Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent herpes, Recurrent Klebsiella infections, Recurr... |
OMIM:614372 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... |
ORPHA:169079 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:608184 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia, Recurrent infec... |
OMIM:615214 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... |
OMIM:612692 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... |
OMIM:607594 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Chronic lymphocytic meningitis, Recurrent viral infections, R... |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Re... |
ORPHA:572 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... |
ORPHA:911 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... |
OMIM:615285 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Malaria |
|
Anemia, Gait imbalance, Thrombocytopenia |
ORPHA:673 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph... |
OMIM:616005 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Rectal abs... |
OMIM:601495 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... |
OMIM:619707 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... |
OMIM:226990 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... |
ORPHA:331206 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand... |
OMIM:147060 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytope... |
OMIM:619281 |
Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... |
ORPHA:169090 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos... |
OMIM:615387 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia |
OMIM:613496 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Pure red cell aplasia, Recurrent... |
OMIM:613179 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Increased T cell count, Invasive fungal infection, Severe vir... |
ORPHA:98813 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased... |
ORPHA:169154 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent b... |
OMIM:307200 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Choreoathetosis, Anemia, Dystonia, Thrombocytopenia |
ORPHA:289916 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... |
OMIM:618048 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:27 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Hemolytic anemia, Abnormal proportion of CD8-positive T cells, ... |
ORPHA:443811 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Hemolytic anemia, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... |
OMIM:308230 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia |
OMIM:610333 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Ataxia, Thrombocytopenia |
OMIM:231000 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... |
OMIM:615468 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent he... |
ORPHA:183675 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... |
OMIM:615816 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Recur... |
OMIM:102700 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... |
OMIM:608233 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, Anemia |
ORPHA:88 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Dysmetria, Athetosis, Dystonia, Thrombocytopenia |
OMIM:617710 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomegaly, Monocytos... |
OMIM:619644 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Ataxia, Thrombocytopenia |
OMIM:249270 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Intention tremor, Thrombocytope... |
OMIM:254900 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... |
ORPHA:167 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... |
OMIM:613011 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia |
OMIM:616577 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutrophil morphology... |
ORPHA:51636 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Neutropenia, Chronic neutropenia, Recurrent infections |
OMIM:258360 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... |
OMIM:617053 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia |
ORPHA:3240 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:619151 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:507 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:620184 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Cog4-Cdg |
|
Ataxia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... |
ORPHA:221139 |
Propionic Acidemia |
|
Pancytopenia, Neutropenia, Anemia, Dystonia, Thrombocytopenia |
OMIM:606054 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:381 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:290 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Dysmetria, Athetosis, Difficulty walking, Limb dystonia, Thrombocytopenia |
ORPHA:572798 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Thrombocytopenia |
ORPHA:79242 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Recurrent staphylococcal infections, ... |
ORPHA:2968 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Difficulty walking, Anemia |
ORPHA:905 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia |
ORPHA:36238 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:225750 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia |
ORPHA:3322 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Recurrent bacterial infections, Leukocytosis, Anemia |
OMIM:615895 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thromb... |
OMIM:242900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Alg8-Cdg |
|
Thrombocytopenia, Ataxia, Anemia |
ORPHA:79325 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:610377 |
Pneumocystosis |
|
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis |
ORPHA:723 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... |
ORPHA:158048 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:613845 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Adult-Onset Still Disease |
|
Neutrophilia, Splenomegaly, Recurrent pharyngitis, Leukocytosis, Meningitis |
ORPHA:829 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Ataxia, Aplastic anemia, Leukopenia, Thrombocytopenia |
OMIM:613990 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Recurrent bacterial infe... |
OMIM:300972 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes |
OMIM:248500 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Ataxia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thr... |
OMIM:603553 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Ataxia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Thrombocytopenia, Limb dystonia |
ORPHA:457351 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Inability to walk, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:251290 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:64743 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist... |
ORPHA:845 |
Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Pediatric-Onset Graves Disease |
|
Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:614576 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
Overlap Myositis |
|
Leukopenia, Difficulty walking, Thrombocytopenia |
ORPHA:206572 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:259700 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:170100 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Recurrent infections, Chronic oral ... |
OMIM:260920 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Recurrent mycobacterial infections, Severe varicella z... |
ORPHA:48435 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Anemia, Dystonia, Thrombocytopenia |
OMIM:612199 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:77259 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia |
OMIM:301056 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Recurrent infections, Chronic lymphatic leuke... |
ORPHA:3243 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Gaucher Disease Type 3 |
|
Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Thrombocytopenia |
ORPHA:77261 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Chronic lymphocytic meningitis, Microcytic anem... |
ORPHA:99843 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:93552 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Ataxia, Increased mean platelet volume |
OMIM:616737 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Splenomegaly, Truncal ataxia, Thrombocytopenia |
OMIM:301072 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia |
OMIM:615758 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:617591 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
Mogs-Cdg |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Wilson Disease |
|
Hemolytic anemia, Dystonia, Tremor, Splenomegaly, Hand tremor, Anemia, Limb dystonia, Thrombocyto... |
OMIM:277900 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia, Dysmetria |
OMIM:620185 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:505248 |
Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Tremor, Leukocytosis, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia |
ORPHA:464329 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
Fibular Hemimelia |
|
Difficulty walking, Thrombocytopenia |
ORPHA:93323 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Lysinuric Protein Intolerance |
|
Thrombocytopenia, Hepatosplenomegaly, Recurrent bacterial infections, Leukopenia, Hemophagocytosi... |
ORPHA:470 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia |
ORPHA:36234 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Tick-Borne Encephalitis |
|
Tremor, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Alg12-Cdg |
|
B lymphocytopenia, Thrombocytopenia |
ORPHA:79324 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Shigellosis |
|
Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:810 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Dystonia, Thrombocytopenia |
OMIM:615846 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... |
ORPHA:171 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thr... |
ORPHA:699 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplen... |
ORPHA:2072 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Q Fever |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:781 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:222700 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
Gaucher Disease |
|
Pancytopenia, Ataxia, Tremor, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:355 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Dyskeratosis Congenita |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly |
ORPHA:1775 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Dif... |
ORPHA:51 |
Tangier Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:305000 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia |
ORPHA:2785 |
Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Caroli Syndrome |
|
Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:480520 |
Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:263700 |
Ogden Syndrome |
|
Iron deficiency anemia, Torticollis, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Thrombocytopenia |
ORPHA:2298 |
Brucellosis |
|
Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia |
ORPHA:1304 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:163979 |
Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, T... |
ORPHA:77293 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
Osteogenesis Imperfecta |
|
Loss of ambulation, Ataxia, Gait disturbance, Thrombocytopenia |
ORPHA:666 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:340 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... |
ORPHA:289390 |
22Q11.2 Deletion Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:567 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... |
ORPHA:99826 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Thrombocytopenia |
ORPHA:544482 |
Jacobsen Syndrome |
|
Thrombocytopenia |
ORPHA:2308 |
Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Thrombocytopenia |
ORPHA:534 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Thrombocytopenia |
ORPHA:466650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Anemia |
ORPHA:438213 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:99827 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia |
OMIM:619525 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
OMIM:301068 |
Acute Liver Failure |
|
Ataxia, Thrombocytopenia |
ORPHA:90062 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:731 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Microcytic anemia |
OMIM:256040 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Liver Disease, Severe Congenital |
|
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia |
OMIM:619991 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Digeorge Syndrome |
|
Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia |
OMIM:188400 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |
Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |