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Gene: Nfe2 MGI:97308

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor, erythroid derived 2

Synonyms:

NF-E2, p45, p45NFE2, p45nf-e2

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 Nfe2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nfe2 (0 diseases)
Human diseases predicted to be associated with Nfe2 (922 diseases)

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

The table below shows human diseases predicted to be associated to Nfe2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Myeloproliferative Disorder, Chronic, With Eosinophilia	Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder	OMIM:131440
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro...	OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia	OMIM:252270
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Persistence of hemoglobin F, Pallor, Abnormal bone structure, Anemia	ORPHA:46532
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ...	ORPHA:75564
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis	OMIM:616871
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia	OMIM:614743
Immunodeficiency 84	B-cell lymphoma, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphocy...	OMIM:619437
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia	ORPHA:98827
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Skin ulcer, Reduced bone ...	ORPHA:848
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno...	OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto...	OMIM:615631
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Storage Pool Platelet Disease	Decreased mean platelet volume, Myelodysplasia, Acute leukemia	OMIM:185050
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A...	ORPHA:98826
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio...	ORPHA:2133
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Primary Erythromelalgia	Leukemia	ORPHA:90026
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis, Recurrent infections	OMIM:606445
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased...	OMIM:187900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a...	ORPHA:1959
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf...	OMIM:155100
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis...	OMIM:608971
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi...	ORPHA:98870
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope...	OMIM:611490
Immunodeficiency 42	Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy...	OMIM:616622
Leishmaniasis	Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia...	ORPHA:507
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa...	ORPHA:49827
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, Anemia	ORPHA:163596
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmon...	OMIM:619751
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio...	ORPHA:824
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Gray Platelet Syndrome	Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy	OMIM:619302
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:1980
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Severe varicella zoste...	OMIM:615122
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt...	OMIM:619220
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a...	ORPHA:35858
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc...	ORPHA:86839
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula...	ORPHA:101096
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg...	OMIM:139090
Wt Limb-Blood Syndrome	Thrombocytopenia, Leukemia, Hypoplastic anemia, Pancytopenia	OMIM:194350
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias	OMIM:605724
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Lymphadenopath...	OMIM:240500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc...	OMIM:619164
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Erythema, Osteolysis, Anemia	ORPHA:158014
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, ...	OMIM:618116
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Death in infancy, Anemia, Death in childhood, Ne...	OMIM:617475
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re...	OMIM:269840
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:139406
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Fibrodysplasia Ossificans Progressiva	Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu...	ORPHA:337
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Aicardi-Goutieres Syndrome 3	Death in childhood, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis, Pallor	ORPHA:2786
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia	OMIM:613839
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenome...	OMIM:612840
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Fetal Gaucher Disease	Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Int...	ORPHA:85212
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture...	OMIM:202400
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis, Thrombocytopenia	OMIM:614727
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Nephronophthisis	Anemia	ORPHA:655
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T...	ORPHA:90045
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Leukemia, Meningioma	OMIM:602501
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Aicardi-Goutieres Syndrome 5	Dry skin, Flexion contracture, Scaling skin, Thrombocytopenia	OMIM:612952
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Pallor, Hypochromic a...	OMIM:600462
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Persistent EBV viremia...	OMIM:620282
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis	OMIM:617408
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Sengers Syndrome	Osteopenia, Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic c...	OMIM:212350
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Telangiectasia, Premature skin wrinkling, Thrombocytopenia	ORPHA:101028
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ...	ORPHA:229717
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa...	ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Tufted Angioma	Anemia, Thrombocytopenia, Petechiae, Purpura	ORPHA:1063
Primary Familial Polycythemia	Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin	ORPHA:90042
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count, Recurrent infections	OMIM:616452
Babesiosis	Hemolytic anemia, Myocardial infarction, Congestive heart failure, Splenomegaly, Limitation of jo...	ORPHA:108
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc...	ORPHA:520
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red...	OMIM:194380
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Increased circ...	ORPHA:37748
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141179
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia	OMIM:614742
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt...	ORPHA:54057
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia	ORPHA:3318
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splenomegaly, An...	OMIM:616050
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Severe varicella zos...	OMIM:615387
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Osteomyelitis, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Increased mean ...	ORPHA:182050
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Erythema, In...	ORPHA:449285
Activated Pi3K-Delta Syndrome	Hepatomegaly, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Lymphoma, L...	ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat...	ORPHA:90033
Acquired Purpura Fulminans	Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura...	ORPHA:49566
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,...	OMIM:619824
Rhabdoid Tumor	Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia	ORPHA:69077
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141184
Felty Syndrome	Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis...	ORPHA:47612
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor	ORPHA:99931
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased plat...	OMIM:603585
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Dry skin, Anemia	OMIM:620184
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, S...	ORPHA:296
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, Cardiomyopathy, Neutropenia,...	OMIM:606054
Sea-Blue Histiocytosis	Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia, Death in childhood	OMIM:246450
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ...	ORPHA:398124
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Optic Atrophy 1	Pallor	OMIM:165500
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ...	OMIM:226990
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive...	ORPHA:33226
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia, Purpura	ORPHA:3204
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Leukopenia, Arthritis, Thrombocytopenia	OMIM:152700
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B...	OMIM:616005
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv...	ORPHA:99828
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia	OMIM:610333
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia, Decreased circulating antibo...	OMIM:616576
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Anemia, Anemic pallor, Hematochezia	ORPHA:329971
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Anemia, Bradycardia...	ORPHA:90051
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibo...	OMIM:607594
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Relapsing Fever	Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopen...	ORPHA:91547
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Thymoma	Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobin synthesi...	ORPHA:99867
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia	OMIM:615750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia	ORPHA:79312
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Arrhythmia, Throm...	OMIM:249270
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, S...	OMIM:210250
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Anemia	ORPHA:27
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c...	OMIM:613011
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Preeclampsia	Hypertension, Elevated systolic blood pressure, Thrombocytopenia, Elevated diastolic blood pressure	ORPHA:275555
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Pseudo-Torch Syndrome 3	Death in infancy, Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, A...	OMIM:618886
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis	OMIM:618624
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Petechiae	OMIM:619463
Immunodeficiency 91 And Hyperinflammation	Death in infancy, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Death in child...	OMIM:619644
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,...	OMIM:150550
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Fractures of t...	ORPHA:464329
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au...	OMIM:619375
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r...	OMIM:619802
Tularemia	Brain abscess, Tachycardia, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:3392
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent inf...	OMIM:614699
Pyoderma Gangrenosum	Myeloid leukemia, Myelodysplasia	ORPHA:48104
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Recurrent mycobacterial infections, S...	ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Leukopenia, Anemia	ORPHA:33355
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hemochromatosis, Type 3	Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Recurrent viral inf...	OMIM:609981
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Limited prona...	OMIM:605432
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Thrombocytopenia, Prolonged QTc interval, Anemia	ORPHA:231111
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Skin ulcer, Anemia, Arthritis, Agammaglobul...	ORPHA:47
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Death in child...	OMIM:557000
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Anemia, Camptodactyly, Neonatal death, Thrombocytopenia	OMIM:608104
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Anemia	ORPHA:2668
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Arthritis, Co...	OMIM:304790
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia...	ORPHA:3260
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytope...	OMIM:242900
Prolidase Deficiency	Petechiae, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Skin ulcer, Increased circulat...	OMIM:170100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Retinal telangiectasia, Thrombocytopenia, Osteoporosis, Increased susceptibility to f...	OMIM:612199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Hepa...	OMIM:300635
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Bone marrow hypo...	OMIM:613989
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Infectious encephalitis	ORPHA:42642
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B...	OMIM:127550
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Dry skin, T...	OMIM:613990
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul...	OMIM:209950
Familial Hemophagocytic Lymphohistiocytosis	Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Decreased circulating antib...	ORPHA:540
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib...	OMIM:600901
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Acute Radiation Syndrome	Abnormal bleeding, Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymph...	ORPHA:454831
American Trypanosomiasis	Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Flexion contracture, Reticulocytopenia, Anemia, Bone marrow hypocell...	OMIM:227645
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Immunodeficiency 102	Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia, Death in childhood	OMIM:615597
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, C...	ORPHA:292
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope...	ORPHA:64743
Zika Virus Disease	Miscarriage, Subcutaneous hemorrhage, Increased circulating IgM level, Arthritis, Thrombocytopenia	ORPHA:448237
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib...	OMIM:227650
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura	OMIM:620296
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Boutonneuse Fever	Petechiae, Vasculitis, Leukopenia, Increased circulating IgG level, Increased circulating IgM lev...	ORPHA:83313
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Pal...	ORPHA:20
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Death in childhood, Hypertrop...	OMIM:611126
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Immunodeficiency 22	Pericarditis, Abscess, Capillary leak, Anemia, Decreased circulating total IgM, Decreased circula...	OMIM:615758
Mirage Syndrome	Radial club hand, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Anemia, Hypoplastic sple...	OMIM:617053
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Bone marrow hypocellularity, Thro...	ORPHA:3322
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os...	OMIM:260400
Wilson Disease	Splenomegaly, Anemia, Arthritis, Pathologic fracture, Bruising susceptibility, Thrombocytopenia	ORPHA:905
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Thrombocytopenia	OMIM:112200
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Pallor, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong...	ORPHA:90308
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Bone marrow hypocellularity, Portal hypertension, Hepatosplenomegaly	ORPHA:210136
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Decrea...	OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red...	OMIM:617052
Lig4 Syndrome	Leukocytosis, Lymphoma, Pancytopenia, Acute leukemia	ORPHA:99812
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Alg8-Cdg	Cutis laxa, Anemia, Camptodactyly, Premature skin wrinkling, Thrombocytopenia	ORPHA:79325
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Pro...	OMIM:301000
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Juvenile rheumatoid arthritis, Abnormal natu...	ORPHA:158061
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas...	OMIM:618048
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Cutis laxa, Anemia, Leukopenia, Hemophagocytosis...	OMIM:222700
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Beta-Ketothiolase Deficiency	Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Thrombocytopenia, Leukopenia, Pulmonary arterial hypertension, Anemia	OMIM:613845
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia	ORPHA:90060
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ...	OMIM:612561
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni...	OMIM:235400
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu...	OMIM:214500
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia	OMIM:618182
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t...	OMIM:614700
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphocytosis, Myeloproliferative disorder	ORPHA:79456
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Bruising susceptibility, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport...	ORPHA:79124
Pediatric-Onset Graves Disease	Atrial fibrillation, Craniosynostosis, Congestive heart failure, Splenomegaly, Neutropenia in pre...	ORPHA:525731
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Vasculitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia	ORPHA:324964
Cholesteryl Ester Storage Disease	Death in infancy, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, S...	OMIM:278000
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Liposarcoma	Sarcoma	ORPHA:69078
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Thrombocytopenia, Splenomegaly, Flexion contracture, Death in childhood...	OMIM:617303
Ataxia-Telangiectasia	Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the th...	OMIM:208900
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporo...	ORPHA:2796
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder	ORPHA:100924
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Recon Progeroid Syndrome	Joint laxity, Anemia, Scaling skin, Dry skin, Thrombocytopenia	OMIM:620370
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T...	OMIM:603554
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath...	ORPHA:2330
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Increased circulating antibod...	ORPHA:319218
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:251000
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,...	ORPHA:335
Vexas Syndrome	Arthritis, Macrocytic anemia, Arteritis, Thrombocytopenia	OMIM:301054
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Congestive heart failure, Thrombocytopenia, ...	ORPHA:1830
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia	OMIM:608068
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia, Myelodysplasia	OMIM:606593
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Microangiopath...	OMIM:274150
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Pure red cell aplasia, Recurrent...	OMIM:613179
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Gaucher Disease, Perinatal Lethal	Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mul...	OMIM:608013
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Arthritis, Pallor, Arrhythmia	ORPHA:3099
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Death in infancy, Anemia, Death in childhood	OMIM:614946
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Castleman Disease	Myelofibrosis, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocyto...	ORPHA:160
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Death in infancy, Splenomegaly, Decreased circulating total ...	OMIM:612301
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec...	OMIM:602450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Craniosynostosis, Abnormal left ventricular function, Leukopenia, Pulmonic s...	OMIM:301056
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ...	ORPHA:381
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Tachycardia, Pallor	ORPHA:263455
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Bradycardia, Petechiae	OMIM:617397
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m...	ORPHA:811
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Recurrent...	OMIM:618935
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Telangiectasia, Thrombocytopenia	OMIM:606003
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Death in infancy, Tricuspid regurgitation, Joint hypermobili...	OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Increased circul...	ORPHA:99827
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Flexion contracture, Anemia, Arthritis, Increased circulating antibody level, Lymph...	OMIM:617591
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Dravet Syndrome	Limited knee extension, Pallor	ORPHA:33069
Adenohypophysitis	Orthostatic hypotension, Pallor, Normochromic anemia	ORPHA:95512
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Anemia, Death in infancy	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Anemia	OMIM:618835
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro...	OMIM:618775
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Sph...	ORPHA:71275
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu...	OMIM:603553
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension	ORPHA:95613
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Arrhythmia, Thrombocytopenia, Synostosis of...	ORPHA:2307
Gaucher Disease	Abnormal bleeding, Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recur...	ORPHA:355
Rift Valley Fever	Abnormal bleeding, Miscarriage, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Increa...	ORPHA:319251
Overlap Myositis	Raynaud phenomenon, Hypertension, Leukopenia, Arthritis, Rheumatoid arthritis, Pulmonary arterial...	ORPHA:206572
Cog4-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Shwachman-Diamond Syndrome 2	Normocytic anemia, Death in infancy, Neutropenia, Prolonged prothrombin time, Death in childhood,...	OMIM:617941
Aicardi-Goutieres Syndrome 1	Petechiae, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Thrombocytopenia, Purpura	OMIM:225750
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Lead Poisoning	Miscarriage, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Increased circulating IgE lev...	ORPHA:330015
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas...	ORPHA:221008
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinom...	ORPHA:221016
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Osteomyelitis, Abscess, Myocarditis, Increased circulating myelocyte count, S...	ORPHA:36234
Panhypophysitis	Orthostatic hypotension, Pallor, Normochromic anemia	ORPHA:95513
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin	ORPHA:91355
Necrotizing Enterocolitis	Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia	ORPHA:391673
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T...	ORPHA:391487
Lujo Hemorrhagic Fever	Shock, Stiff neck, Excessive bleeding after a venipuncture, Myocarditis, Leukocytosis, Subconjunc...	ORPHA:319213
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia,...	OMIM:227646
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Dyskeratosis Congenita	Telangiectasia of the skin, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Sp...	ORPHA:1775
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis	OMIM:618042
Rothmund-Thomson Syndrome	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas...	ORPHA:2909
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Pallor, Hypotension	ORPHA:91349
Braddock-Carey Syndrome 1	Thrombocytopenia, Camptodactyly	OMIM:619980
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallo...	ORPHA:544482
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex	ORPHA:75508
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Arthrogryposis multiplex congenita, Thrombocytopenia, Death in infancy	OMIM:208085
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Congestive heart failure, Flexion contracture, Leukopenia, Prolonged prothromb...	OMIM:616271
Bloom Syndrome	Acute myeloid leukemia, Malignant genitourinary tract tumor, Decreased proportion of CD4-positive...	ORPHA:125
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Thrombocytopenia	ORPHA:96181
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra...	ORPHA:340
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thromb...	ORPHA:93552
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Leukocytosis, An...	ORPHA:1304
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Thrombocytopenia	ORPHA:83601
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Farber Disease	Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytopenia	ORPHA:333
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia...	OMIM:610377
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u...	OMIM:616100
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:306400
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Polycythemia Vera	Splenomegaly, Myelodysplasia, Acute leukemia	ORPHA:729
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency 40	Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombo...	OMIM:616433
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp...	OMIM:608233
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Congenital Erythropoietic Porphyria	Abnormal bleeding, Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Ost...	ORPHA:79277
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Radial dysplasia	OMIM:617244
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Q Fever	Pericarditis, Osteomyelitis, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Hepatosplen...	ORPHA:781
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Chédiak-Higashi Syndrome	Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Sple...	ORPHA:167
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Avian Influenza	Miscarriage, Congestive heart failure, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level	ORPHA:169105
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Petechiae	OMIM:251290
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia	OMIM:257300
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Thrombocytopenia, Anemia	OMIM:619743
Congenital Factor Xiii Deficiency	Myeloid leukemia	ORPHA:331
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos...	OMIM:617718
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Erythema, Skin ulcer, Anemia, Neutropenia, Thr...	ORPHA:537
Noonan Syndrome 4	Abnormal bleeding, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising susceptibility, Throm...	OMIM:610733
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sudden cardiac death, Abnormality of neutrophils, Myocardial infarct...	ORPHA:36426
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Joint stiffness, Congestive heart failure, Thrombocytopenia...	ORPHA:505248
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Shigellosis	Abscess, Myocarditis, Leukocytosis, Arthritis, Hypovolemic shock, Microangiopathic hemolytic anem...	ORPHA:810
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Marburg Hemorrhagic Fever	Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos...	ORPHA:99826
Bloom Syndrome	Leukemia, Lymphoma, Elevated hemoglobin A1c, Squamous cell carcinoma	OMIM:210900
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypertension, Hypotension	OMIM:611489
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Sepsis, Lymphadenopathy, Abnorm...	ORPHA:39041
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Alg12-Cdg	Redundant skin, Partial absence of specific antibody response to Haemophilus influenzae type b (H...	ORPHA:79324
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
Prolactinoma	Osteopenia, Osteoporosis, Pallor, Hypotension	ORPHA:2965
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Diamond-Blackfan Anemia 21	Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, B...	ORPHA:2785
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Fumarase Deficiency	Polycythemia, Pallor	OMIM:606812
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Leukopenia, Pulmonary arterial hypertension, Th...	ORPHA:974
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Dry skin, Anemia, Camptodactyly	ORPHA:261323
Irida Syndrome	Pallor	ORPHA:209981
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Death in infancy	OMIM:230900
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Thrombocytopenia, Increased mean corpuscular volume	ORPHA:261250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Craniosynostosis, Po...	OMIM:620005
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Degcags Syndrome	Osteopenia, Tachycardia, Pancytopenia, Craniosynostosis, Congenital hypoplastic anemia, Hepatospl...	OMIM:619488
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness	OMIM:230600
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Atelis Syndrome 2	Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Anemia	OMIM:620185
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Vasculitis, Hematoch...	OMIM:615846
Fanconi Anemia, Complementation Group B	Death in infancy, Aplastic anemia, Thrombocytopenia	OMIM:300514
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat...	ORPHA:90038
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple myeloma, Chronic lymphatic leu...	ORPHA:91139
Down Syndrome	Acute megakaryocytic leukemia	ORPHA:870
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Tangier Disease	Thrombocytopenia, Dry skin, Anemia, Hepatosplenomegaly	ORPHA:31150
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o...	ORPHA:902
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Medias...	ORPHA:379
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Anemia	ORPHA:847
Dubowitz Syndrome	Abnormality of neutrophils, Craniosynostosis, Acute lymphoblastic leukemia, Anemia, Joint hyperfl...	ORPHA:235
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Yellow Nail Syndrome	Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma	ORPHA:662
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ...	OMIM:277900
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Hep...	OMIM:614162
Lysinuric Protein Intolerance	Abnormal bleeding, Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Decreased circ...	ORPHA:470
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased heart rate variability, Thrombocytopenia, Death in ...	OMIM:619005
Primary Sjögren Syndrome	Normocytic anemia, Raynaud phenomenon, Vasculitis, Skin ulcer, Decreased circulating antibody lev...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro...	OMIM:305000
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Anemia	OMIM:616457
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Yellow Fever	Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v...	ORPHA:99829
Noonan Syndrome 2	Leukemia	OMIM:605275
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Pulmonic stenosis, Camptodactyly	OMIM:616737
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Hypertension, Pa...	ORPHA:91347
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal...	ORPHA:1572
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr...	ORPHA:1052
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Recurrent infections, Hepatosplenomegaly...	OMIM:260920
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot...	ORPHA:94093
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Heart murmur, Intracranial hemorrhage, Anemia, Thrombocy...	ORPHA:163979
Caroli Syndrome	Abnormal bleeding, Liver abscess, Portal hypertension, Hematemesis, Hypersplenism, Leukocytosis, ...	ORPHA:480520
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteopor...	ORPHA:77293
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Hypertension, Leukopenia, Arthritis, Thrombocytopenia	ORPHA:536
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Neutropeni...	ORPHA:79282
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Dubowitz Syndrome	Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Aplastic anemia	OMIM:223370
Melnick-Needles Syndrome	Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges...	ORPHA:2484
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea...	ORPHA:79330
Kikuchi-Fujimoto Disease	Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Erythema, Leukopenia, Lymphocytosis, Vas...	ORPHA:50918
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Thrombocytopenia	ORPHA:3320
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia, Portal hypertension	OMIM:251880
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Prolonged prothrombin time, Blee...	OMIM:619525
Osteogenesis Imperfecta	Aortic regurgitation, Osteopenia, Recurrent fractures, Cerebral hemorrhage, Joint hypermobility, ...	ORPHA:666
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Microcytic anemia, Increased circulating IgA level, Splenomegaly, Conges...	OMIM:256040
Deeah Syndrome	Decreased hemoglobin concentration, Death in infancy, Decreased heart rate variability, Death in ...	OMIM:619004
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Cryptococcosis	Lymphoid leukemia, Neoplasm	ORPHA:1546
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosp...	OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Alport Syndrome 1, X-Linked	Hypertension, Thrombocytopenia	OMIM:301050
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Prolonged QT interval, Dry skin, ST segment depression, Hypotension, Abnormal ...	ORPHA:466650
Goodpasture Syndrome	Pallor, Anemia, Pulmonary hemorrhage	OMIM:233450
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out...	OMIM:187300
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia...	OMIM:251260
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Nephroblastoma, Ependymoma, Teratoma, Hepatoblastoma, Myeloid leukemia, ...	ORPHA:798
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Thrombocytopenia, Splenomegaly, Ca...	ORPHA:699
Tick-Borne Encephalitis	Stiff neck, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM ...	ORPHA:297
Rubinstein-Taybi Syndrome 1	Accessory spleen, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic hemangioma, Capillar...	OMIM:180849
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos...	ORPHA:3103
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Anemia, Sarcoma	ORPHA:44890
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Juvenile myelomonocytic leukemia, Hepatosplenomegaly	OMIM:613563
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Recurrent fractures, Osteomalacia, Joint stiffness, Thrombocytopenia, Skin ulce...	ORPHA:534
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Flexion contracture, Limb joint contracture, Thrombocytopenia	OMIM:301072
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa...	OMIM:600376
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Portal hypertension, Rickets, Reduced bone mineral densit...	OMIM:613658
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Heart...	ORPHA:797
Chime Syndrome	Acute leukemia	ORPHA:3474
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Ogden Syndrome	Redundant neck skin, Polycythemia, Redundant skin, Facial wrinkling, Ventricular tachycardia, Pre...	OMIM:300855
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Reduced bone mineral density, Anemia, Leukopenia, Hyp...	ORPHA:84
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Death in ch...	OMIM:613848
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Redundant skin, Cranial hyperostosis, Limitation of joint mobilit...	ORPHA:2658
Insulin-Resistance Syndrome Type B	Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circulating IgG level, Thr...	ORPHA:2298
Hardikar Syndrome	Portal hypertension, Hematemesis, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, ...	OMIM:301068
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Myeloproliferative disorder	ORPHA:70591
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormality of thrombocytes, Impaired T cell function, Thrombocytope...	ORPHA:567
Oculodentodigital Dysplasia	Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Arrhythmia, Abnormal cortical bone m...	ORPHA:2710
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia	OMIM:280000
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Aicardi-Goutières Syndrome	Enchondroma, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia	ORPHA:51
Poland Syndrome	Retinal hamartoma, Neoplasm of the breast, Acute leukemia	ORPHA:2911
Weill-Marchesani Syndrome 2	Striae distensae, Joint stiffness, Congestive heart failure, Elbow flexion contracture, Lack of s...	OMIM:608328
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly	ORPHA:487796
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Multiple Endocrine Neoplasia Type 2	Joint laxity, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromoc...	ORPHA:653
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Familial Osteodysplasia, Anderson Type	Hypertension, Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to...	ORPHA:2769
Jacobsen Syndrome	Flexion contracture, Thrombocytopenia	OMIM:147791
Cornelia De Lange Syndrome 1	Limited elbow extension, Elbow flexion contracture, Thrombocytopenia	OMIM:122470
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Jacobsen Syndrome	Death in infancy, Aortic valve stenosis, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Monosomy 22	Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo...	ORPHA:96123
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Esophageal Atresia	Laryngotracheomalacia, Pallor	ORPHA:1199
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Weill-Marchesani Syndrome 1	Joint stiffness, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Thin bony cortex	OMIM:277600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis,...	OMIM:163950
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Anemia	OMIM:175050
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Hepatosplenomegaly...	ORPHA:731
Liver Disease, Severe Congenital	Joint laxity, Splenomegaly, Abnormal left ventricular function, Leukopenia, Anemia, Lymphocytosis...	OMIM:619991
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp...	ORPHA:2968
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci...	ORPHA:79078
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne...	ORPHA:821
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Aspartylglucosaminuria	Splenomegaly, Abnormal cortical bone morphology, Arthritis, Joint stiffness	ORPHA:93
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Caver...	ORPHA:99646
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Redundant skin, Osteoar...	ORPHA:286
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805

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 Nfe2

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 Nfe2.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload.	Cell reports (April 2023)	Nfe2l1^{tm1c(EUCOMM)Hmgu} Nfe2l2^{tm1a(KOMP)Wtsi}	37060561
Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity.	Nature medicine (February 2018)	Nfe2l1^{tm1a(EUCOMM)Hmgu}	PMC5839993
NRF1 Is an ER Membrane Sensor that Is Central to Cholesterol Homeostasis.	Cell (November 2017)	Nfe2l1^{tm1c(EUCOMM)Hmgu} Nfe2l2^{tm1a(KOMP)Wtsi} Nfe2l1^{tm1a(EUCOMM)Hmgu}	29149604

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nfe2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfe2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nfe2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nfe2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfe2^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Nfe2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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