Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Leukocytosis, Lower limb pain, Congenital hip dislocation... |
ORPHA:168621 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count |
OMIM:618261 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, S... |
OMIM:209950 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Arthr... |
OMIM:604416 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... |
ORPHA:232 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Thrombocytosis |
OMIM:619281 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Melanocytic ne... |
ORPHA:3319 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... |
OMIM:619510 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Immunodeficiency 54 |
|
Hyperpigmentation of the skin, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Polyarticular arthritis |
OMIM:235900 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Lymphopenia, Joint hypermobility, Scoliosis, Increased susceptibility to fractures, Neutropenia, ... |
OMIM:619752 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Gout, Increased mean corpuscu... |
ORPHA:90041 |
Immunodeficiency 92 |
|
Osteomyelitis, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proporti... |
OMIM:619652 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Multiple Myeloma |
|
Bone pain, Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating ... |
ORPHA:29073 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Refractory Anemia With Excess Blasts |
|
Bone pain, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnor... |
ORPHA:86839 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Joint stiffness, Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, ... |
OMIM:615934 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Fair hair, Ocular albinism, Splenomegaly, Generalized hypopigme... |
OMIM:608233 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Art... |
OMIM:301074 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Pelger-Huet Anomaly |
|
Kyphosis, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neu... |
OMIM:169400 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... |
ORPHA:2070 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Hypophosphatasia |
|
Recurrent fractures, Anemia, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Immunodeficiency 68 |
|
Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count, Septic arthritis |
OMIM:612260 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased proportion autorea... |
OMIM:615559 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Scoliosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Joint hy... |
OMIM:619013 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Bone pain, Mandibular osteomyelitis, Hypocalcemia, Osteomyelitis, ... |
ORPHA:53 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Arthritis, Hyperpigmentation of the sk... |
OMIM:604250 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hypophosphatasia, Infantile |
|
Widely patent fontanelles and sutures, Craniosynostosis, Vertebral clefting, Elevated plasma pyro... |
OMIM:241500 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia |
OMIM:226300 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Acute Peripheral Arterial Occlusion |
|
Limb pain, Leukocytosis, Lower limb pain |
ORPHA:90064 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia... |
OMIM:608104 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Generalized hypopigmentation, Hypoplasia of the thymus, Hypopigmentati... |
ORPHA:84064 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Splenomegaly, Leukopenia, Short neck, Hypoalbuminemia, Neutropenia, Bone mar... |
OMIM:617303 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Osteopenia, B lymphocytopenia, Arthritis, Hyperlordosis, Dec... |
ORPHA:221139 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Autoimmune thrombocytopenia, Decreased proportion of class-switched memory B cells, ... |
OMIM:619846 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Mastocytosis |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Abnormality of skin pigmentation, ... |
ORPHA:98292 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Hyperuricemia, Leukocytosis, Hyperammonemia |
ORPHA:134 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Generalized hypopigmentation, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:222470 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Lower limb pain, Splenomegal... |
OMIM:611762 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, B lymphocytopenia |
OMIM:619851 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density, Splenomegaly, Abnormality of thrombocytes, Delayed sk... |
ORPHA:172 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Osteomyelitis, Arthritis, Neutropenia, Anemia, Thrombocytopenia, Hypopigmented skin... |
ORPHA:47 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Joint swelling, Osteomyelitis, Elevated circulating C-reac... |
OMIM:619381 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hyperuricemia, Anemia |
ORPHA:20 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Osteomyelitis... |
ORPHA:37042 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Normocytic anemia, Macrocytic anemia, Vitiligo, Generalized bone demineralization, ... |
ORPHA:199299 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Flexion contracture, Camptodactyly |
OMIM:604273 |
Cinca Syndrome |
|
Patellar overgrowth, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
OMIM:607115 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia |
OMIM:191420 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia |
ORPHA:100024 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Hypopigmentation of the skin, Anisocytosis, Leukopenia, Increased erythrocyte proto... |
ORPHA:79277 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Abscess, Elevated circulating... |
ORPHA:36234 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... |
ORPHA:251004 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis |
OMIM:120100 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Increased CD4:CD8 ratio... |
OMIM:618048 |
Lathosterolosis |
|
Butterfly vertebrae, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, A... |
OMIM:607330 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Hyperpigmentation ... |
ORPHA:2905 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Lumbar hyperlordosis, Abnormality of retinal pigmentation, Flexion contracture, ... |
ORPHA:505248 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Hypocalcemia, Osteomyelitis, Increased bone mineral dens... |
OMIM:259700 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Osteoporosis, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Rickets |
OMIM:212750 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Polyarticular arthritis |
OMIM:616744 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Brucellosis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly,... |
ORPHA:1304 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Scoliosis, Camptodactyly |
OMIM:616737 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia |
OMIM:614162 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Splenomegaly, Scoliosis, Thoracic kyphosis, Elbow flexion contracture, Hypercalcemi... |
OMIM:618440 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Schnitzler Syndrome |
|
Bone pain, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia |
ORPHA:37748 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Polyarticular arthritis |
OMIM:191900 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis, Abnorm... |
ORPHA:324636 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Abnormality of iron homeostasis,... |
ORPHA:848 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophili... |
OMIM:612852 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Hepatocellular Carcinoma |
|
Bone pain, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Short ne... |
ORPHA:124 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Flexion contracture, Osteopenia, Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Alg12-Cdg |
|
Abnormal bone ossification, Scoliosis, B lymphocytopenia, Camptodactyly, Ulnar deviation of the w... |
ORPHA:79324 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Spotty hyperpigmentation, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Noonan Syndrome 12 |
|
Spinal canal stenosis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia |
ORPHA:514 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Irregular hyperpigmentation, Flexion contracture, Abnormal circulating selenium concentration, De... |
ORPHA:89842 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... |
ORPHA:2298 |
Johanson-Blizzard Syndrome |
|
Anemia, Delayed skeletal maturation, Hypoproteinemia |
ORPHA:2315 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Abnormal mac... |
ORPHA:353 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... |
ORPHA:90363 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin, Hy... |
ORPHA:95409 |
Diamond-Blackfan Anemia 1 |
|
Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemia, Delayed cranial suture closure, H... |
OMIM:105650 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Bone pain, R... |
ORPHA:89937 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Back pain, Hyperammonemia, Leukopenia, Elevated circulating creatine ki... |
ORPHA:99826 |
Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
Cinca Syndrome |
|
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Joint dislocati... |
ORPHA:1451 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Delayed closure of the anterior fontanelle, Calvarial osteosclerosi... |
OMIM:244460 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Incre... |
OMIM:259720 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Generalized reticulate brown pigmentation, Craniosynostosis, Hypopigmentation of the skin, Depigm... |
ORPHA:79396 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
Adamantinoma |
|
Bone pain, Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Platyspondyly, Short neck, Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowin... |
ORPHA:93315 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophil... |
ORPHA:3260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... |
OMIM:606612 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Scoliosis, Osteoporosis, Hemolytic anemia, Hypoalbuminemia, Anemia |
OMIM:619487 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Abnormality of retinal pigment... |
ORPHA:14 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... |
OMIM:612840 |
Addison Disease |
|
Normocytic anemia, Increased circulating renin level, Vitiligo, Generalized bone demineralization... |
ORPHA:85138 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1930 |
Amed Syndrome, Digenic |
|
Leukopenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Thrombocytopenia,... |
OMIM:619151 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, P... |
OMIM:619767 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly |
OMIM:618042 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Chondrocalcinosis, ... |
OMIM:277900 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:617099 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Immunodeficiency 64 |
|
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... |
OMIM:618534 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:614204 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture |
ORPHA:367 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hy... |
OMIM:300635 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Alpha-Thalassemia |
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Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Oculocerebrodental Syndrome |
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Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Delayed skeletal matura... |
ORPHA:557003 |
Hypervitaminosis A, Susceptibility To |
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Hypercalcemia, Lower limb pain |
OMIM:240150 |
Fanconi Anemia, Complementation Group I |
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Short neck, Fused cervical vertebrae, Neutropenia, Bone marrow hypocellularity, Cafe-au-lait spot |
OMIM:609053 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Hyperpigmentation of the skin, Anemia |
OMIM:175500 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
Alg6-Cdg |
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Decreased LDL cholesterol concentration, Scoliosis, Hypoalbuminemia |
ORPHA:79320 |
Neutropenia, Severe Congenital, X-Linked |
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Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Flexion contracture, Scoliosis, Camptodactyly, Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
Adult-Onset Still Disease |
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Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
ORPHA:829 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Hermansky-Pudlak Syndrome 9 |
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Ocular albinism, Hypopigmentation of the skin, Leukopenia, Abnormal platelet aggregation, Thrombo... |
OMIM:614171 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Short neck, Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Infantile Myofibromatosis |
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Irregular hyperpigmentation, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal sacrum morpho... |
ORPHA:2591 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Acute Panmyelosis With Myelofibrosis |
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Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancytopenia, Bone mar... |
ORPHA:86843 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Alg1-Cdg |
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Kyphosis, Limitation of joint mobility, Scoliosis, Hypoalbuminemia |
ORPHA:79327 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Limited elbow flexion, Limitation of movement at ankles, Limited hip movement, Leukocytosis |
ORPHA:206594 |
Myopathy With Extrapyramidal Signs |
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Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Leukocytosis, Splenomegaly, E... |
OMIM:615673 |
Al Amyloidosis |
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Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies |
ORPHA:85443 |
Juvenile Polyposis Syndrome |
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Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Blue Diaper Syndrome |
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Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... |
OMIM:301078 |
Sarcoidosis |
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Joint swelling, Hypopigmentation of the skin, Eosinophilia, Leukopenia, Hemolytic anemia, Hyperpi... |
ORPHA:797 |
Griscelli Syndrome Type 2 |
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Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... |
ORPHA:79477 |
Aggressive Systemic Mastocytosis |
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Bone pain, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteopor... |
ORPHA:98850 |
Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
Nephrotic Syndrome, Type 9 |
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Hypoalbuminemia |
OMIM:615573 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... |
ORPHA:572 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... |
OMIM:619705 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Osteopenia, Delayed skeletal maturation, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
Cryptogenic Organizing Pneumonia |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Galloway-Mowat Syndrome 6 |
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Delayed skeletal maturation, Hypoalbuminemia |
OMIM:618347 |
Focal Segmental Glomerulosclerosis 6 |
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Hypoalbuminemia |
OMIM:614131 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Galloway-Mowat Syndrome 8 |
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Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
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Hypoalbuminemia |
ORPHA:54370 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Myopathy, Tubular Aggregate, 2 |
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Spinal rigidity, Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contra... |
OMIM:615883 |
Thrombocytopenia 1 |
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Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... |
OMIM:313900 |
Sea-Blue Histiocytosis |
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Sea-blue histiocytosis, Splenomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin... |
ORPHA:158029 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypoalbuminemia |
OMIM:617156 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Macrocephaly/Autism Syndrome |
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Lymphopenia, Splenomegaly |
OMIM:605309 |
Agammaglobulinemia 9, Autosomal Recessive |
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Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Hyperparathyroidism 4 |
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Osteopenia, Hypercalcemia |
OMIM:617343 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Livedoid Vasculopathy |
|
Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Lower limb pain, Hyperpigme... |
ORPHA:542643 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Short neck |
ORPHA:1655 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... |
ORPHA:3226 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Spherocytosis, Type 5 |
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Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Tularemia |
|
Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thrombocytopenia |
ORPHA:3392 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Reduced bone mineral density, Osteopenia, Scoliosis, Joint laxity, Hypoalbuminemia,... |
OMIM:613658 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Flexion contracture, Splenomegaly, Arthritis, Hypertriglyceridemia, Anemia, Thromboc... |
OMIM:617591 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia, Wormian bones |
OMIM:617237 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti... |
ORPHA:99879 |
Leukocyte Adhesion Deficiency |
|
Osteomyelitis, Leukocytosis, Polycythemia, Coronal craniosynostosis, Impaired neutrophil chemotax... |
ORPHA:2968 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Synostosis of carpal bones, Scoliosis, Radioulnar synostosis, Thro... |
ORPHA:2307 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... |
OMIM:619991 |
Majeed Syndrome |
|
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Hypocalcemia, Osteopetrosis, Leukopenia, Elevated circulating creatine kinas... |
ORPHA:2785 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Abnormal bone ossification, Accelerated skeletal maturation, Abnormality of retinal... |
ORPHA:175 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Joint swelling, Sclerosis of skull base, Lumbar hyperlordosis, Lym... |
OMIM:607944 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... |
ORPHA:3320 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... |
ORPHA:486 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Paget Disease Of Bone 2, Early-Onset |
|