	Anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Abnormal vagina morphology, Hypercal...	ORPHA:2123
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r...	OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:603909
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of...	OMIM:619802
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne...	OMIM:226990
Cystic Echinococcosis	Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re...	ORPHA:400
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Lymphadenopa...	OMIM:616651
Thymic Neuroendocrine Tumor	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary null c...	ORPHA:97289
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hypogonadotropic...	ORPHA:353298
Omenn Syndrome	Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino...	OMIM:603554
Microphthalmia, Syndromic 12	Cryptorchidism, Ventricular septal defect, Microphthalmia, Bicornuate uterus, Hypoplastic left at...	OMIM:615524
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Nephrocalcinosis, Hyp...	OMIM:211000
Matthew-Wood Syndrome	Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Microphthalmia, Abnormality of the ...	ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Elevated circulating gamma-aminobutyric acid co...	OMIM:619658
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Omenn Syndrome	Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Eosinophi...	ORPHA:39041
Oculoskeletodental Syndrome	Mucopolysacchariduria, Cryptorchidism, Hepatomegaly, Hypercalciuria, Hypocalcemia, Splenomegaly, ...	OMIM:618440
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Calcinosis, Anemia, Hepatomegaly, Hypercalciuria, Primary hyperparathyroidism, ...	OMIM:239200
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Eosinophilic liver infiltration, Nephrotic syndrome, Eosinophilia, Membranous...	OMIM:618999
Combined Immunodeficiency Due To Zap70 Deficiency	Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Neph...	ORPHA:911
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad...	OMIM:603552
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Loeffler Endocarditis	Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho...	ORPHA:75566
Ethanolaminosis	Cardiomegaly	OMIM:227150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne...	ORPHA:169154
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath...	ORPHA:100024
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic steatosis, Hypocalc...	OMIM:612526
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration...	OMIM:613179
Microphthalmia, Syndromic 9	Hydronephrosis, Cryptorchidism, Hypoplastic spleen, Bilateral microphthalmos, Pulmonic stenosis, ...	OMIM:601186
Hemochromatosis, Type 2B	Elevated transferrin saturation, Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatome...	OMIM:613313
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Anemia, Hyperparathyroidism, Renal insufficiency, Hypercalcemia	ORPHA:2668
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly	OMIM:618852
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Microphthalmia, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, ...	ORPHA:858
Hyperparathyroidism 2 With Jaw Tumors	Polycystic kidney dysplasia, Parathyroid carcinoma, Recurrent pancreatitis, Hyperparathyroidism, ...	OMIM:145001
Burkitt Lymphoma	Hyperuricemia, Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology...	ORPHA:543
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Micropenis, Decreased response to growth hormone stimulation test, Hypercalciuria...	OMIM:614732
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Hypercalcemia, Infantile, 2	Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc...	OMIM:616963
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni...	OMIM:202700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology, T lymphocytopenia	DECIPHER:16
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Microphthalmia, Pericardial ef...	OMIM:613885
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia	ORPHA:46532
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hyperparathyroidism 4	Nephrolithiasis, Parathyroid carcinoma, Primary hyperparathyroidism, Hypercalcemia	OMIM:617343
Immunodeficiency 88	Eosinophilia	OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Immunodeficiency 76	Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia...	ORPHA:276
Trimethylaminuria	Splenomegaly, Neutropenia, Trimethylaminuria, Anemia	OMIM:602079
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Hepatitis, Th...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche...	OMIM:615559
Mast Cell Sarcoma	Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Asplenia, Microphthalmia, Aniridia, Hypocalcemia, Ascites	OMIM:602361
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu...	ORPHA:331206
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno...	OMIM:617514
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hemoglobin H Disease	HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly	OMIM:613978
Lymphatic Filariasis	Hypereosinophilia, Proteinuria, Glomerulonephritis, Orchitis, Vaginal hydrocele, Lymphadenitis, N...	ORPHA:2035
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic...	OMIM:619313
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinem...	OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop...	OMIM:613101
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Galactosemia Iii	Jaundice, Galactosuria, Hypergalactosemia, Hepatomegaly, Aminoaciduria, Splenomegaly	OMIM:230350
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepa...	ORPHA:169160
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Hypercal...	OMIM:143880
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count	OMIM:618261
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co...	ORPHA:54251
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Eosinophilia,...	ORPHA:139402
Multiple Myeloma	Acute kidney injury, Anemia, Hyperproteinemia, Nephropathy, Nephrotic syndrome, Lymphadenopathy, ...	ORPHA:29073
Hyperbilirubinemia, Shunt, Primary	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery...	OMIM:237800
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia...	OMIM:615285
Hemochromatosis, Type 2A	Cardiomyopathy, Hepatomegaly, Cirrhosis, Increased serum iron, Azoospermia, Hypogonadotropic hypo...	OMIM:602390
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hydronephrosis, Hypoproteinemia, Cryptorchidism, Micropenis, Abnormally large...	ORPHA:1655
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive pro...	OMIM:617388
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hyperparathyroidism, Hypercalciuria, Renal tubular acidosis, Hypercalcemia	OMIM:239199
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Prima...	ORPHA:99879
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa...	OMIM:614470
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Blue Diaper Syndrome	Blue urine, Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone...	ORPHA:94086
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop...	OMIM:620135
Mastocytosis	Hepatomegaly, Chronic leukemia, Acute leukemia, Mastocytosis, Splenomegaly, Hypercalcemia	ORPHA:98292
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia, Cardiome...	OMIM:269920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath...	OMIM:300853
Follicular Lymphoma	Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly	ORPHA:545
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto...	OMIM:619375
Trisomy 13	Hydronephrosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular sep...	ORPHA:3378
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge...	OMIM:209950
Hemochromatosis, Type 1	Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cirrhosis, Increased ...	OMIM:235200
Hemoglobin D Disease	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count	OMIM:618982
Alveolar Echinococcosis	Cholangitis, Jaundice, Liver abscess, Abnormal spleen morphology, Renal cyst, Anemia, Abnormality...	ORPHA:284
Immunodeficiency 105	Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu...	OMIM:619924
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria	ORPHA:882
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a...	OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly...	OMIM:612840
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h...	OMIM:607616
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Immunodeficiency 69	Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer...	OMIM:618963
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:79238
Immunodeficiency 16	Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia	OMIM:615593
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly	OMIM:614480
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel...	OMIM:133180
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis, Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasi...	OMIM:145980
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Cor pulm...	OMIM:300755
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili...	OMIM:619868
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre...	OMIM:603902
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy...	ORPHA:766
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased...	OMIM:145981
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ...	ORPHA:98848
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Nephrocalcinosis, Anemia, Phosphoethanolaminuria, Hypercalciuria, ...	OMIM:241500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Autoimmune thrombocytope...	OMIM:102700
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy	OMIM:604765
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Abnormality of the ureter, Hypoplasia of penis, Ascites, Splenomegaly, Hypospadias	ORPHA:1046
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Adamantinoma	Hypercalcemia	ORPHA:55881
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Elevated carcinoembryonic antigen level, Adrenocorticotrop...	ORPHA:100083
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abscess, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenome...	OMIM:150550
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Pancreatitis, Renal insufficiency, Hypermagnesemia, Hypocalciuria, Multiple sma...	OMIM:600740
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:608540
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia	ORPHA:228312
Anemia, Hypochromic Microcytic, With Iron Overload 2	Elevated transferrin saturation, Hypogonadism, Anemia, Decreased mean corpuscular volume, Hepatom...	OMIM:615234
Heme Oxygenase 1 Deficiency	Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,...	OMIM:614034
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadeniti...	OMIM:618886
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Hypoproteinemia, Cryptorchidism, Micropenis, Pulmonary lymphangiectasia, Ventricu...	OMIM:235255
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Splenomegaly, Fetal ascites	OMIM:619462
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Schnitzler Syndrome	Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:37748
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly	OMIM:610539
Cyclic Neutropenia	Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Decreased eosinophil count, Lymphop...	ORPHA:2686
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm...	OMIM:613011
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Nodular goiter	ORPHA:97290
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Neuraminidase Deficiency	Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Urinar...	OMIM:256550
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Nodular goiter	ORPHA:319487
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ...	ORPHA:3261
Oculoskeletodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis	OMIM:269600
Fish-Eye Disease	Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Meckel Syndrome	Situs inversus totalis, True hermaphroditism, Cryptorchidism, Asplenia, Pancreatic fibrosis, Ambi...	ORPHA:564
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Renal i...	ORPHA:449432
Griscelli Syndrome Type 2	Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome...	ORPHA:79477
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ...	OMIM:619846
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Anophthalmia, Hyp...	ORPHA:77298
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:56425
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocyt...	OMIM:308240
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc...	OMIM:609981
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Splenoportal Vascular Anomalies	Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ...	OMIM:271500
Hereditary Amyloidosis With Primary Renal Involvement	Decreased glomerular filtration rate, Hepatomegaly, Hepatosplenomegaly, Decreased circulating apo...	ORPHA:85450
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Trisomy 1Q	Hydronephrosis, Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Congenital megaur...	ORPHA:261344
Amyloidosis, Familial Visceral	Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly	OMIM:105200
Igg4-Related Kidney Disease	Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Sclerosing cholang...	ORPHA:449395
Immunodeficiency 42	Hypoplasia of the thymus, Hepatomegaly, Splenomegaly	OMIM:616622
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:618495
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Leishmaniasis	Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat...	ORPHA:507
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u...	ORPHA:251004
Harderoporphyria	Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ...	OMIM:618892
Beta-Thalassemia	Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypogo...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Portal hypertensio...	OMIM:616278
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Non-Functioning Paraganglioma	Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary norepinephrine, Hematur...	ORPHA:94080
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia	OMIM:147060
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Alpha-Thalassemia	Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel...	ORPHA:846
Congenital Disorder Of Glycosylation, Type Iio	Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol...	OMIM:616828
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Hemophagocytosis, Anemia...	ORPHA:158057
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega...	OMIM:616860
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Pulmonic stenosis, Atrial septal defect, Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Nephronophthisis 19	Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg...	OMIM:616217
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Sickle Cell Disease	Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ...	OMIM:603903
Intermediate Osteopetrosis	Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia	ORPHA:210110
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
Refractory Celiac Disease	Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi...	ORPHA:398063
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Coproporphyria, Hereditary	Jaundice, Increased urinary porphobilinogen, Hepatomegaly, Elevated urinary delta-aminolevulinic ...	OMIM:121300
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ...	ORPHA:486
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Polyuria, Hyponatremia, Hypo...	OMIM:620152
Desmoplastic Small Round Cell Tumor	Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M...	ORPHA:83469
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyperuricemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Hepatitis,...	ORPHA:199299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Elevated circulating creatine kinase concentration, Eosinophilia	OMIM:253600
Grfoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi...	ORPHA:97261
Lymphoproliferative Syndrome 2	Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni...	OMIM:615122
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Spleno...	ORPHA:93476
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal...	OMIM:619644
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Elevated circulating growth hormone concentration, Thymoma, Parathyroid carcinoma,...	ORPHA:276152
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein concentration, Ascite...	ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly	OMIM:224100
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Peritoneal effusion, Lymph...	ORPHA:90362
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Anemia, Pancreatitis, Renal insufficiency, Cardiomyopathy, Hepatomegaly, Thromboc...	ORPHA:79312
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Chronic kidney disease, Exercise-induced myoglobinuria, Elevated creatine ki...	ORPHA:284426
Mirage Syndrome	Decreased testicular size, Cryptorchidism, Hypoplastic spleen, Leukopenia, Shawl scrotum, Microph...	OMIM:617053
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Rosaï-Dorfman Disease	Lymphadenopathy, Anemia	ORPHA:158014
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Coccidioidomycosis	Peritonitis, Abnormal sperm morphology, Abnormality of the liver, Abscess, Pancreatitis, Renal in...	ORPHA:228123
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Cholangitis, Generalized lymphadenopathy, Myeloproliferative disorder, Leukoc...	ORPHA:3260
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
Cholestasis-Lymphedema Syndrome	Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Conjugated hyperbilirubine...	OMIM:214900
Igg4-Related Pachymeningitis	Pancreatitis, Lymphadenitis, Eosinophilia, Parotitis, Elevated circulating C-reactive protein con...	ORPHA:449427
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612126
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia	OMIM:615010
Cholestasis-Lymphedema Syndrome	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,...	ORPHA:1414
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Dysuria	ORPHA:284400
Acquired Idiopathic Sideroblastic Anemia	Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ...	ORPHA:75564
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Neoplasm of the liver, Elevated urinary epi...	ORPHA:653
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, G...	OMIM:618935
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Deafness-Lymphedema-Leukemia Syndrome	Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto...	ORPHA:3226
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis	OMIM:610293
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Sp...	OMIM:252920
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Hyperparathyroidism-Jaw Tumor Syndrome	Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Pancreatitis, Renal insufficienc...	ORPHA:99880
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Hypogonadism	ORPHA:163693
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Anemia, Hepatitis, Abnormality of the tonsils, Thrombocyto...	ORPHA:47
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Hypertriglyceridemia, Pancytopenia, I...	OMIM:300635
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Nephrocalcinosis, Hypoparathyroidism, Hypercalciuria, Hyperphosphaturia, Hyperc...	OMIM:156400
Cockayne Syndrome Type 2	Anophthalmia, Male hypogonadism, Cryptorchidism, Hepatomegaly	ORPHA:90322
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Patent foramen ovale, Atrial septal defect	ORPHA:89844
Macrophage Activation Syndrome	Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Hypertrigl...	ORPHA:158061
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Horseshoe kidney, Anophthalmia, Hepatomegaly, Microphthalmia, Rectovaginal ...	ORPHA:2538
Addison Disease	Thymoma, Normocytic anemia, Increased circulating renin level, Hyperuricemia, Decreased urinary p...	ORPHA:85138
Parathyroid Carcinoma	Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Parathyroid carcinoma, Renal cyst, Pancreati...	ORPHA:143
Classic Hodgkin Lymphoma	Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly	ORPHA:391
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu...	ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,...	OMIM:267700
Pgm3-Cdg	Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro...	ORPHA:443811
Griscelli Syndrome	Jaundice, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, Bone ...	ORPHA:381
Congenital Bile Acid Synthesis Defect Type 1	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,...	ORPHA:79301
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot,...	ORPHA:3426
Anemia, Congenital Dyserythropoietic, Type Ib	Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E...	OMIM:615631
Adult-Onset Still Disease	Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis,...	ORPHA:829
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo...	OMIM:301078
Immunodeficiency 32A	Lymphadenopathy, Granuloma, Lymphadenitis	OMIM:614893
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Renal phosphate wasting, Hyperparathyroidism, Parathyroid hyperplasia, Hypophos...	OMIM:612089
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Polycythemia, Abnorma...	ORPHA:88673
Cholesteryl Ester Storage Disease	Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia	ORPHA:35710
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis	OMIM:613490
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Proteinuria, Tubulointerstitial nephritis, Endocarditis, Renal insufficiency, Eosino...	ORPHA:183
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center	OMIM:608184
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatospl...	OMIM:613673
Congenital Rubella Syndrome	Jaundice, Anemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Microphthalmia, ...	ORPHA:290
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy...	ORPHA:277
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Cardiomyopathy, He...	ORPHA:465508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Atrial septal defect, Renal cyst, Hypoparathyroidism, Congenital megaureter, Ab...	ORPHA:369837
Legionnaires Disease	Myocarditis, Proteinuria, Jaundice, Endocarditis, Pancreatitis, Renal insufficiency, Bone marrow ...	ORPHA:549
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine, Pheochromocytoma, Hypercalcemia	OMIM:171420
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Primary Myelofibrosis	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype...	ORPHA:824
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypoparathyroidism, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Hepatomegaly, Splenomegaly	OMIM:617068
Igg4-Related Aortitis	Hydronephrosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an...	ORPHA:251380
Sarcoidosis	Nephrocalcinosis, Hemolytic anemia, Hepatomegaly, Leukopenia, Hypercalciuria, Parotitis, Nephroli...	ORPHA:797
Vipoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Neoplasm of the liver, ...	ORPHA:97282
Microphthalmia, Syndromic 5	Cryptorchidism, Micropenis, Microphthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, ...	OMIM:610125
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Aminoaciduria	ORPHA:664
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Sea-Blue Histiocytosis	Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:158029
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Microphthalmia, Bilateral cryptorchidism, Patent...	OMIM:618652
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary epinephrine, Adrenal pheochromocytoma, Extraadrenal pheochromocytom...	ORPHA:276621
Pleural Mesothelioma	Lymphadenopathy, Hepatomegaly	ORPHA:50251
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ...	OMIM:617237
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Nephrocalcinosis, Pancreatitis, Hypocalcemic seizures, Hypermagnesemia, R...	ORPHA:405
Somatostatinoma	Gallbladder dysfunction, Elevated circulating growth hormone concentration, Intermittent jaundice...	ORPHA:97283
Pearson Syndrome	Hypoparathyroidism, Cardiomyopathy, Hyperalaninemia, Hepatomegaly, Hypokalemia, Abnormal heart mo...	ORPHA:699
Castleman Disease	Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Ureteral obstruction, Renal insuff...	ORPHA:160
Ppoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi...	ORPHA:97278
Holoprosencephaly	Proteinuria, Abnormal pulmonary valve morphology, Cryptorchidism, Tetralogy of Fallot, Ventricula...	ORPHA:2162
Glycogen Storage Disease Ixa1	Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	OMIM:306000
Osteopetrosis, Autosomal Recessive 1	Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Hypocalcemia, Splenomegaly	OMIM:259700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Parathyroid agenesis, Congenital hypopa...	ORPHA:2239
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Portal hyperte...	ORPHA:98850
Monosomy 13Q34	Hypercalcemia, Common atrium, Hepatic steatosis, Pulmonic stenosis	ORPHA:96168
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Horseshoe kidney, Ventricular septal defect, Atrial sep...	OMIM:274000
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Jaundice, Reduced haptoglobin level, Reticulocytosis, Hep...	OMIM:266200
Uremic Pruritus	Renal hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney disease, Hypermagnesemia, ...	ORPHA:94059
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp...	OMIM:601198
Cockayne Syndrome Type 1	Proteinuria, Cryptorchidism, Anemia, Renal insufficiency, Hepatomegaly, Increased blood urea nitr...	ORPHA:90321
Walker-Warburg Syndrome	Cryptorchidism, Abnormal circulating creatine kinase concentration, Microphthalmia, Hypoplasia of...	ORPHA:899
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Microc...	OMIM:257200
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane...	OMIM:235700
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Hydrolethalus	Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology, Microphthalmia	ORPHA:2189
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary epinephrine, Adrenal pheochromocytoma, Extraadrenal pheochromocytom...	ORPHA:29072
Tularemia	Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm...	ORPHA:3392
Lig4 Syndrome	Cryptorchidism, Leukocytosis, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, Pancytopenia, A...	ORPHA:99812
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hydronephrosis, Nephrocalcinosis, Calcinosis, Renal artery stenosis, Hypokalemia, Hyponatremia, H...	OMIM:617913
Adams-Oliver Syndrome 6	Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus, Splenomegal...	OMIM:616589
Nephroblastoma	Aniridia, Lymphadenopathy, Hematuria, Neoplasm of the liver	ORPHA:654
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Hepatomegaly, Splenomegaly, Anemia	OMIM:618107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Decreased response to growt...	OMIM:241410
Igg4-Related Ophthalmic Disease	Cholangitis, Orchitis, Abnormality of the anterior pituitary, Pancreatitis, Retroperitoneal fibro...	ORPHA:449563
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Pancreatic hypoplasia, Micropenis, Cervical lymphadenopathy, Ventricular sept...	OMIM:602782
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Splenomegaly	OMIM:620210
Aspergillosis	Hepatitis, Neutropenia, Eosinophilia	ORPHA:1163
Anencephaly 2	Anophthalmia	OMIM:619452
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:610333
Stormorken Syndrome	Hypoplastic spleen, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Thrombo...	OMIM:185070
Babesiosis	Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Sple...	ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly...	OMIM:603553
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Elevated circulating amyloid A, Microcytic anemia, Lymphadenopathy, Elevated ...	OMIM:619750
Cholestasis, Progressive Familial Intrahepatic, 3	Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C...	OMIM:602347
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Carnitine Deficiency, Systemic Primary	Hyperammonemia, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase ...	OMIM:212140
Glucagonoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi...	ORPHA:97280
Immunodeficiency 10	Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris	OMIM:612783
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Leukocytosis, Anemia, Cholestasis, Cardiomyopathy, Hepatic fibrosis, Hepatomegal...	OMIM:615895
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ...	ORPHA:231222
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,...	ORPHA:100026
Cinca Syndrome	Leukocytosis, Abnormal granulocyte morphology, Anemia, Abnormality of neutrophils, Hepatomegaly, ...	ORPHA:1451
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo...	OMIM:616689
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Tubuloint...	ORPHA:37042
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn...	ORPHA:521
Immunodeficiency 23	Hemolytic anemia, Abscess, Lymphopenia, Eosinophilia, Membranoproliferative glomerulonephritis, N...	OMIM:615816
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Hyperalaninemia, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Sp...	OMIM:619046
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:3386
Dehydrated Hereditary Stomatocytosis	Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly...	ORPHA:3202
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Pseudohypoparathyroidism, Hyperphosphatemi...	OMIM:603233
Scrub Typhus	Myocarditis, Renal insufficiency, Lymphadenopathy, Splenomegaly	ORPHA:83317
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Abnormal renal physiology, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatom...	ORPHA:540
Pseudomyxoma Peritonei	Abnormality of the peritoneum, Lymphadenopathy, Ascites	ORPHA:26790
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Urinary incontinence, Complete atrioventricular canal defect	ORPHA:476126
Pseudohypoparathyroidism Type 2	Pseudohypoparathyroidism, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Low urinary cyc...	ORPHA:94090
Felty Syndrome	Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen...	ORPHA:47612
Spherocytosis, Type 1	Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S...	OMIM:182900
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Timothy Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Cardiomegaly	OMIM:601005
Hepatoportal Sclerosis	Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ...	ORPHA:64743
Sézary Syndrome	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Acute Adrenal Insufficiency	Normocytic anemia, Increased circulating renin level, Hyperuricemia, Decreased urinary potassium,...	ORPHA:95409
Scleroderma	Myocarditis, Hypereosinophilia, Interstitial cardiac fibrosis, Acute kidney injury, Chronic kidne...	ORPHA:801
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Lymphadenitis, Lymphopenia, Impaired...	OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly	OMIM:619183
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:600649
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Incontinentia Pigmenti	Hypoplasia of the fovea, Leukocytosis, Breast hypoplasia, Supernumerary nipple, Hypoplastic nippl...	OMIM:308300
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Decreased response to growth hormone stimulation test, Hypergonadotropic hy...	OMIM:606407
Microphthalmia, Syndromic 3	Cryptorchidism, Optic nerve aplasia, Micropenis, Ventricular septal defect, Optic nerve hypoplasi...	OMIM:206900
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly	ORPHA:163596
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Renal cyst	OMIM:615636
Hypocomplementemic Urticarial Vasculitis	Proteinuria, Renal insufficiency, Hepatomegaly, Abnormal heart valve morphology, Lymphadenopathy,...	ORPHA:36412
Spherocytosis, Type 5	Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Reticulocytosis, Leukocytosis, Heinz ...	OMIM:300908
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Hypoplasia of the iris, Thrombocytopenia, Lymphadenopathy, Spleno...	ORPHA:169090
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hypercholest...	ORPHA:370
Bartter Syndrome, Type 1, Antenatal	Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased u...	OMIM:601678
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis...	OMIM:179800
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C...	OMIM:616050
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia, Unilateral cryptorchidism	OMIM:206920
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231000
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, Lymphadenopath...	OMIM:618048
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi...	OMIM:619849
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly...	ORPHA:75565
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri...	OMIM:208540
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa...	OMIM:616100
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti...	OMIM:613470
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Cardiac myxoma, Cardiomegal...	ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperprolinemia, Cardiomegaly, Hepatomegaly, Hyperalaninemia	OMIM:619064
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ...	OMIM:205400
Osteopetrosis, Autosomal Recessive 5	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Hyperbiliru...	OMIM:259720
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope...	ORPHA:231154
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Ventricular septal defect, Atrial septal defect, Clitoral hypertrophy...	OMIM:606003
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Meacham Syndrome	Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen...	ORPHA:3097
Congenital Pulmonary Lymphangiectasia	Pulmonic stenosis, Hepatomegaly, Chylopericardium, Splenomegaly, Ascites	ORPHA:2414
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Calcium nephrolithiasis, Autoimmune hypop...	ORPHA:36913
Spherocytosis, Type 4	Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly	OMIM:612653
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Secundum atrial septal defect, Tetralogy of Fallot, Horseshoe k...	OMIM:214800
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia	OMIM:619170
Cholesteryl Ester Storage Disease	Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo...	OMIM:278000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi...	OMIM:601847
Gaucher Disease, Type Iiic	Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos...	OMIM:231005
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Horseshoe kidney, Hepatomegaly, Lymphopenia, Decreased proportion of CD4-posit...	ORPHA:508533

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Gene: Dach2 MGI:1890446

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Human diseases caused by Dach2 mutations