Gene Summary

Name:
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6
Synonyms:
Af17

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Mllt6em1(IMPC)Tcp HOM Early adult 5.27×10-08
enlarged spleen Mllt6em1(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Mllt6em1(IMPC)Tcp HOM Late adult 0.00
abnormal uterus morphology Mllt6em1(IMPC)Tcp HOM Early adult 0.00
increased mean platelet volume Mllt6em1(IMPC)Tcp HOM Late adult 5.40×10-06
decreased lymphocyte cell number Mllt6em1(IMPC)Tcp HOM Late adult 4.89×10-05
increased neutrophil cell number Mllt6em1(IMPC)Tcp HOM Late adult 9.61×10-05
abnormal skin morphology Mllt6em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Mllt6em1(IMPC)Tcp HOM Middle aged adult 5.52×10-05
decreased bone mineral density Mllt6em1(IMPC)Tcp HOM Late adult 1.81×10-09
small adrenal glands Mllt6em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Mllt6em1(IMPC)Tcp HOM Late adult 0.00
increased spleen weight Mllt6em1(IMPC)Tcp HOM Late adult 1.21×10-12
cataract Mllt6em1(IMPC)Tcp HOM Late adult 9.48×10-05
decreased exploration in new environment Mllt6em1(IMPC)Tcp HOM   Early adult 6.74×10-06

Download data as:  TSV  XLS

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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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

4 Images

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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.

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 Similarity of
phenotypes
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