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Gene: Mllt6 MGI:1935145

Gene Summary

Name:

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6

Synonyms:

Af17

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased prepulse inhibition	Mllt6^em1(IMPC)Tcp	HOM	Early adult	5.27×10^-08
enlarged spleen	Mllt6^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal liver morphology	Mllt6^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal uterus morphology	Mllt6^em1(IMPC)Tcp	HOM	Early adult	0.00
increased mean platelet volume	Mllt6^em1(IMPC)Tcp	HOM	Late adult	5.40×10^-06
decreased lymphocyte cell number	Mllt6^em1(IMPC)Tcp	HOM	Late adult	4.89×10^-05
increased neutrophil cell number	Mllt6^em1(IMPC)Tcp	HOM	Late adult	9.61×10^-05
abnormal skin morphology	Mllt6^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Mllt6^em1(IMPC)Tcp	HOM	Middle aged adult	5.52×10^-05
decreased bone mineral density	Mllt6^em1(IMPC)Tcp	HOM	Late adult	1.81×10^-09
small adrenal glands	Mllt6^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal stomach morphology	Mllt6^em1(IMPC)Tcp	HOM	Late adult	0.00
increased spleen weight	Mllt6^em1(IMPC)Tcp	HOM	Late adult	1.21×10^-12
cataract	Mllt6^em1(IMPC)Tcp	HOM	Late adult	9.48×10^-05
decreased exploration in new environment	Mllt6^em1(IMPC)Tcp	HOM	Early adult	6.74×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

159 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

10 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Mllt6 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 Mllt6 (0 diseases)
Human diseases predicted to be associated with Mllt6 (792 diseases)

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

The table below shows human diseases predicted to be associated to Mllt6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizophrenia 19	Cognitive impairment	OMIM:617629
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Myh9-Related Disease	Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Preseni...	ORPHA:182050
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Immunodeficiency 18	Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets	OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Fechtner syndrome	Neutrophil inclusion bodies, Leukocyte inclusion bodies, Developmental cataract, Giant platelets,...	OMIM:153640
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Immunodeficiency 40	Lymphopenia	OMIM:616433
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Increased mean platelet volume, Pyloric stenosis, Intestinal pseudo-obstr...	OMIM:300048
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency 8	Lymphopenia	OMIM:615401
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi...	OMIM:231200
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Tyrosinemia Type 1	Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car...	ORPHA:882
Congenital Bile Acid Synthesis Defect Type 1	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El...	ORPHA:79301
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality...	ORPHA:172
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Peroxisome Biogenesis Disorder 10A (Zellweger)	High palate, Hepatomegaly, Cataract, Epiphyseal stippling	OMIM:614882
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio...	OMIM:210250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Mantle Cell Lymphoma	Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly	ORPHA:52416
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Cataract 20, Multiple Types	Membranous cataract, Cataract	OMIM:116100
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Cataract	OMIM:273680
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Immunodeficiency 104	Hepatomegaly, Gastroesophageal reflux, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia, Lymphadenopathy	ORPHA:100024
Pelger-Huet Anomaly	Median cleft palate, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant pla...	OMIM:169400
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix	OMIM:613490
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Catara...	OMIM:614876
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope...	OMIM:617718
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopen...	OMIM:603552
Neonatal Severe Primary Hyperparathyroidism	Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr...	ORPHA:417
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension	OMIM:617068
Immunodeficiency 31C	Lymphopenia, Osteopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Aut...	OMIM:614162
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,...	OMIM:615897
Syndromic Diarrhea	Colitis, Lymphopenia, Hepatoblastoma, Gastritis, Splenomegaly, Hepatomegaly, Cirrhosis, Hypoplasi...	ORPHA:84064
Immunodeficiency 19	Lymphopenia	OMIM:615617
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h...	OMIM:614470
Lathosterolosis	High palate, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosi...	OMIM:607330
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Galactose Epimerase Deficiency	Cataract, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog...	OMIM:615234
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Wolman Disease	Adrenal insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Adrenal calcification, Hepatic fa...	ORPHA:75233
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia	OMIM:615085
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho...	ORPHA:2978
Ghosal Hematodiaphyseal Dysplasia	Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly	ORPHA:1802
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hepatic failure, Esophageal varix, ...	ORPHA:75234
Osteopetrosis, Autosomal Dominant 3	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Hyperparathyroidism, Anemia	OMIM:618107
Alpha-Heavy Chain Disease	Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L...	ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome...	OMIM:616860
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ...	OMIM:619924
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact...	OMIM:261000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce...	OMIM:278000
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 3	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic...	OMIM:602347
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Splenoportal Vascular Anomalies	Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven...	OMIM:271500
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos...	OMIM:611490
Cholestasis-Lymphedema Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho...	OMIM:214900
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosple...	OMIM:612840
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad...	OMIM:613313
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Hypothyr...	OMIM:618849
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Bifid uvula, Cholestasis, Abnormality of ...	OMIM:222470
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Calvarial hyper...	OMIM:612714
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cirrhosis, Abnormality of the lymphatic...	ORPHA:1414
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hy...	ORPHA:848
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia	OMIM:617441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadeno...	OMIM:613101
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,...	OMIM:301078
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp...	ORPHA:37748
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Oste...	OMIM:211600
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis	ORPHA:2582
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic...	OMIM:619658
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly	ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles...	OMIM:620010
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ...	ORPHA:98848
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia	OMIM:607616
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Elevat...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas...	OMIM:616278
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, ...	ORPHA:281090
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Arthritis, Elevated hepatic transaminase, ...	OMIM:604250
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Osteoarthritis, Cataract, Diabetes mellitus, Anemia, Hepatic steatosis	OMIM:606069
Corneal Dystrophy, Groenouw Type I	Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy	OMIM:121900
Pfapa Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Lymphadenopathy	ORPHA:42642
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Colitis, Hemophagocytosis, Spl...	OMIM:619802
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Hematemesis, Decreased platelet glycoprotein Ib...	ORPHA:274
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Lymphadenopathy, A...	ORPHA:100026
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Inflammation of the large...	OMIM:300635
Budd-Chiari Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy...	ORPHA:131
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al...	ORPHA:3453
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract	OMIM:618660
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Absence of sec...	ORPHA:2410
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Aggressive Systemic Mastocytosis	Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis...	ORPHA:98850
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep...	OMIM:615559
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hepatic failure, Splenomegaly	ORPHA:664
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ...	ORPHA:158057
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Pyloric stenosis, Abnormality of neutrophils, Hepatitis, ...	ORPHA:381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Atrophic gastritis, Autoimmune thromboc...	OMIM:616100
Serrated Polyposis Syndrome	Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly...	ORPHA:157798
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s...	OMIM:619846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C...	OMIM:300853
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619868
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Flexion contracture, Cataract, B lymphocytopenia	OMIM:619851
Gaucher Disease Type 2	Dysphagia, Hepatomegaly, Flexion contracture, Splenomegaly	ORPHA:77260
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, L...	OMIM:618935
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminas...	OMIM:613812
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Proteus Syndrome	Lymphangioma, Calvarial hyperostosis, Splenomegaly, Limbal dermoid, Thin bony cortex, Mandibular ...	OMIM:176920
Cronkhite-Canada Syndrome	Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal polyposis,...	ORPHA:2930
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,...	OMIM:228000
Babesiosis	Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun...	ORPHA:108
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation	OMIM:616217
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Cryptorchidism, Thrombocytopenia, Camptodactyly	OMIM:616737
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade...	OMIM:618534
Immunodeficiency 14B, Autosomal Recessive	Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in...	OMIM:619281
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Iris hypopigmentation, Pancytopenia, L...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly	OMIM:608540
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Wilson Disease	Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,...	ORPHA:905
Congenital Rubella Syndrome	Corneal opacity, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Type I diabetes mell...	ORPHA:290
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct...	OMIM:617394
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno...	OMIM:609981
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Limited pronation/supination of forearm, Cleft palate, Congenital thrombocytope...	OMIM:616738
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome...	OMIM:616828
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas...	OMIM:194380
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ...	OMIM:243150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Band keratopathy, Hyperthy...	OMIM:269200
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly	OMIM:121300
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro...	OMIM:610333
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Intermediate Osteopetrosis	Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ...	ORPHA:210110
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Spherocytosis, Type 1	Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:182900
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin...	OMIM:308240
Gaucher Disease Type 1	Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthriti...	ORPHA:77259
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
Hurler-Scheie Syndrome	Corneal opacity, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Limitation of joint mobi...	ORPHA:93476
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,...	ORPHA:54251
Infantile Sialic Acid Storage Disease	High palate, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Ascites, Cardiomegaly	OMIM:269920
46,Xy Sex Reversal 3	Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo...	OMIM:612965
Oculocerebral Hypopigmentation Syndrome Of Preus	High palate, Cataract, High, narrow palate, Hypochromic anemia	OMIM:257790
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Thrombocytopenia, Cataract, Decreased liver function	ORPHA:67048
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma...	OMIM:601847
Maternal Uniparental Disomy Of Chromosome 1	Gastroesophageal reflux, Hepatomegaly, Type I diabetes mellitus, Cataract, Pancytopenia, Epiphyse...	ORPHA:251009
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,...	ORPHA:3226
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype...	OMIM:219080
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Sialidosis Type 2	Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Osteoporosis, Ascites	ORPHA:87876
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Anemia, Splenomegaly	ORPHA:75563
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arthritis	OMIM:602390
Leishmaniasis	Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami...	ORPHA:507
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthr...	ORPHA:158061
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Lymphopenia, Hemolytic anemia, Ileal ulcer, Thrombocytopenia	OMIM:616744
Fish-Eye Disease	Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Ascites, Cataract, Bone-marrow ...	OMIM:256550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Alpha-Mannosidosis	Corneal opacity, Narrow palate, Hepatomegaly, Type II diabetes mellitus, Macroglossia, Splenomega...	ORPHA:61
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cataract, Cholestasis	ORPHA:570422
Cataract-Microcornea Syndrome	Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta...	ORPHA:53035
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype...	OMIM:615830
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli...	ORPHA:98849
Lymphangiectasia, Intestinal	Malabsorption, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Arthritis, Hy...	OMIM:304790
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice	OMIM:608885
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leu...	ORPHA:3318
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat...	OMIM:616050
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m...	OMIM:231095
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormalit...	ORPHA:234
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Fetal Gaucher Disease	High palate, Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogr...	ORPHA:85212
Familial Cold Autoinflammatory Syndrome 2	Arthritis, Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Thrombocytopenia 1	Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat...	OMIM:313900
Hemochromatosis, Type 1	Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc...	OMIM:235200
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:616649
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hiatus hernia, Hepatomegaly, Splenomegaly, Buphthalmos, Osteopenia, Congenital hypothyroidism, De...	OMIM:610199
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Dysphagia, Anemia, Thrombocytopenia	OMIM:230900
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-...	OMIM:613011
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera...	OMIM:257200
Cataract 9, Multiple Types	Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract	OMIM:604219
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahep...	OMIM:235555
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Hepatic steatosis	OMIM:612526
Immunodeficiency 95	Lymphopenia	OMIM:619773
Wiskott-Aldrich Syndrome	Melena, Lymphopenia, Hematemesis, Eosinophilia, Absent microvilli on the surface of peripheral bl...	OMIM:301000
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231000
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno...	OMIM:273250
Immunodeficiency, Common Variable, 8, With Autoimmunity	Colitis, Splenomegaly, Atrophic gastritis, Autoimmune thrombocytopenia, B lymphocytopenia, Arthri...	OMIM:614700
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie...	ORPHA:231226
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:618495
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a...	OMIM:139090
Majeed Syndrome	Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytosis, Congeni...	ORPHA:77297
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Elevated circulating alanine aminotransf...	OMIM:618805
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the endocrine system, Flexion contracture, Abnormality of the lymphatic system, Ca...	ORPHA:487796
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Lymphadenitis...	ORPHA:331206
Megalocornea	Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir...	OMIM:309300
Senior-Loken Syndrome	Cataract, Abnormality of bone mineral density, Congenital hepatic fibrosis	ORPHA:3156
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Chronic Granulomatous Disease	Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Mediastinal lymphadenopathy...	ORPHA:379
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt...	ORPHA:231214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Pancytopeni...	OMIM:618394
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Felty Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis, Synovitis, Neu...	ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal...	OMIM:613673
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St...	ORPHA:263665
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymphocytopenia, Absent ...	ORPHA:277
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi...	ORPHA:96181
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone mar...	ORPHA:86843
Harderoporphyria	Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis	OMIM:618892
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Periostitis, Osteomyelitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused ...	OMIM:612852
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Leydig Cell Hypoplasia	Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ...	ORPHA:755
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test, Anteriorly ...	OMIM:618624
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy...	OMIM:224120
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Cyclic Neutropenia	Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic ...	ORPHA:2686
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iij	Recurrent infection of the gastrointestinal tract, Hepatomegaly, Hepatic failure, Splenomegaly, C...	OMIM:613489
Hardikar Syndrome	Hepatomegaly, Hepatic failure, Cholestasis, Esophageal varix, Prolonged neonatal jaundice, Bile d...	OMIM:301068
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev...	ORPHA:398124
Primary Pigmented Nodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi...	ORPHA:189439
Immunodeficiency 36	Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre...	OMIM:616005
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Galactosemia I	Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu...	OMIM:230400
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Arthritis, Generalized lymphadenopathy, H...	ORPHA:829
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Oste...	OMIM:259700
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans...	OMIM:613027
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Pyloric stenosis, Abdominal adhesions, Cataract, Developmental cataract, Neutropenia...	OMIM:616395
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Arthritis, Elevated hepatic transam...	OMIM:617591
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Free Sialic Acid Storage Disease	Hepatomegaly, Reduced bone mineral density, Splenomegaly, Iris hypopigmentation, Ascites	ORPHA:834
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Adrenal insufficienc...	OMIM:240300
Galactosemia	Hepatomegaly, Reduced bone mineral density, Hepatic failure, Cirrhosis, Abnormal erythrocyte enzy...	ORPHA:352
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Alpha-Mannosidosis, Adult Form	Recurrent gastroenteritis, Corneal opacity, Macroglossia, Osteopenia, Hepatosplenomegaly, Catarac...	ORPHA:309288
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Lymphopenia	OMIM:616636
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-posi...	OMIM:619510
Omenn Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Hypothyro...	ORPHA:39041
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Helicobacter pylori infection, Neutropenia, Monocytopenia	ORPHA:2688
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Chediak-Higashi Syndrome	Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni...	OMIM:214500
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto...	OMIM:619644
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Hereditary Elliptocytosis	Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong...	ORPHA:288
Cinca Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp...	ORPHA:1451
Myelofibrosis	Myeloproliferative disorder, Myelofibrosis, Splenomegaly	OMIM:254450
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can...	ORPHA:2494
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the...	OMIM:233420
Classic Galactosemia	Hepatomegaly, Reduced bone mineral density, Hepatic failure, Osteoporosis, Abnormal erythrocyte e...	ORPHA:79239
Congenital Tufting Enteropathy	Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo...	ORPHA:92050
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Gastrointest...	ORPHA:91138
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A...	OMIM:614837
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Flexion contracture	OMIM:612138
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Recurrent infection of the gastrointestinal tract, Osteopenia, Eosinophilia, Monocyt...	ORPHA:486
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome	OMIM:103900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho...	ORPHA:391487
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis	OMIM:240500
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly	ORPHA:163596
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ...	ORPHA:168563
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Adams-Oliver Syndrome 6	Hepatic fibrosis, Esophageal varix, Portal hypertension, Splenomegaly	OMIM:616589
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In...	ORPHA:189427
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Osteoporosis, Macronodular adrenal hyperplasia, Increased u...	OMIM:615954
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor...	ORPHA:44890
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Op...	OMIM:614866
Symptomatic Form Of Hemochromatosis Type 1	Joint stiffness, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testostero...	ORPHA:465508
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:56425
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom...	OMIM:603903
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami...	ORPHA:567983
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Corneal neovascularization, Hypereosinophilia, Punctate keratitis, Au...	OMIM:617388
Stiff Skin Syndrome	Gastroesophageal reflux, Camptodactyly, Cataract, Elbow flexion contracture, Knee flexion contrac...	OMIM:184900
Isolated Biliary Atresia	Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis...	ORPHA:30391
Pediatric-Onset Graves Disease	Keratitis, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Graves disease, Cr...	ORPHA:525731
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly	OMIM:607271
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly, Cataract	OMIM:613730
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-...	ORPHA:403
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni...	OMIM:208540
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ...	ORPHA:2442
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Cirrhosis, Xerostomia,...	ORPHA:779
Mixed Connective Tissue Disease	Joint stiffness, Gastritis, Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Leukopenia, Xero...	ORPHA:809
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Ataxia-Telangiectasia	Type II diabetes mellitus, Lymphopenia, Elevated hepatic transaminase, Delayed puberty, Diabetes ...	ORPHA:100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Abnormal erythrocyte enzyme level, Hepatocel...	ORPHA:264580
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He...	OMIM:618641
Pseudo-Torch Syndrome 1	High palate, Decreased liver function, Hepatomegaly, Splenomegaly, Opacification of the corneal s...	OMIM:251290
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Mirage Syndrome	Adrenal insufficiency, Lymphopenia, Gastroesophageal reflux, Cryptorchidism, Hypergonadotropic hy...	OMIM:617053
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly	OMIM:618398
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Decreased proportion of CD3-positive T ...	ORPHA:169160
Common Variable Immunodeficiency	Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Splenomegaly, Autoimmune thrombocytopen...	ORPHA:1572
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Left ventricular hypertrophy, Abnormal circulating renin, Glucocortocoid-ins...	ORPHA:251274
Transaldolase Deficiency	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp...	OMIM:606003
Psoriasis 14, Pustular	Oligoarthritis, Neutrophilia, Leukocytosis, Geographic tongue, Furrowed tongue, Cholangitis	OMIM:614204
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Decreased proportion of class-switched memory B cells, Cataract, Corneal erosion, ...	OMIM:614878
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn...	ORPHA:1916
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Bone marrow hypocellularity...	ORPHA:3261
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomeg...	ORPHA:79237
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum...	OMIM:617319
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Spl...	ORPHA:540
Scleroderma	Keratitis, Osteomyelitis, Intestinal bleeding, Gastroesophageal reflux, Flexion contracture, Abno...	ORPHA:801
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Esophageal stricture, Hepatic fibrosis, ...	OMIM:613989
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Proteus-Like Syndrome	Abnormal pupil morphology, Splenomegaly, Abnormality of the parathyroid gland, Limbal dermoid, Th...	ORPHA:2969
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad...	ORPHA:90797
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Gastroesophageal reflux, Hepatomegaly, Ocular albinism, Splenom...	OMIM:608233
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Multiple joint contractures, Gastroesophageal reflux, Decreased serum t...	ORPHA:2959
Glycogen Storage Disease Ib	Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Osteopor...	OMIM:232220
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve...	ORPHA:370
Scheie Syndrome	Joint stiffness, Corneal opacity, Hepatomegaly, Splenomegaly, Limitation of joint mobility	ORPHA:93474
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Flexion contracture, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Esophageal varix...	OMIM:263200
Oculoskeletodental Syndrome	Hepatomegaly, Macroglossia, Splenomegaly, Hypothyroidism, Protein-losing enteropathy, Elbow flexi...	OMIM:618440
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Lymphopenia, Joint hypermobility, Increased susceptibility to fractures, Neutropenia...	OMIM:619752
Testicular Agenesis	Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn...	ORPHA:325124
Tetraamelia Syndrome 1	Anal atresia, Cleft palate, Cataract, Asplenia, Adrenal gland agenesis	OMIM:273395
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Corneal scarring, Flexion contracture, Abnormal esophagus morphology, Spontaneous esophageal perf...	OMIM:226600
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh...	OMIM:300972
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency

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Gene: Mllt6 MGI:1935145

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lacZ Expression