| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... |
OMIM:231200 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... |
OMIM:314050 |
| Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... |
OMIM:155100 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
| Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
| Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... |
OMIM:124900 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... |
OMIM:616176 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... |
ORPHA:238459 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
| Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... |
OMIM:617443 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
| Thrombocytopenia 2 |
|
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... |
OMIM:188000 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
| Myh9-Related Disease |
|
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... |
ORPHA:182050 |
| Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... |
OMIM:187900 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:613554 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... |
OMIM:620484 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... |
OMIM:139090 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia |
OMIM:273900 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... |
ORPHA:274 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Splenomegaly,... |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... |
OMIM:614009 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... |
OMIM:601399 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... |
OMIM:620044 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Quebec Platelet Disorder |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... |
OMIM:601709 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt... |
ORPHA:3318 |
| Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... |
OMIM:614074 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... |
OMIM:300367 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:314000 |
| Von Willebrand Disease, Type 1 |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... |
OMIM:193400 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... |
OMIM:615234 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... |
OMIM:313900 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... |
ORPHA:98826 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... |
ORPHA:325 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... |
OMIM:210250 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Bilateral Striopallidodentate Calcinosis |
|
Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegal... |
OMIM:263300 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... |
OMIM:300835 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... |
ORPHA:3226 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Hypoplasia of t... |
OMIM:619151 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt... |
ORPHA:300298 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Pancytopenia, Ecchymosis, Anemia, Reticulocytopenia, Neutropenia, T... |
ORPHA:88 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Pa... |
ORPHA:75564 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia |
OMIM:616744 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... |
OMIM:617052 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Transaldolase Deficiency |
|
Anemia, Abnormal clitoris morphology, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:101028 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi... |
ORPHA:848 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Cryptorchidism, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... |
ORPHA:903 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... |
ORPHA:457083 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia |
ORPHA:261250 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cryptorchidism, Thrombocytopenia, Anemia, Hypospadias |
OMIM:611209 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... |
OMIM:193670 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... |
ORPHA:231222 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... |
ORPHA:906 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Neutropenia, T... |
OMIM:603585 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time |
ORPHA:90308 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Thrombocytopenia 6 |
|
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis |
OMIM:616937 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Pancreatic hypoplasia, Increased mean corpuscular volume, Hyp... |
ORPHA:811 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia |
ORPHA:158029 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... |
ORPHA:96181 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... |
ORPHA:824 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Acquired Purpura Fulminans |
|
Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ... |
ORPHA:49566 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... |
OMIM:158330 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia |
OMIM:610539 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Tufted Angioma |
|
Anemia, Purpura, Petechiae, Thrombocytopenia |
ORPHA:1063 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas |
ORPHA:145 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased proportion of CD8-positiv... |
OMIM:301000 |
| 46,Xx Sex Reversal 4 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... |
OMIM:617480 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:613101 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Petechiae, Reticulocytosis, Thrombocytopenia, Anemia |
OMIM:611490 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... |
ORPHA:158057 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... |
ORPHA:520 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Relapsing Fever |
|
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P... |
ORPHA:91547 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Hypospadias, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
| Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia |
OMIM:619463 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
| Lig4 Syndrome |
|
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytop... |
OMIM:606593 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromb... |
ORPHA:507 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the endocrine system, Hypospadias, Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Mirage Syndrome |
|
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... |
OMIM:617053 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... |
OMIM:203300 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Leukopenia, P... |
ORPHA:99828 |
| Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-positive he... |
ORPHA:101096 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura |
OMIM:605432 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Prolonged bleed... |
ORPHA:809 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Lymphocytosis, Thrombocytopenia, Subconjunctival he... |
OMIM:617718 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Thrombocytosis, Increased me... |
ORPHA:84064 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Cryptorchidism, Neutropenia |
OMIM:614857 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia |
ORPHA:49827 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:610333 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... |
OMIM:616050 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Petechiae, Autoimmune hemolytic anemia, Splenomegaly, Elevated propo... |
OMIM:603909 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Cryptorchidism, Hypothyroidism, Thrombocytopenia, Anemia |
OMIM:608104 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia |
OMIM:150550 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
| Stormorken Syndrome |
|
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Subarachnoid hemorrha... |
OMIM:185070 |
| Preeclampsia |
|
Type I diabetes mellitus, Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
| Atelis Syndrome 1 |
|
Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia |
OMIM:620184 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc... |
ORPHA:64743 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:108 |
| Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... |
ORPHA:2330 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... |
OMIM:304790 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia |
ORPHA:27 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia |
ORPHA:229717 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:227650 |
| Rhabdoid Tumor |
|
Anemia, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... |
ORPHA:99147 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:606003 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... |
ORPHA:100026 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia |
OMIM:620603 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, An... |
ORPHA:398124 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... |
OMIM:235200 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Incre... |
ORPHA:98850 |
| Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Intracranial hemorrhage |
ORPHA:85212 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Ecchymosis, Thrombocytopenia, Intracranial hemor... |
ORPHA:449285 |
| Sengers Syndrome |
|
Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Petechiae, Anemia, Thrombocytopenia, Retinal hemorrhage |
ORPHA:294 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
| Congenital Rubella Syndrome |
|
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia |
ORPHA:290 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Neutropenia, Thromb... |
OMIM:613990 |
| Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... |
OMIM:301078 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Thrombocytopenia, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Cerebral hemorrhage, Hemolytic anemia, Internal hemorrhage, Pr... |
ORPHA:244242 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Gaucher Disease, Type I |
|
Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Fanconi Anemia, Complementation Group F |
|
Microphallus, Decreased response to growth hormone stimulation test, Leukopenia, Cryptorchidism, ... |
OMIM:603467 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Thrombocytopenia, Monoc... |
OMIM:619644 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... |
OMIM:242900 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Petechiae, Thrombocytopenia |
ORPHA:231111 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus |
OMIM:613845 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia |
OMIM:267700 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Lymphopenia, Leukopenia, Thrombocytopenia, Melena |
ORPHA:319218 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Tularemia |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:3392 |
| Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio |
OMIM:618048 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, P... |
OMIM:603553 |
| Boutonneuse Fever |
|
Leukopenia, Petechiae, Thrombocytopenia |
ORPHA:83313 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage |
OMIM:618886 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
| Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia |
ORPHA:160 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia |
ORPHA:99901 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombo... |
ORPHA:292 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Cryptorchidism, Thrombocytopenia, Micropenis, Hypospadias |
OMIM:301056 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... |
OMIM:214500 |
| Prolidase Deficiency |
|
Anemia, Splenomegaly, Petechiae, Thrombocytopenia |
OMIM:170100 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea |
OMIM:614851 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... |
OMIM:612541 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Abnormal bleeding, Thrombocytopenia |
ORPHA:454831 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Bruising susceptibility, Petechiae, Splenomegaly, Ecchymosis, Neutropenia, Thro... |
ORPHA:540 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Purpura |
OMIM:235400 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:263501 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism... |
OMIM:614700 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia, Elevated vascular endot... |
ORPHA:457077 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Adrenal insufficiency, Hepatosplenomegaly, Hypersplenism, Leukopenia, Sple... |
OMIM:278000 |
| Noonan Syndrome 4 |
|
Cryptorchidism, Thrombocytopenia |
OMIM:610733 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:905 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... |
ORPHA:525731 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymos... |
ORPHA:464329 |
| Griscelli Syndrome |
|
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia |
ORPHA:381 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Hypothyroidism, Thrombocytopenia, Inappropriate ... |
ORPHA:79330 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Leukemia, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia,... |
OMIM:227646 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Leukopenia, Neutropenia |
OMIM:251000 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
| Zika Virus Disease |
|
Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:448237 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Thrombocytopenia, Cerebral hemorrhage |
OMIM:617397 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Abnormal bleeding, Splenomegaly, Thrombocytopenia |
OMIM:614576 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, A... |
ORPHA:79124 |
| Gaucher Disease Type 1 |
|
Gingival bleeding, Splenic infarction, Abnormal bleeding, Bruising susceptibility, Hepatosplenome... |
ORPHA:77259 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micropenis, Decreased hemoglobin concentration, Cryptorchidism, Thrombocytopenia |
OMIM:619005 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Hemophagoc... |
ORPHA:167 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... |
ORPHA:1775 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Refractory side... |
OMIM:557000 |
| Lathosterolosis |
|
Hypoplasia of penis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis |
ORPHA:46059 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Muscle hemorrhage... |
ORPHA:464321 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Abnormal vagina morphology, Neutropenia |
ORPHA:537 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:259700 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Petechiae, Thrombocytopenia |
OMIM:251290 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:169090 |
| Cyclic Neutropenia |
|
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Abnormality of thyroid physiology, Decreas... |
ORPHA:1830 |
| Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Leukocytosis, Petechiae, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, ... |
ORPHA:90051 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ... |
OMIM:610377 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, Clitoral hypo... |
OMIM:147791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| Immunodeficiency 22 |
|
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia |
OMIM:615758 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Anemia, Thrombocytopenia, Micropenis, Hypospadias |
ORPHA:163979 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Purpura, Petechiae, Thrombocytopenia |
OMIM:225750 |
| Fanconi Anemia |
|
Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Cryptorchidism, Anemia, Decreas... |
ORPHA:84 |
| Dubowitz Syndrome |
|
Abnormal female external genitalia morphology, Cryptorchidism, Anemia, Thrombocytopenia, Hypopara... |
ORPHA:235 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea... |
OMIM:619004 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia |
OMIM:617591 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:208085 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, Acute myeloid leuk... |
OMIM:305000 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:609441 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Anemia |
OMIM:614083 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... |
OMIM:259720 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Cryptorchidism, Hypothyroidism, Thromboc... |
OMIM:620005 |
| Avian Influenza |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:454836 |
| Alg12-Cdg |
|
Cryptorchidism, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lymphocytopenia... |
ORPHA:79324 |
| Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Anemia, Hematemesis, Thrombocytopenia, Melena, Retinal hemo... |
ORPHA:319251 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipuncture, Ecchymosis, Throm... |
ORPHA:319213 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:308230 |
| Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
| Overlap Myositis |
|
Leukopenia, Diabetes mellitus, Thrombocytopenia |
ORPHA:206572 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Petechiae, Thrombocytopenia, Anemia, Purpura |
OMIM:608013 |
| Neuroblastoma |
|
Anemia, Abnormal bleeding, Thrombocytopenia |
ORPHA:635 |
| Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopen... |
OMIM:620376 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Hypoplastic nipples, Thrombocytopenia |
ORPHA:261323 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... |
ORPHA:391487 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced circulating growth hormone conce... |
OMIM:620654 |
| Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
| Bcard Syndrome |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:612394 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... |
OMIM:618280 |
| Sialuria |
|
Hepatosplenomegaly, Prolonged prothrombin time |
ORPHA:3166 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Cornelia De Lange Syndrome 1 |
|
Hypoplastic male external genitalia, Cryptorchidism, Hypoplastic nipples, Hypoplastic labia major... |
OMIM:122470 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Gaucher Disease, Type Ii |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
| Down Syndrome |
|
Polycythemia, Type II diabetes mellitus, Decreased fertility, Acute megakaryocytic leukemia, Dela... |
ORPHA:870 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Petechiae, Thrombocytopenia, Anemia, Purpura |
ORPHA:499009 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia |
ORPHA:90038 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinogen III cosyntha... |
OMIM:263700 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Atelis Syndrome 2 |
|
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... |
OMIM:620185 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Abnormal bleeding, Bruising susceptibility, Lymphopenia, A... |
ORPHA:99826 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:333 |
| Caroli Syndrome |
|
Abnormal bleeding, Leukopenia, Hypersplenism, Leukocytosis, Hematemesis, Thrombocytopenia, Melena |
ORPHA:480520 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Stevens-Johnson Syndrome |
|
Anemia, Abnormality of neutrophils, Dyspareunia, Thrombocytopenia |
ORPHA:36426 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Delayed puberty, Thrombocytopenia, Anemia |
ORPHA:77261 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Prolonged prothrombin time |
ORPHA:367 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Neutrophilia, Subdural hemorrhage, Spo... |
ORPHA:99827 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ... |
OMIM:274000 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Leukocytosis, Splenic abscess, Thrombocytopenia, Purpura |
ORPHA:810 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Hemolytic anemia, Leukopenia, Reticulocytosis, Erythroid hyperplasia, Abnormal eryt... |
ORPHA:447 |
| Brucellosis |
|
Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Orchitis, Thrombocytopenia, Thrombocytosis... |
ORPHA:1304 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Pulmonary hemorrhage, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:222700 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty |
OMIM:615866 |
| Classical Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Prolonged bleeding time, Ecchymosis |
ORPHA:287 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopeni... |
ORPHA:36234 |
| Yellow Fever |
|
Neutrophilia, Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemes... |
ORPHA:99829 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Leukocytosis, Petechiae, Ecchymosis, Hematemesis, Internal hemorrhage, Thrombocytopeni... |
ORPHA:340 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... |
OMIM:618419 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Pancytopenia, Retic... |
ORPHA:699 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia |
OMIM:300972 |
| Q Fever |
|
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia, Purpura |
ORPHA:781 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Intestinal bleeding, Thrombocytopenia |
OMIM:612199 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis... |
ORPHA:79277 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Premature ovarian insufficiency... |
OMIM:251260 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
| Tangier Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:31150 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Splenomegaly, Hypothyroidism, Thrombocytopenia, Anemia, Hemolytic anemia |
OMIM:615846 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Azoospermia, Pancytopenia, Splenom... |
ORPHA:2072 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:505248 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of thrombocytes, Abnormality of the uterus, Cryptorchidism, Splenomeg... |
ORPHA:567 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Prolonged prothrombin time |
ORPHA:96168 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency |
OMIM:130050 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... |
OMIM:188400 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Thrombocytopenia |
ORPHA:2308 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Elliptocytosis, Anemia, Secondary hyperparathyroidism |
ORPHA:2785 |
| Ogden Syndrome |
|
Polycythemia, Decreased testicular size, Cryptorchidism, Iron deficiency anemia, Maternal diabete... |
OMIM:300855 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Prolonged prothrombin time, Thrombocytopenia, Anemia, Bleeding w... |
OMIM:619525 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti... |
ORPHA:90062 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time, Thrombocytosis |
OMIM:212065 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Subdural hemorrhage, Neutropenia |
ORPHA:79282 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia |
ORPHA:647 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Parotitis, Leukopenia, Enlargement of parotid gland, Abnormal reproduct... |
ORPHA:797 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia |
OMIM:620423 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... |
OMIM:256040 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Enlargement of parotid gland, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytope... |
ORPHA:50918 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Prolonged prothrombin time, Anemia |
ORPHA:14 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
| Wilson Disease |
|
Splenomegaly, Anemia, Thrombocytopenia, Hypoparathyroidism, Hemolytic anemia |
OMIM:277900 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Pancytopenia, Leukopenia, Splenomegaly, Delayed puberty, Sple... |
ORPHA:355 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Prolonged prothrombin time |
ORPHA:309854 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias |
OMIM:236680 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Prolonged prothrombin time, Melena, Anemia |
OMIM:276700 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hypersplenism, Splenomegaly, Decreased serum insulin-like growth factor 1, Delaye... |
ORPHA:77293 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Diabetes mellitus, Thrombocytopenia, Leukocytosis |
ORPHA:544482 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Hypothyroid... |
ORPHA:51 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thrombocytopenia,... |
OMIM:163950 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Decreased response to growth hormone stimulation test, Leukopenia, Hepatospleno... |
ORPHA:470 |
| Liver Disease, Severe Congenital |
|
Pancreatic hypoplasia, Leukopenia, Splenomegaly, Biliary hyperplasia, Lymphocytosis, Hyperinsulin... |
OMIM:619991 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
| Isolated Biliary Atresia |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A... |
ORPHA:247598 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Biliary hyperplasia, Thrombocytopenia, Pancreati... |
ORPHA:731 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Impaired growth-hormone response to glucagon sti... |
OMIM:301068 |
| Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... |
OMIM:107480 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Thrombocytopenia |
ORPHA:466650 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism |
OMIM:135900 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Leptospirosis |
|
Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage, Thrombocytopenia |
ORPHA:509 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus |
ORPHA:649 |
| Osteogenesis Imperfecta |
|
Bruising susceptibility, Thrombocytopenia, Cerebral hemorrhage |
ORPHA:666 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:404454 |
| Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Splenomegaly, Prolonged prothrombin time |
ORPHA:171 |
| Peters Plus Syndrome |
|
Congenital hypothyroidism, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopi... |
ORPHA:709 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Hypopla... |
OMIM:261540 |
| Pallister-Killian Syndrome |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj... |
OMIM:601803 |
