Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein 36, C3H type-like 2
Synonyms:
Brf2,  ERF2,  Tis11d

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zfp36l2 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.

The table below shows human diseases associated to Zfp36l2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154

The table below shows human diseases predicted to be associated to Zfp36l2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... ORPHA:75564
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anorexia, Hepatomegaly, Poikilocy... ORPHA:824
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Trimethylaminuria
Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pancytope... ORPHA:507
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... OMIM:618963
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal... OMIM:612840
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, B... ORPHA:318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... OMIM:619041
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Anemia of inadequate productio... ORPHA:98826
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Hepatic failu... ORPHA:398124
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur... OMIM:616050
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatospl... ORPHA:98850
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... ORPHA:859
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Hematuria, Neutropenia, Anorexia, Abdominal pain, Purpura, Stoma... ORPHA:520
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Dysplastic granulopoesis, Monocytosis, Thrombocytopenia, Bone marrow arrest at... OMIM:620534
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Decreased circulating IgG level, Aplastic anemia, Hemophagocyt... OMIM:308240
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ... ORPHA:90064
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Pyoderma ga... OMIM:604416
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Vomiting, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Abnormal bleeding, Bruising su... ORPHA:101096
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp... ORPHA:848
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia OMIM:189800
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myelofibrosis... OMIM:254450
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Isovaleric Acidemia
Bone marrow hypocellularity, Hyperglycinuria, Vomiting, Pancytopenia, Leukopenia, Cerebellar hemo... OMIM:243500
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:617014
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neut... ORPHA:1959
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... ORPHA:85212
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Vomiting, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, A... OMIM:617780
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal bone marrow cell morphology, Abnormal lymph node morphology... ORPHA:543
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Cirrhosis, ... OMIM:604250
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Nausea and vomiting, Hepatomegaly, P... ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Petechiae, Lymphadenopathy, Ne... ORPHA:79477
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Cardiomyopathy, Pancytopeni... OMIM:606054
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... OMIM:230800
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Whim Syndrome 2
Myelokathexis, Chronic neutropenia OMIM:619407
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties... OMIM:229050
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising... OMIM:187900
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Splenomegaly,... ORPHA:721
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency 46
Chronic diarrhea, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thrombo... OMIM:616740
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:616022
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Perica... ORPHA:163596
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... ORPHA:231226
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Megaloblastic anemia, ... ORPHA:49827
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia OMIM:614743
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... ORPHA:231214
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Pancytopenia, Pallor, Nausea and vomiting, Eosinophilia, Megal... ORPHA:90045
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... OMIM:613561
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep... ORPHA:99828
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... ORPHA:98870
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula... OMIM:614172
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibod... ORPHA:77259
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Methylmalonic aciduria, Pancytopenia, Decrea... OMIM:275350
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Chronic constipation, Rectal prolapse, Episodic abdomina... ORPHA:209964
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia OMIM:614675
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphaden... OMIM:150550
Babesiosis
Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Nausea ... ORPHA:108
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Pancytopenia, Hepatic steatosis, Hepatomegaly OMIM:617872
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Neutrophilia, Hereditary
Granulocytic hyperplasia, Splenomegaly, Neutrophilia OMIM:162830
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Dry skin, Pancytopenia... OMIM:613990
Methylcobalamin Deficiency Type Cble
Vomiting, Increased mean corpuscular volume, Pancytopenia, Megaloblastic bone marrow, Abnormality... ORPHA:2169
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... ORPHA:86843
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Nausea and vomiting, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, ... ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Abnormal bl... OMIM:614576
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Cold Agglutinin Disease
Diarrhea, Abnormal urinary color, Pallor, Splenomegaly, Nausea and vomiting, Lymphadenopathy, Hep... ORPHA:56425
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Pancytope... OMIM:613989
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Pearson Marrow-Pancreas Syndrome
Erythema, Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, 3-Methylglutar... OMIM:557000
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachyca... ORPHA:98849
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Panhypogammaglobulinemia, Pancytopenia, Hepatomegaly, Feeding difficulties ORPHA:251009
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo... ORPHA:86839
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Pancytopenia, Leukopenia, Proteinuria, Pulmonary arterial hypertension, P... OMIM:613845
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino... ORPHA:2070
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Panhypogammaglobulinemia, Lack of T cell function, Protracted d... ORPHA:572
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Abnormal bone marrow cell morphology, Diarrhea, Vomitin... ORPHA:79456
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Rhabdoid Tumor
Nausea and vomiting, Hematuria, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Lym... ORPHA:69077
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Hepatitis, Vomiting, Lymphopenia, Leuko... ORPHA:319218
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... ORPHA:2869
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal bleeding, Abnorma... ORPHA:86841
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia ORPHA:295
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pancyto... OMIM:614700
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Vomiting, Pancytopenia, Hepatomegaly, ... OMIM:251110
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia ORPHA:101028
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Decreased circulatin... OMIM:618116
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, Reticulocytosis, Ano... OMIM:611590
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy... OMIM:266200
Malaria
Anemia, Acute kidney injury, Nausea and vomiting, Thrombocytopenia ORPHA:673
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atro... OMIM:304790
Aicardi-Goutieres Syndrome 6
Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Feeding difficulties OMIM:615010
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Po... ORPHA:729
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased pla... OMIM:603585
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology... OMIM:613501
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... OMIM:601859
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Letterer-Siwe Disease
Abdominal distention, Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice... OMIM:246400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Whim Syndrome 1
Decreased circulating IgG level, Myelokathexis, Abnormal bone marrow cell morphology, Bone marrow... OMIM:193670
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase... ORPHA:331206
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Relapsing Fever
Epistaxis, Hypotension, Acute kidney injury, Abnormal bleeding, Elevated circulating hepatic tran... ORPHA:91547
Lig4 Syndrome
Erythema, Acute leukemia, Abnormal bone marrow cell morphology, Pancytopenia, Malabsorption, Leuk... ORPHA:99812
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor... OMIM:600901
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Smal... ORPHA:329971
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia OMIM:613987
Sepsis In Premature Infants
Diarrhea, Neutropenia, Abdominal distention, Hepatomegaly, Jaundice, Tachycardia, Purpura, Pallor... ORPHA:90051
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r... ORPHA:2924
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Persistence of hemoglo... OMIM:260400
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding, Leukemi... ORPHA:33226
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Reduced natural killer... OMIM:603553
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Gastrointestina... ORPHA:91138
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Abdominal pain, Purpura, Esophageal ... OMIM:615688
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, Lymphopenia, Megalo... OMIM:620603
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Psoriasiform lesio... ORPHA:169154
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Transient ischemic attack, Cerebral ischemia, Pa... OMIM:242900
Immunodeficiency 7
Diarrhea, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrope... OMIM:615387
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Methylmalonic Aciduria, Cbla Type
Vomiting, Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid lev... OMIM:251100
Specific Granule Deficiency 2
Intractable diarrhea, Bone marrow maturation arrest, Absent neutrophil specific granules, Thrombo... OMIM:617475
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor... OMIM:227650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Micropenis, Neutrope... OMIM:620501
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy... ORPHA:54057
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Abnormal urinary color, Pallor, Splenomegaly, Autoimmune hemolytic anem... ORPHA:90037
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Hem... ORPHA:90308
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Diarrhea, Bruising susceptibi... ORPHA:324636
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, P... OMIM:607426
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepat... OMIM:615895
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Aga... OMIM:613502
Tufted Angioma
Megakaryocytopenia, Petechiae, Hyperhidrosis, Thrombocytopenia, Anemia, Purpura ORPHA:1063
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
X-Linked Agammaglobulinemia
Skin ulcer, Hepatitis, Malabsorption, Abnormality of the lymphatic system, Agammaglobulinemia, Ab... ORPHA:47
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Hematuria, Neutrophilia, Hepatome... ORPHA:99827
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Nausea and vomiting, Macrocytic anemia, Hepatome... ORPHA:27
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... ORPHA:44890
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Adult Idiopathic Neutropenia
Abnormal bone marrow cell morphology, Granulocytic hypoplasia, Lymphopenia, Recurrent aphthous st... ORPHA:2688
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Recurrent infection of the... ORPHA:486
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Bruising susceptibility, Horseshoe kidney, Pancytopenia, Anemia, Ret... OMIM:227645
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Stomatitis, Impa... OMIM:308230
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatomegaly, Lymphadenopathy,... ORPHA:858
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Pulmonary arterial hypertension, Thrombocytopenia, Stil... OMIM:619751
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Granulocytic hyperplasia,... OMIM:226990
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Hepatomegaly, Tracheoesop... OMIM:277380
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Iron deficiency anemia, Glomerulonephrit... ORPHA:99931
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties OMIM:615085
Isolated Agammaglobulinemia
Diarrhea, Skin ulcer, Abnormal lymphocyte morphology, Malabsorption, Abnormality of the lymphatic... ORPHA:229717
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Petechiae, Splenomegaly, Hepa... ORPHA:294
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Nephrotic Syndrome, Type 7
Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopenia, Membranoproli... OMIM:615008
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Abnormal bleeding, Hepatitis, Cardiomyopathy, Cholestasis, Leukopen... ORPHA:292
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney di... OMIM:251000
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Mu-Heavy Chain Disease
Nephropathy, Abnormal bone marrow cell morphology, Bence Jones Proteinuria, Abnormal B cell count... ORPHA:100024
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Abnormal urinary color, Pallor, Splenomegaly, Autoimmune hemolytic anem... ORPHA:90033
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Megaka... OMIM:605432
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... OMIM:127550
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin, Abdominal pain ORPHA:90042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Hatipoglu Immunodeficiency Syndrome
Dry skin, Pancytopenia, Petechiae, Anhidrosis, Anemia, Hypospadias, Feeding difficulties OMIM:620331
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Congenital Syphilis
Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin, Malabsorpt... ORPHA:499009
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Xerostomia, Gastroesophage... ORPHA:809
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Megakaryocyte dysplasia, Congestive heart failure, Tricuspid regurgi... ORPHA:508542
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hep... OMIM:613812
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegal... ORPHA:158029
Boutonneuse Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Diarrhea, Cervical lymphaden... ORPHA:83313
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, A... ORPHA:537
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... OMIM:214500
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leuk... OMIM:259720
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Kasabach-Merritt Phenomenon
Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, ... ORPHA:2330
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Arrhythmia, Abdominal pain, Const... ORPHA:99745
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he... OMIM:619644
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Increased circulating antibody le... ORPHA:85443
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Minimal change glomerulonephritis, Hepatitis, Increased circulating I... OMIM:620565
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, Hepatomeg... ORPHA:100025
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, 3-Methylglutaconic aciduria, Decreased liver function, Cardiomyopathy ORPHA:67048
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia OMIM:616949
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Feeding difficulties, Pulmonary ... OMIM:614857
Livedoid Vasculopathy
Polycythemia, Skin ulcer, Macular purpura, Pancytopenia, Ischemic stroke, Leukocytosis, Ecchymosi... ORPHA:542643
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Bruising susceptibility, Horseshoe kidney, Pancyto... OMIM:227646
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's di... OMIM:619705
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Hemosiderinuria, Jaundice, Dysphagia, Acute kidney injury, ... ORPHA:447
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Hematochezia, Diarrhea, Hepatitis, Hypertrophic cardiomyopathy, P... OMIM:615846
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Erythema, Abnormal bleeding, Acute ... ORPHA:449285
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Ja... OMIM:250940
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Prolidase Deficiency
Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechia... OMIM:170100
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, A... ORPHA:36426
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Hyperspl... ORPHA:228426
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Megakaryocyte nucleus hypolobulation, Refractory macrocytic anemia, Anemia ... OMIM:153550
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothro... ORPHA:49566
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Abnormality of multiple cell l... ORPHA:67044
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenter... ORPHA:309288
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Abn... ORPHA:167
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Esophageal stenosis OMIM:616553
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Pancytopenia, Decreased circulating IgA level, Portal hyperte... OMIM:613385
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Prolonged bleedin... ORPHA:1059
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Umbilical hernia, Thrombocytopenia, Neutro... OMIM:614520
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal intestine morphology, Neutr... ORPHA:1830
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Congestive heart failure OMIM:209300
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Arrhythmi... ORPHA:3386
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Proteinuria, Neutrope... OMIM:301110
Reticular Dysgenesis
Diarrhea, Skin ulcer, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Anemia, Abnorm... ORPHA:33355
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Renal insufficiency, Thrombocytopenia ORPHA:2123
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnorm... ORPHA:699
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, E... OMIM:224230
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Bone marrow arrest at the promyelocytic stage OMIM:300299
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomy... OMIM:613673
Gamma-Heavy Chain Disease
Abnormal bone marrow cell morphology, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune he... ORPHA:100026
Bangstad Syndrome
Pancytopenia OMIM:210740
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia OMIM:616744
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes, Purpura ORPHA:3204
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614727
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Congestive heart fail... OMIM:617303
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties in infancy, Neutrophilia, Abdominal d... ORPHA:3260
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecch... OMIM:620514
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Abnorm... ORPHA:247691
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Hematuria, Subarachno... OMIM:185070
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Achalasia, Raynaud phenomenon, Thrombocytopenia, Dysphagia, Hypertension OMIM:615750
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Atelis Syndrome 1
Dry skin, Leukopenia, Thrombocytopenia, Anemia, Feeding difficulties OMIM:620184
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulat... ORPHA:37748
Lig4 Syndrome
Pancytopenia, Telangiectasia, Thrombocytopenia, Micropenis, Acute lymphoblastic leukemia OMIM:606593
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Reduced number of intrahepatic bile ducts, Int... ORPHA:79284
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive... OMIM:249270
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent... ORPHA:2137
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Renal insuffi... ORPHA:293173
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Elevated circulating h... ORPHA:20
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Splenomegaly, Hepatomegaly, An... ORPHA:3452
Wilson Disease
Elevated circulating hepatic transaminase concentration, Bruising susceptibility, Hepatitis, Acut... ORPHA:905
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Inflammation of the large intestine, Ce... OMIM:617718
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pericarditis OMIM:152700
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagitis, Decreased prop... ORPHA:443811
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Protei... ORPHA:77261
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Feeding difficulties in infancy, Thrombocytopenia OMIM:612952
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Immunodeficiency 27A
Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegal... OMIM:209950
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Pelvic kidney, Horseshoe kidney OMIM:613951
Necrotizing Enterocolitis
Hypotension, Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Shock, Leukocytos... ORPHA:391673
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,... ORPHA:275555
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis OMIM:259730
Pelger-Huet Anomaly
Giant platelets, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutr... OMIM:169400
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Congenital thrombocytopenia, Cereb... OMIM:618886
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90036
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Pyloric stenosis OMIM:188025
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Mitral regurgitation, Splenomegaly, Erythroid hypopl... OMIM:612541
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Plummer-Vinson Syndrome
Pallor, Iron deficiency anemia, Esophageal web, Hypochromic microcytic anemia, Abdominal pain, Dy... ORPHA:54028
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Decreased circulating a... OMIM:301081
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Sple... ORPHA:464329
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Facial erythema, Increased circulating IgG le... ORPHA:284227
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Anorexia, Hepatomegaly, Right ventricular failure, Tric... ORPHA:100075
Rosaï-Dorfman Disease
Anemia, Erythema, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Unilateral renal agenesis, Granulocytic hypoplasia, Anemia of inadeq... OMIM:614900
Anemia, Sideroblastic, And Spinocerebellar Ataxia