Gene Summary

neurobeachin-like 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 4.53×10-16
thrombocytopenia Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-20
increased leukocyte cell number Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 2.63×10-10
decreased bone mineral density Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 2.59×10-06
decreased bone mineral content Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 3.61×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Skull Dorso Ventral Orientation

15 Images


XRay Images Skull Lateral Orientation

15 Images


XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Nbeal2 mutations

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

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

The table below shows human diseases associated to Nbeal2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nbeal2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Essential Thrombocythemia
Abnormality of bone marrow cell morphology, Myelofibrosis, Splenomegaly, Increased megakaryocyte ... ORPHA:3318
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m... OMIM:231095
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Acute Panmyelosis With Myelofibrosis
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac... ORPHA:86843
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Chronic oral candidiasis, Myelofibrosis, Hemophagocytosis, Splenomegaly, ... OMIM:301078
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Thrombocytopenia 6
Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... OMIM:139090
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Enlarged tonsils, Leukocytosis, Delayed femoral head ossi... ORPHA:168621
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Abnormal megakaryocyte morphology, Neutropenia, Pneumonia, Giant platelets, Thrombocytopenia, Abn... ORPHA:238459
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Myeloid leukemia OMIM:616604
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... OMIM:133180
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:153640
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volu... ORPHA:182050
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hepatomegaly, Hyposegmentatio... ORPHA:75564
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:617443
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Anemia, Neutropenia, Splenomegaly OMIM:602079
Castleman Disease
Decreased mean corpuscular volume, Myelofibrosis, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 69
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... ORPHA:3226
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli... ORPHA:3260
Pelger-Huet Anomaly
Recurrent otitis media, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils... OMIM:169400
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Polycythemia Vera
Hepatomegaly, Myelofibrosis, Splenomegaly, Myelodysplasia, Portal hypertension, Acute leukemia ORPHA:729
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... OMIM:617718
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto... ORPHA:67044
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... OMIM:210250
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocy... OMIM:603552
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 16
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... OMIM:611490
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Gamma-Heavy Chain Disease
Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, Splenomegaly, Rheumatoid art... ORPHA:100026
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Chilblains OMIM:610329
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Mu-Heavy Chain Disease
Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Osteoporosis, Abnormal B ... ORPHA:100024
Non-Involuting Congenital Hemangioma
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... ORPHA:141179
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Abnormality of bone marrow cell morphology, Splenomegaly ORPHA:52416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality of t... ORPHA:172
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Ar... ORPHA:37748
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... OMIM:300853
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... ORPHA:848
Primary Myelofibrosis
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Hepatomegaly, Abnormality of bon... ORPHA:824
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Chronic rhini... OMIM:259710
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Felty Syndrome
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... ORPHA:47612
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Rapidly Involuting Congenital Hemangioma
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... ORPHA:141184
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... OMIM:613101
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... OMIM:613011
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom... ORPHA:86841
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosple... OMIM:612840
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Ascites ORPHA:295
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi... OMIM:308240
Specific Granule Deficiency 2
Recurrent otitis media, Bone marrow maturation arrest, Osteopenia, Myelodysplasia, Recurrent pneu... OMIM:617475
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopeni... OMIM:608233
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Juvenile Arthritis
Thrombocytosis, Skin rash, Leukocytosis OMIM:618795
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:618116
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Wt Limb-Blood Syndrome
Hypoplastic anemia, Radioulnar synostosis, Joint contracture of the 5th finger, Pancytopenia, Thr... OMIM:194350
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... OMIM:152700
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia, Joint laxity, Osteoporosis OMIM:614727
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia, Glomerulonephritis OMIM:615008
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Myelitis, Malar rash, Throm... OMIM:301080
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Abnormality of bone marrow ... ORPHA:98848
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... OMIM:619164
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Thrombocytopenia OMIM:616744
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Thrombocytopenia 1
Joint hemorrhage, Eczema, Congenital thrombocytopenia, Decreased mean platelet volume, Intermitte... OMIM:313900
Thrombocythemia 2
Thrombocytosis OMIM:601977
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombocytopen... OMIM:603585
Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin rash, Cervical lymphadenopath... ORPHA:3392
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Bone marrow hypercellularity, Abno... ORPHA:98849
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, A... ORPHA:507
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Calv... OMIM:612714
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Amed Syndrome, Digenic
Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid ... OMIM:619151
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Anemia, Thrombocytopenia ORPHA:673
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia OMIM:141000
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... OMIM:619802
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Macrocyti... OMIM:301054
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Tufted Angioma
Megakaryocytopenia, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma... ORPHA:1063
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis ORPHA:3327
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Abnormality of bone marrow cell morphology, Hepatomegaly, Breast carcinoma, Sple... ORPHA:86893
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr... ORPHA:158029
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Recurrent pneumonia, Bronchie... OMIM:616576
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Anemia, Thrombocytopenia, Ascites, Visceral angiomatosis ORPHA:2123
Neurofibromatosis-Noonan Syndrome
Abnormality of the lymphatic system, Prolonged bleeding time ORPHA:638
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, S... ORPHA:2584
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Chilblains, Flexion contracture OMIM:612952
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice, Limitation ... ORPHA:108
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Ascites, Prolo... ORPHA:90308
Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ... OMIM:607330
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Dysplastic granulopoesis, Abnormality of bone marrow cell morpho... ORPHA:86839
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Oste... OMIM:259700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Myeloid maturation arrest, Splenomegaly OMIM:619813
Stuve-Wiedemann Syndrome 2
Eczema, Thrombocytopenia, Camptodactyly OMIM:619751
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural k... OMIM:616050
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Anemia OMIM:618107
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia OMIM:230900
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Syndromic Diarrhea
Colitis, Lymphopenia, Gastritis, Hepatomegaly, Splenomegaly, Hepatoblastoma, Cirrhosis, Hypoplasi... ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... ORPHA:169154
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthriti... ORPHA:77259
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Abnormality of the lymphatic... ORPHA:47
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Ce... ORPHA:2686
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... OMIM:615559
Immunodeficiency 64
B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:618534
Fetal Gaucher Disease
Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multip... ORPHA:85212
Noonan Syndrome 12
Atopic dermatitis, Thrombocytopenia, Lymphopenia, Glabellar hemangioma OMIM:618624
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteus Syndrome
Lymphangioma, Lipoma, Calvarial hyperostosis, Splenomegaly, Hemangioma, Multiple lipomas, Thin bo... OMIM:176920
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells OMIM:269840
Isovaleric Acidemia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Wiskott-Aldrich Syndrome
Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage... ORPHA:906
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt... ORPHA:69077
Lig4 Syndrome
Myelodysplasia, Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia OMIM:606593
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,... OMIM:611762
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Jaundice, Cardiomegaly, Lymphadenopathy ORPHA:858
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... ORPHA:210136
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Skin rash, Myositis, Lym... OMIM:617591
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Increased bone mineral density, Leukocytosis... ORPHA:77297
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Camptodactyly OMIM:616737
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Hem... ORPHA:398124
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, Monocy... OMIM:619644
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Transaldolase Deficiency
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Sengers Syndrome
Thrombocytopenia OMIM:212350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Macrophage Activation Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthritis, Hepatitis, Increased... ORPHA:158061
Unclassified Myelodysplastic Syndrome
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... ORPHA:98827
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:301082
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Wiskott-Aldrich Syndrome
Melena, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hypersensitivit... OMIM:301000
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia OMIM:619693
Gaucher Disease, Type I
Multiple myeloma, Hepatomegaly, Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thromboc... OMIM:230800
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Cirrhosis, Interstitial pneumonitis, Aplastic anemia, Osteoporosis, Myelodysplasia, ... OMIM:127550
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Bone marrow hypoce... ORPHA:381
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Osteolysis, Bone marrow hypocellularit... ORPHA:391
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... OMIM:618986
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p... OMIM:222470
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Hemolytic anemia, Pneumonia, Thromboc... ORPHA:169090
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Kaposi's sarcoma, Lymphadenopathy OMIM:612783
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Letterer-Siwe Disease
Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Anemia, Thrombocytopenia, Jau... OMIM:246400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... OMIM:300367
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Neonatal cholesta... ORPHA:79301
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Purpura, G... ORPHA:809
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Thrombocytopenia, Jaundice ORPHA:290
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,... OMIM:228000
Cinca Syndrome
Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Anemia, Lymphadeno... OMIM:607115
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Arthritis, Pathologic ... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hemangioma, Eczema, Joint laxity, Myelofibrosis OMIM:607721
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Skin rash, Eosinophilia, Hepatosplenomegaly, Ly... ORPHA:331206
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Atrophic gastritis, Autoimmune ... OMIM:616100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar s... OMIM:605432
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Lymphadenopathy, B lymphocytopenia, Increased CD4:CD8 ratio, Thrombocytopenia, Neutrop... OMIM:618048
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Macu... ORPHA:540
Propionic Acidemia
Pancreatitis, Hepatomegaly, Eczema, Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytop... OMIM:606054
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma ORPHA:66661
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... OMIM:240500
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp... ORPHA:1451
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Mediastinal lymphad... ORPHA:169105
Wolfram Syndrome 2
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... OMIM:604928
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombo... ORPHA:572
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... OMIM:619652
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia OMIM:613987
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto... ORPHA:79329
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonged prothr... ORPHA:49566
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly OMIM:226990
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Hepatomegaly, Splenomegaly ORPHA:417
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Thrombocytopenia, Lymph... ORPHA:83313
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Hepatomegaly, Neutrophilia, Pustule, Splenomegaly, Skin rash, Osteope... OMIM:612852
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flexion contracture, Abnormality of the lymphatic system, Camptodactyly, Increased mean platelet ... ORPHA:487796
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:98293
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... ORPHA:79124
Blue Rubber Bleb Nevus
Hemangioma, Pathologic fracture, Iron deficiency anemia, Cerebellar medulloblastoma, Thrombocytop... OMIM:112200
Drug-Induced Lupus Erythematosus
Pericarditis, Serositis, Malar rash, Anemia, Thrombocytopenia ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Left ventricular hypertrophy, Camptodactyly, Anemia, Thrombocytopenia OMIM:611209
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormalit... ORPHA:1414
Abnormality of the hepatic vasculature, Thrombocytopenia ORPHA:275555
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:613990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th... ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone marr... OMIM:613989
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Prolon... OMIM:170100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Lymphoma,... ORPHA:39041
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Leukocytosis, Leukopenia, Pancytopenia, Stomatitis, Neutropenia, An... ORPHA:520
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hashimoto thyroiditis, Leukocytosis ORPHA:83601
Glycosylphosphatidylinositol Biosynthesis Defect 1
Abnormality of bone marrow cell morphology, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Eczema, Ly... OMIM:618935
Congenital Enterovirus Infection
Leukocytosis, Skin rash, Leukopenia, Myocarditis, Abnormal macrophage morphology, Cholestasis, He... ORPHA:292
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Kaposiform Lymphangiomatosis
Papilloma, Lymphangioma, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, Abnormal ... ORPHA:464329
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Relapsing Fever
Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Epistaxis, Anemia, Thrombocytopenia, J... ORPHA:91547
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis OMIM:618398
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Ascites, Cardiomegaly OMIM:269920
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Retinal Venous Beading
Neutropenia OMIM:180080
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Thrombocytopeni... ORPHA:448237
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent otitis media, Autoimmun... OMIM:618495
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... OMIM:214500
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A... ORPHA:158048
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Hyper... ORPHA:3261
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Dengue Fever
Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Gingival bleed... ORPHA:99828
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopo... OMIM:259720
Transaldolase Deficiency
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... OMIM:606003
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... ORPHA:829
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Eczema, B lymphocytopenia, Myelodysplasia, Megakaryocyte dysplasia, Neut... ORPHA:508542
Stormorken Syndrome
Abnormal bleeding, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies OMIM:185070
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Hepatomegaly, Persistence of hemoglobin F, Pancytopenia, Myelo... OMIM:260400
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Pancytopeni... OMIM:618394
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Thrombocytopenia ORPHA:370924
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Sialidosis Type 2
Hepatomegaly, Abnormality of bone marrow cell morphology, Flexion contracture, Splenomegaly, Oste... ORPHA:87876
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic le... ORPHA:514
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Eczema, Aplastic anemia, Macrocytic ... ORPHA:811
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Leukopenia, Infectio... OMIM:603553
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Neoplasm, Bone marrow hypocellularity, Anemia, Thrombocytopenia ORPHA:3322
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Thrombocytopenia OMIM:251000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome