| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Sensorineural ... |
OMIM:155100 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... |
ORPHA:238459 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-... |
OMIM:617443 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... |
ORPHA:494444 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Sensor... |
ORPHA:182050 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Epistaxis, Impaired neutrop... |
OMIM:260570 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
| Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis |
ORPHA:71289 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Anemia |
ORPHA:294 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Imp... |
OMIM:124900 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased... |
OMIM:187900 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... |
ORPHA:98826 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia |
ORPHA:1059 |
| Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg... |
OMIM:139090 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hea... |
ORPHA:3226 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, S... |
OMIM:210250 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of neuronal migration, Subcutaneous hemorrhage |
ORPHA:1980 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
| Essential Thrombocythemia |
|
Myelofibrosis, Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal plate... |
ORPHA:3318 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
| Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Lo... |
OMIM:618116 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Low-frequency sensorineural hearing impairment, Hepatosplenomegal... |
OMIM:613101 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Forsythe-Wakeling Syndrome |
|
Low-set ears, Macrotia, Osteoporosis, Thrombocytopenia |
OMIM:613606 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Simplified gyral pattern, Chronic neutropenia, Anemia |
OMIM:619302 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia |
OMIM:615010 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neu... |
ORPHA:811 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Cystic acne... |
OMIM:604416 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Anemia, Radioulnar synostosis, Neutropenia, Congenital thromboc... |
OMIM:616738 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni... |
OMIM:301080 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia, Hear... |
OMIM:616435 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Absent circulating B... |
OMIM:619693 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Neutropenia, Thromb... |
OMIM:598500 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decreased proporti... |
OMIM:618944 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen... |
OMIM:616050 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal pinna m... |
ORPHA:79147 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Increased circulatin... |
ORPHA:3392 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Posteriorly ro... |
OMIM:608233 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Thrombocytopenia |
OMIM:615008 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Sensorineural hearing impairment, Radioulnar synostosis, Joint contracture of the 5... |
OMIM:194350 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytop... |
OMIM:301078 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e... |
OMIM:617475 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Maculopapular ... |
ORPHA:398124 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Recurrent skin infections, Partial absence of specific antibody ... |
OMIM:301082 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
| Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... |
ORPHA:507 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... |
ORPHA:2968 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Chilblains, Thrombocytopenia |
OMIM:612952 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
| Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconjunctival hem... |
OMIM:617718 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia |
OMIM:616022 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ... |
ORPHA:33355 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thromb... |
OMIM:612840 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Atelis Syndrome 1 |
|
Eczema, Bronchiectasis, Anemia, Leukopenia, Microtia, Thrombocytopenia |
OMIM:620184 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Petechiae, Recurrent fractures, Splenomegaly, An... |
OMIM:611490 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Increased circul... |
ORPHA:37748 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Myositis, Pericarditis, S... |
ORPHA:809 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineural hearing... |
ORPHA:47 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... |
ORPHA:86841 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:289916 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
| Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Eczema, Craniosynostosis, Erythema nodosum, Macrotia, Transien... |
ORPHA:3132 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... |
OMIM:209950 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... |
ORPHA:540 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Noonan Syndrome 12 |
|
Lymphopenia, Atopic dermatitis, Thrombocytopenia |
OMIM:618624 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Posteriorly rotated ears, Giant platelets, Anemia, Microtia, Low-set ears, Camptodact... |
OMIM:611209 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Limitation of joint mob... |
ORPHA:47612 |
| Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
| Zika Virus Disease |
|
Subcutaneous hemorrhage, Maculopapular exanthema, Skin rash, Pruritus, Increased circulating IgM ... |
ORPHA:448237 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Posteriorly rotated ears, Osteoporosis, Low-set ears, Thrombocytopenia |
OMIM:614727 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megalobla... |
ORPHA:35858 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone mineral density, An... |
ORPHA:848 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... |
OMIM:308230 |
| Acquired Purpura Fulminans |
|
Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrh... |
ORPHA:49566 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Thrombocytopenia, Malar rash, Serositis, Anemia |
ORPHA:231111 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, Thrombocytopeni... |
ORPHA:99828 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Boutonneuse Fever |
|
Petechiae, Maculopapular exanthema, Skin rash, Leukopenia, Increased circulating IgG level, Incre... |
ORPHA:83313 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Takenouchi-Kosaki Syndrome |
|
Posteriorly rotated ears, Increased mean platelet volume, Sensorineural hearing impairment, Low-s... |
OMIM:616737 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Progressive sensor... |
OMIM:607115 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Anemia, Decreased circulating total IgM, Panniculitis, Decreased circulati... |
OMIM:615758 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... |
OMIM:618459 |
| Fibrodysplasia Ossificans Progressiva |
|
Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu... |
ORPHA:337 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Increased proportion of... |
ORPHA:98848 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Skin rash, Eosinophilia, Craniosynostosis, Recurrent fractures, Increased circulating... |
OMIM:147060 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Pruritus, Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia, Hearing impairment |
ORPHA:858 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An... |
OMIM:620321 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... |
ORPHA:824 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, Increased circulating I... |
OMIM:618282 |
| Immunodeficiency 40 |
|
Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumonitis, Reduced... |
OMIM:616433 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia |
ORPHA:90308 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis... |
ORPHA:454831 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Arthri... |
OMIM:611762 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Prolidase Deficiency |
|
Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der... |
OMIM:170100 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
| Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... |
ORPHA:91547 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Rosaï-Dorfman Disease |
|
Osteolysis, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula... |
ORPHA:101096 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Thrombocytopenia |
OMIM:610333 |
| Babesiosis |
|
Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Anemia, Arthritis, Panniculiti... |
OMIM:617591 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Congenital Rubella Syndrome |
|
Skin rash, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocytopenia |
ORPHA:290 |
| Propionic Acidemia |
|
Pancytopenia, Eczema, Cerebellar hemorrhage, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Thr... |
OMIM:606054 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Splenomegaly, Hepatitis, Anemia, Hemophagocytosis, Neutropenia, ... |
ORPHA:158061 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Craniosynostosis, Keratitis, Increased circulating IgE level, Bronchiectasi... |
OMIM:618523 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
| Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myo... |
ORPHA:292 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepa... |
ORPHA:319218 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
| Syndromic Diarrhea |
|
Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of the thymus, Throm... |
ORPHA:84064 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob... |
OMIM:269840 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus, Eczema, Increa... |
OMIM:243700 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Hemochromatosis, Type 3 |
|
Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia |
OMIM:193670 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Sensorineural hearing impairment, Thiamine-responsive megaloblastic anemia,... |
OMIM:249270 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Cerebral hemorrhage, Purpura |
OMIM:614514 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Splenomegaly, Hyperkeratosis, Abnormal lymphocyte morphology |
ORPHA:2584 |
| Wilson Disease |
|
Pruritus, Splenomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Bruising susceptibility, P... |
ORPHA:905 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia |
OMIM:614520 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Craniofacial osteosclerosis, O... |
ORPHA:324964 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Microtia, Low... |
OMIM:222470 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash |
OMIM:619175 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis, Hypochromic microcy... |
ORPHA:3240 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis |
ORPHA:79242 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Sensorineural... |
OMIM:605432 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia, Purpura |
ORPHA:3204 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Progressive hearing impairment, Skin rash, Bilateral sensorineural hearing impairment |
OMIM:124950 |
| Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion... |
ORPHA:85212 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Congen... |
ORPHA:77297 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent skin infections, Joint stiffness, Splenomegaly, Reduce... |
OMIM:620210 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Anemia |
ORPHA:79402 |
| Lesch-Nyhan Syndrome |
|
Gout, Anemia |
ORPHA:510 |
| Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
| Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Pr... |
ORPHA:64743 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:603553 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoar... |
OMIM:614204 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le... |
ORPHA:98849 |
| Familial Benign Copper Deficiency |
|
Acne, Anemia |
ORPHA:1551 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Pruritus |
ORPHA:280785 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... |
OMIM:619858 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating... |
OMIM:619510 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anem... |
OMIM:259700 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Hemolytic anemia, Eczema |
OMIM:177000 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... |
ORPHA:381 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:79278 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Throm... |
OMIM:251000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia |
OMIM:619463 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,... |
ORPHA:293173 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Calvaria... |
OMIM:612714 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Conductive hearing impairment, Sensorineural hearing impairment, Ne... |
OMIM:610738 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infe... |
ORPHA:486 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Increased mean platelet volume, Flexion contracture, Camptodac... |
ORPHA:487796 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Punctate keratitis, Anemia, Palmoplantar hyperkeratosis |
OMIM:226670 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... |
ORPHA:330058 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating ... |
ORPHA:98813 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis |
OMIM:604777 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Anemia, Neutropenia |
OMIM:617056 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia, Hearing impairment |
ORPHA:2325 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Ch... |
ORPHA:79124 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:616577 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
| Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Junctional Epidermolysis Bullosa Inversa |
|
Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Anemia |
ORPHA:166113 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... |
ORPHA:324636 |
| Dermatitis Herpetiformis |
|
Pruritus, Recurrent fractures, Eczema, Microcytic anemia |
ORPHA:1656 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch... |
ORPHA:33110 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
| Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocytopenia |
OMIM:230800 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Posteriorly rotated ears, Fluctuating splenomegaly, Leu... |
OMIM:610377 |
| Sengers Syndrome |
|
Osteopenia, Thrombocytopenia |
OMIM:212350 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Joint stiffness, Malar rash, Leuko... |
OMIM:615934 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Microtia, Low-set ears, Neutropenia, Stoma... |
OMIM:277380 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... |
ORPHA:2330 |
| 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 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Periostitis, ... |
OMIM:612852 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time, Abnormality of bone mineral density |
ORPHA:1114 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... |
OMIM:615387 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Abnormality of neutrophils, Hearing impairment, Splenomegaly, Leukoc... |
ORPHA:1451 |
| Copper Deficiency, Familial Benign |
|
Anemia, Seborrheic dermatitis |
OMIM:121270 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Joint hypermobility, Thrombocytope... |
OMIM:617052 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Hematochezia, Anemia |
ORPHA:2070 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Infectious enceph... |
OMIM:267700 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Leukopenia, Bone marrow... |
OMIM:613989 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomega... |
OMIM:614576 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Splenomegaly, Interstitial pneumonitis, Anemia, Purpura |
OMIM:620296 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... |
ORPHA:36234 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Malar rash, Leukopenia, Arthritis, Microangiopathic hemo... |
ORPHA:93552 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Purpura |
ORPHA:375 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia |
ORPHA:169090 |
| Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE le... |
OMIM:256500 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... |
OMIM:615816 |
| Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Uveitis, Hepatit... |
ORPHA:319251 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
| Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... |
ORPHA:79503 |
| Omenn Syndrome |
|
Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnorma... |
ORPHA:39041 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Sensorineural hearing impairment, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Bone cyst, Anemia |
ORPHA:2668 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis, Conjunctiviti... |
ORPHA:575 |
| Snakebite Envenomation |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Thrombocyto... |
ORPHA:449285 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... |
OMIM:606593 |
| Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis |
ORPHA:231 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Chronic oral candidiasis, Decreased proportion of n... |
ORPHA:276 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Synostosis of carpal bones, Thrombocytopeni... |
ORPHA:2307 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... |
OMIM:600901 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Thrombocytopenia |
OMIM:617941 |
| Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia |
ORPHA:28 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Panniculitis, Acne inversa, Anemia |
OMIM:608068 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Myocarditis, Hepatit... |
ORPHA:829 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Generalize... |
ORPHA:391487 |
| Hemochromatosis, Type 4 |
|
Osteoarthritis, Anemia |
OMIM:606069 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:613845 |
| Oslam Syndrome |
|
Radioulnar synostosis, Anemia |
OMIM:165660 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Recurrent fractures, Anemia |
OMIM:618107 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
| Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Prolonged bleeding time, Abnormal helix morphology |
ORPHA:638 |
| Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Recurrent bacterial skin infectio... |
ORPHA:167 |
| Idiopathic Trachyonychia |
|
Circumungual hyperkeratosis, Atopic dermatitis, Autoimmune thrombocytopenia |
ORPHA:79153 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Microcytic anemia, Hyperkeratosis, Low-set ears, Polymicrogyria |
OMIM:612379 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpu... |
OMIM:127550 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... |
ORPHA:398063 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Thrombocytopenia, Anemia, Camptodactyly |
OMIM:608104 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia, Sensorineural hearing impairment |
OMIM:615438 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Recurrent pneumonia, Flexion contracture, Leukopenia, Prolonged prothrombin ti... |
OMIM:616271 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... |
OMIM:227650 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... |
ORPHA:781 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Roifman Syndrome |
|
Hip contracture, Eczema, Eosinophilia, Delayed proximal femoral epiphyseal ossification, Recurren... |
ORPHA:353298 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large... |
OMIM:301074 |
| Ollier Disease |
|
Osteolysis, Anemia, Joint stiffness |
ORPHA:296 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura |
OMIM:235400 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233690 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Osteoporosis, Bronchiectasis, Cheilitis, Absent isohemagglu... |
OMIM:615468 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anemia, Prolonged ... |
OMIM:212750 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Anemia |
OMIM:613313 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Braddock-Carey Syndrome 1 |
|
Macrotia, Posteriorly rotated ears, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutro... |
OMIM:227645 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Low-set ears |
OMIM:612528 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Hearing impairment |
OMIM:614946 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thro... |
ORPHA:464343 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Mirage Syndrome |
|
Petechiae, Thrombocytopenia, Radial club hand, Intracranial hemorrhage, Leukopenia, Aspiration pn... |
OMIM:617053 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia |
OMIM:614742 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:613990 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Recurrent pneumonia, Flexion contracture, Anemia, Leukopenia, Increased circulating... |
OMIM:617303 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Lissencephaly, Low-set ears, Arthrogryposis multiplex co... |
OMIM:208085 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Fractures of t... |
ORPHA:464329 |
| Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Low-set ears, Thrombocytopenia |
OMIM:606003 |
| Pseudo-Torch Syndrome 1 |
|
Petechiae, Splenomegaly, Lissencephaly, Low-set ears, Pachygyria, Polymicrogyria, Thrombocytopenia |
OMIM:251290 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
| Holocarboxylase Synthetase Deficiency |
|
Skin rash, Thrombocytopenia |
OMIM:253270 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Thrombocytopenia, Leukocytosis, Splenomegaly, Enterocolitis, Anemia, Neutropen... |
ORPHA:90051 |
| Sézary Syndrome |
|
Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar keratoderma, Erythroderma, Ab... |
ORPHA:3162 |
| Ulerythema Ophryogenesis |
|
Acne, Contact dermatitis |
ORPHA:3406 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
| Shigellosis |
|
Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative co... |
ORPHA:810 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decr... |
OMIM:242900 |
| Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Gray matter heterotopia, Polymicrogyria, Thrombocytopenia |
OMIM:617397 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing impairme... |
OMIM:603467 |
| Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... |
ORPHA:1304 |
| Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Sensorineural hearing impairment, Uveitis, Scleritis, Conj... |
ORPHA:1467 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Progressive hearing impairment, Lymphocytosis, Hypochromi... |
ORPHA:514 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Skin rash, Joint stiffness, Splenomegaly, Recurrent pneumon... |
OMIM:604173 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Overlap Myositis |
|
Leukopenia, Rheumatoid arthritis, Thrombocytopenia, Arthritis |
ORPHA:206572 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Bone marrow hypocellula... |
OMIM:224230 |
| Alg8-Cdg |
|
Low-set ears, Thrombocytopenia, Anemia, Camptodactyly |
ORPHA:79325 |
| Smith-Kingsmore Syndrome |
|
Perisylvian polymicrogyria, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Leukopenia, Arthritis, Malar ra... |
ORPHA:536 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Joint laxity, Anemia, Keratoconjunctivitis sicca, Microtia, Thrombocytopenia |
OMIM:620370 |
| Avian Influenza |
|
Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia, Infectious encephalitis,... |
ORPHA:454836 |
| Dermotrichic Syndrome |
|
Macrotia, Anemia |
ORPHA:99688 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proporti... |
ORPHA:1830 |
| Lujo Hemorrhagic Fever |
|
Stiff neck, Maculopapular exanthema, Skin rash, Excessive bleeding after a venipuncture, Myocardi... |
ORPHA:319213 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Li... |
ORPHA:39812 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Chilblains, Splenomegaly, Thrombocytopenia, Purpura |
OMIM:225750 |
| Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Coach Syndrome 3 |
|
Anemia |
OMIM:619113 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia |
OMIM:603278 |
| Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
| Chilblain Lupus 1 |
|
Chilblains |
OMIM:610448 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit... |
ORPHA:139402 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Acantholysis, Anemia, Conjunctivitis, Pa... |
ORPHA:36426 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation... |
ORPHA:2796 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia |
OMIM:620135 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Craniosynostosis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:525731 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Sensorineural he... |
OMIM:612394 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Finger joint hypermobility, Hyperextensibility at elbow, Knee joint hype... |
ORPHA:49042 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Hyperkeratotic papule, Anemia |
ORPHA:79410 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Ecz... |
ORPHA:3260 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia |
OMIM:618999 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Low-set ears, Lymphopenia, Anemia |
ORPHA:2268 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Roifman Syndrome |
|
Hip contracture, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media |
OMIM:616651 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hearing impairment |
OMIM:618838 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acantholysis, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thr... |
ORPHA:537 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy... |
OMIM:235700 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Splenomegaly, Osteolysis, Bone marrow hypocellularity |
ORPHA:391 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:615688 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Craniosynostosis, Pruritus, Recurrent... |
ORPHA:2314 |
| Gaucher Disease, Perinatal Lethal |
|
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Microtia, Low-set ... |
OMIM:608013 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Pancreatit... |
OMIM:222700 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis... |
OMIM:615846 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Petechiae, Eczema, Atopic dermatitis, Recurrent otitis media, Anemia |
OMIM:620331 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Osteop... |
ORPHA:79277 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy... |
OMIM:259720 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke... |
OMIM:557000 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time |
ORPHA:99901 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Recurrent aspiration pneumonia, Anemia |
OMIM:230900 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Joint hypermobility, Splenomegaly, Sensorineural hearing imp... |
OMIM:300972 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu... |
OMIM:209920 |
| Wolman Disease |
|
Anemia, Splenomegaly, Bone-marrow foam cells |
ORPHA:75233 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Protruding ear, Increased mean corpuscular volume, Chronic otitis me... |
ORPHA:261250 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ... |
OMIM:601495 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Posteriorly rotated ears, Low-set ears, Thickened helices, Bruising susceptibi... |
OMIM:610733 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:306400 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash |
ORPHA:90036 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Neutropenia, Stomatitis |
ORPHA:79284 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... |
ORPHA:90038 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Prolonged bleeding time, Recurrent fractures, Decreased calvarial ossification, Condu... |
OMIM:616229 |
| Chronic Granulomatous Disease |
|
Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis media, Inflamm... |
ORPHA:379 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Anemia |
ORPHA:209964 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Protruding ear, Anemia, Low-set ears, Thrombocytopenia |
OMIM:620072 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Radioulnar synostosis, Atresia of the external auditory canal, B... |
OMIM:614900 |
| Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash |
OMIM:105200 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
| Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Osteoporosis, Bronchiectasis, Recurrent aphthous stomatiti... |
OMIM:613075 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Sandifer Syndrome |
|
Hematemesis, Esophagitis, Anemia |
ORPHA:71272 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reti... |
ORPHA:99826 |
| Yellow Fever |
|
Abnormal bleeding, Acute pancreatitis, Neutrophilia, Skin rash, Excessive bleeding after a venipu... |
ORPHA:99829 |
| Kikuchi-Fujimoto Disease |
|
Skin rash, Pruritus, Splenomegaly, Pustule, Myocarditis, Anemia, Leukopenia, Lymphocytosis, Neutr... |
ORPHA:50918 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint ... |
ORPHA:1901 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Posteriorly rotated ears, Craniosynostosis, Leukopenia, Large earlobe, Low-set ears, Arthrogrypos... |
OMIM:301056 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level |
OMIM:226300 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Atresia of the ex... |
OMIM:612562 |
| Caroli Syndrome |
|
Abnormal bleeding, Liver abscess, Cholangitis, Hematemesis, Hypersplenism, Leukocytosis, Pruritus... |
ORPHA:480520 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp... |
ORPHA:247353 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Alport Syndrome 1, X-Linked |
|
Sensorineural hearing impairment, Nephritis, Thrombocytopenia |
OMIM:301050 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Decreased circulating anti... |
ORPHA:79330 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Intestinal bleeding, Bon... |
OMIM:612199 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Alg12-Cdg |
|
Abnormal pinna morphology, Partial absence of specific antibody response to Haemophilus influenza... |
ORPHA:79324 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Low-set ears, Neutropenia, ... |
OMIM:227646 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Prolonged prothrombin time, Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Overfolded helix, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia |
OMIM:617827 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Microtia, Low-set ears, Camptodactyly, Recurrent otitis media, Thrombocytopenia |
ORPHA:261323 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Conjunctivitis, Pathologic fracture, Join... |
OMIM:263700 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Thrombocytopenia, Anemia, High-frequency hearing impairment |
OMIM:619743 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Inflammation of the large intestine, Colitis, G... |
OMIM:203300 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... |
OMIM:251260 |
| Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hearing impairment |
ORPHA:46059 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Low-set ears, Neutropenia, Macrotia, Thrombocytopenia |
OMIM:277400 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Reticulocytopenia, Microtia, Steroid-responsive anem... |
OMIM:613309 |
| Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
| Castleman Disease |
|
Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Fused cervical vertebrae, Sensorineural hearing impairment, Th... |
ORPHA:3320 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Erysipelas |
OMIM:214900 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia, Radial dysplasia |
OMIM:617244 |
| Farber Disease |
|
Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytopenia |
ORPHA:333 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Hematochezia, Inflammation of the large intest... |
OMIM:615895 |
| Dyskeratosis Congenita |
|
Coarse metaphyseal trabecularization, Recurrent fractures, Abnormality of neutrophils, Thrombocyt... |
ORPHA:1775 |
| Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
| Atelis Syndrome 2 |
|
Protruding ear, Anemia, Vitreous hemorrhage, Low-set ears, Thrombocytopenia |
OMIM:620185 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Hearing impairment |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Hearing impairment |
OMIM:618839 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Splenomegaly, Inflammatory abnormality of the skin, Low-set ears |
ORPHA:79332 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... |
ORPHA:335 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash |
ORPHA:1658 |
| Gaucher Disease |
|
Abnormal bleeding, Osteopenia, Pancytopenia, Osteomyelitis, Increased bone mineral density, Recur... |
ORPHA:355 |
| Tick-Borne Encephalitis |
|
Stiff neck, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:297 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemia, Hematochezia |
ORPHA:329971 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia |
ORPHA:36238 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Splenomegaly, Infectious encephalitis |
ORPHA:99745 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Constrictive pericarditis, Anemia |
ORPHA:67 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Increased circulating IgE level |
OMIM:607676 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... |
OMIM:614162 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Uveitis... |
ORPHA:85408 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Skin rash, Anemia |
ORPHA:44890 |
| Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Hepatitis, Hypochromic microcytic anemia, Arthrogryposis multiplex congenita... |
ORPHA:440713 |
| Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... |
OMIM:619381 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Flexion contracture, Aspiration pneu... |
OMIM:301072 |
| Lead Poisoning |
|
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Cranial hyperostosis... |
ORPHA:330015 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ... |
ORPHA:2298 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia |
ORPHA:457351 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Eczema, Abnormality of neutrophils, Craniosynostosis, Protrudi... |
ORPHA:235 |
| Tangier Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Craniosynostosis, An... |
OMIM:620005 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Pneumonia, Glomerulonephritis, Hematemesis, Thrombocytopenia, Leukocytosis, Acute tubu... |
ORPHA:340 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulati... |
ORPHA:505248 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's... |
OMIM:249100 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased circulating tot... |
OMIM:612301 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... |
ORPHA:32960 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino... |
ORPHA:183 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
| Lysinuric Protein Intolerance |
|
Abnormal bleeding, Osteopenia, Glomerulonephritis, Osteoporosis, Hepatosplenomegaly, Anemia, Leuk... |
ORPHA:470 |
| Scrub Typhus |
|
Abnormal bleeding, Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Skin rash, Aplastic anem... |
ORPHA:2909 |
| Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
| Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocytic hemolytic ane... |
OMIM:611881 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Conductive hearing impairment, ... |
ORPHA:99843 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Anemia, Hearing impairment |
OMIM:613951 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
| Listeriosis |
|
Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... |
ORPHA:533 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Flexion contracture of finger, Parotitis, Camptodactyly of finger, Increased circul... |
OMIM:256040 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Abnormality of neuronal migra... |
ORPHA:647 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Septic arth... |
ORPHA:544482 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Normochromic anemia |
ORPHA:247691 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Low-set ears, Thrombocytopenia |
ORPHA:572798 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Erythema Elevatum Diutinum |
|
Skin rash |
ORPHA:90000 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Subdural hemorrhage, Low-set ears, Neutropenia, Stomatitis, Thrombocytopenia |
ORPHA:79282 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularit... |
ORPHA:2785 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Thyroiditis |
OMIM:618985 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Pruritus, Reduced bone mineral density, Anemia, Hearing impairment |
OMIM:619377 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, ... |
OMIM:619525 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Bone cyst, Abnormal spleen morphology, Increased circul... |
ORPHA:284 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Intracranial hemorrhage, Anemi... |
ORPHA:163979 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Macrotia, Flexion contracture, Prolonged prothrombin time, Thrombocytos... |
OMIM:212065 |
| Developmental And Epileptic Encephalopathy 50 |
|
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis |
OMIM:616457 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Prolonged bleeding following circumcision, Hep... |
OMIM:274000 |
| Prolidase Deficiency |
|
Pruritus, Splenomegaly, Crusting erythematous dermatitis, Reduced bone mineral density, Hyperkera... |
ORPHA:742 |
| Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa |
OMIM:301845 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
| Leptospirosis |
|
Pericarditis, Skin rash, Retinal hemorrhage, Uveitis, Hepatitis, Subconjunctival hemorrhage, Opti... |
ORPHA:509 |
| Pseudopelade Of Brocq |
|
Recurrent skin infections, Cheilitis |
ORPHA:129 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Atypical or pr... |
OMIM:277900 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas... |
ORPHA:79078 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pruritus, Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammat... |
ORPHA:284426 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Abscess, Eosinophilia, Pneumonia, Pruritus, Abnormality o... |
ORPHA:228123 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Osteoporosis, Hepatosplenomegaly,... |
OMIM:619487 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Eczema |
ORPHA:1525 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Camptodactyly of finger, Flexion contracture, Cheilitis, Hyperkeratosi... |
ORPHA:2908 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... |
ORPHA:73263 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Abnormal pinna morphology, O... |
ORPHA:79318 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis |
OMIM:612387 |
| Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Blepharitis, Eczema |
OMIM:618535 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Craniosynostosis, Decreased circulating antibody level, Palmoplantar k... |
ORPHA:79396 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Skin rash, Hepatitis, Intracranial hemorrhage, Pr... |
ORPHA:90062 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Conjunctivitis, Bone marr... |
OMIM:305000 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas |
OMIM:134610 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia |
ORPHA:94093 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Osteopenia, Epistaxis, Chronic neutropenia, Prolonged bleeding following proce... |
ORPHA:79259 |
| Malt Lymphoma |
|
Posterior uveitis, Anemia |
ORPHA:52417 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... |
ORPHA:699 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
| Sialuria |
|
Prolonged prothrombin time, Joint hypermobility, Low-set ears, Hepatosplenomegaly |
ORPHA:3166 |
| American Trypanosomiasis |
|
Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Pruritus, Splenomegaly, Osteoporosis, Hepatitis, Uvei... |
ORPHA:171 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Rheumatoid arthritis |
ORPHA:48377 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Skin rash, Osteolysis, Anemia |
ORPHA:35687 |
| Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
| Nephronophthisis 11 |
|
Anemia |
OMIM:613550 |
| Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... |
ORPHA:29073 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Abnormal incisura morphology, Sensorineural hearing impairment, Elbow flexion contract... |
OMIM:122470 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout, Anemia |
OMIM:174000 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteopor... |
ORPHA:77293 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Sensorineural hearing ... |
OMIM:253260 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Abscess, Pneumon... |
ORPHA:125 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Splenomegaly, Sensorineural hearing impairment, Vacuolated ... |
ORPHA:565612 |
| Sarcoidosis |
|
Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Parotitis, Erythema nodosum, Increased T... |
ORPHA:797 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Deeah Syndrome |
|
Low-set ears, Decreased hemoglobin concentration, Thrombocytopenia, Hearing impairment |
OMIM:619004 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Jacobsen Syndrome |
|
Low-set ears, Flexion contracture, Thrombocytopenia |
OMIM:147791 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time, Hepatitis |
OMIM:613812 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Anemia |
OMIM:174900 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, External ear malformation, Knee flexion contr... |
ORPHA:3103 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Eczema, Aplasia/Hypoplasia of the earlobes, Bone marrow hypoce... |
ORPHA:2308 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobulbar optic neur... |
ORPHA:90340 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... |
ORPHA:900 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Camptodactyly of finger, Keratitis, Retinal hemorrhage, Uveitis, Osteoly... |
ORPHA:464 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Recurrent skin infections, Anemia |
ORPHA:89842 |
| Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Mem... |
ORPHA:49041 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Abnormality of thrombocytes, Skin rash, Pruritus, Retinal hemo... |
ORPHA:758 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic ... |
ORPHA:51 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Osteopenia, Acanthocytosis, Prolonged prothrombin time, Kerat... |
ORPHA:14 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Acne, Abnormality of thrombocytes, Impaired T cell function, Seborrh... |
ORPHA:567 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Hypophosphatemic r... |
OMIM:276700 |
| Lymphatic Malformation 7 |
|
Anemia |
OMIM:617300 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
| Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... |
ORPHA:247598 |
| Hardikar Syndrome |
|
Cholangitis, Hematemesis, Splenomegaly, Hypersplenism, Pruritus, Osteoporosis, Hepatosplenomegaly... |
OMIM:301068 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Conjunctivit... |
ORPHA:2331 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,... |
OMIM:188400 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time, Flexion contracture, Hepatosplenomegaly |
ORPHA:367 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S... |
ORPHA:91500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections |
ORPHA:94059 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tracheomalacia |
OMIM:618280 |
| Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Granuloma, Infectious encephal... |
ORPHA:68 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepat... |
ORPHA:731 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate,... |
ORPHA:83617 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Skin rash, Acanthocytosis, Pruritus, Normochromic anemia, Stomatitis |
ORPHA:97280 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, External ear malformation, Thrombocytopenia, Reduced ... |
ORPHA:84 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocyt... |
ORPHA:534 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Polycythemia |
ORPHA:309854 |
| Japanese Encephalitis |
|
Neutrophilia, Stiff neck, Elbow flexion contracture, Increased circulating IgM level, Increased c... |
ORPHA:79139 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Sensorineu... |
OMIM:163950 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Pruritus, Lymphopenia |
OMIM:613471 |
| Osteogenesis Imperfecta |
|
Osteopenia, Mixed hearing impairment, Recurrent fractures, Cerebral hemorrhage, Joint hypermobili... |
ORPHA:666 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Skin rash, Hyperostosis |
ORPHA:53715 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Flexion contra... |
ORPHA:79408 |
| Cushing Disease |
|
Lymphopenia, Acne, Leukocytosis, Osteoporosis, Recurrent cutaneous fungal infections, Decreased e... |
ORPHA:96253 |
| Hennekam Syndrome |
|
Lymphopenia, Camptodactyly of finger, Craniosynostosis, External ear malformation, Splenomegaly, ... |
ORPHA:2136 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Thrombocytopenia |
ORPHA:466650 |
| Ogden Syndrome |
|
Eczema, Protruding ear, Iron deficiency anemia, Low-set ears, Recurrent otitis media, Macrotia, P... |
OMIM:300855 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
| Liver Disease, Severe Congenital |
|
Joint laxity, Chronic gastritis, Eczema, Pneumonia, Thrombocytopenia, Splenomegaly, Peritonitis, ... |
OMIM:619991 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Osteoarthritis, Generalized joint laxity, Ecchymosis, Bruisi... |
ORPHA:287 |
| Chikungunya |
|
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Joint stiffness, Pruritus, Eryt... |
ORPHA:324625 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... |
ORPHA:117 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis |
ORPHA:294023 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Epistaxis, Anemia |
OMIM:175050 |
| Isolated Biliary Atresia |
|
Pruritus, Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation |
ORPHA:556 |
| Plague |
|
Abnormal bleeding, Chapped lip, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis, Erythema nod... |
ORPHA:707 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Osteoporosis, Gastrointestinal inflammation, Pyoderma, Anemia |
ORPHA:79404 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl... |
ORPHA:48435 |
| Aspartylglucosaminuria |
|
Joint laxity, Acne, Vacuolated lymphocytes, Neutropenia, Pathologic fracture |
OMIM:208400 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
| Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin |
OMIM:610768 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Prolonged prothrombin time |
OMIM:214950 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Splenomegaly, Achilles tendon contracture, Reduced bone mineral density, ... |
ORPHA:404454 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Sensorineural hearing impairment |
OMIM:614300 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
| Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
| Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Abnormal earlobe morphology, Hematochezia, Prolonged prothro... |
ORPHA:96168 |
| Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
| Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Prolonged prothrombin time, Hepatitis, Chronic hepatitis |
OMIM:614921 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time, Sensorineural hearing impairment |
OMIM:618329 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
