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Gene: Zfp36l2 MGI:107945

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Oocyte maturation arrest, Female infertility 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
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Pallor, Neutropenia, Erythroid hype... ORPHA:75564
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Diamond-Blackfan Anemia 18
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Primary Myelofibrosis
Bone marrow hypercellularity, Extramedullary hematopoiesis, Anorexia, Pallor, Ecchymosis, Abnorma... ORPHA:824
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... ORPHA:318
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Abnormality of thromboc... OMIM:612840
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Bruising susceptibility, Thrombo... OMIM:188000
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, A... ORPHA:98826
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... OMIM:619041
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Abn... ORPHA:398124
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytope... OMIM:231200
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Sple... OMIM:616050
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Megaloblastic bone marrow,... ORPHA:859
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Anorexia, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, A... ORPHA:520
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... ORPHA:90064
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Colitis, Thrombocytosi... OMIM:604416
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... ORPHA:88
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... OMIM:308240
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Po... ORPHA:35858
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reti... ORPHA:101096
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... OMIM:603909
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Vomiting, Bone marrow hypocellu... OMIM:243500
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... OMIM:610333
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chr... OMIM:619858
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increased mean ... OMIM:613839
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... ORPHA:85212
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:617014
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, F... ORPHA:79312
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomega... ORPHA:3226
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Poor appetite, Feeding dif... OMIM:606054
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Mala... ORPHA:79301
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... OMIM:620282
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal me... ORPHA:238459
Whim Syndrome 2
Myelokathexis, Chronic neutropenia OMIM:619407
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased... OMIM:187900
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Hypertension, Increased me... OMIM:617021
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Megakaryocyte dysplasia, ... OMIM:155100
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... OMIM:616740
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... ORPHA:721
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... ORPHA:163596
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, High-output congestive hear... ORPHA:231226
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, A... ORPHA:77259
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:616022
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Diarrhea, Paroxysmal at... ORPHA:49827
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Pet... OMIM:314050
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Dysphagia, Hypertrophi... OMIM:613561
Dengue Fever
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, A... ORPHA:99828
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decrea... ORPHA:90045
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytope... OMIM:614172
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... OMIM:275350
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Pyoderma ... OMIM:150550
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chronic constipat... ORPHA:209964
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Babesiosis
Nausea and vomiting, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, ... ORPHA:108
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Vomiting, Hepatic failure, Hepatic steatosis OMIM:617872
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... OMIM:606003
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Anemia, Neutro... ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal bleeding, Impaired T cell fun... OMIM:614576
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Megaloblastic bone marrow, Feeding di... ORPHA:2169
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... ORPHA:274
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Granulocytic hyperplasia OMIM:162830
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, ... OMIM:613989
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Diarrh... ORPHA:56425
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Lymphadenopathy, Hematuria, Anemia, Neoplasm ... ORPHA:69077
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Re... OMIM:557000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Pallor, Myeloid leukem... ORPHA:98849
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Feeding difficulties, Gastroesophageal reflux, Panhypogammaglobulinemia ORPHA:251009
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal bleeding, Anemic pallor, Anemia of inadequate production, Leukoc... ORPHA:86839
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Feeding difficul... OMIM:613845
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Reduced natural killer cell activity, Spl... ORPHA:540
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Abdominal pain, Malabsorption, Leukocyto... ORPHA:2070
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... OMIM:618986
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, Methylmalonic aciduria, A... OMIM:251110
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain... ORPHA:319218
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Letterer-Siwe Disease
Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thro... OMIM:246400
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Aminoaciduria,... OMIM:603585
Malaria
Anemia, Acute kidney injury, Thrombocytopenia, Nausea and vomiting ORPHA:673
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D... OMIM:611590
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinur... OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... OMIM:619463
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Atrophic gas... OMIM:614700
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... ORPHA:85450
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposi... ORPHA:329971
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Sepsis In Premature Infants
Gastrointestinal dysmotility, Vomiting, Pallor, Neutropenia, Abnormal bleeding, Hepatomegaly, Leu... ORPHA:90051
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:304790
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Leuko... ORPHA:99812
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutrop... OMIM:600901
Relapsing Fever
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Abdominal... ORPHA:91547
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, ... OMIM:618116
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Steatorrhea, P... OMIM:260400
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Epistaxis, Abn... ORPHA:33226
Preeclampsia
Elevated hepatic transaminase, Helicobacter pylori infection, Proteinuria, Abdominal pain, Chroni... ORPHA:275555
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Abd... ORPHA:91138
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phenomenon, Leukocytosis, ... OMIM:615688
Whim Syndrome 1
Bone marrow hypercellularity, Myelokathexis, Decreased circulating antibody level, Neutropenia, D... OMIM:193670
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
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
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, ... ORPHA:169154
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Abnormal immunoglobuli... OMIM:242900
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, ... OMIM:603553
Specific Granule Deficiency 2
Absent neutrophil specific granules, Bone marrow maturation arrest, Anemia, Neutropenia, Intracta... OMIM:617475
Adult Idiopathic Neutropenia
Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abnormal ne... ORPHA:2688
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutrop... OMIM:227650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Myh9-Related Disease
Elevated hepatic transaminase, Prolonged bleeding time, Renal insufficiency, Spontaneous, recurre... ORPHA:182050
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhe... ORPHA:54057
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Microcyti... ORPHA:90308
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop... OMIM:615387
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Feeding diff... OMIM:251100
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... OMIM:607426
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90037
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Dilated ... OMIM:615895
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Malabsorption, Chronic diarrhe... ORPHA:47
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Pyoderma gangren... ORPHA:486
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Inc... ORPHA:99827
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e... OMIM:613502
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Thrombocytopenia OMIM:615085
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... OMIM:278000
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Thrombo... ORPHA:858
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... OMIM:153670
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Abnormal large int... ORPHA:2198
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Spontaneous, recurrent epistaxis, ... ORPHA:849
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Ca... ORPHA:27
Gastrointestinal Stromal Tumor
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Tracheoesophageal fistula, Me... OMIM:277380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leuk... OMIM:251000
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Granulocytic hyperplasia, Anemia, Impaire... OMIM:226990
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Bone ma... OMIM:227645
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Tufted Angioma
Megakaryocytopenia, Petechiae, Thrombocytopenia, Hyperhidrosis, Anemia, Purpura ORPHA:1063
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Dysphagia, Neonatal death, Pulmonary arterial hypertension,... OMIM:619751
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Ma... ORPHA:229717
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Hepatitis, Cholesta... ORPHA:292
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, ... ORPHA:99931
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congest... ORPHA:90033
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni... OMIM:605432
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... ORPHA:47612
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Prolonged bleeding time, Pericarditi... ORPHA:809
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb... OMIM:214500
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Pancytopenia, Hypospadias, Feeding difficulties, Anemia, Dry skin, Petechiae OMIM:620331
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Sea... ORPHA:158029
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Immunodeficiency 91 And Hyperinflammation
Megakaryocytopenia, Acute hepatic failure, Renal insufficiency, Neutrophilia, Membranoproliferati... OMIM:619644
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... ORPHA:774
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Gray Platelet Syndrome
Myelofibrosis, Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet agg... OMIM:139090
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Hyperhidrosis... ORPHA:2330
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia ORPHA:67048
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Hepatomegaly, Abnormal EKG, Nephrotic ... ORPHA:85443
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Thrombocytopenia,... ORPHA:508542
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia OMIM:616949
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Abdominal pain, Polycythemia ORPHA:90042
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Abdominal pain, Thrombocytopenia, Diarrhea, V... ORPHA:83313
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Feeding difficulties, Normochromic anemia, Gastroesophageal reflux, Neutr... OMIM:614857
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Chromosome 5Q Deletion Syndrome
Megakaryocyte nucleus hypolobulation, Erythroid hypoplasia, Anemia of inadequate production, Refr... OMIM:153550
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... OMIM:613990
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... ORPHA:99745
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Livedoid Vasculopathy
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Skin ulcer, Hypertension, Ischemic stroke... ORPHA:542643
Hyperlysinemia, Type I
Hyperlysinuria, Anemia OMIM:238700
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Fe... OMIM:617052
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylgluta... OMIM:246450
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi... ORPHA:447
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Nausea and vomiting, G... ORPHA:537
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Ectopic kidney, Esophageal atresia, Annular pancreas, Reticulocytope... OMIM:227646
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Er... ORPHA:449285
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... ORPHA:167
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia OMIM:314000
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Anemia, Purpura OMIM:614514
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, He... OMIM:615846
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Oligosacchariduria, Hepatosplenomegaly, Recurrent gastroenter... ORPHA:309288
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... ORPHA:67044
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... ORPHA:131
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Vo... ORPHA:1059
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Nausea and vomiting, G... ORPHA:36426
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Feeding difficulties in infancy, Neutropenia, Steatorrhea, Exocrin... OMIM:618752
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... OMIM:277480
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Thr... OMIM:614520
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity OMIM:616553
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia OMIM:209300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Renal insufficiency, Anemia, Hepatomegaly ORPHA:2123
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... OMIM:224230
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Diarrhea, Skin ulcer, Decreased circulating antibody l... ORPHA:33355
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bangstad Syndrome
Pancytopenia OMIM:210740
Prolidase Deficiency
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid... OMIM:170100
Cyclic Neutropenia
Cyclic neutropenia, Abdominal pain, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recu... ORPHA:2686
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Anemia, Leukopenia, Nephrotic ... OMIM:617303
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Feeding difficultie... OMIM:613385
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenom... ORPHA:3386
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia, Purpura ORPHA:3204
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... OMIM:112200
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Tularemia
Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal... ORPHA:3392
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hem... OMIM:185070
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn... OMIM:614727
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A... OMIM:276700
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Atelis Syndrome 1
Feeding difficulties, Anemia, Leukopenia, Dry skin, Thrombocytopenia OMIM:620184
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocytopenia OMIM:615750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of ... ORPHA:247691
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ... ORPHA:37748
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia OMIM:152700
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties... ORPHA:3260
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo... ORPHA:2137
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Aminoaciduria, Ga... OMIM:249270
Necrotizing Enterocolitis
Shock, Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Brad... ORPHA:391673
Aicardi-Goutieres Syndrome 5
Feeding difficulties in infancy, Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... ORPHA:293173
Lig4 Syndrome
Pancytopenia, Telangiectasia, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia OMIM:606593
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochez... OMIM:617718
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Myocardial infarction, Abdomin... ORPHA:3452
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylmalonic acidu... ORPHA:79284
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Anore... ORPHA:20
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating a... ORPHA:77261
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso... ORPHA:443811
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... ORPHA:480520
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Hypertension, Acute kidney injury,... OMIM:618886
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia OMIM:188025
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Fanconi Anemia, Complementation Group P
Pancytopenia, Pelvic kidney, Anemia, Horseshoe kidney OMIM:613951
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-n... OMIM:607594
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Diamond-Blackfan Anemia 11
Granulocytic hypoplasia, Unilateral renal agenesis, Anemia of inadequate production, Bone marrow ... OMIM:614900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Increased ci... OMIM:209950
Plummer-Vinson Syndrome
Poor appetite, Abdominal pain, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal ... ORPHA:54028
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnorm... ORPHA:54251
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Myelofibrosis
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Rosaï-Dorfman Disease
Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Noonan Syndrome 12
Feeding difficulties in infancy, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Hypoplasia of penis, Renal insufficiency, Telangiectasia of the skin, Renal hypopla... ORPHA:85321
3-Methylglutaconic Aciduria, Type Viia
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Facial erythema, Increased circulating IgG level, Increa... ORPHA:284227
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Lymphangioma, ... ORPHA:464329
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Megaloblastic bone marrow, Anorexia ORPHA:79283
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Raynaud phen... ORPHA:1855
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalci... ORPHA:445038
Castleman Disease
Myelofibrosis, Nausea and vomiting, Renal insufficiency, Abnormality of the gastrointestinal trac... ORPHA:160
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Steatorrhea, Prolonged prothrombin time, Neutropenia, ... OMIM:617941
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Bone marrow maturation arrest, Congestive heart failure, Feeding difficulties,... OMIM:616271
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Eso... ORPHA:974
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Griscelli Syndrome
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis... ORPHA:381
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Pyoderma gangrenosum, Decreased circulating anti... OMIM:616576
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ... OMIM:619281
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract... OMIM:209920
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Acral ulceration... ORPHA:91139
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice... ORPHA:1667
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Hematuria, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612926
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anemia ORPHA:28
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Diarrhea, Cholestasis, Anemia, Vomiting, Decreased liver func... OMIM:608104
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic... ORPHA:263501
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulce... ORPHA:99867
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L... OMIM:603554
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Shigellosis
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ... ORPHA:810
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Decreased CD4:CD8 ratio, R... OMIM:608233
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Enlarged tonsils, Proximal renal tubular acidosis, Nephrolithiasis, A... ORPHA:2785
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Esophageal str... OMIM:615816
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Rectal prolaps... ORPHA:79076
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platele... OMIM:210250
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612924
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 22
Pericarditis, Abscess, Diarrhea, Protracted diarrhea, Anemia, Capillary leak, Decreased circulati... OMIM:615758
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Feeding difficulties, Syncope, Pallor, Palpita... ORPHA:276575
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Tachycardia, Diarrhea, Dilated cardiomyopathy, Erythema, Vomiting, Episodic vomiting OMIM:618321
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Feeding difficulties, Syncope, Pallor, Palpita... ORPHA:276556
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensio... OMIM:212350
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100082
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophage... ORPHA:2072
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Anorexia, Leukocytosis, Diarrhea, Hypertension, Vomiting, Pallor, Hypote... ORPHA:134
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Mitral stenosis, Hepatomegaly OMIM:231005
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Abnormal bleeding, Spontaneous, recurrent epistaxis,... OMIM:616937
Angioma, Hereditary Neurocutaneous
Hematuria, Gastrointestinal hemorrhage OMIM:106070
Acute Radiation Syndrome
Abnormal bleeding, Diarrhea, Skin ulcer, Telangiectasia, Vomiting, Scaling skin, Granulocytopenia... ORPHA:454831
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Mirage Syndrome
Hypospadias, Petechiae, Esophageal stricture, Chronic diarrhea, Anemia, Leukopenia, Intracranial ... OMIM:617053
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Malabsorption, Splenomegaly, Hyperhidros... ORPHA:2796
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Urinary incontinence, Feeding difficulties OMIM:620368
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Feeding difficulties, Syncope, Pallor, Palpita... ORPHA:276580
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Malabsorpti... ORPHA:97282
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Stage 5 chronic ki... OMIM:222700
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Gastrointestinal hemorrhage, Intesti... ORPHA:97280
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz... ORPHA:50918
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestiv... OMIM:611126
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Anemia OMIM:619113
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in presence... OMIM:615952
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Dysp... OMIM:222300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Wolfram Syndrome
Gastrointestinal hemorrhage, Dysuria, Malabsorption, Feeding difficulties in infancy, Abnormal me... ORPHA:3463
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomiting, Neut... ORPHA:37042
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Recurrent aphthous stomatitis, Neutropenia OMIM:614868
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Esophageal stricture, Urethral steno... OMIM:305000
Autosomal Agammaglobulinemia
Malabsorption, Diarrhea, Hepatitis, Agammaglobulinemia, Neutropenia ORPHA:33110
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Diarrhea, Schistocytosis, Hypertension, Micro... OMIM:235400
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Anemia ORPHA:1046
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... OMIM:603278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea... OMIM:226300
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Increased circulating IgG level, Colitis, Lymphocytosis, Increased ... ORPHA:3261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, He... ORPHA:79259
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Gastrointestinal hemorrhage, Intesti... ORPHA:97283
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia, Purpura ORPHA:375
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Abnormal rena... OMIM:617397
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Hypohidrosis OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Panniculitis,... OMIM:617591
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Pancytopenia, Proteinuria, Abdominal pain, Feeding difficulties ... ORPHA:355
Acquired Methemoglobinemia
Tachycardia, Abdominal pain, Syncope, Vomiting, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... ORPHA:544482
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia... OMIM:613179
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Hematuria, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Alg8-Cdg
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Diarrhea, Cutis laxa, A... ORPHA:79325
Hereditary Coproporphyria
Dark urine, Tachycardia, Small intestinal dysmotility, Abdominal pain, Porphyrinuria, Increased u... ORPHA:79273
Diamond-Blackfan Anemia 7
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Esophagitis, Neutropenia,... OMIM:612562
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ... ORPHA:562
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Aganglionic megaco... OMIM:250250
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Atrial fibrillation, Splenomega... ORPHA:525731
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Intracranial hemorrhage, Neutropenia, A... ORPHA:1163
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Feeding difficulties, Syncope, Pallor, Palpita... ORPHA:324575
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Feeding difficulties in infancy, Splenome... OMIM:225750
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Developmental Delay, Hypotonia, And Impaired Language
Constipation, Feeding difficulties, Gastroesophageal reflux, Neutropenia OMIM:620012
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Increased urinary glycerol, Keton... ORPHA:247598
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Myocarditis, V... ORPHA:781
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Feeding difficulties in infancy, Congestive h... ORPHA:60041
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Feeding difficulties in infancy, Normochromic anemia, Bradycardia, ... OMIM:618775
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Micropenis, Thrombocytopenia, Duo... OMIM:300514
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre... ORPHA:79319
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Non-Functioning Paraganglioma
Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart f... ORPHA:94080
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... ORPHA:90038
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Hyperhidrosis, Leukopenia, Vomiting, Ecchymosis, Nausea, Excess... ORPHA:319213
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Bone marrow hypocellularity, Pallor, Neutropenia, Vesicourete... OMIM:609053
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... OMIM:251880
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Dry skin, Lymphadenopat... ORPHA:39041
Takayasu Arteritis
Hypertensive crisis, Myocardial infarction, Anorexia, Vasculitis, Skin ulcer, Hyperhidrosis, Hype... ORPHA:3287
Zygomycosis
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nephritis, Nausea, Brain absc... ORPHA:73263
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Prolonged prothrombin ... OMIM:267700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... ORPHA:99901
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Diarrhea, Thymoma, Decreased circulat... ORPHA:169105
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati... OMIM:610377
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor, Hyperhidrosis ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Feeding difficulties, Anemia, Aminoaciduria, Elevated hepatic iron ... OMIM:614946
Pediatric Systemic Lupus Erythematosus
Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Abdomina... ORPHA:93552
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Mitochondrial Complex I Deficiency, Nuclear Type 33
Feeding difficulties, Hypospadias, Dysphagia, Neutropenia OMIM:618253
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia ORPHA:51208
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Chronic diarrhea, Agammaglobulinemia, T lymphocy... OMIM:300755
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... OMIM:613471
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Stt3B-Cdg
Micropenis, Thrombocytopenia, Feeding difficulties ORPHA:370924
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Epistaxis, A... ORPHA:727
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... ORPHA:892
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Constipation, Anemia OMIM:614450
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi... OMIM:251290
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphade... ORPHA:514
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Hepatic melanin-like lyso... OMIM:208085
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Bone marrow hypocellularity, Thro... ORPHA:3322
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia, Feeding difficulties OMIM:615597
Immunodeficiency 67
Transient neutropenia, Liver abscess, Increased circulating IgE level OMIM:607676
Rift Valley Fever
Elevated hepatic transaminase, Abnormal bleeding, Anorexia, Hematemesis, Jaundice, Hepatitis, Ret... ORPHA:319251
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis OMIM:606996
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Intestinal malrotation, Portal hypertension, Esophag... OMIM:613658
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Abnormality of the ur... OMIM:175200
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Chronic constipation, Gastroesophageal reflux, Thrombocytopenia, Feeding difficulties OMIM:616577
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate OMIM:618182
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Umbilical hernia, Microp... OMIM:300519
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Pyloric stenosis, Feeding difficulties, Neutropenia... OMIM:616395
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Skin ulcer, Abnormality of t... ORPHA:228119
Immunodeficiency 55
Absent natural killer cells, Diarrhea, Dry skin, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splen... ORPHA:1451
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Peripheral Cone Dystrophy
Pallor OMIM:609021
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Abnormal number of granulocyte precursors, Bloody diarrhea, Leukopenia, Vo... ORPHA:99826
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Gastro... OMIM:619488
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Pallor, Nausea OMIM:500007
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Yellow Fever
Anuria, Vomiting, Internal hemorrhage, Nausea, Abnormal bleeding, Neutrophilia, Elevated circulat... ORPHA:99829
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increased mean corpuscular he... ORPHA:90041
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess... ORPHA:67
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Brucellosis
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Abnormality of the liver, Increased circulati... ORPHA:1304
Granulomatosis With Polyangiitis
Granulomatosis, Ureteral stenosis, Abdominal pain, Vasculitis, Skin ulcer, Nausea and vomiting, R... ORPHA:900
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Hyperhidrosis, Pallor, Arrhythmia ORPHA:29822
Seckel Syndrome 1
Pancytopenia, Hypospadias OMIM:210600
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume OMIM:273900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Hypospadias, Anemia OMIM:620135
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... ORPHA:298
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Cohen Syndrome
Feeding difficulties in infancy, Leukopenia, Neutropenia OMIM:216550
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Diarrhea, Functional abnormality of the gastrointestinal tract, Facial erythema,... ORPHA:221008
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Cervical lymphadenopathy, Chronic diar... OMIM:142680
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Pallor ORPHA:71518
Overlap Myositis
Elevated hepatic transaminase, Raynaud phenomenon, Leukopenia, Hypertension, Dysphagia, Pulmonary... ORPHA:206572
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Abdo... ORPHA:83469
Porphyria Variegata
Elevated hepatic transaminase, Neurogenic bladder, Tachycardia, Abdominal pain, Chronic kidney di... ORPHA:79473
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Hypospadias, Dysphagia, Renal tubular acidosis, Gastroesophageal r... OMIM:615471
Optic Atrophy 1
Pallor OMIM:165500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Panniculitis, Small vessel vasculitis, An... OMIM:608068
Bacterial Toxic-Shock Syndrome
Shock, Renal insufficiency, Tachycardia, Glomerulonephritis, Nausea, Abdominal pain, Abscess, Myo... ORPHA:36234
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Dysphagia, Feeding d... OMIM:618460
Avian Influenza
Elevated hepatic transaminase, Abdominal pain, Congestive heart failure, Diarrhea, Hepatitis, Leu... ORPHA:454836
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Anemia... OMIM:613092
Ollier Disease
Lymphangioma, Skin ulcer, Anemia ORPHA:296
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... OMIM:612561
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Feeding difficulties, Neutropenia OMIM:617050
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Telangiectasia, Neutropenia OMIM:604173
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Hypospadias, Feeding difficulti... OMIM:301056
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Adenohypophysitis
Orthostatic hypotension, Poor appetite, Normochromic anemia, Hyposthenuria, Pallor, Nausea ORPHA:95512
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Malnutrition, Steatorrhea,... OMIM:612714
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease OMIM:613148
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Abnormality of thrombocytes,... ORPHA:79430
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Abdominal pain, Transie... OMIM:301500
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, Anemia, Hypohidrosis ORPHA:99688
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... OMIM:230900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Pulmonary emboli... ORPHA:79282
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neu... OMIM:607944
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abdominal pain, Malabs... ORPHA:873
Vexas Syndrome
Macrocytic anemia, Megakaryocyte dysplasia, Arteritis, Thrombocytopenia OMIM:301054
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Congestive heart failu... ORPHA:391487
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Anemia ORPHA:510
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Neonatal death, Hep... OMIM:608013
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, D... ORPHA:90062
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Anorex... OMIM:181000
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Diarrhea, Hyperhidrosis, R... ORPHA:263455
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micr... OMIM:192315
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Abnormal... ORPHA:1775
Muckle-Wells Syndrome
Hepatomegaly, Abdominal pain, Splenomegaly, Vasculitis, Nephrotic syndrome, Recurrent aphthous st... ORPHA:575
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Rothmund-Thomson Syndrome
Aplastic anemia, Telangiectasia of the skin, Nasogastric tube feeding in infancy, Diarrhea, Vomit... ORPHA:2909
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Leigh Syndrome
Dysphagia, Congestive heart failure, Gastrointestinal dysmotility, Lacticaciduria, Methylmalonic ... ORPHA:506
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Panhypophysitis
Orthostatic hypotension, Poor appetite, Normochromic anemia, Hyposthenuria, Pallor, Nausea ORPHA:95513
Fanconi Anemia, Complementation Group N
Aplastic anemia OMIM:610832
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Diarrhea, Erythema, Functional abnormality of the gastrointestinal tract, Facial... ORPHA:221016
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, ... OMIM:603903
Sheehan Syndrome
Orthostatic hypotension, Poor appetite, Normochromic anemia, Hyposthenuria, Constipation, Pallor,... ORPHA:91355
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Anemia, Leukopenia, Microphallus, Bone marrow hypocellularity, Vesicoureteral r... OMIM:603467
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... OMIM:232240
Fumarase Deficiency
Necrotizing enterocolitis, Increased urine succinate level, Intrahepatic cholestasis, Elevated ur... OMIM:606812
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ... OMIM:619573
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Decreased liver function, Anemia OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Decreased liver function, Anemia OMIM:618835
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Abnormality of thrombocytes, Sudden cardiac death, ... ORPHA:758
Peripartum Cardiomyopathy
Tachycardia, Abdominal pain, Right ventricular failure, Cardiogenic shock, Congestive heart failu... ORPHA:563
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Hepatosplenomeg... ORPHA:31150
Pituitary Apoplexy
Nausea and vomiting, Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Increased circulating IgM level, Heparan sulfa... ORPHA:505248
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Zika Virus Disease
Increased circulating IgM level, Vomiting, Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Raynaud phenomenon, Follicular hyperplasia, Erythema, Telangiect... OMIM:615934
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Tarp Syndrome
Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney, Abnormal duodenum morphology ORPHA:2886
Wilson Disease
Acute hepatic failure, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anemia, Hepatomegaly... OMIM:277900
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor, Pulmonary arterial hypertension, Bruising su... ORPHA:667
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... ORPHA:79095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Dia... ORPHA:264580
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestina... OMIM:612199
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Abdominal pain, Urinary bladder ... ORPHA:99921
Vici Syndrome
Decreased circulating IgG level, Congestive heart failure, Decreased circulating IgG2 level, Dila... OMIM:242840
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Oligosacchariduria, Hepatosplenomegaly, Mitral regurgitation,... ORPHA:309282
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Feeding difficulties, Persistence of hemoglobin F, Gastroesophageal reflux, Increa... OMIM:619769
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho... OMIM:620005
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Abdominal pain, Increased circulating IgA level, Leukocytosis, Chronic diarrhea, Va... OMIM:617099
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Nausea and vomiting, Leukocytosis, Thrombocytopenia, Cerebral vasculitis ORPHA:83601
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Organic aciduria, Thrombocytopenia, Anorexia ORPHA:79242
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Lead Poisoning
Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Imbalanced hemoglobin syn... ORPHA:330015
Rheumatic Fever
Nausea and vomiting, Pericarditis, Epistaxis, Anorexia, Abdominal pain, Myocarditis, Erythema, Ne... ORPHA:3099
Non-Functioning Pituitary Adenoma
Nausea and vomiting, Anemia of inadequate production, Vomiting, Pallor, Hypotension ORPHA:91349
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge... ORPHA:276621
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Pyoderma gangrenosum,... ORPHA:3243
Lysinuric Protein Intolerance
Bone marrow hypercellularity, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Vomiting,... ORPHA:470
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Abdom... OMIM:619377
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Bruising susceptibility ORPHA:230839
Whim Syndrome
Bone marrow hypercellularity, Abnormal small intestine morphology, Myelokathexis, Lymphadenitis, ... ORPHA:51636
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functiona... ORPHA:90362
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia, Feeding difficulties OMIM:617710
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Epistaxis, Abdominal pain, Hematochezia, Cardiomyop... OMIM:203300
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, ... ORPHA:440713
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lym... OMIM:601495
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Spi... ORPHA:175
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Anemia, Decreased urinary potassium OMIM:611489
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Proteinuria, ... OMIM:619487
Recon Progeroid Syndrome
Thrombocytopenia, Dry skin, Scaling skin, Anemia OMIM:620370
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Gastrointest... ORPHA:363705
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Poor appetite, Gastrointestinal dysmotility, Feeding difficulties, Chronic constipati... OMIM:617799
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial nephritis... ORPHA:289390
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea,... ORPHA:333
Nephronophthisis 1
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... OMIM:256100
Squamous Cell Carcinoma Of The Anal Canal
Abdominal pain, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of... ORPHA:424019
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising... OMIM:610733
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Dysphagia, Feeding difficulties, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria... OMIM:617248
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Palpitations, Myoglobinuria, Anemia OMIM:255125
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Hemophilia B
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma OMIM:306900
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Ab... ORPHA:46059
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Anemia, Thrombocytopenia OMIM:620072
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... ORPHA:275761
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Anorexia, First degree atrioventricular block, C... ORPHA:509
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Arrhythmia, Thrombocytopenia ORPHA:2307
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinenc... ORPHA:94093
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Oslam Syndrome
Anemia OMIM:165660
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Smith-Kingsmore Syndrome
Umbilical hernia, Decreased circulating IgA level, Thrombocytopenia, Feeding difficulties OMIM:616638
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia OMIM:613280
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer... OMIM:254900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Neutropenia, Umbilical herni... ORPHA:33364
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Feeding difficulties, Neutropenia OMIM:618005
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Chronic diarr... OMIM:619005
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... OMIM:619743
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Decreased circulating IgG1 level,... ORPHA:90363
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis OMIM:600501
Icf Syndrome
Abnormality of neutrophils, Malabsorption, Decreased circulating antibody level, Umbilical hernia... ORPHA:2268
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Reye syndro... ORPHA:348
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... OMIM:256700
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Feeding difficulties in infancy, Chronic diarrhea, Acute lymphoblas... OMIM:223370
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Gastroesophageal reflux, Pulmonic st... OMIM:620185
Familial Benign Copper Deficiency
Anemia ORPHA:1551
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Stomach cancer, Autoimmune thrombocytopenia, Raynau... ORPHA:331235
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Increased mean corpuscular vo... ORPHA:261250
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hema... ORPHA:536
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,... ORPHA:679
Behçet Disease
Aortic regurgitation, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Peri... ORPHA:117
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Gastrointestinal hemorrhage, Intesti... ORPHA:97278
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Gastrostomy tube feeding in infancy, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Hydatidiform Mole
Nausea and vomiting, Anemia ORPHA:99927
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Hepatic fibrosis, Nephron... OMIM:613550
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100080
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Holocarboxylase Synthetase Deficiency
Feeding difficulties in infancy, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylgly... OMIM:253270
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Erythema OMIM:614204
Senior-Loken Syndrome 8
Global glomerulosclerosis, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Pallo... OMIM:616307
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge... ORPHA:29072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Heart murmur, Anemia, Intracranial hemorrhage, Micropenis, Hydro... ORPHA:163979
Stiff-Person Syndrome
Hypertension, Tachycardia, Anemia, Hyperhidrosis OMIM:184850
Lynch Syndrome
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Nausea and vomiting, G... ORPHA:144
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Rena... ORPHA:79240
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Hypospadias, Mitral stenosis, Chronic constipation, Neutro... ORPHA:163956
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Feeding difficulties in infancy, Gia... OMIM:611209
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Splenomegaly, Leukocytosis, Peritonitis... OMIM:249100
Alport Syndrome 1, X-Linked
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypertensio... OMIM:301050
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis ORPHA:96168
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension, Gastric ulcer, Anemia OMIM:208060
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the colon, ... ORPHA:440437
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Fanconi Anemia, Complementation Group R
Pelvic kidney, Bone marrow hypocellularity, Anemia OMIM:617244
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... OMIM:263700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa... OMIM:220110
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u... ORPHA:913
Hyper-Igd Syndrome
Neutrophilia, Abdominal pain, Increased circulating IgA level, Splenomegaly, Leukocytosis, Chroni... OMIM:260920
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Anhidrosis, Sinus tachycardia, Nausea, Oliguria, Dry sk... ORPHA:466650
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoacid... OMIM:619991
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Feeding dif... ORPHA:847
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Pallor ORPHA:209981
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Anemia,... OMIM:606966
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Hepatosplenomegaly, Decreased circulating antibody... ORPHA:79330
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Feeding difficulties in infancy, Splenomegaly, Hyperca... OMIM:239200
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Pallor, Pulmonary hemorrhage, ... OMIM:233450
21Q22.11Q22.12 Microdeletion Syndrome
Feeding difficulties in infancy, Thrombocytopenia, Dry skin, Anemia ORPHA:261323
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,... OMIM:174000
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine... ORPHA:79277
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension ORPHA:36238
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni... ORPHA:935
Alg12-Cdg
Elevated hepatic transaminase, Hypospadias, Redundant skin, Intestinal malrotation, Abnormal circ... ORPHA:79324
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Arterial rupture, Thrombocytopenia OMIM:612394
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... ORPHA:137675
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Malabsorption... OMIM:619004
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Dysphagia,... OMIM:616457
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Anemia, Syncope... ORPHA:230
Immunoglobulin A Vasculitis
Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Anorexia, Abd... ORPHA:761
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Pulmonary emb... ORPHA:394
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Abdominal pain, Hematuria, Syncope, Renal arte... ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 41
Anemia OMIM:618838
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy,... ORPHA:52417
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Anorexia, Oral-pharyngeal dysp... ORPHA:95455
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Dravet Syndrome
Pallor ORPHA:33069
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Pulmonic stenosis, Hydron... OMIM:616737
Cohen Syndrome
Feeding difficulties in infancy, Neutropenia ORPHA:193
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... ORPHA:261584
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Gastroin... OMIM:229600
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Anemia OMIM:620366
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... ORPHA:797
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neopla... ORPHA:77293
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Diarrhea, T lymph... OMIM:251260
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... ORPHA:2131
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Aganglionic megacolon, Elevated urinary norepinephrine leve... ORPHA:653
Dubowitz Syndrome
Hypospadias, Abnormality of neutrophils, Malabsorption, Rectal prolapse, Chronic diarrhea, Dry sk... ORPHA:235
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Microcytic anemia, Abnormal isohemagglutinin level, Leukocytosis, Chr... ORPHA:99843
Tick-Borne Encephalitis
Elevated hepatic transaminase, Anorexia, Leukocytosis, Leukopenia, Increased circulating IgG leve... ORPHA:297
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Poor suck, Gastro... OMIM:301040
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... OMIM:243910
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy,... ORPHA:565
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia, Dysphagia ORPHA:572798
Herpes Simplex Virus Encephalitis
Nausea and vomiting, Leukocytosis, Neutrophilia ORPHA:1930
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Stomatitis OMIM:612852
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Increased circulating ... OMIM:256040
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal small intestine morpholo... ORPHA:90291
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Rat-Bite Fever
Pericarditis, Myocarditis, Diarrhea, Lymphadenitis, Anemia, Vomiting, Scaling skin, Pancreatitis,... ORPHA:31205
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Constipation, Thrombocytopenia, Gastrostomy tube feeding in infancy ORPHA:457351
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
20Q13.33 Microdeletion Syndrome
Hematochezia, Hypospadias ORPHA:261311
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Anemia, Congenital Dyserythropoietic, Type Iiia
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... OMIM:105600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Thrombocytopenia OMIM:301072
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Intestinal malrotation, Thrombocytopenia OMIM:147750
Ogden Syndrome
Redundant neck skin, Redundant skin, Microvesicular hepatic steatosis, Ventricular tachycardia, I... OMIM:300855
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Spina bifida, Pancreatic cysts, Thrombocytopenia, Leukocytosi... OMIM:274000
Kcnq2-Related Epileptic Encephalopathy
Feeding difficulties, Pallor, Facial erythema ORPHA:439218
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Horseshoe kidney ORPHA:3320
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Dysphagia ORPHA:13
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Stage 5 chronic kidney disea... OMIM:266900
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Multiple renal cysts, Hepatic hemangiom... OMIM:193300
Blau Syndrome
Pericarditis, Splenomegaly, Erythema, Xerostomia, Stage 5 chronic kidney disease, Skin ulcer, Lar... ORPHA:90340
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Diarrhea, Vacuolated lymphocytes, Mitral regurgitation, Neu... OMIM:208400
Plague
Abnormal bleeding, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly... ORPHA:707
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anorectal anomaly, Chronic diarrhea, Acute leukemi... ORPHA:647
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Agangl... ORPHA:84
Insulin-Resistance Syndrome Type B
Proteinuria, Increased circulating IgA level, Biliary cirrhosis, Leukopenia, Increased circulatin... ORPHA:2298
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Jacobsen Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Feeding difficulties in infan... ORPHA:2308
Primary Hyperoxaluria Type 1
Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Hematu... ORPHA:93598
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Excessive wrinkled skin,... OMIM:225400
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Chronic diarrhea, Hematuria, Melena, Corneal neovascularization OMIM:158310
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody ... OMIM:618183
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Bifid ureter, Spina bif... ORPHA:500095
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic ... ORPHA:51
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Abdominal pain, Abnormality of the lymphatic... ORPHA:538
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Renal cyst, Bifid ureter OMIM:617107
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Pyloric stenosis, Hiatus hernia, ... OMIM:122470
Jacobsen Syndrome
Pyloric stenosis, Annular pancreas, Hypospadias, Thrombocytopenia OMIM:147791
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Renal tubular acidosis, Chronic constipation, Feeding difficulties OMIM:619575
Prolactinoma
Nausea and vomiting, Vomiting, Pallor, Hypotension ORPHA:2965
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormality of the lympha... ORPHA:487796
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Xero... ORPHA:79078
Digeorge Syndrome
Renal insufficiency, Cholelithiasis, Unilateral renal agenesis, Impaired T cell function, Splenom... OMIM:188400
Fibular Hemimelia
Thrombocytopenia, Spina bifida ORPHA:93323
Oculocerebrorenal Syndrome Of Lowe
Renal insufficiency, Proteinuria, Malabsorption, Feeding difficulties in infancy, Thrombocytopeni... ORPHA:534
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm... ORPHA:424016
Childhood Absence Epilepsy
Pallor, Urinary incontinence ORPHA:64280
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Supraventricular arrhythmia, Congestive heart failure, Hyperhidrosis, Hypert... ORPHA:91347
Retinitis Pigmentosa 75
Pallor OMIM:617023
Tay-Sachs Disease
Pallor OMIM:272800
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Abnormal bleeding, Glomerulonephritis, Hemolytic-uremic syndrome, Periana... ORPHA:2968
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Unilateral renal agenesis, Feeding difficulties in i... ORPHA:508488
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadia... OMIM:163950
Osteogenesis Imperfecta
Aortic regurgitation, Intestinal obstruction, Cerebral hemorrhage, Nephrolithiasis, Hypercalciuri... ORPHA:666
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
Sponastrime Dysplasia
Decreased circulating antibody level, Hypospadias, Neutropenia ORPHA:93357
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Sh... ORPHA:652
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnormal biliary tract morphology ORPHA:252183
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:881
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congest... ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280

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 Zfp36l2

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 Zfp36l2.

No publications found that use IMPC mice or data for Zfp36l2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zfp36l2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Zfp36l2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zfp36l2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp36l2tm96769(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfp36l2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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