Gene Summary

Name:
Rab geranylgeranyl transferase, a subunit
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased neutrophil cell number Rabggtatm1.1(KOMP)Vlcg HET Early adult 6.86×10-05
increased hemoglobin content Rabggtatm1.1(KOMP)Vlcg HET Early adult 2.96×10-06

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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.

Phenotype associated images not available

Human diseases caused by Rabggta 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Giant platelets, Prolonged bleeding time OMIM:608404
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... ORPHA:238459
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Bruising susceptibility, Hypopigmentation of the ski... OMIM:614072
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... ORPHA:231393
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Prolonged bleeding time, Reticulocytosis, Hirsutism, Epistaxis, Thrombocytopeni... OMIM:314050
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Albinism, Prolonged bleeding time, Ocular albinism, Epistaxis, Thrombocytopeni... OMIM:614074
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of the menstrual cycle, Epistaxis, Thrombocytopenia, Splenomegaly,... ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, ... OMIM:614075
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair, Splenomegaly OMIM:269600
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Melanocytic nevus, Abnormal hemoglobin, Anemia ORPHA:3319
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Abnormal bleeding, Increased circulating IgA level OMIM:314000
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Alopecia OMIM:617443
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Reticulated skin pigmentation, Nail dysplasia, Pancytopenia, Testicular atrophy... OMIM:613987
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Brui... ORPHA:3226
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Decreased serum thromboxane B2, Bruising susceptibility, Ecch... OMIM:614158
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Hermansky-Pudlak Syndrome 2
Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Neutropenia, Ocular... OMIM:608233
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Uncombabl... ORPHA:84064
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Trichorrhexis nodosa, Sparse hair, Curly hair, H... OMIM:222470
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia, Alopecia OMIM:616576
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hyperpigmentation of the ... ORPHA:158029
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Int... ORPHA:98879
Leishmaniasis
Abnormal bleeding, Increased circulating antibody level, Abnormal macrophage morphology, Pancytop... ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Immunodeficiency 55
Neutropenia OMIM:617827
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Wt Limb-Blood Syndrome
Irregular hyperpigmentation, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia OMIM:616737
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Prolonged bleeding time, Internal hemorrhage, Gastrointestina... ORPHA:90308
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Epistaxis, Impaired collagen-induced platelet aggre... OMIM:619172
Tufted Angioma
Purpura, Thrombocytopenia, Petechiae, Hypertrichosis, Anemia ORPHA:1063
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Ac... ORPHA:86839
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Albinism, Bruising susceptibility, Ocular albinism, Epistaxis, Menorrhagia, Ab... OMIM:614073
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Metrorrhagia, Leukop... ORPHA:319218
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Bone... OMIM:619151
Isovaleric Acidemia
Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity OMIM:243500
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Whim Syndrome 1
Neutropenia OMIM:193670
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Hermansky-Pudlak Syndrome 1
Freckles in sun-exposed areas, Albinism, Freckling, Prolonged bleeding time, Abnormal hair morpho... OMIM:203300
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Hypog... ORPHA:848
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Elevated circulating creatine k... OMIM:185070
Transaldolase Deficiency
Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Incre... ORPHA:101028
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Elevated circula... ORPHA:49566
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Petechiae, Cerebral he... ORPHA:99828
Sengers Syndrome
Thrombocytopenia OMIM:212350
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Fluctuating sp... OMIM:619220
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Pancytopenia, Thrombocytopenia, Nail dysplasia, Reticulated skin pigme... OMIM:613989
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Leukocytosis, Elevated circulating creatinine conce... ORPHA:91547
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Leukocytosis, Oral cavity bleeding, Neutropenia, Epistaxi... ORPHA:520
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Lathosterolosis
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased mean platelet volum... OMIM:607330
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Hypercalcemia, Anemia ORPHA:69077
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Marburg Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Menometrorrhagia, Thr... ORPHA:99826
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Spont... OMIM:214500
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Petechiae, Elevated circulating C-reactive prote... ORPHA:231111
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Thrombocytopenia, Sparse scalp h... ORPHA:3322
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesi... ORPHA:824
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bleeding, Fatigable weakness of skeletal muscles, Decreased propor... ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Reticular hyperpigmentation, Premature graying of hair, Sparse hair, Lymphopenia, Ridg... OMIM:127550
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Increased circulating ferritin... ORPHA:210136
Retinal Venous Beading
Neutropenia OMIM:180080
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Petechiae, Leukopeni... ORPHA:99827
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Purpura, Decreased circulating an... ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia ORPHA:858
Thrombocytopenia 6
Thrombocytopenia, Abnormal bleeding, Spontaneous, recurrent epistaxis OMIM:616937
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Pancytopenia, Thrombocytopenia, Nail dysplasia, Reticulated skin pigme... OMIM:613990
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Hyperammonemia, Macrocytic anemia ORPHA:27
Mixed Connective Tissue Disease
Hemolytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Splenomegaly, Al... ORPHA:809
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia OMIM:612783
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Macs Syndrome
Prolonged bleeding time, Sparse hair, Hypergonadotropic hypogonadism, Sparse and thin eyebrow, Al... OMIM:613075
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Lig4 Syndrome
Thrombocytopenia, Pancytopenia, Amenorrhea OMIM:606593
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Cerebellar hemorrhage, Thrombocytopenia, Methylmalonic acidemia, Leukopenia, Hyp... OMIM:251000
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Facial hirsutism, Petechiae, Anemia, Sple... OMIM:170100
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimuation test OMIM:618624
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Hypopigmented skin patches, Thrombocytopenia, Agammaglobulinemia, Anem... ORPHA:47
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia ORPHA:487796
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Petechiae, Increased circulating IgG level, Le... ORPHA:83313
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Alopecia ORPHA:79242
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Coarse hair, Thrombocytopenia, Abnormal T cell morphology, Anemia, Fine... OMIM:242900
Snakebite Envenomation
Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hyponatremia, Epistaxis, Thrombocytopenia... ORPHA:449285
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Cerebellar hemorrhage, Thrombocytopenia, Fatigable weakness, Elevated... ORPHA:99901
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Large clumps of pigment irr... ORPHA:167
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Lichtenstein Syndrome
Neutropenia OMIM:246550
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cerebral... OMIM:618886
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypoalbuminemia, Anemia OMIM:608104
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Congenital thrombocytopenia, Petechiae, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Purpura, Reticulocytosis, Eleva... OMIM:235400
Dyskeratosis Congenita, Autosomal Recessive 1
Small nail, Pterygium of nails, Thrombocytopenia, Nail dysplasia, Sparse scalp hair, Hyperpigment... OMIM:224230
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Congenital Rubella Syndrome
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Splenomegaly ORPHA:290
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Increased circulating IgM level, Hirsutism, Neutropenia, Coarse hair, Syno... OMIM:617303
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair, Cafe-au-lait spot, Decreased circulating IgA level OMIM:616638
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia OMIM:613845
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Congenital Enterovirus Infection
Abnormal bleeding, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, H... ORPHA:292
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly, Thick hair ORPHA:263501
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality of the spleen ORPHA:85212
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired ... OMIM:614576
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia,... OMIM:227650
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Leukocytosis ORPHA:83601
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Gaucher Disease, Type I
Epistaxis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hyperpigmentation of the skin, Hypersple... OMIM:230800
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Vitiligo, Autoimmune thrombocytopenia, Aut... OMIM:614700
Tularemia
Thrombocytopenia, Increased circulating antibody level, Anemia, Leukocytosis ORPHA:3392
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Decreased HDL cholesterol concentration, Vacuolated... OMIM:278000
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251110
Lassa Fever
Gastrointestinal hemorrhage, Menometrorrhagia, Thrombocytopenia, Leukopenia, Spontaneous abortion ORPHA:99824
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia,... OMIM:600901
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Alopecia OMIM:253270
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Propionic Acidemia
Hyperglycinemia, Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thrombocytopenia, Anemia, Hype... OMIM:606054
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Testicular ... OMIM:222300
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Hypermelanotic macule, Intestinal bleeding OMIM:112200
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251100
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Alopecia totalis, Normochromic anemia, Elevated circulating creatine kinase con... OMIM:618775
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Felty Syndrome
Irregular hyperpigmentation, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemi... ORPHA:47612
Wilson Disease
Abnormality of the menstrual cycle, Thrombocytopenia, Anemia, Splenomegaly, Bruising susceptibility ORPHA:905
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Zika Virus Disease
Increased circulating IgM level, Retinal pigment epithelial mottling, Thrombocytopenia, Subcutane... ORPHA:448237
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Cystat... OMIM:277380
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Pseudo-Torch Syndrome 2
Thrombocytopenia, Petechiae, Cerebral hemorrhage OMIM:617397
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Gastrointestinal hemorrha... ORPHA:99147
Good Syndrome
Decreased circulating antibody level, Thrombocytopenia, Fatigable weakness, Anemia, Abnormal leuk... ORPHA:169105
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Bruising susceptibility, Neutropenia, Reticulocytopenia, Pancytop... OMIM:227645
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportio... ORPHA:1830
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Noonan Syndrome 4
Abnormal bleeding, Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia, Bruising... OMIM:610733
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... ORPHA:77259
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Decreased circulating antibody level, Lympho... ORPHA:100
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Anemia... OMIM:617591
Mirage Syndrome
Hypergonadotropic hypogonadism, Intracranial hemorrhage, Lymphopenia, Hyponatremia, Thrombocytope... OMIM:617053
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Neutropenia, Thrombocytopenia, Petec... ORPHA:2330
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Thrombocytopenia, Elevated circulating C-reactive protein... OMIM:610377
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Spontaneous abortion, Increased serum testosterone level ORPHA:96181
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... ORPHA:811
Transaldolase Deficiency
Synophrys, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:606003
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia ORPHA:508542
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypotriglyceridemia, Abnormality of circulating ... ORPHA:2298
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Panhypogammaglob... ORPHA:79124
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Abnormal spleen morphology, E... ORPHA:464329
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Pulmonary hemorrhage, Intraalveol... OMIM:222700
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulo... ORPHA:79277
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Adams-Oliver Syndrome
Sparse hair, Gastrointestinal hemorrhage, Absent fingernail, Thrombocytopenia, Hypoplastic finger... ORPHA:974
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage... ORPHA:340
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Pseudo-Torch Syndrome 1
Thrombocytopenia, Petechiae, Splenomegaly OMIM:251290
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Infertility, Thrombocytosis, Decreased circulating IgA leve... OMIM:212750
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Absent eyebrow, Thrombocytopenia, Hypertrichosis, Loss of eyelashes, Alopecia, ... OMIM:263700
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Granulo... OMIM:233600
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... ORPHA:244242
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Splenic rupture, Internal hemorrhage, Abnormality ... ORPHA:335
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Prolonged prothrombin time, Normocytic anemia OMIM:617941
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Aicardi-Goutieres Syndrome 1
Purpura, Thrombocytopenia, Petechiae, Splenomegaly, Hepatosplenomegaly OMIM:225750
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Leukocytosis, Neutropenia, Thrombocytopenia, Petechiae, Elevated circ... ORPHA:90051
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Hyperpigmentation of the skin, Cafe-au-lait spot, Anemia, Leukopenia, Bone marr... OMIM:603467
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Anemia, Le... ORPHA:470
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177910
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Increased circulating IgM level, Thick hair, Long eyelashes,... ORPHA:505248
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia, Decreased response to growth hormone stimuation test OMIM:609734
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Hypoalbuminemia, Decreased c... OMIM:212065
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small nail, Hirsutism, Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concent... OMIM:301056
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Hypomethioninemia, M... OMIM:277400
Fanconi Anemia, Complementation Group B