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Gene: Hbb-b1 MGI:96021

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

hemoglobin, beta adult major chain

Synonyms:

beta major globin, beta maj, beta1, MommeD7

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 Hbb-b1 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 Hbb-b1 (18 diseases)
Human diseases predicted to be associated with Hbb-b1 (1266 diseases)

The table below shows human diseases associated to Hbb-b1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980

The table below shows human diseases predicted to be associated to Hbb-b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Microcytic anemia	ORPHA:79278
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia	OMIM:618805
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia	OMIM:619013
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Nephronophthisis	Anemia	ORPHA:655
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Acatalasemia	Microcytic anemia	ORPHA:926
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Hypochromic microcytic anemia, ...	OMIM:619632
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia	OMIM:619750
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Anemia	OMIM:619147
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper...	OMIM:600462
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hyperlysinemia, Type I	Anemia	OMIM:238700
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Infantile Liver Failure Syndrome 1	Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia	OMIM:615438
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Klippel-Trénaunay Syndrome	Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis	OMIM:610198
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Microvesicular hepatic steatosis, Hypochromic microcytic anemia	ORPHA:66634
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb...	ORPHA:46059
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro...	OMIM:226300
Mcleod Syndrome	Splenomegaly, Hepatomegaly, Acanthocytosis	OMIM:300842
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate, Weakness of facial musculature, Neonatal respiratory distress, Increased...	OMIM:619062
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly	OMIM:613561
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Increased level of galac...	OMIM:230400
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased serum lactate, Ragged-red muscle fibers, Proxi...	ORPHA:457050
Malignant Hyperthermia, Susceptibility To, 4	Acidosis, Rhabdomyolysis	OMIM:600467
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Chylomicron Retention Disease	Increased hepatocellular lipid droplets, Hepatic steatosis, Acanthocytosis	ORPHA:71
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis, Increased serum lactate, Metabolic acidosis, Myopathy, Lactic aci...	ORPHA:91130
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Hepatomegaly	OMIM:607906
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Amme Complex	Elliptocytosis	OMIM:300194
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno...	OMIM:304790
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facia...	OMIM:616209
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ...	ORPHA:1667
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia	ORPHA:293967
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy...	ORPHA:97283
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Orthostatic Hypotension 2	Anemia	OMIM:618182
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Acidosis, Methemoglobinemia	ORPHA:464453
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Oslam Syndrome	Anemia	OMIM:165660
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia	ORPHA:2959
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Histiocytosis	ORPHA:168569
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ...	OMIM:618213
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis, Anemia	OMIM:610090
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Ascites, Anemia	ORPHA:2123
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Acanthocytosis	OMIM:618947
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Decreased circulating Ig...	OMIM:212750
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Microcytic anemia, Abnormal isohemagglutinin level, Leukocytosis, Anemia	ORPHA:99843
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis	ORPHA:774
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Myasthenia Gravis	Hemolytic anemia, Abnormal thymus morphology, Hepatitis, Pure red cell aplasia	ORPHA:589
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Increased serum lactate, Ragged-r...	OMIM:500009
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Optic Atrophy 1	Pallor	OMIM:165500
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Hydatidiform Mole	Anemia	ORPHA:99927
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly	OMIM:620135
Myelofibrosis	Pallor, Purpura	OMIM:254450
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Increased...	ORPHA:37042
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi...	OMIM:614742
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Increased serum lactate, Ragged-red muscle fibers, Wea...	OMIM:617069
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased serum lactate, Respiratory insufficiency...	ORPHA:238329
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr...	OMIM:301074
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 6	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe...	OMIM:300816
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate	OMIM:618855
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch...	OMIM:619374
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hepa...	OMIM:619487
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, He...	ORPHA:905
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine...	OMIM:620010
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen...	OMIM:610377
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Biliary tract abnormality, Bile duct polyp	OMIM:175200
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hypomagnesemia, M...	ORPHA:699
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Increased hepatic echogenicity, ...	OMIM:619525
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:615816
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Abnormality of the liver, In...	ORPHA:97214
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen	ORPHA:251004
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Myopathy, Generalized limb muscle atrophy, Anemia	ORPHA:2598
Galactosemia Iii	Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly	OMIM:230350
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Combined Oxidative Phosphorylation Deficiency 28	Increased serum lactate, Respiratory failure, Ragged-red muscle fibers, Severe lactic acidosis	OMIM:616794
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D...	OMIM:615122
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum lactate, Myopathy, Ragged-red muscle fibers	OMIM:545000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho...	OMIM:617591
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:2930
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Muckle-Wells Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:575
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Methylmalonic acidemia, Pancytopenia, Anemia, Metabolic acidosis, Neutropen...	OMIM:251110
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia, Right ventricular hypertrophy	ORPHA:275766
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Autoimmune hemolytic anemia, Hypouricemia, Impaired ...	OMIM:613179
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h...	OMIM:613280
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ...	ORPHA:77259
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyto...	ORPHA:93552
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp...	ORPHA:2785
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Increased serum lactate	OMIM:617070
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Abcd Syndrome	Polycythemia	OMIM:600501
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased serum lactate, Skeletal muscle atrophy	OMIM:618244
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Increased serum lactate, Distal lower limb muscle weakness, Leg muscle stiffness	ORPHA:320360
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Increased circulating IgA level, Lym...	OMIM:256040
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidos...	OMIM:618228
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F...	OMIM:260400
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Methylmalonic acidemia, Pancytopenia, Anemia, Metabolic acidosis, Elevated ...	OMIM:251100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Cyanosis, Respiratory insufficiency	OMIM:610773
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphadenopathy, Anem...	ORPHA:540
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Neutropenia, Megaloblastic anemia	ORPHA:79284
Shwachman-Diamond Syndrome	Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute...	ORPHA:811
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Increase...	OMIM:615846
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an...	ORPHA:99867
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate	OMIM:615395
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Abnormality of the hepatic vasculature, Nodular regenerat...	ORPHA:247691
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ...	ORPHA:227990
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Generalized amyotrophy, Congenital lactic acidosis	OMIM:203740
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis, Muscular dystrophy	OMIM:204730
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Myopathy, Lactic acidosis, Apnea	OMIM:618236
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Shigellosis	Hyponatremia, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, Microangi...	ORPHA:810
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Sengers Syndrome	Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Myopathy, Pulmonary arterial...	OMIM:212350
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability...	OMIM:226670
Nephronophthisis 4	Anemia	OMIM:606966
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ...	ORPHA:227982
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Polysplenia	OMIM:614294
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Increased serum lactate, Thrombocytopenia, Respiratory insufficiency, Hypochloremic...	OMIM:613845
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Increased intramyocell...	OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis	OMIM:616719
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Tiglic Acidemia	Acidosis	OMIM:275190
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Increased serum lactate, Metabolic acidosis	OMIM:615158
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Anemia	OMIM:239200
Combined Oxidative Phosphorylation Deficiency 8	Lactic acidosis, Increased variability in muscle fiber diameter, Increased serum lactate, Metabol...	OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Respiratory failure requiring assisted ventilation, Lactic acidosis	OMIM:618776
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Lesch-Nyhan Syndrome	Megaloblastic anemia	OMIM:300322
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, ...	OMIM:616974
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly	ORPHA:95159
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Myopathy, Flexion contracture, Metabolic acidosis	OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Respiratory insufficiency, Metabolic ac...	OMIM:618247
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Immunodeficiency 22	Decreased circulating IgG level, Anemia, Decreased circulating total IgM, Decreased circulating I...	OMIM:615758
Sandifer Syndrome	Anemia	ORPHA:71272
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi...	OMIM:252011
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased serum lactate, Rhabdomyolysis, Ragged-red muscle fibers, Lactic acidosis, Weakness of f...	OMIM:618416
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Myopathy	ORPHA:408
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
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Respiratory insufficiency due to muscle weakness, Increased serum lactate, Ragged-red muscle fibe...	ORPHA:663
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Combined Oxidative Phosphorylation Deficiency 31	Increased serum lactate, Lactic acidosis, Left ventricular noncompaction, Increased intramyocellu...	OMIM:617228
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, He...	ORPHA:199299
Adenohypophysitis	Normochromic anemia	ORPHA:95512
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Nephronophthisis 1	Anemia	OMIM:256100
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Lactic acidosis, Myopathy, Increased serum lactate, Metabolic acidosis	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 45	Increased serum lactate	OMIM:618951
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Neonatal respiratory distress, Lactic acidosis, Metabolic acidos...	OMIM:619003
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate	OMIM:614055
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ...	ORPHA:90051
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Ketoacidosis, Acidosis, Methylmalonic acidemia	ORPHA:289504
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Metabolic acidosis, Respiratory failure, Abnormal blood gas level,...	ORPHA:70578
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased serum lactate, Ragged-red muscle fibers	OMIM:615159
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Apneic episodes precipitated b...	OMIM:312170
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis, Myopathy	OMIM:551000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
Bethlem Myopathy	Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle...	ORPHA:610
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis	ORPHA:391457
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Acidosis, Apnea	OMIM:618235
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased serum lactate	OMIM:617613
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis, Respiratory insufficiency	OMIM:618224
Developmental And Epileptic Encephalopathy 53	Increased serum lactate	OMIM:617389
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy, Metabolic acidosis	ORPHA:26792
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac...	OMIM:602771
Panhypophysitis	Normochromic anemia	ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 43	Increased serum lactate	OMIM:618851
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Pallor	ORPHA:3386
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Skeletal muscle atrophy, Increased serum lactate	OMIM:618239
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy...	ORPHA:544482
Pituitary Apoplexy	Normochromic anemia	ORPHA:95613
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lactic acidosis	ORPHA:79246
Isovaleric Acidemia	Pancytopenia, Ketoacidosis, Metabolic acidosis, Leukopenia, Thrombocytopenia	OMIM:243500
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Cardiomyopathy, Dilated, 2C	Increased serum lactate, Pulmonary arterial hypertension	OMIM:618189
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating IgM level, Macrov...	OMIM:617303
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibrosis, Cirrhosis, Hepatocellular c...	ORPHA:79240
Propionic Acidemia	Pancytopenia, Apnea, Tachypnea, Anemia, Lactic acidosis, Metabolic acidosis, Neutropenia, Thrombo...	OMIM:606054
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Distal Renal Tubular Acidosis	Hemolytic anemia, Hypokalemia	ORPHA:18
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis, Apnea, Respiratory insufficiency	OMIM:617290
Mitochondrial Myopathy With Lactic Acidosis	Increased serum lactate, Lactic acidosis, Elevated serum anion gap	OMIM:251950
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Decrea...	ORPHA:79408
Glomerulopathy With Fibronectin Deposits 1	Acidosis	OMIM:137950
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Ketoacidosis, Metabolic acidos...	OMIM:614582
Striatonigral Degeneration, Infantile, Mitochondrial	Increased serum lactate, Ragged-red muscle fibers	OMIM:500003
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased serum lactate, Skeletal muscle atrophy	ORPHA:330050
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Increased serum lactate, Dyspnea, Achilles tendon contracture, Ragged-re...	OMIM:615418
Coenzyme Q10 Deficiency, Primary, 5	Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Left ventricular hypertrophy...	OMIM:614654
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97282
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Lactic acidosis, Increased serum lactate	OMIM:614741
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia	ORPHA:79351
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Whipple Disease	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Anemia	ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Increased serum lactate, Apnea, Metabolic acidosis	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Combined Oxidative Phosphorylation Deficiency 34	Increased serum lactate, Lactic acidosis, Pancytopenia	OMIM:617872
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Immunodeficiency 44	Increased serum lactate, Lymphopenia	OMIM:616636
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Respiratory insufficiency	OMIM:618230
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis, ...	OMIM:615330
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombocytopenia	OMIM:608013
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn...	ORPHA:781
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys...	OMIM:614576
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu...	OMIM:227646
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Metabolic acidosis, ...	OMIM:604278
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Increased serum lactate, Bronchiectasis, Respiratory insufficiency, Lactic acidosis, Metab...	OMIM:618253
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib...	OMIM:616470
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Choreoacanthocytosis	Splenomegaly, Hepatomegaly, Abnormal erythrocyte enzyme level, Acanthocytosis	ORPHA:2388
Combined Oxidative Phosphorylation Defect Type 27	Increased serum lactate, Ragged-red muscle fibers	ORPHA:477774
Dihydrolipoamide Dehydrogenase Deficiency	Lactic acidosis, Metabolic acidosis, Ketoacidosis	OMIM:246900
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased serum lactate, Torticollis, Foot dorsiflexor weakness	OMIM:619054
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Increased serum lactate, ...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Increased serum lactate, Respiratory insufficiency	OMIM:618378
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in...	ORPHA:324604
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis	OMIM:618226
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Pseudo-Torch Syndrome 1	Splenomegaly, Hepatomegaly, Jaundice, Thrombocytopenia	OMIM:251290
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Congenital Heart Block	Pallor	ORPHA:60041
Pachydermoperiostosis	Splenomegaly, Hepatomegaly, Anemia	ORPHA:2796
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Increased serum lactate, Tachypnea, Lactic acidosis, Respiratory failure, Anemia	OMIM:615838
Necrotizing Enterocolitis	Apnea, Increased serum lactate, Leukocytosis, Metabolic acidosis, Neutropenia, Acidosis, Thromboc...	ORPHA:391673
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu...	ORPHA:70
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Increased serum lactate	OMIM:616198
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Limb muscle weakness	ORPHA:45
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum lactate, Apnea, Metabolic acidosis	OMIM:618225
Dravet Syndrome	Pallor	ORPHA:33069
Sheehan Syndrome	Normochromic anemia	ORPHA:91355
Leber Optic Atrophy And Dystonia	Increased serum lactate, Skeletal muscle atrophy	OMIM:500001
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis, Tachypnea, Left ventricular noncompaction	OMIM:616501
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lactic acidosis, Increased serum lactate, Respiratory insufficiency	OMIM:617668
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased serum lactate, Respiratory failure, Apnea	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 13	Increased serum lactate, Skeletal muscle atrophy	OMIM:614932
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly	ORPHA:134
Niemann-Pick Disease, Type C1	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Charcot-Marie-Tooth Disease, Type 4K	Increased serum lactate, Skeletal muscle atrophy	OMIM:616684
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia	ORPHA:49041
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom...	OMIM:276700
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Lactic acidosi...	OMIM:154275
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased...	OMIM:235200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Tay-Sachs Disease	Pallor	OMIM:272800
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, ...	OMIM:604377
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased serum lactate, Respiratory failure requiring assisted ventilation, Flexion contracture,...	OMIM:619026
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy	ORPHA:31
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Increased serum lactate, Lactic acidosis, Generalized amyotrophy, Thromb...	OMIM:617710
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Increased serum lactate, Lower limb hypertonia, Type ...	ORPHA:319514
Coenzyme Q10 Deficiency, Primary, 7	Increased serum lactate, Respiratory insufficiency	OMIM:616276
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Increased serum lactate, Ragged-red muscle fibers, Respiratory insuffici...	OMIM:616479
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Lactic acidosis, Respiratory failure, Increased serum lactate, Metabolic acidosis	ORPHA:70472
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we...	OMIM:254090
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Lactic acidosi...	OMIM:154276
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Lactic acidosis, Increased serum lactate	OMIM:614458
Neurodegeneration With Brain Iron Accumulation 8	Increased serum lactate	OMIM:617917
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Hypercalcemia, Increased T cel...	ORPHA:797
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts	OMIM:193300
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:255182
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Hypoventilation, Breathing dysregulation	OMIM:618232
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:252920
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Increased serum lactate, Episodic respirat...	ORPHA:255210
Leukodystrophy, Hypomyelinating, 4	Increased serum lactate, Flexion contracture, Apnea	OMIM:612233
Riboflavin Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:615026
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad...	OMIM:260920
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,...	OMIM:310200
Lipoyltransferase 1 Deficiency	Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 52	Increased serum lactate, Respiratory failure, Metabolic acidosis	OMIM:619386
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Increased serum lactate	OMIM:610498
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Pontocerebellar Hypoplasia, Type 6	Increased serum lactate, Apnea, Elbow contracture	OMIM:611523
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum lactate, Metabolic acidosis, Episodic tachypnea	OMIM:615160
Coenzyme Q10 Deficiency, Primary, 2	Elevated lactate:pyruvate ratio, Pulmonary arterial hypertension, Increased serum lactate	OMIM:614651
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum lactate, Dyspnea, Ragged-red muscle fibers	ORPHA:1349
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity	OMIM:150800
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Reduced forced vital capacity, Achilles tendon contracture, Restrictive ventilatory defect, Macro...	OMIM:607155
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy...	ORPHA:3260
Holocarboxylase Synthetase Deficiency	Tachypnea, Lactic acidosis, Metabolic acidosis, Thrombocytopenia, Hyperventilation	OMIM:253270
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:245349
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Respiratory failure, Metabolic acidosis	OMIM:610678
Leigh Syndrome	Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Respiratory failure, Abnorma...	OMIM:256000
Fanconi Anemia, Complementation Group I	Pallor, Neutropenia	OMIM:609053
Hsd10 Disease, Infantile Type	Lactic acidosis, Cyanosis, Metabolic acidosis, Increased serum lactate	ORPHA:391428
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Combined Oxidative Phosphorylation Deficiency 21	Increased serum lactate, Limb hypertonia	OMIM:615918
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate	OMIM:619059
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Increased serum lactate, Flexion contracture, Lactic acidosis, Rec...	ORPHA:79243
Spinocerebellar Ataxia With Epilepsy	Increased serum lactate, Myopathy	ORPHA:254881
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Perrault Syndrome 5	Increased serum lactate	OMIM:616138
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Fumarase Deficiency	Lactic acidosis, Decreased fumarate hydratase activity, Polycythemia, Metabolic acidosis	OMIM:606812
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Combined Oxidative Phosphorylation Deficiency 10	Lactic acidosis, Pleural effusion, Increased serum lactate, Metabolic acidosis	OMIM:614702
Pyruvate Carboxylase Deficiency	Increased serum lactate, Lactic acidosis, Proximal renal tubular acidosis	OMIM:266150
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Metabolic ketoacidosis, Increased serum lactate, Ketoacidosis, L...	OMIM:615453
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia	OMIM:612852
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Hsd10 Mitochondrial Disease	Lactic acidosis, Metabolic acidosis	OMIM:300438
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Hepatomegaly, Sea-blue histiocytosis	OMIM:230600
Interstitial Lung And Liver Disease	Dyspnea, Respiratory insufficiency, Hypoxemia, Lactic acidosis, Cough, Thrombocytosis, Anemia	OMIM:615486
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co...	OMIM:615824
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi...	ORPHA:2137
Malonyl-Coa Decarboxylase Deficiency	Lactic acidosis, Neonatal respiratory distress, Metabolic acidosis	OMIM:248360
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Joint contracture	OMIM:614462
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Lactic acidosis, Metabolic acidosis, Increased variability in musc...	OMIM:615595
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Metabolic alkalosis, Increased serum lactate, Ragged-red muscle fibers, ...	OMIM:616239
Hawkinsinuria	Metabolic acidosis	ORPHA:2118
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Respiratory failure, Pulmona...	OMIM:605711
Mitochondrial Dna Depletion Syndrome 17	Acidosis	OMIM:618567
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate, Metabolic acidosis	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 54	Elevated lactate:pyruvate ratio, Increased serum lactate, Lower limb muscle weakness	OMIM:619737
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Me...	OMIM:214150
Pontocerebellar Hypoplasia, Type 9	Increased serum lactate, Macroglossia, Facial hypotonia	OMIM:615809
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis	OMIM:620137
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate	OMIM:619063
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:667
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Metabolic acidosis	OMIM:618958
Glycogen Storage Disease Xi	Increased serum lactate, Rhabdomyolysis	OMIM:612933
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Thrombocytopenia, Increased serum lactate, Anemia	OMIM:614946
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Hypotonia-Cystinuria Syndrome	Lactic acidosis, Ragged-red muscle fibers, Facial palsy, Increased serum lactate	OMIM:606407
Brucellosis	Hepatomegaly, Liver abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Lymphad...	ORPHA:1304
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased serum lactate	OMIM:617954
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Lower limb muscle weakness	OMIM:617950
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum lactate, Flexion contracture	OMIM:619224
Harel-Yoon Syndrome	Increased serum lactate, Distal amyotrophy	OMIM:617183
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Increased serum lactate, Type 1 muscle fiber predominance, Increased variability in muscle...	OMIM:612949
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachypnea, Abnormality of mas...	ORPHA:423
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Increased serum lactate, Type 2 muscle fiber predominance, Myopathy, Ane...	OMIM:619743
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased serum lactate, Hypoventilation, Nemaline bodies, Elbow contracture	OMIM:620275
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis, Bronchiectasis	OMIM:619445
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis	OMIM:611555
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Increased serum lactate, Lactic acidosis, Pulmonar...	OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate, Limb hypertonia	OMIM:619170
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis, Respiratory insufficiency	ORPHA:88639
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Optic Atrophy 11	Increased serum lactate, Splenomegaly, Facial diplegia, Increased variability in muscle fiber dia...	OMIM:617302
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Stridor, Arthrogryposis multiplex ...	OMIM:617143
Combined Oxidative Phosphorylation Deficiency 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:611719
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
3-Methylglutaconic Aciduria Type 9	Increased serum lactate	ORPHA:505216
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum lactate, Rhabdomyolysis	ORPHA:2364
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Generalized limb muscle atrophy, Facial diplegia, Lower limb muscle weak...	ORPHA:521411
Postpoliomyelitis Syndrome	Hypoventilation, Respiratory insufficiency, Skeletal muscle atrophy	ORPHA:2942
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:616034
Acyl-Coa Dehydrogenase 9 Deficiency	Increased serum lactate, Lactic acidosis, Myopathy, EMG: myopathic abnormalities, Thrombocytopenia	ORPHA:99901
Kabuki Syndrome 1	Hemolytic anemia, Autoimmune thrombocytopenia	OMIM:147920
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Decreased serum zinc, Impaired T cell function, Hepatomegaly	OMIM:201100
Dihydropyrimidinase Deficiency	Metabolic acidosis	OMIM:222748
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Joint contracture, Increased serum lactate	OMIM:617664
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Lac...	ORPHA:26791
Camurati-Engelmann Disease	Splenomegaly, Leukopenia, Anemia, Hepatomegaly	ORPHA:1328
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased serum lactate, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weak...	OMIM:609286
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Increased serum lactate, Renal tubular acidosis, Respiratory insufficiency	ORPHA:324525
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Increased serum lactate, Respiratory insufficiency, Apneic episodes in infancy	OMIM:618222
Lissencephaly 7 With Cerebellar Hypoplasia	Increased serum lactate, Arthrogryposis multiplex congenita	OMIM:616342
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis	OMIM:272300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepa...	ORPHA:2072
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Increased serum lactate, Pulmonary arterial hypertension	OMIM:619064
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Dyspnea, Apnea, Hyperventilation	OMIM:229700
Combined Oxidative Phosphorylation Deficiency 11	Increased serum lactate, Lactic acidosis, Myopathy, Respiratory failure, Renal tubular acidosis	OMIM:614922
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Rhabdomyolysis	OMIM:602199
3-Methylglutaconic Aciduria, Type Ix	Increased serum lactate	OMIM:617698
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Neonatal respiratory distress, Increased serum lactate	OMIM:614388
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation	OMIM:209880
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati...	OMIM:232220
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb...	ORPHA:567983
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Portal hypertension, Fetal ascites, Cholestasis, Hepatosplenomegaly, Hypocalcem...	OMIM:619503
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Increased serum lactate	ORPHA:401866
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased serum lactate, Flexion contracture, Generalized limb muscle atrophy, Leg muscle stiffness	ORPHA:137898
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased serum lactate, Neonatal respiratory distress, Metabolic acidosis	OMIM:619053
Developmental And Epileptic Encephalopathy 82	Increased serum lactate	OMIM:618721
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Increased serum lactate, Type 2 muscle fiber predominance, Lactic acidos...	OMIM:615471
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Increased serum lactate, Ketoacidosis, Lact...	ORPHA:506
Combined Oxidative Phosphorylation Deficiency 7	Increased serum lactate, Skeletal muscle atrophy, Facial diplegia, Facial paralysis	OMIM:613559
Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level...	ORPHA:355
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Lactic acidosis, Increased serum lactate	OMIM:614739
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Skeletal muscle atrophy, Increased serum lactate	OMIM:617339
Hypokalemic Tubulopathy And Deafness	Acidosis	OMIM:619406
Pyruvate Dehydrogenase E3 Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:2394
Cardiogenic Shock	Increased pulmonary capillary wedge pressure, Crackles, Increased serum lactate, Dyspnea, Hypoxem...	ORPHA:97292
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Increased serum lactate, Ragged-red muscle fibers, Rhabdom...	OMIM:157640
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Methylmalonic acidemia	OMIM:614105
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lym...	OMIM:602782
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:301025
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Cirrhosis, Hepatic steat...	OMIM:269700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Metabolic acidosis, Renal tubular acidosis, Arthrogryposis multiplex congenita, Thrombocytopenia,...	OMIM:208085
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Increased serum lactate, Recurrent pneumonia, Flexion contracture, Leukopen...	OMIM:616271
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Dyspnea, Lactic acidosis, Increased serum lactate	OMIM:618250
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis	OMIM:250950
Blau Syndrome	Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy	ORPHA:90340
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Dyspnea, Lactic acidosis, Exertional dyspnea	OMIM:616539
Renal Hypoplasia, Bilateral	Metabolic acidosis, Neonatal respiratory distress, Anemia	ORPHA:97362
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir...	ORPHA:258
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Increased ...	OMIM:607459
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormality of the live...	ORPHA:84
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased serum lactate	OMIM:619060
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Lactic acidosis, Metabolic acid...	ORPHA:31826
Primary Hyperoxaluria Type 1	Calcinosis, Metabolic acidosis, Anemia	ORPHA:93598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Lactic acidosis, Increased serum lactate, Anemia	OMIM:620358
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Breathing dysregulation	ORPHA:79155
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus mor...	ORPHA:436252
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Distal renal tubular acidosis	OMIM:602722
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Increased serum lactate, Lower limb amyotrophy	ORPHA:496790
3-Methylglutaconic Aciduria Type 7	Increased serum lactate, Pneumothorax, Respiratory failure, Infection associated neutropenia, Neu...	ORPHA:445038
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis	ORPHA:565612
Perry Syndrome	Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency	OMIM:168605
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Ketoacidosis, Increased serum lactate, Tachypnea, Lactic acidosis, Metabol...	OMIM:615751
Cholera	Tachypnea, Lactic acidosis, Aspiration pneumonia, Acidosis, Hyperventilation	ORPHA:173
Incontinentia Pigmenti	Leukocytosis, Erythema, Eosinophilia, Pallor	OMIM:308300
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Sinusitis, Pneumonia, Increased serum lactate, Tachypnea, Increas...	ORPHA:36234
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Increased serum lactate, Lactic acidosis, Bradypnea, Respiratory failure	OMIM:617186
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremic metabolic acidosis	OMIM:614492
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased serum lactate, Lactic acidosis, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia	ORPHA:572798
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis	OMIM:145260
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating glutaric acid concentration, Acidosis	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Rhabdomyolysis, Respiratory in...	OMIM:610505
Colchicine Poisoning	Respiratory distress, Abnormality of acid-base homeostasis, Leukocytosis, Cardiorespiratory arres...	ORPHA:31824
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor	ORPHA:137675
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Arthrogryposis multiplex congenita, Metabolic acidosis, Right ventricular...	OMIM:613404
Glucose/Galactose Malabsorption	Metabolic acidosis	OMIM:606824
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Prolactinoma	Pallor	ORPHA:2965
Acute Liver Failure	Abnormal respiratory system physiology, Alkalosis, Hypocapnia, Acidosis, Abnormal pattern of resp...	ORPHA:90062
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy, Lactic acidosis, Increased serum lactate	OMIM:617713
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased serum lactate, Lower limb hypertonia	ORPHA:438114
Melas	Increased serum lactate, Ragged-red muscle fibers, Lactic acidosis, Myopathy, Pulmonary arterial ...	ORPHA:550
Hardikar Syndrome	Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Port...	OMIM:301068
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Friedreich Ataxia	Decreased pyruvate carboxylase activity	OMIM:229300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased serum lactate, Metabolic acidosis	OMIM:618528
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Methylmalonic acidemia, Apnea, Increased serum lac...	ORPHA:17
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Increased serum lactate, Rhabdomyolysis, Lactic acidosis, Metabolic acidosis	OMIM:616878
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Hepatosplenomegaly, Pulmonary arte...	ORPHA:275761
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Metabolic acidosis, Leukopenia...	ORPHA:319213
Vici Syndrome	Left ventricular hypertrophy, Acidosis, Leukopenia, T lymphocytopenia, Myopathy, Neutropenia, Dec...	OMIM:242840
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased serum lactate, Skeletal muscle atrophy	OMIM:620089
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Methanol Poisoning	Metabolic acidosis	ORPHA:31825
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Increased serum lactate, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb...	ORPHA:254892
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremic metabolic acidosis	OMIM:614496
Generalized Pseudohypoaldosteronism Type 1	Metabolic acidosis, Wheezing, Cough	ORPHA:171876
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Left ventricular hypertrophy, T...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 39	Increased serum lactate, Flexion contracture, Congenital contracture, Arthrogryposis multiplex co...	OMIM:618397
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased serum lactate, Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea, ...	ORPHA:26793
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
D-Glyceric Aciduria	Metabolic acidosis	ORPHA:941
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Pancytopenia, Increased serum lactate	OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased serum lactate, Skeletal muscle atrophy, Respiratory failure, Metabolic acidosis	OMIM:618252
Digeorge Syndrome	Impaired T cell function, Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia ...	OMIM:188400
Rett Syndrome	Increased serum lactate, Skeletal muscle atrophy, Abnormal pattern of respiration	ORPHA:778
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Ragged-red muscle fibers, Increased serum lactate	OMIM:614924
Liver Failure, Infantile, Transient	Lactic acidosis, Increased serum lactate	OMIM:613070
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis	OMIM:251120
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Metabolic acidosis	OMIM:264350
Combined Oxidative Phosphorylation Defect Type 39	Increased serum lactate, Congenital foot contractures, Limb hypertonia	ORPHA:565624
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketoacidosis, Skeletal muscle atrophy, Metabolic acidosis	OMIM:210210
Combined Oxidative Phosphorylation Deficiency 37	Lactic acidosis, Respiratory failure, Increased serum lactate, Respiratory insufficiency	OMIM:618329
Blue Diaper Syndrome	Metabolic acidosis	ORPHA:94086
D-Glyceric Aciduria	Metabolic acidosis, Neonatal respiratory distress	OMIM:220120
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Increased serum lactate, Limb hypertonia	OMIM:620306
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Increased serum lactate, Respiratory failure	OMIM:619847
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis	OMIM:620126
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis	OMIM:620125
Congenital Short Bowel Syndrome	Metabolic acidosis	OMIM:615237
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Lactic acidosis, EMG: myopathic abnormalities, Increased serum lactate, Acute rhabdomyolysis	ORPHA:480864
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased serum lactate, Limb muscle weakness, Facial palsy	OMIM:610131
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Metabolic acidosis	OMIM:620152
Esophageal Atresia	Pallor	ORPHA:1199
Adenine Phosphoribosyltransferase Deficiency	Metabolic acidosis	OMIM:614723
Mitochondrial Trifunctional Protein Deficiency 2	Increased serum lactate, Metabolic acidosis	OMIM:620300
Neuroleptic Malignant Syndrome	Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Metabolic acidosis, Aspiration pneumonia, Throm...	ORPHA:94093
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum lactate	OMIM:619405
Fanconi Renotubular Syndrome 3	Metabolic acidosis	OMIM:615605
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Amish Lethal Microcephaly	Metabolic acidosis, Limb hypertonia	ORPHA:99742
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis	OMIM:201450
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture	OMIM:618493
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis	OMIM:177735
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Glutaric Acidemia I	Metabolic acidosis, Elevated circulating glutaric acid concentration	OMIM:231670
Fanconi-Bickel Syndrome	Acidosis, Chronic acidosis	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 27	Increased serum lactate	OMIM:616672
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased serum lactate	OMIM:618598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Lactic acidosis, Increased serum lactate, Respiratory insufficiency	OMIM:614052
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:619055
Pyruvate Carboxylase Deficiency	Elevated lactate:pyruvate ratio, Increased serum lactate, Tachypnea, Lactic acidosis, Metabolic a...	ORPHA:3008
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Increased serum lactate	OMIM:618810
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Respiratory insufficiency, Distal amyotrophy, Weakness of facial musculature, Fa...	ORPHA:99949
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Rhabdomyolysis, Ragged-red muscle fiber...	OMIM:124000
Infantile Nephropathic Cystinosis	Acidosis, Renal Fanconi syndrome, Hyperchloremic metabolic acidosis	ORPHA:411629
3-Methylglutaconic Aciduria, Type Viii	Apnea, Increased serum lactate, Hypopnea, Respiratory failure, Neutropenia, Respiratory arrest	OMIM:617248
Hyperoxaluria, Primary, Type I	Metabolic acidosis, Acrocyanosis	OMIM:259900
Fanconi Renotubular Syndrome 1	Metabolic acidosis	OMIM:134600
Fanconi-Bickel Syndrome	Metabolic acidosis, Renal tubular acidosis	ORPHA:2088
Beta-Ureidopropionase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:613161
Rabin-Pappas Syndrome	Tracheomalacia, Hypoventilation	OMIM:620155
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Lactic acidosis, Metabolic acidosis	OMIM:256810
Glycogen Storage Disease Ic	Lactic acidosis, Pulmonary arterial hypertension, Metabolic acidosis, Cyclic neutropenia	OMIM:232240
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation	OMIM:606056
Hyperaldosteronism, Familial, Type Iii	Metabolic acidosis	OMIM:613677
Glycerol Kinase Deficiency	Ketoacidosis, Myopathy, Metabolic acidosis, Muscular dystrophy	OMIM:307030
Familial Hypoaldosteronism	Metabolic acidosis, Proximal renal tubular acidosis	ORPHA:427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Microvillus Inclusion Disease	Metabolic acidosis	ORPHA:2290
Prader-Willi Syndrome	Hypoventilation, Decreased muscle mass	OMIM:176270
Primary Hyperoxaluria	Metabolic acidosis, Acrocyanosis	ORPHA:416
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Metabolic acidosis	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 29	Increased serum lactate	OMIM:616811
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased serum lactate	OMIM:618249
Oculocerebrorenal Syndrome Of Lowe	Increased serum lactate, Thrombocytopenia, Proximal renal tubular acidosis, Respiratory insuffici...	ORPHA:534
Friedreich Ataxia 2	Diabetic ketoacidosis, Decreased pyruvate carboxylase activity	OMIM:601992
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Metabolic acidosis, Neonatal respiratory distress	ORPHA:228308
Hawkinsinuria	Metabolic acidosis	OMIM:140350
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Combined Oxidative Phosphorylation Defect Type 29	Increased serum lactate	ORPHA:478029
Cystinosis, Nephropathic	Skeletal muscle atrophy, Splenomegaly, Metabolic acidosis, Myopathy, Renal Fanconi syndrome, Epis...	OMIM:219800
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Increased serum lactate, Facial hypotonia, Intrinsic hand muscle atrophy	OMIM:615273
Combined Oxidative Phosphorylation Deficiency 15	Increased serum lactate, Respiratory arrest	OMIM:614947
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Acidosis	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Acidosis	ORPHA:289548
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest	ORPHA:293987
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Hypoventilation, Increased serum lactate	OMIM:203700
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Metabolic acidosis, Renal tubular acidosis	OMIM:619575
Cerebrotendinous Xanthomatosis	Increased serum lactate, Tendon xanthomatosis, Distal amyotrophy, Abnormality of the Achilles tendon	ORPHA:909
Diarrhea 10, Protein-Losing Enteropathy Type	Metabolic acidosis, Pleural effusion	OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased serum lactate, Tachypnea, Lactic acidosis, Severe lactic acidosis, Persistent lactic ac...	OMIM:220111
Yellow Fever	Neutrophilia, Leukocytosis, Decreased serum bicarbonate concentration, Metabolic acidosis, Thromb...	ORPHA:99829
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor	ORPHA:99125
Hereditary Fructose Intolerance	Metabolic acidosis	ORPHA:469
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia	ORPHA:438213
Juvenile Nephropathic Cystinosis	Metabolic acidosis, Renal Fanconi syndrome	ORPHA:411634
Fructose Intolerance, Hereditary	Lactic acidosis, Metabolic acidosis, Proximal renal tubular acidosis	OMIM:229600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased serum lactate, Splenomegaly, Asthma, Metabolic acidosis, Pulmonary arterial hypertension	OMIM:619534

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 Hbb-b1

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 Hbb-b1.

No publications found that use IMPC mice or data for Hbb-b1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Hbb-b1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Hbb-b1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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