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Gene: Tmcc2 MGI:1916125

Gene Summary

Name:

transmembrane and coiled-coil domains 2

Synonyms:

1110063G11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
no spontaneous movement	Tmcc2^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Tmcc2^em1(IMPC)Mbp	HET	E18.5	0.00
enlarged spleen	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Tmcc2^em1(IMPC)Mbp	HET	Early adult	5.83×10^-05
abnormal skin morphology	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Tmcc2^em1(IMPC)Mbp	HOM	E18.5	0.00
enlarged gallbladder	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin appearance	Tmcc2^em1(IMPC)Mbp	HOM	E18.5	0.00
enlarged cecum	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Tmcc2^em1(IMPC)Mbp	HET	Early adult	2.71×10^-05
decreased mean corpuscular volume	Tmcc2^em1(IMPC)Mbp	HET	Early adult	2.47×10^-05
abnormal gallbladder morphology	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Tmcc2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal cecum morphology	Tmcc2^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Gross Morphology Embryo E18.5

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Tmcc2 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 Tmcc2 (0 diseases)
Human diseases predicted to be associated with Tmcc2 (1061 diseases)

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

The table below shows human diseases predicted to be associated to Tmcc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,...	OMIM:300751
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia, Pallor	ORPHA:517
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoies...	OMIM:615285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto...	OMIM:616216
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Erythrocytosis, Familial, 2	Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,...	OMIM:263400
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Infantile Liver Failure Syndrome 1	Failure to thrive, Anemia, Macrocytic anemia	OMIM:615438
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Pallor, Abnormal erythro...	ORPHA:98870
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:237800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pallor	OMIM:613839
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Tempi Syndrome	Polycythemia, Facial erythema, Increased hematocrit	ORPHA:284227
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Diamond-Blackfan Anemia 5	Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Primary Myelofibrosis	Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Cachexia, Leukocytosis, P...	ORPHA:824
Birk-Aharoni Syndrome	Failure to thrive, Macrocytic anemia	OMIM:620071
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
X-Linked Sideroblastic Anemia	Pallor, Anemia, Splenomegaly	ORPHA:75563
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Pallor	ORPHA:49827
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul...	OMIM:615234
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype...	OMIM:617021
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Normocytic anemia, Megaloblastic anemia	OMIM:236270
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis...	OMIM:224120
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Nephronophthisis	Anemia	ORPHA:655
Congenital Atransferrinemia	Anemia	ORPHA:1195
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia	OMIM:242880
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Atransferrinemia	Hypochromic anemia	OMIM:209300
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis	OMIM:612840
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Macrocytic anemia	OMIM:615578
Beta-Thalassemia	Skin ulcer, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Pallor, Microcytic anemia	ORPHA:848
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor...	OMIM:611590
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia, Pallor	ORPHA:90045
Hb Bart'S Hydrops Fetalis	Pallor, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia	ORPHA:2575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Pallor, Failure to thrive	OMIM:613561
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E...	OMIM:601775
Hereditary Spherocytosis	Skin ulcer, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentra...	ORPHA:822
Leishmaniasis	Skin ulcer, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Throm...	ORPHA:507
Trichothiodystrophy 6, Nonphotosensitive	Small for gestational age, Dry skin, Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt...	OMIM:300367
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia, Pallor	OMIM:611804
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Failure to thri...	OMIM:275350
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Rh Deficiency Syndrome	Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,...	ORPHA:71275
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v...	OMIM:616860
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia, Anemia	OMIM:618882
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Failure to thrive, Neutropenia	ORPHA:2169
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly	OMIM:618852
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Anemia	OMIM:610090
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c...	ORPHA:398063
Myelofibrosis	Purpura, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extramedullary hema...	OMIM:254450
Beta-Thalassemia Intermedia	Skin ulcer, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatospl...	ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso...	ORPHA:309108
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis	ORPHA:90064
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Petechiae, Thrombocytopenia, Macrothrombocytopenia	OMIM:187800
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum	OMIM:604416
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple...	OMIM:618963
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia	OMIM:105600
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Sideroblastic anemia, Hypochromic anemia, Failure to thrive, Microcytic anemia, Erythroid hyperpl...	OMIM:600462
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Microcytic anemia	OMIM:618811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, Abnormally low T...	OMIM:608203
Cold Agglutinin Disease	Pallor, Splenomegaly, Hemolytic anemia	ORPHA:56425
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Megaloblastic anemia, Neutropenia	OMIM:250940
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec...	ORPHA:300298
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Porphyria, Acute Hepatic	Failure to thrive, Hemolytic anemia	OMIM:612740
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Dominant Beta-Thalassemia	Skin ulcer, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, P...	ORPHA:231226
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co...	OMIM:600803
Beta-Thalassemia Major	Anisopoikilocytosis, Skin ulcer, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231214
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Anemia	OMIM:614514
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Rosaï-Dorfman Disease	Anemia, Erythema	ORPHA:158014
Evans Syndrome	Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pal...	ORPHA:1959
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress...	OMIM:194380
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
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
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Reticular Dysgenesis	Skin ulcer, Anemia, Failure to thrive, Leukopenia, Weight loss, Abnormality of neutrophils	ORPHA:33355
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema	ORPHA:79278
Stormorken-Sjaastad-Langslet Syndrome	Purpura, Anemia, Asplenia	ORPHA:3204
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Anemia of inadequate production, Splenomegaly	OMIM:612714
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia	OMIM:246400
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Bone Marrow Failure Syndrome 4	Dry skin, Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Failure to t...	OMIM:615512
Fibrodysplasia Ossificans Progressiva	Failure to thrive, Anemia	ORPHA:337
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Anemia	ORPHA:28
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr...	OMIM:601346
Diamond-Blackfan Anemia 10	Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia	OMIM:613309
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Mu-Heavy Chain Disease	Anemia, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy, Target cel...	OMIM:603903
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Dry skin, Leukopenia, Thrombocytopenia,...	OMIM:613990
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Anemia, Dry skin, Increased body mass index	OMIM:614450
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Small for gestat...	OMIM:277380
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Livedoid Vasculopathy	Skin ulcer, Anemia, Pancytopenia, Macular purpura, Leukocytosis, Polycythemia, Ecchymosis	ORPHA:542643
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Splenomegaly	ORPHA:90037
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Tufted Angioma	Petechiae, Thrombocytopenia, Anemia, Purpura	ORPHA:1063
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia	ORPHA:514
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin...	ORPHA:90041
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit...	OMIM:615710
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Pallor, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Failure to thrive, Weight loss, Thrombocytosis	OMIM:212750
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni...	OMIM:250250
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Megaloblastic anemia, Neutropenia	ORPHA:79284
Retinitis Pigmentosa 89	Retinal thinning, Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micron...	OMIM:618955
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Dry skin, Failure to thrive, Weight loss, Eosinophilia	ORPHA:199299
Dermatitis Herpetiformis	Skin vesicle, Microcytic anemia, Erythema	ORPHA:1656
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Hyperbiliverdinemia	Decreased liver function, Cholestasis, Cholelithiasis	OMIM:614156
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Orthostatic Hypotension 2	Anemia	OMIM:618182
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Dry skin, Failure to thrive, Microcytic anemia	OMIM:612379
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Oslam Syndrome	Anemia	OMIM:165660
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Immune Dysregulation, Autoimmunity, And Autoinflammation	Petechiae, Ecchymosis, Anemia	OMIM:620514
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Transaldolase Deficiency	Thrombocytopenia, Anemia, Premature skin wrinkling, Hepatosplenomegaly	ORPHA:101028
Osteopetrosis, Autosomal Recessive 4	Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Failure to thrive, Thrombocytopenia, Leukopenia	OMIM:619151
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Acatalasemia	Microcytic anemia	ORPHA:926
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia	OMIM:616871
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Small for gestational age	OMIM:620135
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia	ORPHA:329971
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Purpura, Anemia, Splenomegaly	OMIM:620296
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612653
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Polycythemia Vera	Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Spherocytosis, Type 2	Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Isolated Agammaglobulinemia	Skin ulcer, Anemia, Abnormal lymphocyte morphology, Failure to thrive, Thrombocytopenia, Abnormal...	ORPHA:229717
Hemochromatosis, Type 3	Purpura, Neutropenia, Anemia, Lymphopenia	OMIM:604250
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Pallor, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:601859
Revesz Syndrome	Aplastic anemia, Macrocytic anemia, Neutropenia	OMIM:268130
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ...	ORPHA:3032
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Microcytic anemia	OMIM:619013
Congenital Toxoplasmosis	Failure to thrive in infancy, Thrombocytopenia, Anemia	ORPHA:858
Immunodeficiency 27A	Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytosis, Histiocytosis	OMIM:209950
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Potocki-Shaffer Syndrome	Anemia	ORPHA:52022
Hemochromatosis, Type 2B	Anemia, Splenomegaly	OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia	OMIM:616278
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, F...	OMIM:557000
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Ollier Disease	Skin ulcer, Anemia	ORPHA:296
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly	OMIM:618107
Immunodeficiency 32B	Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophi...	OMIM:226990
Lesch-Nyhan Syndrome	Megaloblastic anemia	OMIM:300322
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Ecchymosis, Neutropenia	ORPHA:88
Fumarase Deficiency	Failure to thrive, Polycythemia, Pallor	OMIM:606812
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Extramedullary hematopoiesis	ORPHA:79303
Congenital Syphilis	Palmoplantar scaling skin, Purpura, Anemia, Petechiae, Thrombocytopenia, Hepatosplenomegaly, Extr...	ORPHA:499009
Acute Interstitial Pneumonia	Reduced hematocrit	ORPHA:79126
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Hydatidiform Mole	Anemia	ORPHA:99927
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomega...	OMIM:259720
Anti-Glomerular Basement Membrane Disease	Purpura, Anemia	ORPHA:375
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Failure to thrive, Megaloblastic anemia	ORPHA:79351
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly	ORPHA:1046
Coach Syndrome 3	Anemia	OMIM:619113
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Bone-marrow foam cells, Failure to thrive, Splenomegaly, Microcytic anemia	OMIM:257200
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Small for gestational a...	OMIM:600901
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Sepsis In Premature Infants	Purpura, Anemia, Petechiae, Decreased body weight, Leukocytosis, Thrombocytopenia, Splenomegaly, ...	ORPHA:90051
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Macrocytic anemia	OMIM:614294
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Poems Syndrome	Polycythemia, Thrombocytosis, Splenomegaly, Weight loss	ORPHA:2905
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Elevate...	OMIM:613812
Nephronophthisis 9	Anemia	OMIM:613824
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Solitary Rectal Ulcer Syndrome	Decreased body weight, Anemia	ORPHA:209964
Atelis Syndrome 1	Dry skin, Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Failure to thrive	OMIM:610198
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Petechiae, Neutropenia in presence of anti-n...	OMIM:603909
Hypophosphatasia	Failure to thrive in infancy, Anemia	ORPHA:436
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Pallor, Small for gestational age, Neu...	OMIM:277400
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Wolman Disease	Cachexia, Bone-marrow foam cells, Anemia, Splenomegaly	ORPHA:75233
Schnitzler Syndrome	Anemia, Leukocytosis, Splenomegaly	ORPHA:37748
C1Q Deficiency 2	Facial erythema, Anemia	OMIM:620321
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Rhabdoid Tumor	Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Castleman Disease	Thrombocytopenia, Anemia, Weight loss, Decreased mean corpuscular volume	ORPHA:160
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c...	OMIM:616050
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Asplenia, Intestinal malrotat...	ORPHA:210122
Sialuria	High, narrow palate, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:3166
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor	ORPHA:79283
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Small for gestational a...	OMIM:227650
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia	OMIM:619750
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Pyoderma gangrenosum	OMIM:608068
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Bazex Syndrome	Scaling skin, Anemia	ORPHA:166113
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip...	OMIM:618278
Specific Granule Deficiency 2	Anemia, Failure to thrive, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia	OMIM:617475
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
Majeed Syndrome	Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomegaly, Weight lo...	ORPHA:77297
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Anemia	OMIM:255125
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Dermotrichic Syndrome	Anemia	ORPHA:99688
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Small for gestational age, Normochromic anemia	OMIM:618775
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Von Willebrand Disease	Petechiae, Thrombocytopenia, Microcytic anemia	ORPHA:903
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 41	Anemia	OMIM:618838
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Persistence of hemoglobin F	OMIM:619769
Hemochromatosis, Type 4	Anemia	OMIM:606069
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Anemia, Weight loss	ORPHA:54251
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia	ORPHA:1192
Sandhoff Disease	Cherry red spot of the macula, Hepatomegaly, Splenomegaly	ORPHA:796
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure	ORPHA:75234
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Failure to thrive, Anemia, Small for gestational age	OMIM:619147
Congenital Disorder Of Glycosylation, Type Ii	Decreased body weight, Iron deficiency anemia	OMIM:607906
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Anemia, Erythroid hypoplasia	OMIM:618165
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Atrophic gastritis, Perif...	OMIM:240300
Hemochromatosis, Type 5	Anemia	OMIM:615517
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Myeloid leukemia, Anemia, Pancytopenia	OMIM:614742
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Small for gestational age, Failure to thrive, Microcytic anemia	OMIM:612073
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:614520
Neuroblastoma	Anemic pallor, Thrombocytopenia, Anemia, Weight loss	ORPHA:635
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Diabetes Mellitus, Permanent Neonatal, 1	Small for gestational age, Elevated hemoglobin A1c	OMIM:606176
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Hypochromic microcytic anemia	OMIM:619423
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gall...	ORPHA:2869
Prolidase Deficiency	Skin ulcer, Anemia, Petechiae, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis	OMIM:616084
Cinca Syndrome	Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis	OMIM:607115
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Immunodeficiency 115 With Autoinflammation	Decreased proportion of memory T cells, Anemia, Splenomegaly, T lymphocytopenia	OMIM:620632
Hoyeraal-Hreidarsson Syndrome	Anemia, Excessive wrinkled skin, Abnormal leukocyte morphology, Failure to thrive, Thrombocytopenia	ORPHA:3322
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Elevated hemoglobin A1c	OMIM:619278
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia	ORPHA:89937
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-...	OMIM:613011
Aceruloplasminemia	Anemia	OMIM:604290
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Anemia, Iron deficiency anemia	OMIM:226300
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Omenn Syndrome	Anemia, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Failure to thrive, Splenomegaly, ...	ORPHA:39041
Myotonic Dystrophy 1	Testicular atrophy, Dysphagia, Cholelithiasis	OMIM:160900
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pa...	ORPHA:97278
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ...	OMIM:121300
Hyperlysinemia, Type I	Anemia	OMIM:238700
Fetal Cytomegalovirus Syndrome	Petechiae, Thrombocytopenia, Anemia, Splenomegaly	ORPHA:294
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Small for gestational a...	OMIM:227645
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Waldenström Macroglobulinemia	Normocytic anemia, Purpura, Splenomegaly, Pallor, Abnormality of neutrophils, Leukemia	ORPHA:33226
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Immunodeficiency 102	Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor...	OMIM:301082
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Redundant neck skin, Anemia, Weight loss	ORPHA:1842
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure to thrive, Thr...	OMIM:260400
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Leukocytosis, Weight loss	ORPHA:2070
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice	OMIM:237500
Acute Promyelocytic Leukemia	Purpura, Anemia, Pancytopenia, Petechiae, Leukocytosis, Leukopenia, Thrombocytopenia, Ecchymosis,...	ORPHA:520
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Drug-Induced Lupus Erythematosus	Petechiae, Thrombocytopenia, Anemia	ORPHA:231111
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Leukocytosis, Leukopenia, Weight loss, Pallor, Thrombocytosis	ORPHA:20
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytopenia, Coombs-posi...	OMIM:304790
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Obesity, Acute megakaryocytic leukemia	ORPHA:870
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, E...	OMIM:607765
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis, Weight loss	ORPHA:90060
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Central Retinal Vein Occlusion	Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott...	ORPHA:411527
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Failure to thrive, Severe B lymphocytopenia,...	OMIM:603554
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Maturity-Onset Diabetes Of The Young, Type 13	Abnormality of body mass index, Elevated hemoglobin A1c	OMIM:616329
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Metachromatic Leukodystrophy	Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder...	ORPHA:512
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Splenomegaly	ORPHA:309854
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Shwachman-Diamond Syndrome 2	Failure to thrive, Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia	ORPHA:210110
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Combined Oxidative Phosphorylation Deficiency 59	Retinal degeneration, Cholelithiasis	OMIM:620646
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Von Hippel-Lindau Disease	Polycythemia, Pallor	ORPHA:892
Takayasu Arteritis	Skin ulcer, Anemia, Weight loss	ORPHA:3287
Cholesteryl Ester Storage Disease	Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati...	OMIM:278000
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Purpura, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:235400
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Cholestasis, Portal ...	OMIM:619662
X-Linked Agammaglobulinemia	Skin ulcer, Anemia, Failure to thrive, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia	ORPHA:79409
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,...	ORPHA:891
Beta-Ketothiolase Deficiency	Pallor, Thrombocytosis, Leukocytosis, Weight loss	ORPHA:134
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Failure to thrive,...	OMIM:610377
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly, Hepatic failure	ORPHA:664
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Anemia, Failure to thrive, Acanthocytosis, Schistocytosis	OMIM:616457
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytopenia, Splen...	OMIM:263700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Leukopenia	OMIM:613845
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Thymoma	Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Addison Disease	Normocytic anemia, Dry skin, Failure to thrive, Weight loss, Thiamine-responsive megaloblastic an...	ORPHA:85138
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Wilson Disease	Anemia, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Weight loss	ORPHA:905
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Hatipoglu Immunodeficiency Syndrome	Anemia, Pancytopenia, Petechiae, Dry skin, Failure to thrive	OMIM:620331
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Nephronophthisis 4	Anemia	OMIM:606966
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Combined Oxidative Phosphorylation Deficiency 40	Anemia	OMIM:618835
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Alg8-Cdg	Anemia, Premature skin wrinkling, Cutis laxa, Failure to thrive, Thrombocytopenia, Small for gest...	ORPHA:79325
Combined Oxidative Phosphorylation Deficiency 42	Anemia	OMIM:618839
Fanconi Anemia, Complementation Group S	Failure to thrive, Anemia	OMIM:617883
Pituitary Apoplexy	Pallor, Normochromic anemia	ORPHA:95613
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Thrombocytosis, Failure to thrive, Leukocytosis	OMIM:618213
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Fanconi Anemia, Complementation Group I	Pallor, Decreased body weight, Neutropenia	OMIM:609053
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Cimdag Syndrome	Microvesicular hepatic steatosis, Retinal dystrophy, Hepatomegaly, Cholelithiasis	OMIM:619273
Sandifer Syndrome	Anemia	ORPHA:71272
Kasabach-Merritt Phenomenon	Purpura, Anemia, Petechiae, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemol...	ORPHA:2330
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Fanconi Anemia, Complementation Group R	Anemia	OMIM:617244
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Ecchymosis, Stomatocyt...	OMIM:153670
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Sheehan Syndrome	Pallor, Obesity, Dry skin, Normochromic anemia	ORPHA:91355
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:274150
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Tularemia	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:3392
Cronkhite-Canada Syndrome	Cachexia, Anemia, Splenomegaly	ORPHA:2930
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Anemia	ORPHA:440713
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Immunodeficiency 22	Failure to thrive, Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia	OMIM:615758
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Transaldolase Deficiency	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Smal...	OMIM:606003
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Bleeding Disorder, Platelet-Type, 17	Petechiae, Absence of alpha granules, Thrombocytopenia, Ecchymosis, Macrothrombocytopenia, Increa...	OMIM:187900
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Propionic Acidemia	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:606054
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Barth Syndrome	Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia, Neutropenia	OMIM:302060
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Weight loss, Decreased proportion of memor...	OMIM:301074
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis	ORPHA:2886
Meckel Syndrome, Type 6	Bile duct proliferation, Cleft palate, Cystic liver disease, Absent gallbladder, Hepatic cysts, H...	OMIM:612284
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Cinca Syndrome	Purpura, Anemia, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abnormality of neut...	ORPHA:1451
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Stiff-Person Syndrome	Anemia	OMIM:184850
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Thrombocytopenia, Anemia	OMIM:608104
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Anemia	ORPHA:53
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Decreased eosinophil count	OMIM:619632
Nephronophthisis 1	Anemia	OMIM:256100
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Anemia	OMIM:615838
Wolcott-Rallison Syndrome	Lymphocytosis, Decreased body weight, Iron deficiency anemia, Neutropenia	ORPHA:1667
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Distal Duplication 5Q	Cryptorchidism, Chorioretinal coloboma, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia	ORPHA:293967
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Tafro Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:457077
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Cutis laxa, Failure to thrive, Thrombocytopenia, Leukopenia,...	OMIM:300972
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Failure to thrive, Leukopenia, Lymphopenia, Thrombocytosis, Erythema	OMIM:615934
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251110
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Small for gestational a...	OMIM:227646
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure	OMIM:614886
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Felty Syndrome	Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Weight loss, Neutropenia	ORPHA:47612
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Esophageal varix, Papilledema, Hepatosplenomegaly, Abnormal...	ORPHA:2072
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Decreased body weight, Anemia, Small for gestational age	OMIM:615789
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Leukocyte Adhesion Deficiency Type Ii	Anemia, Leukocytosis, Failure to thrive, Neutrophilia, Small for gestational age, Skin vesicle, M...	ORPHA:99843
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:259700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss	ORPHA:324964
Progeria-Short Stature-Pigmented Nevi Syndrome	Small for gestational age, Microcytic anemia, T lymphocytopenia	ORPHA:2959
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Hepatomegaly, Cholelithiasis, Gastroesophageal reflux, Hyp...	OMIM:618268
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, High palate, Furrowed tongue, Decreased testicular size, Cryptorchidism	OMIM:300534
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Failure to thrive, Neutrophilia, Hepatosplenom...	ORPHA:3260
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia	OMIM:175500
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
Kenny-Caffey Syndrome, Type 1	Anemia	OMIM:244460
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Increased body weight	ORPHA:276608
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia	ORPHA:247691
Wiskott-Aldrich Syndrome	Acute leukemia, Purpura, Skin ulcer, Anemia, Petechiae, Abnormal eosinophil morphology, Hypoplasi...	ORPHA:906
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Hypochromic microcytic anemia	ORPHA:66634
Ogden Syndrome	Redundant neck skin, Iron deficiency anemia, Redundant skin, Cutis laxa, Polycythemia, Thrombocyt...	OMIM:300855
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Malformation of the hepati...	OMIM:607361
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Elevated hemoglobin A1c	OMIM:618620
Arthrogryposis Multiplex Congenita 5	Poikilocytosis, Normocytic anemia, Premature skin wrinkling, Acanthocytosis	OMIM:618947
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251100
Eisenmenger Syndrome	Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:97214
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou...	ORPHA:40923
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Optic Atrophy 1	Pallor	OMIM:165500
Juvenile Polyposis Syndrome	Failure to thrive, Anemia	OMIM:174900
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly	ORPHA:289157
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia	OMIM:613951
Steinfeld Syndrome	Median cleft palate, Retinal coloboma, Bifid uvula, Absent gallbladder, Iris coloboma	OMIM:184705
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cholelithiasis, Pseudobulbar paralysis	OMIM:213700
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Small for gestational age	ORPHA:330015
Nephronophthisis 11	Anemia	OMIM:613550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Thrombocytopenia, Lymphopenia...	ORPHA:508542
Recon Progeroid Syndrome	Scaling skin, Thrombocytopenia, Anemia, Dry skin	OMIM:620370
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome...	OMIM:216360
American Trypanosomiasis	Pallor, Splenomegaly	ORPHA:3386
Amoebiasis Due To Entamoeba Histolytica	Anemia, Leukocytosis, Weight loss	ORPHA:67
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Retinopathy, S...	ORPHA:355
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Pallor, Small for gestational age	ORPHA:324575
Attrv122I Amyloidosis	Anemia	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Anemia, Hemophagocytosis, Petechiae, Thrombocytopenia, Splenomegaly, Ecchymosis, Neutrop...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 1	Anemia, Hemophagocytosis, Failure to thrive, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Acute Adrenal Insufficiency	Failure to thrive, Normocytic anemia, Dry skin, Weight loss	ORPHA:95409
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr...	OMIM:175200
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infec...	OMIM:613489
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Gaucher Disease, Type Ii	Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Adams-Oliver Syndrome 6	Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension	OMIM:616589
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Mirage Syndrome	Anemia, Petechiae, Decreased body weight, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymph...	OMIM:617053
Pentalogy Of Cantrell	Absent gallbladder, Cleft palate, Polysplenia	ORPHA:1335
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Autosomal Recessive Malignant Osteopetrosis	Pallor, Anemia, Splenomegaly	ORPHA:667
Goodpasture Syndrome	Pallor, Anemia, Weight loss	OMIM:233450
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alanine...	OMIM:607330
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Anemia	OMIM:620358
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Weight loss, Normochromic anemia	ORPHA:91500
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Adult-Onset Still Disease	Anemia, Leukocytosis, Neutrophilia, Splenomegaly, Weight loss, Erythema	ORPHA:829
Dyskeratosis Congenita, Digenic	Failure to thrive, Anemia	OMIM:620040
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:292
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Osteootohepatoenteric Syndrome	Failure to thrive, Anemia, Weight loss	OMIM:619377
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Severe Hemophilia A	Anemia	ORPHA:169802
Primary Hyperoxaluria Type 1	Failure to thrive, Anemia	ORPHA:93598
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Pallor	ORPHA:276556
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Coloboma, Retinal atrophy, Cleft palate, Cardiom...	ORPHA:97297
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Pancytopenia, Failure to thrive, Leukopenia, Splenomegaly, Hepatospleno...	OMIM:603553
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ effector memory ...	ORPHA:90362
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Anemia, Splenomegaly	OMIM:239200
Autoimmune Polyendocrine Syndrome, Type Ii	Iron deficiency anemia, Asplenia	OMIM:269200
Beckwith-Wiedemann Syndrome	Large for gestational age, Redundant skin, Polycythemia, Obesity, Splenomegaly	ORPHA:116
Retinitis Pigmentosa 51	Pallor, Obesity	OMIM:613464
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Pulmonary Arteriovenous Malformation	Iron deficiency anemia	ORPHA:2038
Renal Hypoplasia, Bilateral	Failure to thrive, Anemia, Small for gestational age	ORPHA:97362
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Polycythemia, Impaire...	ORPHA:2968
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Pallor	ORPHA:276575
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cleft palate, Hepatosplenomegaly, Cholecystitis	OMIM:301066
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia	OMIM:226600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Pallor	ORPHA:276580
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Gastrointestinal he...	ORPHA:774
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Anemia	ORPHA:436271
Tangier Disease	Dry skin, Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:31150
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Aceruloplasminemia	Refractory anemia, Hypochromic microcytic anemia	ORPHA:48818
Kenny-Caffey Syndrome, Type 2	Anemia, Small for gestational age	OMIM:127000
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Pallor	ORPHA:536516
Infection-Related Hemolytic Uremic Syndrome	Pallor, Thrombocytopenia, Leukocytosis, Hemolytic anemia	ORPHA:544482
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Anemia	OMIM:600376
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia, Obesity	OMIM:620072
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Retinal degeneration, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:615630
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Leukocytosis, Neutrophilia, Skin vesi...	ORPHA:3243
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis, Colitis	OMIM:615947
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Lymphatic Malformation 7	Anemia	OMIM:617300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Glucagonoma	Necrolytic migratory erythema, Weight loss, Acanthocytosis, Normochromic anemia	ORPHA:97280
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Vipoma	Weight loss, Erythema, Normochromic anemia	ORPHA:97282
H Syndrome	Histiocytosis, Microcytic anemia, Hepatosplenomegaly	ORPHA:168569
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Johanson-Blizzard Syndrome	Failure to thrive, Anemia	ORPHA:2315
Interstitial Lung And Liver Disease	Failure to thrive, Thrombocytosis, Anemia	OMIM:615486
22Q11.2 Deletion Syndrome	Optic atrophy, Gastrointestinal hemorrhage, Aganglionic megacolon, Hypoparathyroidism, Cholelithi...	ORPHA:567
Camurati-Engelmann Disease	Slender build, Anemia	OMIM:131300
Fanconi Anemia, Complementation Group F	Failure to thrive, Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Farber Lipogranulomatosis	Cherry red spot of the macula, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Anteriorly placed anus, Esophageal atresia, Biliary atresia	OMIM:615272
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Purpura, Impaired lymphocyte transformation with phytohemagglutinin,...	OMIM:301000
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th...	OMIM:214500
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cleft palate, Furrowed tongue, Cholelithiasis	ORPHA:464738
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Cryptorchidism, Intestinal malrotation, Cleft palat...	ORPHA:3376
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Cutis laxa, Failure to thrive, Thrombocytopenia, Leukopenia, Splenomega...	OMIM:222700
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Anemia	OMIM:220110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Joubert Syndrome 6	Hepatic fibrosis, Chorioretinal coloboma, Retinal degeneration, Bile duct proliferation	OMIM:610688
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Toxic Epidermal Necrolysis	Skin ulcer, Anemia, Thrombocytopenia, Weight loss, Erythema, Neutropenia	ORPHA:537
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Gastrointestinal Stromal Tumor	Anemia	ORPHA:44890
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Peripheral Primitive Neuroectodermal Tumor	Anemia, Weight loss	ORPHA:370348
Non-Functioning Paraganglioma	Pallor, Weight loss	ORPHA:94080
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Weight loss	ORPHA:49041
Meckel Syndrome, Type 2	Intestinal malrotation, Cleft palate, Bile duct proliferation	OMIM:603194
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Colorectal polyposis, Neopl...	ORPHA:733
Pancreatic And Cerebellar Agenesis	Failure to thrive, Anemia	OMIM:609069
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Weight loss, Abnormality of neutrophils, Erythema	ORPHA:36426
Incontinentia Pigmenti	Eosinophilia, Pallor, Leukocytosis, Erythema	OMIM:308300
Hereditary Amyloidosis With Primary Renal Involvement	Purpura, Anemia, Petechiae, Hepatosplenomegaly, Weight loss	ORPHA:85450
Rat-Bite Fever	Scaling skin, Anemia, Weight loss	ORPHA:31205
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Anemia	OMIM:187300
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ecchymosis	ORPHA:464329
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Pylo...	ORPHA:83617
Dravet Syndrome	Pallor	ORPHA:33069
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Failure to thrive, Leukocytosis, Splenomegaly	OMIM:615895
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Anal atresia, Intestinal mal...	OMIM:115470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,...	OMIM:267010
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion...	OMIM:614700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Failure to thrive, Leukopenia, Splenomega...	OMIM:612541
Trisomy 8P	Annular pancreas, Bifid uvula, Cleft palate, Malrotation of small bowel, Cryptorchidism, Aplasia/...	ORPHA:264450
Primary Sjögren Syndrome	Normocytic anemia, Purpura, Skin ulcer, Normochromic anemia, Dry skin, Decreased proportion of CD...	ORPHA:289390
Digeorge Syndrome	High, narrow palate, Anemia, Cholelithiasis, Gastroesophageal reflux, High palate, Hypoplasia of ...	OMIM:188400
Cerebrotendinous Xanthomatosis	Optic atrophy, Cholelithiasis, Optic neuropathy, Prolonged neonatal jaundice, Hypermyelinated ret...	ORPHA:909
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	ORPHA:90038
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Hypopl...	ORPHA:436252
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Multiple Myeloma	Anemia, Splenomegaly, Weight loss	ORPHA:29073
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Pancreatic aplasia	ORPHA:556955
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85408
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Adams-Oliver Syndrome 5	Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Congenital Heart Block	Pallor	ORPHA:60041
Degcags Syndrome	Anemia, Iron deficiency anemia, Pancytopenia, Abnormal spleen morphology, Failure to thrive, Leuk...	OMIM:619488
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi...	ORPHA:1454
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia	OMIM:174000
Carney Triad	Anemia	ORPHA:139411
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Dopamine Beta-Hydroxylase Deficiency	Anemia	ORPHA:230
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Iron deficiency anemia	ORPHA:261584
Osteopetrosis, Autosomal Recessive 7	Anemia, Splenomegaly	OMIM:612301
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte...	OMIM:263200
Monosomy 22	Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus	ORPHA:96123
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:619525
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Intestin...	ORPHA:2255
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Cleft palate, Thrombocytopenia, Absent gallbladder, Cryptorchidism	ORPHA:163979
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Absent gallbladder, C...	OMIM:600001
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Senior-Boichis Syndrome	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Esophageal varix, Cho...	ORPHA:84081
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Cleft palate, Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum	OMIM:617925
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly...	OMIM:620565
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Pallor, Increased body weight	ORPHA:263455
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma...	ORPHA:1572
Q Fever	Purpura, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Weight loss	ORPHA:781
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Anemia, Erythema	ORPHA:79396
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Skin ulcer, Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenome...	OMIM:615688
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Meckel Syndrome, Type 5	Cleft palate, Bile duct proliferation	OMIM:611561
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Trisomy 10P	Rectovaginal fistula, Gastroesophageal reflux, High palate, Dysphagia, Absent gallbladder	ORPHA:171929
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu...	ORPHA:447
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	High palate, Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exo...	OMIM:618500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Gaucher Disease Type 3	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	ORPHA:77261
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Gastriti...	ORPHA:809
Juvenile Polyposis Of Infancy	Cachexia, Refractory anemia, Anemia	ORPHA:79076
Zttk Syndrome	Optic atrophy, Intestinal atresia, High palate, Bifid uvula, Absent gallbladder, Submucous cleft ...	OMIM:617140
Craniofacioskeletal Syndrome	Absent gallbladder, Cleft palate, Cryptorchidism	OMIM:300712
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Cyclopia, Iris coloboma	ORPHA:3186
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating hepatic tr...	OMIM:613471
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:273
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Retinoblastoma, High palate, Anal atresia, Abnormal retinal morpho...	ORPHA:96176
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Thrombocytopenia, Splenomegaly, Microcytic anemia, Erythema	OMIM:256040
Somatostatinoma	Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Atelis Syndrome 2	Anemia, Gastroesophageal reflux, High palate, Remnants of the hyaloid vascular system, Thrombocyt...	OMIM:620185
8P11.2 Deletion Syndrome	Retinal dystrophy, Spherocytosis, High palate, Splenomegaly, Cryptorchidism, Hemolytic anemia, Ir...	ORPHA:251066
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Failure to thrive,...	OMIM:620376
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Kikuchi-Fujimoto Disease	Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Weight loss, Erythema, Neutrop...	ORPHA:50918
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Oculopalatocerebral Syndrome	Cleft palate, Remnants of the hyaloid vascular system	OMIM:257910
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia	OMIM:175050
Agammaglobulinemia, X-Linked	B lymphocytopenia, Neutropenia, Anemia, T lymphocytopenia	OMIM:300755
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Gastroesophageal reflux, Ocular albinism, Hepatospl...	OMIM:608233
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization, Cleft palate	OMIM:619074
Rheumatic Fever	Pallor, Erythema	ORPHA:3099
Autosomal Dominant Kenny-Caffey Syndrome	Anemia	ORPHA:93325
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Decreased liver function, Elevated circulating hepatic transaminase concentration,...	OMIM:618329
Irida Syndrome	Pallor	ORPHA:209981
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena, Elevated circulating hepati...	OMIM:276700
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Abetalipoproteinemia	Failure to thrive, Anemia, Acanthocytosis, Reticulocytosis	ORPHA:14
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Weight loss	ORPHA:276621
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,...	ORPHA:3261
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Williams Syndrome	Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Tracheoesophageal fistula...	ORPHA:904
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro...	ORPHA:699
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Optic atrophy, Cholecystitis	ORPHA:309271
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anemia, Iron deficiency anemia	ORPHA:79408
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, High palate, ...	OMIM:261515
Meckel Syndrome, Type 4	Cleft palate, Bile duct proliferation	OMIM:611134
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas...	ORPHA:91495
Tetrasomy 9P	Abnormal chorioretinal morphology, Jaundice, Biliary atresia, High palate, Median cleft palate, C...	ORPHA:3310
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Hypoplasia of the thymus, Increased mean pla...	ORPHA:84064
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Fanconi Anemia	Anemia, Thrombocytopenia, Leukopenia, Weight loss, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Tay-Sachs Disease	Pallor	OMIM:272800
Vacterl/Vater Association	Abnormality of the gallbladder, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Cleft...	ORPHA:887
Fg Syndrome Type 1	Gastroesophageal reflux, Small pituitary gland, Optic nerve hypoplasia, High palate, Anal atresia...	ORPHA:93932
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Abnormal mesentery morphology, Cleft palate, Cryptorchidism	ORPHA:2075
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Weight loss	ORPHA:29072
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Bile duct proliferation, Polycystic liver disease, Retinal degeneration, Hepatic fibros...	OMIM:208500
Oculo-Palato-Cerebral Syndrome	Retinal detachment, High, narrow palate, Cleft palate, Remnants of the hyaloid vascular system	ORPHA:2714
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Gastroesophageal reflux, Optic nerve hypoplasia, Bifid uvula, Cleft palate, Dyspha...	ORPHA:500150
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Ileus	ORPHA:163746
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hypoparathyroidism, Hepatocellular ca...	OMIM:277900
Gitelman Syndrome	Failure to thrive, Iron deficiency anemia	ORPHA:358
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Peters-Plus Syndrome	Bilobate gallbladder, Retinal coloboma, Biliary tract abnormality, Cleft palate, Cryptorchidism, ...	OMIM:261540
Alternating Hemiplegia Of Childhood	Failure to thrive, Pallor	ORPHA:2131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Meckel Syndrome, Type 1	Accessory spleen, Anal atresia, Asplenia, Bile duct proliferation, Intestinal malrotation, Cleft ...	OMIM:249000
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Gastritis, Anoperineal fistula, B lymph...	OMIM:619381
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Prolactinoma	Pallor	ORPHA:2965
Esophageal Atresia	Failure to thrive in infancy, Pallor, Small for gestational age	ORPHA:1199
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Neurofibroma	Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology, Intestinal bleeding, En...	ORPHA:252183
Histiocytoid Cardiomyopathy	Failure to thrive, Pallor	ORPHA:137675
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular h...	OMIM:203700
Marburg Hemorrhagic Fever	Petechiae, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis...	ORPHA:99826
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas...	ORPHA:90291
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal optic nerve morphology, Ret...	ORPHA:90340
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Spl...	OMIM:612132
Tsh-Secreting Pituitary Adenoma	Pallor, Weight loss	ORPHA:91347
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid vascular system, Epir...	ORPHA:637
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cleft palate, Submucous cleft so...	OMIM:603671
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Intrahepatic bile duct dilatation, Co...	OMIM:619534
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Intestinal polyposis, Abnormal optic nerve morphology, Hamartomatous polyposis, Ab...	ORPHA:109
Holoprosencephaly 2	Cyclopia, Anterior pituitary agenesis, Bilateral cleft palate, Remnants of the hyaloid vascular s...	OMIM:157170
Smith-Lemli-Opitz Syndrome	Optic atrophy, Abnormality of the gallbladder, Aganglionic megacolon, Gastroesophageal reflux, Py...	ORPHA:818
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormality of the gallbladder, Retinopathy, Cleft palate, Cryptorchidism, Abdomin...	ORPHA:280
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Bifid uvula, Submucous cleft hard pa...	OMIM:300166
Neuroocular Syndrome	Short uvula, Remnants of the hyaloid vascular system, Ankyloglossia, Hypoplasia of the fovea, Len...	OMIM:619539
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Retinal det...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

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 Tmcc2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tmcc2.

No publications found that use IMPC mice or data for Tmcc2.

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MGI Allele	Allele Type	Produced
Tmcc2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmcc2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tmcc2^{tm45181(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmcc2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tmcc2 MGI:1916125

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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MicroCT E18.5

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Human diseases caused by Tmcc2 mutations

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IMPC related publications

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