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Gene: Atp4a MGI:88113

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ATPase, H+/K+ exchanging, gastric, alpha polypeptide

Synonyms:

H+K+-transporting alpha 1, H+/K+-ATPase alpha

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Atp4a 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 Atp4a (0 diseases)
Human diseases predicted to be associated with Atp4a (933 diseases)

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

The table below shows human diseases predicted to be associated to Atp4a by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Diarrhea,...	OMIM:618963
Gastric Cancer	Stomach cancer	OMIM:613659
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ...	OMIM:209950
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:613313
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Hypothyroidism, Diarrhea, Decreased circulat...	OMIM:226300
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase...	ORPHA:398063
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Hypothyroidism, Anisopoikilocytosis, Reticulocytope...	ORPHA:300298
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ...	OMIM:619281
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg...	ORPHA:100025
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Increased T ce...	ORPHA:263665
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombo...	ORPHA:54057
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Dysphagia, Acanthocytosis	OMIM:607236
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr...	OMIM:606069
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology	ORPHA:234
Plummer-Vinson Syndrome	Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,...	ORPHA:54028
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,...	OMIM:112200
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Intestinal perforation, Pancreatitis, Leukocytosis,...	ORPHA:90038
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Stomatitis, Celiac disease, Diarrhea, Thyroiditis, Iron deficiency anemia, Vom...	OMIM:212750
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched...	OMIM:619652
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Diarr...	OMIM:301074
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Hypothyroidism	OMIM:607906
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Blue Rubber Bleb Nevus	Gastrointestinal infarctions, Intestinal bleeding, Volvulus, Microcytic anemia	ORPHA:1059
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Spleno...	ORPHA:64743
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Tumor Predisposition Syndrome 4	Stomach cancer	OMIM:609265
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Malabsorption, Diarrhea, Leukopenia, Neutropenia, Thrombo...	OMIM:229050
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Diarrhea, Steatorr...	ORPHA:71
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D...	OMIM:235400
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Dysphagia, Acanthocytosis	OMIM:200150
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia	OMIM:229100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbumi...	ORPHA:37042
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Congenital Atransferrinemia	Abnormality of the pancreas, Hypothyroidism, Anemia	ORPHA:1195
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia	ORPHA:51208
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Cleft palate	OMIM:300946
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Follicula...	OMIM:615934
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Reduced nat...	OMIM:616050
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi...	ORPHA:1667
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:619632
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia	OMIM:616457
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh...	ORPHA:324636
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody di...	ORPHA:84064
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Majeed Syndrome	Hepatomegaly, Malabsorption, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochrom...	ORPHA:77297
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hematemesis, Increased circulating ACTH leve...	ORPHA:100075
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hypochromic microcytic anemia, Vomiting, Hyperalaninemia, Hypothyroidis...	OMIM:619147
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Dec...	OMIM:619750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Dysphagia	OMIM:613561
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast...	ORPHA:2575
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R...	OMIM:300842
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Increased mean platelet volume, Splenomegaly, Abnormality of the p...	OMIM:222470
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hypoalbuminemia, Hepatic steatosis, Pancreatitis	OMIM:618805
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Interstitial Lung And Liver Disease	Hepatic steatosis, Hepatomegaly, Hyperammonemia, Cholestasis, Vomiting, Hepatic fibrosis, Cirrhos...	OMIM:615486
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Gastroesophage...	OMIM:249270
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver dis...	ORPHA:440713
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasi...	ORPHA:99147
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre...	ORPHA:75233
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst...	OMIM:236270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Sple...	ORPHA:79277
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Hyperhomocystinemia, Megaloblastic anemia	OMIM:250940
Nephronophthisis	Anemia	ORPHA:655
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Diarrhea, Hypochromic microcytic anemia, Vomiting, ...	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Constipation, Decre...	OMIM:618885
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration, Decreased serum i...	ORPHA:89842
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell coun...	ORPHA:3261
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, ...	OMIM:619013
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Cholelithiasis, Cirrhosis, Microcytic anemia	ORPHA:79278
Oculocerebral Hypopigmentation Syndrome, Preus Type	High palate, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Infantile Liver Failure Syndrome 1	Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia	OMIM:615438
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici...	ORPHA:2905
Diamond-Blackfan Anemia 6	Macrocytic anemia, Cleft palate, Persistence of hemoglobin F, Increased mean corpuscular volume, ...	OMIM:612561
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepatomegaly, Acanth...	ORPHA:14
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Hepatocellular ...	ORPHA:101330
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hyperammonemia	ORPHA:664
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hy...	ORPHA:172
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Diarrhea, Jaundice, Lipid accumulation in hepatoc...	ORPHA:20
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody level, Leukop...	ORPHA:33355
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Dermatitis Herpetiformis	Malabsorption, Microcytic anemia	ORPHA:1656
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma...	ORPHA:447
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Furrowed tongue, Hamar...	ORPHA:2930
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Villous atrophy, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism,...	OMIM:212065
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Erythroid hypoplasia, Reticuloc...	ORPHA:124
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Gastroesopha...	OMIM:614857
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Malabsorption, Thrombocytop...	ORPHA:3260
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Diarrhea, T lymphocytopenia, Inflammation of the large intestine, B ...	OMIM:618108
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Vomiting,...	OMIM:257200
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Dysphagia, Hyp...	OMIM:222300
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, L...	OMIM:619164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Spherocytosis, High palate, Hypogo...	ORPHA:251066
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation	ORPHA:160148
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Vipoma	Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcin...	ORPHA:97282
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Diarrhea, Hyperammonemia, Vomiting, Hyperuricemia, Thrombocytosis	ORPHA:134
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Acatalasemia	Type I diabetes mellitus, Type II diabetes mellitus, Microcytic anemia	ORPHA:926
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate, Persistence of...	OMIM:105650
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar...	ORPHA:199299
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Hepatomegaly, Pancreatic fibrosis, Malabsorp...	OMIM:557000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Diarrhea, Decreased circulating antibody level,...	ORPHA:90045
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e...	OMIM:263400
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Elevated circulating C-re...	ORPHA:1304
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Anemia, Chronic constipation, Blood...	ORPHA:209964
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A...	OMIM:616100
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids, Gastroesophageal reflux, ...	OMIM:619769
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normochromic microcytic anemia, ...	ORPHA:66634
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Absent circulating...	OMIM:620282
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Immunodeficiency 96	Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ...	OMIM:619774
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	High palate, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver...	ORPHA:2169
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni...	OMIM:616740
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia, Delayed puberty	OMIM:208060
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest...	ORPHA:261584
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Diarrhea, Jaundice, Esop...	ORPHA:75234
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Hamamy Syndrome	Hypoparathyroidism, High palate, Hypochromic anemia, Microcytic anemia	OMIM:611174
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla...	OMIM:105600
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Tracheoesophageal fistu...	OMIM:277380
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, De...	ORPHA:381
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Iron deficiency anemia, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Familial Melanoma	Neoplasm of the pancreas, Neoplasm of the stomach	ORPHA:618
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Dietary Iron Overload Disease	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Viral hepatitis, Increased circulating ferrit...	ORPHA:139507
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L...	OMIM:603554
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Gastrointestinal infarctions, Liver abscess	ORPHA:2038
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph...	OMIM:619463
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy, Increased cir...	OMIM:618495
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hyperlipidemia, Hypothyroidism, Gastroesophageal reflux, Hypoalbuminemia, Hypop...	OMIM:256300
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Sandifer Syndrome	Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia	ORPHA:71272
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Cleft palate, Macrocytic anemia, Granulocytopenia, Bifid uvula	OMIM:606164
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-...	OMIM:175500
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid...	ORPHA:227982
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Congenital Disorder Of Glycosylation, Type Iq	Dysphagia, Microcytic anemia	OMIM:612379
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga...	OMIM:250250
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Hypergalactosemia	OMIM:230350
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Amme Complex	Elliptocytosis	OMIM:300194
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Gastroesophageal reflux, Elevated circulating creatine kinase concentrati...	OMIM:612073
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, High p...	ORPHA:46059
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, High palate, Steatorrhea, Hyperechogenic ...	OMIM:617941
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Increased circulating IgE leve...	OMIM:304790
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic...	OMIM:214900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Macroglossi...	OMIM:301040
Fg Syndrome 3	Pyloric stenosis, Chronic constipation, Cryptorchidism	OMIM:300406
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Diamond-Blackfan Anemia 7	Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia	OMIM:612562
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, Abnormal circulating selenium concentration, Gastrointestinal inflammation, Iron de...	ORPHA:79408
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia, Anemia	ORPHA:2668
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Hypogonadism, Dysphagia, Hypothyroidism	ORPHA:98673
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95513
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Panhypogammaglobulinemia	OMIM:269840
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Bloody diarrhea, Leukopenia, Hyp...	ORPHA:99826
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis	OMIM:614262
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test, Microcytic anemia	ORPHA:324737
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia	OMIM:255125
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Macroglossia...	OMIM:251900
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis	OMIM:226700
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Splenomegaly, Increased mean corpuscular h...	ORPHA:90041
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,...	ORPHA:2785
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM...	OMIM:618394
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea,...	OMIM:614602
Monosomy 22	High palate, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of neutrophils, Malabso...	ORPHA:33226
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Elevated maternal serum alpha-fetoprotein, Congenital p...	OMIM:226730
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Acanthocytosis	OMIM:618947
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia	ORPHA:510
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Splenomegaly, Increased...	ORPHA:540
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Hernia, Hiatus	Hiatus hernia	OMIM:142400
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentratio...	ORPHA:90362
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ...	OMIM:239200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:54251
Periventricular Nodular Heterotopia	Pyloric stenosis, Gastroesophageal reflux	ORPHA:98892
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Lymphadenopathy, B...	OMIM:150550
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c...	OMIM:250790
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis, Elevated circulating creatine kinase concentration	OMIM:616924
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop...	OMIM:615387
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Cleft palate, Elevated circulating palmitoleylcarnitine ...	ORPHA:79284
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate	ORPHA:314575
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Vomiting, Hepatic steatosis, ...	OMIM:277900
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Lymphadeno...	ORPHA:39041
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes...	OMIM:614700
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Gastric ulcer, Constipation, Hypog...	ORPHA:3463
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Diamond-Blackfan Anemia 10	Macrocytic anemia, Reticulocytopenia, Cleft palate, Steroid-responsive anemia, Anemia	OMIM:613309
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hepatic steatosis, Hypergonadotropic hypogonadism, Microcytic anemia, I...	ORPHA:2959
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Elevat...	ORPHA:247691
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Abcd Syndrome	Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis	OMIM:600501
Wolfram Syndrome 2	Diabetes mellitus, Gastric ulcer	OMIM:604928
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Diarrhea, Delayed puberty, Hypermagnesemia, Iron def...	ORPHA:358
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, High palate, Increased circulating antibody level, Prolonged ...	OMIM:170100
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Decr...	ORPHA:99867
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hypocalc...	OMIM:612526
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Malabsorption, Microcytic anemia, Hepatosplenomegaly, Ly...	ORPHA:168569
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Ane...	OMIM:260400
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Diarrhea, Thymoma,...	ORPHA:169105
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Primary adrenal insufficiency	OMIM:530000
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Reduced C-peptide level, Diabetic ketoacidosis, Elevated hemoglobin A1c	OMIM:618858
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Malabsorption	ORPHA:42642
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis	OMIM:610198
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia	OMIM:254900
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ...	ORPHA:587
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i...	OMIM:602347
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Decreased ...	OMIM:620210
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, Abnormal circulating osteocalcin level, High palate	ORPHA:93315
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-n...	OMIM:607594
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hyp...	ORPHA:95409
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Intrahepatic cholestasis, In...	OMIM:601847
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Isolated Agammaglobulinemia	Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Diarrhea, Abnormal lymphocyte morpho...	ORPHA:229717
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis	OMIM:617219
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Tarp Syndrome	Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue no...	ORPHA:2886
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Chr...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Diarrhea, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoal...	OMIM:608104
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Lesch-Nyhan Syndrome	Megaloblastic anemia, Vomiting, Hyperuricemia, Dysphagia, Testicular atrophy	OMIM:300322
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea...	ORPHA:905
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, M...	ORPHA:3452
Degcags Syndrome	Hepatomegaly, Pancytopenia, Jejunal atresia, Congenital hypoplastic anemia, Protruding tongue, Py...	OMIM:619488
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ...	OMIM:617591
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Recurrent aphthous stomatitis, Delayed puberty, Anemia	ORPHA:575
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, High palate, Thrombocytopenia, Dysphagia	ORPHA:261250
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Decreased serum zinc, Hypogonadis...	OMIM:201100
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diabetes Mellitus, Transient Neonatal, 3	Reduced C-peptide level, Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes ...	OMIM:610582
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Diabetes insipidus, Prolonged neonatal...	ORPHA:423479
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Microcytic anemia, Insulin-resistant diabetes mellitus, Delayed pu...	ORPHA:293967
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:91355
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon...	ORPHA:298
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pyloric ste...	ORPHA:379
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Precocious puberty, Pyloric stenosis, Cryptorchidism, Cleft...	ORPHA:96184
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Anemia	OMIM:611489
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Submucous cleft hard palate, Elliptocytosis, Bifid uvula, Anemia	OMIM:300990
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A...	ORPHA:160
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Gastroesophageal reflux, Hypogonadism, Esoph...	ORPHA:79351
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Intrah...	OMIM:607765
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Decre...	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f...	OMIM:614576
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab...	ORPHA:47612
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Lead Poisoning	Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s...	ORPHA:330015
Orthostatic Hypotension 2	Anemia	OMIM:618182
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Constipation, Diabetes mellitus, Hypothyroidism, Decreased serum iron	ORPHA:391372
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Lymphaden...	OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fibrosis, Esoph...	ORPHA:541423
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Ogden Syndrome	Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Jaundice, Narrow pal...	OMIM:300855
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia	OMIM:230900
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating alpha-fetoprote...	OMIM:276700
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Ste...	OMIM:235555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni...	ORPHA:906
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha...	ORPHA:774
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho...	OMIM:240300
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde...	ORPHA:512
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Macroglossia, Gastroesophageal reflux, Constipation, ...	ORPHA:847
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil...	OMIM:301068
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Hydatidiform Mole	Hyperthyroidism, Anemia	ORPHA:99927
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Splenomegaly, Mediastinal...	ORPHA:809
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, Nausea, He...	ORPHA:53035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo...	OMIM:615577
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T...	OMIM:600901
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Chromosome 15Q25 Deletion Syndrome	Cleft palate, Macrocytic anemia, Polysplenia	OMIM:614294
Eisenmenger Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemi...	ORPHA:97214
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc...	ORPHA:2796
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever...	OMIM:102700
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T...	OMIM:227650
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Microcytic anemia, Protruding tongue, Abnormal isohemagglutinin level...	ORPHA:99843
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG le...	OMIM:612301
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Neurodegeneration With Brain Iron Accumulation 1	Dysphagia, Acanthocytosis	OMIM:234200
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Anemia, Constipation, Dysphagia, Abnorm...	OMIM:226600
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc...	ORPHA:98850
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Macroglossia, Increased circulating IgM level, Hy...	OMIM:617303
Oligodontia-Colorectal Cancer Syndrome	Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer	OMIM:608615
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ...	ORPHA:829
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Constipation, High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Splenomegaly, Multiple gastric polyps, Prolonged neonatal jaund...	OMIM:225750
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lympha...	OMIM:616005
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Bone marrow hypocellular...	OMIM:227645
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Esophageal atresia, Annular pancreas, Reticulocytop...	OMIM:227646
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Dysphagia	OMIM:619461
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Mildly elevated creatine kinase, Cryptorchidism	ORPHA:169189
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Splenomegaly, Chronic diarrhea, Cirrhosis, Recurrent infection of the gastrointesti...	OMIM:613489
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormal...	ORPHA:2538
Trisomy 18P	Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis	ORPHA:1715
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Diarrhea...	ORPHA:139411
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia...	OMIM:613812
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Protracted diarrhea...	ORPHA:67
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato...	OMIM:619418
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosi...	OMIM:615846
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Cryptorchidism	OMIM:218350
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ...	ORPHA:2137
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Diarrhea...	OMIM:222700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Congenital Disorder Of Glycosylation, Type Iiw	Hepatic steatosis, Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echog...	OMIM:619525
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni...	ORPHA:935
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Johanson-Blizzard Syndrome	Diabetes mellitus, Malabsorption, Anteriorly placed anus, Anemia, Hypoproteinemia, Anal atresia, ...	ORPHA:2315
Adams-Oliver Syndrome 6	Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:616589
Icf Syndrome	Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossia, Lymphopenia, Anemia	ORPHA:2268
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stri...	OMIM:617053
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Elevate...	OMIM:263700
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Pyloric stenosis, Abdominal adhesions, Neutropenia,...	OMIM:616395
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Chronic diarrhea, H...	OMIM:613385
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly	ORPHA:2414
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology	ORPHA:209981
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Pediatric-Onset Graves Disease	Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In...	ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Parotitis, Elevated ...	OMIM:256040
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Macroglossia, Protein-losing enteropathy, Hypocalcemia...	OMIM:618440
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Graves disease, Abnormal circ...	ORPHA:542643
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Ascites, Thrombo...	OMIM:608013
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Protruding tongue, Abnormal ery...	ORPHA:2388
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Diarrhea, Constipation	ORPHA:99745
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh...	OMIM:619849
Doors Syndrome	Adrenal hyperplasia, Narrow palate, Cleft palate, Congenital hypothyroidism, High palate, Gastroe...	ORPHA:79500
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric stenosis, Splen...	OMIM:613327
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, High palate, Cryptorchidism	OMIM:310400
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Jaundice, High palate, Thrombocytopenia	OMIM:251290
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Diabetes mellitus, Abnormality of ne...	ORPHA:1775
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Elevated ci...	ORPHA:50918
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Elevated circulating creatine kinase concentration, Congenital pyloric atresia	ORPHA:158684
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, ...	OMIM:193300
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp...	ORPHA:247806
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Hyperh...	ORPHA:79282
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp...	OMIM:235255
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Diarrhea, Lymphadenopathy, Achalasia	ORPHA:3386
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the...	ORPHA:438213
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S...	OMIM:257220
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Xerostomia, Thyroiditis, Biliary cirrhosi...	ORPHA:289390
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r...	ORPHA:79083
Legionnaires Disease	Hyponatremia, Splenomegaly, Diarrhea, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellu...	ORPHA:549
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p...	ORPHA:77261
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop...	ORPHA:91138
Williams Syndrome	Colonic diverticula, Hypogonadotropic hypogonadism, Peptic ulcer, Hypercalcemia, Malabsorption, E...	ORPHA:904
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy	OMIM:616028
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Anem...	OMIM:620358
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Multiple small me...	OMIM:263200
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Pancre...	OMIM:232220
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly	ORPHA:85414
Q Fever	Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o...	ORPHA:781
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, ...	ORPHA:567983
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, Multiple small medu...	OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Increased circulating NT-proBNP concentration, Anemia	ORPHA:85451
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the panc...	ORPHA:93111
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adrenocortical carcinom...	ORPHA:79665
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ...	ORPHA:1199
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, High palate, Lymphopenia	OMIM:605309
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, A...	ORPHA:171
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, ...	ORPHA:30391
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Chronic diarrhea, Diar...	OMIM:260920
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Hepatosplenomegaly, Lactescent serum, Vomit...	OMIM:238600
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia	OMIM:230600
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonatal j...	OMIM:607625
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intestinal malrotation	ORPHA:3035
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate	ORPHA:261197
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Increased fecal por...	ORPHA:95159
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:612852
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyposis, Multiple gastric pol...	OMIM:175100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Anem...	ORPHA:2072
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Zollinger-Ellison syndrome, ...	OMIM:248700
Zellweger Syndrome	Multicystic kidney dysplasia, Malabsorption, Cryptorchidism, Pyloric stenosis, Primary adrenal in...	ORPHA:912
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Splenomegaly, Leuk...	ORPHA:32960
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis,...	OMIM:613471
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Ulnar-Mammary Syndrome	Pyloric stenosis, Cryptorchidism, Ectopic anus, Breast aplasia, Hypoplastic nipples, Delayed pube...	ORPHA:3138
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast...	ORPHA:93932
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Pyloric stenosis, Midgut malrotation, Cryptorchidism, Cleft palate	OMIM:263750
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Midgut malrotation, High, narrow palate, Pyloric stenosis, Cleft palate	ORPHA:2409
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Diarrhea, Hepatomegaly	OMIM:601979
Hennekam Syndrome	Malabsorption, Pyloric stenosis, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating ...	ORPHA:2136
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	ORPHA:435934
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	OMIM:617395
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s...	ORPHA:733
Knobloch Syndrome 2	Pyloric stenosis, Chronic constipation	OMIM:618458
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate	ORPHA:457279
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, High palate, Hypocalcemia, Gastroesophageal ...	OMIM:617913
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Gaucher Disease	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:355
Zygomycosis	Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Hematemesis, Diarrhea, Peritonitis, En...	ORPHA:73263
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg...	ORPHA:729
Ethylene Glycol Poisoning	Gastritis, Hyperkalemia, Vomiting, Hypocalcemia, Nausea	ORPHA:31826
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyr...	OMIM:188400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Hematochezia, Hamartomatous polyposis, Gastrointestinal carc...	OMIM:175050
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis, Cryptorchidism	OMIM:614438
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Kleefstra Syndrome	Bowel incontinence, Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Renal cyst, Macroglos...	ORPHA:261494
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Opitz-Kaveggia Syndrome	Anal stenosis, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft pal...	OMIM:305450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru...	OMIM:617093
Familial Mediterranean Fever	Intestinal obstruction, Malabsorption, Splenomegaly, Diarrhea, Peritonitis, Pancreatitis, Lymphad...	ORPHA:342
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Constipation, Microcolon	ORPHA:163746
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, ...	ORPHA:2308
Cornelia De Lange Syndrome 1	Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cleft palate, Renal c...	OMIM:122470
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca...	ORPHA:116
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux,...	OMIM:613177
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Pyloric stenosis, Elevated circ...	OMIM:618419
Jacobsen Syndrome	Pyloric stenosis, Annular pancreas, Thrombocytopenia	OMIM:147791
Camurati-Engelmann Disease	Hepatomegaly, Splenomegaly, Leukopenia, Hypogonadism, Delayed puberty, Anemia	ORPHA:1328
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Blau Syndrome	Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp...	ORPHA:90340
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	OMIM:608594
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Spleno...	OMIM:181000
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Renal cyst, Gastroesophageal ref...	ORPHA:464306
Frontometaphyseal Dysplasia 2	Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, High...	OMIM:617137
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Knobloch Syndrome	Pyloric stenosis	ORPHA:1571
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration	ORPHA:468699
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Hematemesis, Tongue telangiectasia, Gastrointestinal angiodys...	OMIM:600376
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Celiac disease, Chronic gastritis, Diabetes mellitus	ORPHA:183675
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi...	OMIM:304150
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft palate, Gastric ulcer, High palate,...	OMIM:135900
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatomegaly	OMIM:612132
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Telangiectasia, Hereditary Hemorrhagic, Type 1	Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Hematemesis, Tongue telangiectas...	OMIM:187300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, Cleft palate, Decr...	ORPHA:83617
Ulnar-Mammary Syndrome	Anal stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric stenosis, Hypo...	OMIM:181450
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Small bowel diverticula	ORPHA:90349
Acute Transverse Myelitis	Paralytic ileus, Constipation, Decreased circulating copper concentration, Gastroparesis	ORPHA:139417
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatomegaly, Diabetes mellitus, Increased VLDL cholesterol concentration, M...	OMIM:243800
Mowat-Wilson Syndrome	Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Submucous cleft ha...	OMIM:235730
Wrinkly Skin Syndrome	High palate, High nonceruloplasmin-bound serum copper	ORPHA:2834

Histopathology

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

There is no histopathology data for Atp4a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp4a.

No publications found that use IMPC mice or data for Atp4a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Atp4a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Atp4a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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