Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia, BCGosis |
OMIM:618963 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Bleeding Disorder, Platelet-Type, 21 |
|
Recurrent viral infections, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal bleeding, Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocyto... |
ORPHA:86841 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Can... |
OMIM:619281 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... |
ORPHA:238459 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... |
OMIM:263300 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... |
OMIM:153640 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Recurrent upper respiratory tract infections, Impaire... |
OMIM:614075 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Diffuse alveolar hemorr... |
OMIM:614034 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... |
ORPHA:3318 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormal bleed... |
ORPHA:824 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... |
ORPHA:182050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Recurrent otitis media, Chronic oral candidiasis, Hepatomegaly,... |
OMIM:608233 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Hepatomegaly, Lymphocytosis, Leukocytosis, Recurrent oral herpes... |
OMIM:619652 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... |
OMIM:620010 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... |
OMIM:210250 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Recurrent bacterial infections, Pulmonary hemorrhage, Macrothrombocytope... |
OMIM:603585 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... |
ORPHA:721 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu... |
OMIM:615934 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Recur... |
OMIM:226300 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
Wiskott-Aldrich Syndrome |
|
Melena, Sepsis, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hyperse... |
OMIM:301000 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocu... |
OMIM:608971 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Thrombocytosis, Impaired lymph... |
OMIM:243150 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... |
OMIM:612840 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary he... |
ORPHA:906 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... |
OMIM:235700 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recu... |
OMIM:613101 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytope... |
OMIM:607616 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Immunodeficiency 48 |
|
Recurrent candida infections, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD... |
OMIM:269840 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... |
OMIM:618534 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Lymphadenopat... |
ORPHA:167 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly... |
OMIM:615688 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... |
OMIM:616278 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil... |
OMIM:614493 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Ascites, Prolo... |
ORPHA:90308 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Abnormal bleeding, Thrombocytosis, Acute myeloid leuk... |
ORPHA:71493 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplasti... |
OMIM:615122 |
Neurofibromatosis-Noonan Syndrome |
|
Abnormality of the lymphatic system, Prolonged bleeding time |
ORPHA:638 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Meningitis... |
ORPHA:809 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... |
OMIM:308240 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... |
ORPHA:231401 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Recurre... |
OMIM:150550 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Increased ... |
OMIM:618213 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ... |
OMIM:603554 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... |
OMIM:240500 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Leukocytosis, Recurrent tonsillitis, Polyc... |
ORPHA:2968 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy, Increased circul... |
OMIM:618495 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Chronic oral candidiasis, Hepatomegaly, Hemophagocytosis, Splenomegaly, D... |
OMIM:301078 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Syndromic Diarrhea |
|
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Pan... |
ORPHA:84064 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Acquired Purpura Fulminans |
|
Macular purpura, Sepsis, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonge... |
ORPHA:49566 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... |
OMIM:607271 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Mgat2-Cdg |
|
Recurrent upper and lower respiratory tract infections, Decreased circulating IgG level, Abnormal... |
ORPHA:79329 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... |
OMIM:300635 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infect... |
ORPHA:108 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Leukopenia, Acute pancreatitis, Th... |
ORPHA:20 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Prolo... |
OMIM:212750 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... |
OMIM:308230 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... |
OMIM:603552 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Thrombocytopenia, Lymphadeno... |
OMIM:617718 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Thrombocytosis, Visceromegaly, Lymphadenopath... |
ORPHA:2905 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... |
ORPHA:169090 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Thrombocytosis, H... |
OMIM:212065 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Reduced natural killer cell count, Recurre... |
OMIM:301074 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... |
OMIM:153670 |
Immunodeficiency 32B |
|
Recurrent infections, Recurrent respiratory infections, Splenomegaly |
OMIM:226990 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia |
ORPHA:713 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Cirrhosis, Cholestasis, Thrombocytosis, Hepatic fibrosis, Anemia, Hepatic steatosis |
OMIM:615486 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Recurrent infections, Ecchymosis, Neutropeni... |
ORPHA:88 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Mediastinal lym... |
ORPHA:158029 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Hepatomegaly, Leukocytosis |
ORPHA:134 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Brucellosis |
|
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Increased circula... |
ORPHA:1304 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p... |
OMIM:222470 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Meningitis, Panc... |
OMIM:616050 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... |
ORPHA:331206 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... |
ORPHA:3260 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections |
OMIM:605309 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... |
OMIM:616100 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Polycythemia, Hepatic necrosis, ... |
ORPHA:88673 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morph... |
ORPHA:47612 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent bacter... |
OMIM:613179 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Recurrent respiratory infections, Leukocytosis, Splenomegaly |
OMIM:618042 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal bleeding, Leukopenia, ... |
ORPHA:507 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural kil... |
OMIM:603553 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Hermansky-Pudlak Syndrome 4 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Abnormal platelet granules |
OMIM:614073 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, H... |
ORPHA:158048 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Normocytic anemia, Recu... |
OMIM:617941 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Sepsis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly, Bruising susce... |
OMIM:214500 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Prolidase Deficiency |
|
Increased circulating antibody level, Petechiae, Hepatomegaly, Splenomegaly, Recurrent pneumonia,... |
OMIM:170100 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... |
OMIM:613280 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Abnorm... |
ORPHA:335 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... |
OMIM:233710 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeniti... |
OMIM:618935 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... |
ORPHA:79303 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... |
OMIM:233690 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... |
ORPHA:822 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Splenom... |
OMIM:614700 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Noonan Syndrome |
|
Hepatomegaly, Abnormal bleeding, Abnormality of the spleen, Abnormality of the lymphatic system, ... |
ORPHA:648 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Hepatomegaly, Splenome... |
OMIM:102700 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... |
ORPHA:231154 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased... |
OMIM:133100 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... |
OMIM:105650 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Recurrent infectio... |
OMIM:617591 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Recurrent pneumonia, Recurrent infections, Neutropenia, Thrombocyt... |
OMIM:616271 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, Splenomegaly, Bruising susc... |
ORPHA:540 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Prolonged bleedi... |
OMIM:203300 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... |
OMIM:611881 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis, Jaundice, ... |
OMIM:618641 |
Kasabach-Merritt Syndrome |
|
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology,... |
ORPHA:2330 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Persistent bleeding after trauma, Subcutaneous hemorrhage, Hypochromic ... |
ORPHA:99147 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolyt... |
OMIM:603903 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemi... |
ORPHA:1572 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Petechiae, Increased circulating IgA level, Bruising susceptibility, Congenital... |
OMIM:313900 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Recurrent respiratory infections, Splenomegaly |
ORPHA:30 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Gaucher Disease, Type I |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Epistaxis, Hypersplenism |
OMIM:230800 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... |
OMIM:306400 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Cystic Echinococcosis |
|
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Hepatic steatosis, Prolonged prothrombin time, Cerebellar hemorrhage |
ORPHA:99901 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Caroli Syndrome |
|
Hyperbilirubinemia, Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Thrombocytopenia, Li... |
ORPHA:480520 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Refractory sideroblast... |
OMIM:557000 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating IgA lev... |
OMIM:260920 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... |
ORPHA:3008 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Inter... |
ORPHA:244242 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis |
ORPHA:39812 |
Sialuria |
|
Cholelithiasis, Hepatosplenomegaly, Hepatomegaly, Prolonged prothrombin time |
ORPHA:3166 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Portal hypertension, Ascites, Prolonged prothrombin ... |
ORPHA:367 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Reticulocytosis, Decreased... |
ORPHA:14 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia |
ORPHA:348 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, H... |
OMIM:277900 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Lathosterolosis |
|
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... |
OMIM:607330 |
Yellow Fever |
|
Neutrophilia, Leukocytosis, Opportunistic infection, Abnormal bleeding, Pancreatic hyperplasia, H... |
ORPHA:99829 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Portal hypertension, Jaundice, ... |
ORPHA:309854 |
Isolated Biliary Atresia |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Prolonged prothrombin time, Cholestas... |
ORPHA:30391 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Liver abscess, Leukocytosis, Splenomegaly |
ORPHA:53035 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged prothrombin time |
OMIM:610842 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Bleeding with minor or no trauma, Prolon... |
OMIM:619525 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Lathosterolosis |
|
Hepatomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Abnormal platelet morphology, Thromb... |
ORPHA:46059 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Tyrosinemia, Type I |
|
Melena, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Enlarged kidney, Pancrea... |
OMIM:276700 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Spl... |
ORPHA:567983 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Stomatocytosis |
ORPHA:168577 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Petechiae, Lymphopenia, Pancreatitis, Bruising susceptibili... |
ORPHA:99826 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Hepatopulmonary fusion, Prolonged bleeding time, Enlarged kidney |
OMIM:618280 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol... |
ORPHA:79277 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... |
ORPHA:447 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hepatitis, Intrahepatic chol... |
OMIM:614921 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia |
ORPHA:464321 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Prolonged prothrombin time |
OMIM:616483 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... |
ORPHA:171 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... |
OMIM:619991 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Degcags Syndrome |
|
Hyperbilirubinemia, Congenital hypoplastic anemia, Leukopenia, Abnormal spleen morphology, Hepato... |
OMIM:619488 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia |
OMIM:229600 |
Ogden Syndrome |
|
Polycythemia, Thrombocytopenia, Hyperbilirubinemia, Iron deficiency anemia |
OMIM:300855 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Cranioectodermal Dysplasia 2 |
|
Polysplenia, Hyperbilirubinemia, Splenomegaly |
OMIM:613610 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level |
OMIM:218700 |
Cog8-Cdg |
|
Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Hardikar Syndrome |
|
Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hypersplenism |
OMIM:301068 |
Acute Liver Failure |
|
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hep... |
ORPHA:90062 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
ORPHA:287 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Nodular reg... |
ORPHA:404454 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hepatocellular carcinoma, Prolonged prothrombin time, Abnormality of the liver |
ORPHA:88618 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia |
OMIM:613658 |
Monosomy 13Q34 |
|
Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Hematochezia |
ORPHA:96168 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... |
OMIM:619534 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Hepatic steatosis, Prolonged prothrombin time |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Prolonged prothrombin time, Macrovesicular hepatic steatosis |
OMIM:618329 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
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 |