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Gene: Flvcr1 MGI:2444881

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

feline leukemia virus subgroup C cellular receptor 1

Synonyms:

Mfsd7b, 9630055N22Rik

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 Flvcr1 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 Flvcr1 (2 diseases)
Human diseases predicted to be associated with Flvcr1 (788 diseases)

The table below shows human diseases associated to Flvcr1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Posterior Column Ataxia With Retinitis Pigmentosa		Flexion contracture of finger, Joint contracture of the hand, Camptodactyly	OMIM:609033
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome		Flexion contracture of finger, Camptodactyly	ORPHA:88628

The table below shows human diseases predicted to be associated to Flvcr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange...	OMIM:615550
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Syndactyly, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Syndactyly, Hepatomegaly, Anemia of inadequate production, Ani...	OMIM:224120
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El...	ORPHA:300298
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Infantile Liver Failure Syndrome 1	Long toe, Hepatomegaly, Macrocytic anemia, Long fingers, Hepatic steatosis, Anemia	OMIM:615438
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Anemia, Hepatosplenomegaly	OMIM:273680
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Phosphoglycerate Dehydrogenase Deficiency	Adducted thumb, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Mitral valve ...	OMIM:612561
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Fanconi Anemia, Complementation Group E	Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol...	OMIM:600901
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopeni...	ORPHA:508542
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia	ORPHA:27
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Fanconi Anemia, Complementation Group A	Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol...	OMIM:227650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis, Anemia	OMIM:617408
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se...	ORPHA:124
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Ulnar deviation of th...	OMIM:194350
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Reticulocytope...	OMIM:227645
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Cardiomyopathy	OMIM:619046
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Ethanolaminosis	Cardiomegaly	OMIM:227150
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Nephronophthisis	Anemia	ORPHA:655
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplic...	OMIM:227646
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Birk-Aharoni Syndrome	Macrocytic anemia, Muscular ventricular septal defect	OMIM:620071
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro...	OMIM:610539
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia	ORPHA:295
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Thrombocytosis	OMIM:604416
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short 5th metacarpal	ORPHA:66518
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Diamond-Blackfan Anemia 7	Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d...	OMIM:612562
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Limited mobility of proximal interphalangeal joint, C...	OMIM:222300
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular...	ORPHA:2169
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb...	OMIM:616435
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Hyperlysinemia, Type I	Anemia	OMIM:238700
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis	OMIM:300752
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph...	OMIM:250250
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bicuspid aortic valve, Anemia of inadequate production, Absent thumb, Uni...	OMIM:614900
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Abnormal metaphysis morphology, Hepatomegaly	ORPHA:417
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger, Anemia	OMIM:165660
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Anemia, Talipes equinovarus, Neut...	OMIM:277380
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f...	OMIM:616738
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, ...	OMIM:209950
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys...	ORPHA:811
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormality of th...	ORPHA:337
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Long fingers, Coronary artery fistula...	OMIM:614294
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Sandal gap, Anemia	ORPHA:1046
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Cirrhosis, Atrial septal defect, Thrombocy...	ORPHA:101028
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect	OMIM:223350
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis	OMIM:618805
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Macrocytic anemia	ORPHA:98673
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Metaphyseal irregularity	OMIM:269920
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:613561
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ...	ORPHA:231214
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Leukopenia, Clinodactyl...	ORPHA:108
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Splenomegaly, Abnormal limb bone morphology, Hepatomegaly	ORPHA:2204
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Arachnodactyly, Hepatic steatosis, Microcytic anemia	OMIM:619013
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Microcytic anemia	OMIM:618811
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Microcytic anemia	ORPHA:79278
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
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Bone Marrow Failure Syndrome 4	Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary insufficiency, Abnormal cartilage matrix	OMIM:245650
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic bridging fibrosis	OMIM:616719
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab...	ORPHA:290
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Neutropenia, Megaloblastic ...	ORPHA:79284
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Cubitus valgus, Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia	OMIM:619750
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Long thumb, Thrombocytop...	OMIM:619151
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227990
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Erlenmeye...	OMIM:230800
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Clubbing of fingers, Bone marrow hypo...	OMIM:614742
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227982
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Roifman Syndrome	Hepatomegaly, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Single t...	OMIM:616651
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat...	ORPHA:398124
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Isolated Agammaglobulinemia	Abnormality of the tonsils, Clinodactyly of the 5th toe, Abnormality of neutrophils, Thrombocytop...	ORPHA:229717
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepa...	OMIM:616589
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hypochromic anemi...	OMIM:600462
Hemochromatosis, Type 3	Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Thrombocytosis, Intestinal l...	OMIM:226300
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Reticular Dysgenesis	Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils	ORPHA:33355
Orthostatic Hypotension 2	Anemia	OMIM:618182
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul...	OMIM:228000
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Stillbirt...	OMIM:256050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Li...	OMIM:300280
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Upper limb asymmetry, Abnormal tricuspid valve morphology, Atria...	ORPHA:90308
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta...	ORPHA:39041
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Wilson Disease	Hepatomegaly, Abnormality of the hand, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acut...	ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hepatitis, Eosinophilia	ORPHA:199299
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Short Stature, Brussels Type	Microretrognathia, Calcification of cartilage	ORPHA:2867
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis	OMIM:602390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, HbH hemoglobin, Talipes equinovarus, Microcytic anemia	ORPHA:98791
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Normochro...	OMIM:610198
Intermediate Osteopetrosis	Thrombocytopenia, Erlenmeyer flask deformity of the femurs, Anemia, Hepatosplenomegaly	ORPHA:210110
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As...	OMIM:235200
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Gen...	OMIM:259710
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Adams-Oliver Syndrome 5	Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Right ...	OMIM:616028
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Familial Benign Copper Deficiency	Diaphyseal thickening, Anemia	ORPHA:1551
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Adducted thumb, Megaloblastic anemia	ORPHA:79351
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia...	ORPHA:77259
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Lethal Kniest-Like Dysplasia	Edema, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Abnormal cartilage morphology, Flare...	ORPHA:2347
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Metaphy...	OMIM:617941
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Lesch-Nyhan Syndrome	Megaloblastic anemia	OMIM:300322
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Moderate Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorrh...	ORPHA:169805
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia	OMIM:617591
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Acatalasemia	Microcytic anemia	ORPHA:926
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N...	ORPHA:47612
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, T...	OMIM:259700
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Anemia, Tapered finger	ORPHA:2930
Kaposiform Lymphangiomatosis	Abnormal humerus morphology, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of...	ORPHA:464329
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Areflexia of upper limbs, Splenomegaly, Dilated cardiomyopathy, Car...	OMIM:300842
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ...	OMIM:610377
Srd5A3-Cdg	Palmoplantar keratoderma, Microcytic anemia	ORPHA:324737
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Mulibrey Nanism	Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con...	OMIM:253250
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion...	OMIM:239850
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped ep...	OMIM:615630
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Metaphyseal sclerosis, M...	OMIM:260400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Abnormal heart morphology, Neutropenia, T...	ORPHA:79282
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, ...	ORPHA:1667
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Hydatidiform Mole	Anemia	ORPHA:99927
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Barth Syndrome	Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Endocardial fibroelast...	OMIM:302060
Muckle-Wells Syndrome	Splenomegaly, Camptodactyly of finger, Anemia, Hepatomegaly	ORPHA:575
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Diaphyseal sclerosis, Anemia, Hepatosplenomegaly	OMIM:259730
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Sézary Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyte morpho...	ORPHA:3162
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormality of the epiphysis of the femoral head, Splenomegaly, Jaundice, Cholestas...	OMIM:618641
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Hepatomegaly	OMIM:607906
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia	OMIM:170100
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Bowing of the legs	ORPHA:89937
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Single transverse palmar crease, Intermittent thrombocytopenia, Se...	OMIM:612541
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Erythroid hypoplasia, S...	OMIM:620072
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Abnormality of the palmar creases, Atrial septal defect,...	OMIM:618652
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis...	ORPHA:829
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombocytopenia	OMIM:608013
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel...	OMIM:212140
Familial Calcium Pyrophosphate Deposition	Joint swelling, Calcification of cartilage	ORPHA:1416
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperker...	OMIM:617388
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Pericarditis, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Hypoplasia of the thym...	OMIM:617022
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Radial dysplasia, Anemia, Absent thumb	OMIM:617244
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Portal hypertens...	ORPHA:465508
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Pulmonic stenosis, Hypochromic anemia, Aortic valve stenosis	ORPHA:99147
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph...	OMIM:603553
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha...	ORPHA:540
Hamamy Syndrome	Long toe, Syndactyly, Atrial septal defect, Microcytic anemia, Tapered finger, Long fingers, Comp...	OMIM:611174
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal fibula morphology, Tibial bowing,...	ORPHA:3035
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Flared meta...	OMIM:259720
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Kearns-Sayre Syndrome	Sideroblastic anemia, Cardiomyopathy	OMIM:530000
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Avascular necrosis of the capital f...	ORPHA:247691
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertroph...	ORPHA:79330
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Overlapping toe, Broad hallux, Microcytic anemia, Genu valgum, Contracture of the proximal interp...	ORPHA:293967
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Ventricular septal defect, Decreased fibular diameter, Cardiomegal...	OMIM:616897
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Cholestasis, Lym...	OMIM:615895
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Rocker bottom foot, Acanthocytosis, Elbow flexion contracture, Hammertoe, Tali...	OMIM:618947
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Clubbing, Hepatomegaly	OMIM:612387
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the...	OMIM:208540
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Metaphyseal irregularity, Anemia, Hepatomegaly	OMIM:239200
H Syndrome	Hallux valgus, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Camptodactyly, Enlarged ki...	ORPHA:168569
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Polyhydramnios, Facial edema, Abnormal cartilage matrix, Talipes equinovarus, S...	ORPHA:86822
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Micromelia, Splenomegaly, Flared metaphysis, Coxa vara, Short femoral neck, Limb un...	OMIM:602557
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Iron deficiency anemia, Small hand, Short foot	OMIM:618885
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Keutel Syndrome	Recurrent sinusitis, Pulmonary arterial hypertension, Calcification of cartilage, Short distal ph...	ORPHA:85202
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Anemia	OMIM:608068
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe...	OMIM:274000
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Spherocytosis, Mitral valve prolapse, Talipes equinovarus, Atrial...	ORPHA:251066
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Kniest Dysplasia	Rhizomelia, Dumbbell-shaped long bone, Flared metaphysis, Coxa vara, Tibial bowing, Abnormal cart...	OMIM:156550
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dilated cardiomyopathy, Hyp...	ORPHA:66634
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Short distal p...	ORPHA:2959
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Hypochromic ...	ORPHA:96123
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve...	ORPHA:324410
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Enlarged ...	ORPHA:93284
Addison Disease	Normocytic anemia, Thiamine-responsive megaloblastic anemia, Thymoma	ORPHA:85138
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Dislocated radia...	OMIM:245600
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	ORPHA:42
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess, Clubbing, Bacterial endocarditis	ORPHA:2038
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide distal femoral metaphysis, Metaphyseal cupping, Micromelia, Cardiomegaly	OMIM:613320
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Talipes equinovaru...	ORPHA:14
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr...	ORPHA:699
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Clubbing, Biliary tract abnormality, Iron deficiency a...	OMIM:175200
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	OMIM:255120
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Overlapping toe, Microcytic anemia, Leukocytosis, Broad palm, Limb un...	ORPHA:99843
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Femur fracture, Anemia, Hepatomegaly	OMIM:612301
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg...	ORPHA:1517
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Cardiomegaly	OMIM:266500
Interstitial Lung And Liver Disease	Hepatomegaly, Clubbing, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic steatos...	OMIM:615486
Craniofaciofrontodigital Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:363705
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Anemia	OMIM:619147
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Cardiomegaly, Thin metatarsal c...	ORPHA:2463
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Tapered toe, Tapered finger, Cardiomegaly, Long fingers, Dilated cardiomy...	OMIM:608836
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Hypoch...	OMIM:301040
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Ascites, Anemia	OMIM:617300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat...	OMIM:615688
Nephronophthisis 4	Anemia	OMIM:606966
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, Splenomega...	OMIM:256040
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia	ORPHA:935
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
Fucosidosis	Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolated lymphocytes	OMIM:230000
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly, Abnormal morphology of ul...	ORPHA:1328
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Joint contracture of the ...	OMIM:263700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Generalized lymphadenopa...	ORPHA:3260
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega...	OMIM:618143
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Multiple Osteochondromas	Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal morphology of ulna, Coxa va...	ORPHA:321
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Increased hepat...	OMIM:619525
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Sandal gap, Macrodactyly	OMIM:612918
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper limb undergrowth, C...	ORPHA:93315
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Metaphyseal widening, Split hand, Bullet-sh...	OMIM:252500
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:232300
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thumb, Atrial sept...	ORPHA:84
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s...	ORPHA:100078
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pancreatic islet-cell hyperplasia, Cirrh...	OMIM:276700
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, L...	ORPHA:50918
Alkaptonuria	Myocardial infarction, Cartilage destruction, Hypertension, Joint swelling, Calcification of cart...	ORPHA:56
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97282
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ...	ORPHA:268
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis	ORPHA:774
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus, Cardiomegaly	OMIM:620306
Adenohypophysitis	Normochromic anemia	ORPHA:95512
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Ogden Syndrome	Atrial septal defect, Sandal gap, Broad hallux, Left atrial enlargement, Metatarsus valgus, Cardi...	OMIM:300855
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Kniest Dysplasia	Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, Metaphyseal widening...	ORPHA:485
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Syndactyly, Hepat...	OMIM:619488
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Panhypophysitis	Normochromic anemia	ORPHA:95513
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Mucopolysaccharidosis Type 3	Hepatomegaly, Adenoiditis, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Car...	ORPHA:581
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Pituitary Apoplexy	Normochromic anemia	ORPHA:95613
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Aortic valve stenosis, Abnormal cartilage morphology, Pulmonary arteri...	ORPHA:2396
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Lympha...	ORPHA:667
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Ventricular septal hyper...	OMIM:269700
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Clubbing, Tetralogy of Fallot, Hypochromic microcytic an...	ORPHA:97214
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Clubbing, Anemia, Mitral valve prolapse	OMIM:175050
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy...	ORPHA:97283
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology...	ORPHA:228308
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Reactive Arthritis	Cartilage destruction, Joint swelling, Pericarditis, Aortic regurgitation	ORPHA:29207
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Sheehan Syndrome	Normochromic anemia	ORPHA:91355
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Palmar telangiectasia, Lymp...	OMIM:613471
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor...	ORPHA:3472
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia	ORPHA:49041
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Fixed elbow flex...	ORPHA:97297
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Jaundice, Neutrophilia in presence of infection, Lymp...	ORPHA:99826
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Acute Adrenal Insufficiency	Normocytic anemia	ORPHA:95409
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia, Single transverse palmar crease	ORPHA:261584
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypertrop...	ORPHA:116
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome...	OMIM:300967
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Iron deficiency anemia, Palmoplantar keratoderma, Mitten deformity, Anemia	ORPHA:79408
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Arachnodactyly, Cardiomegaly	ORPHA:91387
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Micromelia, Micrognathia, Bowing of the legs, Metatarsus adductus, Flared metap...	OMIM:271665
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla, Absent nasal septal cartilage	OMIM:157170
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Enlarged kidney	OMIM:130650
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Cardiomegaly, Aortic...	OMIM:182250
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Gitelman Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Pericardial effusion	ORPHA:358
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Williams Syndrome	Hallux valgus, Abnormal endocardium morphology, Atrial septal defect, Overriding aorta, Bicuspid ...	ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca...	ORPHA:51608
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand polydactyly, Cleft of chin,...	OMIM:113620
Posterior Column Ataxia With Retinitis Pigmentosa	Flexion contracture of finger, Joint contracture of the hand, Camptodactyly	OMIM:609033
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Camptodactyly	ORPHA:88628

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 Flvcr1

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 Flvcr1.

No publications found that use IMPC mice or data for Flvcr1.

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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
Flvcr1^{tm271619(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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