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
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 content Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 3.61×10-05
increased mean platelet volume Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 4.53×10-16
decreased bone mineral density Nbeal2tm1a(EUCOMM)Wtsi HOM Early adult 2.59×10-06

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 Skull Lateral Orientation

15 Images


XRay Images Forepaw

14 Images


XRay Images Skull Dorso Ventral Orientation

15 Images


XRay Images Whole Body Lateral Orientation

14 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
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Essential Thrombocythemia
Myelodysplasia, Abnormality of bone marrow cell morphology, Myelofibrosis, Increased megakaryocyt... ORPHA:3318
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... ORPHA:86843
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Thrombocytopenia 6
Thrombocytopenia, Bone marrow hypercellularity, Myelofibrosis, Osteoporosis OMIM:616937
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation,... OMIM:139090
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Platelet Disorder, Undefined
Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules, Myelofibrosis OMIM:187900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Recurrent otitis media, Neutropenia, Thrombo... OMIM:617475
Abnormal megakaryocyte morphology, Pneumonia, Neutropenia, Thrombocytopenia, Giant platelets, Abn... ORPHA:238459
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia, Myelofibrosis OMIM:616604
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:617443
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia ORPHA:3319
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Giant platelets, Neutrophil inclusio... ORPHA:182050
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Acquired Idiopathic Sideroblastic Anemia
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Myel... ORPHA:75564
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
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
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... OMIM:614075
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Anemia, Splenomegaly OMIM:602079
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Thromboc... ORPHA:3226
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Castleman Disease
Abdominal mass, Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytope... ORPHA:160
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Cervical lymphadeno... ORPHA:3260
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n... OMIM:169400
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Polycythemia Vera
Myelodysplasia, Myelofibrosis, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia ORPHA:729
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Hemophagocytosis, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis medi... ORPHA:444463
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... OMIM:611490
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormality of multiple cell lineages in the bone marrow, Abnormal megakaryoc... ORPHA:67044
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Abnormality of bone marrow cell morphology, Hepatomegaly, Abnormal B ce... ORPHA:100024
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Mantle Cell Lymphoma
Splenomegaly, Abnormality of bone marrow cell morphology, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Abnorm... ORPHA:172
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Schnitzler Syndrome
Skin rash, Leukocytosis, Lymphoma, Hepatomegaly, Increased bone mineral density, Anemia, Splenome... ORPHA:37748
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Reduced bone minera... ORPHA:848
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Abnormality of bone marrow cell morphology, Autoimmune thrombocytopenia, A... ORPHA:100026
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased megakaryocyte count, Increased hemo... OMIM:263300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Bronchiectasis, Autoimmune thrombocytopenia, Recurrent otitis media... OMIM:300853
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent fractures, O... OMIM:259710
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Felty Syndrome
Osteolysis, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Synovitis, Neutro... ORPHA:47612
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Primary Myelofibrosis
Hemangioma, Thrombocytosis, Abnormality of bone marrow cell morphology, Bone marrow hypercellular... ORPHA:824
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, Ab... OMIM:612840
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:613011
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... OMIM:608233
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Splen... OMIM:617514
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Bone marrow hypercellularity, Abnormality o... ORPHA:86841
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Leukocytosis, Maculopapular e... ORPHA:98850
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow hypocellularity OMIM:618116
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Joint laxity, Osteoporosis, Hepatomegaly OMIM:614727
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Osteoporosis, Abnormality of bone marrow cel... ORPHA:98848
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly,... ORPHA:2785
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Non-Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Hepatic hemangioma, Thrombocyto... ORPHA:141179
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Wt Limb-Blood Syndrome
Radioulnar synostosis, Joint contracture of the 5th finger, Thrombocytopenia, Hypoplastic anemia,... OMIM:194350
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Thrombocythemia 2
Thrombocytosis OMIM:601977
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter, Nephritis ORPHA:3327
Amed Syndrome, Digenic
Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia,... OMIM:619151
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Nephrotic Syndrome, Type 7
Thrombocytopenia, Glomerulonephritis, Hemolytic anemia OMIM:615008
Rapidly Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Hepatic hemangioma, Thrombocyto... ORPHA:141184
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Colitis, Pancytopenia, Hepat... OMIM:300635
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Knee flexion contracture, ... OMIM:604416
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... OMIM:603554
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hyperparathyroidism OMIM:618107
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Pneumonia... ORPHA:3392
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, B-cell lymphoma, Splenomegaly, B lymphocytopenia, Recurr... OMIM:619164
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Increased susceptibility to fractures, Abnormal mast cell morpho... ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpuscular volume,... OMIM:615234
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... ORPHA:507
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Classic Mycosis Fungoides
Skin rash, Abnormality of bone marrow cell morphology, Abnormal lymphocyte morphology, Lymphoma, ... ORPHA:2584
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Abnormality of bone marrow cell morphology, B-cell lymphoma, Hepatomegaly, Lymphoma, Breast carci... ORPHA:86893
Neurofibromatosis-Noonan Syndrome
Abnormality of the lymphatic system, Prolonged bleeding time ORPHA:638
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... OMIM:612714
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Skin rash, Lymphadenopathy OMIM:618048
Vexas Syndrome
Chondritis of pinna, Myelodysplasia, Arteritis, Neutrophilic infiltration of the skin, Nasal chon... OMIM:301054
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Atopic dermatitis, Hepatomegaly, Splenomegaly OMIM:615846
Thrombocytopenia, Anemia ORPHA:673
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage, Hep... ORPHA:90308
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Colitis, ... ORPHA:84064
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Uveitis, Lymphoma, Pancytopenia, Hepatomegaly, Ho... OMIM:615122
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Limitation ... ORPHA:108
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Hepatomegaly, Abnormali... ORPHA:417
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter, Nephritis OMIM:274240
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, S... ORPHA:77259
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... OMIM:615559
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... ORPHA:846
Osteoporosis, Intrahepatic cholestasis, Increased mean platelet volume, Bilobate gallbladder, Ani... OMIM:607330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Hypothyroidism, Neut... OMIM:304790
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Lig4 Syndrome
Myelodysplasia, Hypothyroidism, Thrombocytopenia, Pancytopenia, Psoriasiform dermatitis OMIM:606593
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Visceral angiomatosis ORPHA:2123
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Thrombocythemia 3
Thrombocytosis OMIM:614521
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture, Chilblains OMIM:612952
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splenomegal... OMIM:616050
Noonan Syndrome 12
Atopic dermatitis, Lymphopenia, Glabellar hemangioma, Thrombocytopenia, Decreased response to gro... OMIM:618624
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
X-Linked Agammaglobulinemia
Skin rash, Chronic otitis media, Neutropenia, Sinusitis, Conjunctivitis, Hepatitis, Neoplasm, Rec... ORPHA:47
Refractory Anemia With Excess Blasts
Abnormality of bone marrow cell morphology, Dysplastic granulopoesis, Single lineage myelodysplas... ORPHA:86839
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Increased susceptibility to fractures, Elevated hepatic ir... ORPHA:231222
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Periodontitis, Lymphopenia, Cycli... ORPHA:2686
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Immunodeficiency 55
Neutropenia OMIM:617827
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Tufted Angioma
Facial hemangioma, Megakaryocytopenia, Thrombocytopenia, Anemia, Neoplasm of the skin ORPHA:1063
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Flexion contracture, Pancytopenia, Thrombocytopenia, Hepatome... ORPHA:85212
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Majeed Syndrome
Pustule, Hypochromic microcytic anemia, Abnormality of bone marrow cell morphology, Leukocytosis,... ORPHA:77297
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Camptodactyly, Increased mean platelet volume OMIM:616737
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis ORPHA:79312
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:858
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Congenital Rubella Syndrome
Skin rash, Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Maculopapular exanthema, Neutropenia, Pancytopenia, Thrombocytopenia... ORPHA:398124
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Lymphopenia, Panniculitis, Flexion contracture, Thrombocytopenia, Conjunctivitis, Hepa... OMIM:617591
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... ORPHA:324636
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis OMIM:615947
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Good Syndrome
Bronchiectasis, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lymphadenopathy, ... ORPHA:169105
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Thrombocytopen... ORPHA:210136
Classic Hodgkin Lymphoma
Skin rash, Osteolysis, Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Bone marrow hypocellularit... ORPHA:391
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegaly, Ascites, Leukope... ORPHA:381
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia ORPHA:101028
Mixed Connective Tissue Disease
Hemolytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Le... ORPHA:809
Gaucher Disease, Type I
Multiple myeloma, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pathologic fracture... OMIM:230800
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Macrocytic anemia ORPHA:27
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613989
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Myelodysplasia, Cirrhosis, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia,... OMIM:127550
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79301
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Kaposi's sarcoma, Lymphadenopathy OMIM:612783
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Chronic otitis media, Pneumonia, Neoplasm, Thrombocytopenia, Hepatomegaly, Sple... ORPHA:169090
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Proteus Syndrome
Hemangioma, Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Lymphangio... OMIM:176920
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Increased mean platelet volume, Cholestasis, Hepatic fibrosis, Jaundic... OMIM:222470
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascite... OMIM:259720
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurrent otitis media, Re... OMIM:607594
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... ORPHA:1451
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegal... ORPHA:905
Thrombocytopenia, Abnormality of the hepatic vasculature, Type I diabetes mellitus ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Oropharyngeal squamous cell carcinoma, Eczema, Auto... ORPHA:391487
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Eczema, Hemangioma, Joint laxity, Myelofibrosis OMIM:607721
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cel... ORPHA:331206
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Arth... OMIM:607115
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hyperplasia, Lymphoma, Ne... OMIM:240500
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Hemophagocytosis, Abnormality of multiple cell lineages in the bone marrow, Erythroder... ORPHA:540
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Omenn Syndrome
Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte morphology, Hypothyroidism, Pneumoni... ORPHA:39041
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopeni... OMIM:605432
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Propionic Acidemia
Osteoporosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Ec... OMIM:606054
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Marburg Hemorrhagic Fever
Skin rash, Thrombocytopenia, Jaundice, Leukopenia, Pancreatitis ORPHA:99826
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Ebola Hemorrhagic Fever
Thrombocytopenia, Skin rash, Leukopenia ORPHA:319218
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia OMIM:608104
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Craniosynostosis, Increased circulating T4 level, Graves disease, ... ORPHA:525731
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Crimean-Congo Hemorrhagic Fever
Skin rash, Hepatic steatosis, Uveitis, Thrombocytopenia, Jaundice, Leukopenia ORPHA:99827
Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Abnormal ... ORPHA:167
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymph... ORPHA:83313
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Skin rash, Pustule, Osteolysis, Periostitis, Stomatitis, Hepatomegaly, Splenomegaly, Neu... OMIM:612852
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis OMIM:228000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative ... OMIM:618935
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Sinusitis, An... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytopenia, Abnormality... ORPHA:487796
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Prolonged prothr... ORPHA:49566
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Immunodeficiency 32B
Splenomegaly, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Thrombocytopenia, Left ventricular hypertrophy, Anemia, Osteopenia OMIM:611209
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis,... ORPHA:292
Prolidase Deficiency
Thrombocytopenia, Crusting erythematous dermatitis, Hepatomegaly, Splenomegaly, Prolonged neonata... OMIM:170100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Retinal Venous Beading
Neutropenia OMIM:180080
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Stomatitis, Thrombocytopenia, Hepatomegaly, Granuloc... OMIM:233600
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Malar rash, Anemia, Serositis ORPHA:231111
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Hepatomegaly, Petechiae, Cerebral hemor... ORPHA:99828
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Leukocytosis, Stomatitis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:520
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased basophil count, Ulcerative coli... OMIM:618394
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Kaposiform Lymphangiomatosis
Osteolysis, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spl... ORPHA:464329
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent bacterial skin infections, Periodontitis, Im... OMIM:214500
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... OMIM:222800
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sple... ORPHA:829
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia OMIM:249270
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies OMIM:185070
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly OMIM:608540
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephritis, Leukopenia, Pancreatitis OMIM:251000
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Hypothyroidism, Chilblains, Thrombocytopenia, Hepatomegaly, Prolonged ne... OMIM:225750
Osteoporosis, Seborrheic dermatitis, Osteolysis, Abnormality of bone marrow cell morphology, Elev... ORPHA:2796
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Abnormality of multiple cell lineage... ORPHA:514
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Sialidosis Type 2
Osteoporosis, Flexion contracture, Hepatomegaly, Splenomegaly, Ascites, Abnormality of bone marro... ORPHA:87876
Shwachman-Diamond Syndrome 1
Myelodysplasia, Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Panc... OMIM:260400
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholelithiasis, Normocytic anemia, Jaundice, No... OMIM:235700
Relapsing Fever
Abnormal bleeding, Leukocytosis, Epistaxis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neutr... ORPHA:91547
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613990
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... OMIM:242900
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Mirage Syndrome
Radial club hand, Myelodysplasia, Hypergonadotropic hypogonadism, Lymphopenia, Thrombocytopenia, ... OMIM:617053
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Eczema, Perioral eczema, Keratoconjunctivitis ORPHA:79242
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Uveitis, Hepatomegaly, Conjunctivitis, Delayed puberty, Episc... ORPHA:575
Splenoportal Vascular Anomalies